Datasets:
marin-dna
/
evals_complex_traits

Dataset card Data Studio Files
xet
 Community
chrom
stringclasses
12 values
pos
int64
36.1k
249M
ref
stringclasses
4 values
alt
stringclasses
4 values
label
bool
2 classes
subset
stringclasses
8 values
match_group
int64
0
2.16k
rsid
stringlengths
3
15
pip
float64
0
1
traits
stringclasses
279 values
MAF
float64
0
0.5
ld_score
float64
1.01
3.79k
consequence
stringclasses
13 values
consequence_cre
stringclasses
29 values
exon_closest_pc_gene_id
stringlengths
15
15
distance_exon_pc
int64
0
1.68M
exon_closest_nc_gene_id
stringlengths
15
15
distance_exon_nc
int64
0
507k
distance_exon
int64
0
507k
exon_closest_gene_id
stringlengths
15
15
consequence_final
stringclasses
28 values
tss_closest_pc_gene_id
stringlengths
15
15
distance_tss_pc
int64
0
1.69M
tss_closest_nc_gene_id
stringlengths
15
15
distance_tss_nc
int64
0
531k
distance_tss
int64
0
531k
tss_closest_gene_id
stringlengths
15
15
consequence_group
stringclasses
8 values
distance_tss_pc_bin
stringclasses
4 values
distance_exon_pc_bin
stringclasses
7 values
9
132,911,517
A
G
false
missense_variant
2,079
rs1073123
0.000319
0.13557
98.708
missense_variant
missense_variant
ENSG00000165699
0
ENSG00000165699
0
0
ENSG00000165699
missense_variant
ENSG00000165699
4,146
ENSG00000165699
310
310
ENSG00000165699
missense_variant
NA
NA
9
132,942,390
T
G
false
non_coding_transcript_exon_variant
2,057
rs147004430
0.00022
0.01943
13.106
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000165699
2,152
ENSG00000165699
0
0
ENSG00000165699
non_coding_transcript_exon_variant
ENSG00000165699
2,221
ENSG00000165702
1,609
1,609
ENSG00000165702
non_coding_transcript_exon_variant
NA
NA
9
132,982,152
G
A
false
distal
2,110
rs73660572
0.00087
0.012264
16.584
intron_variant
dELS
ENSG00000165702
3,310
ENSG00000238558
18,358
3,310
ENSG00000165702
dELS
ENSG00000165702
3,440
ENSG00000238558
18,419
3,440
ENSG00000165702
distal
NA
NA
9
132,982,259
C
T
true
distal
2,110
rs117868203
1
Eosino
0.017513
30.911
intron_variant
dELS
ENSG00000165702
3,417
ENSG00000238558
18,465
3,417
ENSG00000165702
dELS
ENSG00000165702
3,547
ENSG00000238558
18,526
3,547
ENSG00000165702
distal
NA
NA
9
132,982,533
G
A
false
distal
2,110
rs60498728
0.000182
0.014614
8.1609
intron_variant
dELS
ENSG00000165702
3,691
ENSG00000238558
18,739
3,691
ENSG00000165702
dELS
ENSG00000165702
3,821
ENSG00000238558
18,800
3,821
ENSG00000165702
distal
NA
NA
9
132,985,025
G
A
true
distal
2,113
rs73660574
1
MCH,MCV,RBC
0.041373
23.815
intron_variant
pELS
ENSG00000165702
1,633
ENSG00000238558
21,231
1,633
ENSG00000165702
pELS
ENSG00000165702
1,653
ENSG00000238558
21,292
1,653
ENSG00000165702
distal
NA
NA
9
132,985,585
G
A
false
distal
2,113
rs111796371
0.00051
0.019254
31.414
intron_variant
pELS
ENSG00000165702
1,073
ENSG00000238558
21,791
1,073
ENSG00000165702
pELS
ENSG00000165702
1,093
ENSG00000238558
21,852
1,093
ENSG00000165702
distal
NA
NA
9
132,987,359
C
A
false
missense_variant
2,077
rs149810016
0.000061
0.000023
4.9164
missense_variant
missense_variant
ENSG00000165702
0
ENSG00000238558
23,565
0
ENSG00000165702
missense_variant
ENSG00000165702
679
ENSG00000238558
23,626
679
ENSG00000165702
missense_variant
NA
NA
9
132,988,188
T
A
false
splicing
2,127
rs148081644
0.000141
0.004365
20.001
splice_polypyrimidine_tract_variant
splice_polypyrimidine_tract_variant
ENSG00000165702
8
ENSG00000238558
24,394
8
ENSG00000165702
splice_polypyrimidine_tract_variant
ENSG00000165702
1,508
ENSG00000238558
24,455
1,508
ENSG00000165702
splicing
NA
splicing:b1
9
132,988,200
G
T
false
missense_variant
2,077
rs115534814
0.000109
0.000221
46.137
missense_variant
missense_variant
ENSG00000165702
0
ENSG00000238558
24,406
0
ENSG00000165702
missense_variant
ENSG00000165702
1,520
ENSG00000238558
24,467
1,520
ENSG00000165702
missense_variant
NA
NA
9
132,988,247
G
A
false
missense_variant
2,077
rs145562579
0.000093
0.000057
3.2918
missense_variant
missense_variant
ENSG00000165702
0
ENSG00000238558
24,453
0
ENSG00000165702
missense_variant
ENSG00000165702
1,567
ENSG00000238558
24,514
1,567
ENSG00000165702
missense_variant
NA
NA
9
132,988,251
C
T
true
missense_variant
2,077
rs143926538
0.990895
Eosino
0.002726
4.5565
missense_variant
missense_variant
ENSG00000165702
0
ENSG00000238558
24,457
0
ENSG00000165702
missense_variant
ENSG00000165702
1,571
ENSG00000238558
24,518
1,571
ENSG00000165702
missense_variant
NA
NA
9
132,989,049
C
G
true
splicing
2,127
rs60757417
0.99661
MCH,MCV,Plt
0.060306
22.221
splice_polypyrimidine_tract_variant
splice_polypyrimidine_tract_variant
ENSG00000165702
11
ENSG00000238558
25,255
11
ENSG00000165702
splice_polypyrimidine_tract_variant
ENSG00000165702
2,369
ENSG00000238558
25,316
2,369
ENSG00000165702
splicing
NA
splicing:b1
9
132,989,126
C
T
true
synonymous_variant
2,128
rs150813342
1
Eosino,HbA1c,MCH,MCV,Neutro,Plt,WBC
0.008113
12.914
synonymous_variant
synonymous_variant
ENSG00000165702
0
ENSG00000238558
25,332
0
ENSG00000165702
synonymous_variant
ENSG00000165702
2,446
ENSG00000238558
25,393
2,446
ENSG00000165702
synonymous_variant
NA
NA
9
132,989,174
G
A
false
synonymous_variant
2,128
rs140900853
0.000305
0.0028
8.1169
synonymous_variant
synonymous_variant
ENSG00000165702
0
ENSG00000238558
25,380
0
ENSG00000165702
synonymous_variant
ENSG00000165702
2,494
ENSG00000238558
25,441
2,494
ENSG00000165702
synonymous_variant
NA
NA
9
132,990,954
A
G
false
synonymous_variant
2,128
rs143454296
0.000083
0.00112
4.912
synonymous_variant
synonymous_variant
ENSG00000165702
0
ENSG00000238558
27,160
0
ENSG00000165702
synonymous_variant
ENSG00000165702
4,274
ENSG00000238558
27,221
4,274
ENSG00000165702
synonymous_variant
NA
NA
9
133,027,651
G
A
false
distal
2,081
rs4962090
0.000578
0.48244
26.538
downstream_gene_variant
dELS_flank
ENSG00000148308
3,023
ENSG00000288989
493
493
ENSG00000288989
dELS_flank
ENSG00000148308
3,023
ENSG00000288989
2,822
2,822
ENSG00000288989
distal
NA
NA
9
133,202,129
G
A
false
distal
2,118
rs4962103
0.000021
0.45842
87.426
intergenic_variant
CA-CTCF
ENSG00000171102
3,149
ENSG00000171102
3,147
3,147
ENSG00000171102
CA-CTCF
ENSG00000171102
7,120
ENSG00000171102
7,111
7,111
ENSG00000171102
distal
NA
NA
9
133,300,635
G
A
false
distal
2,112
rs9411393
0.000883
0.25748
113.83
intergenic_variant
pELS
ENSG00000175164
25,415
ENSG00000201843
1,834
1,834
ENSG00000201843
pELS
ENSG00000175164
25,415
ENSG00000201843
1,834
1,834
ENSG00000201843
distal
NA
NA
9
133,332,023
G
A
false
missense_variant
2,070
rs1800867
0.000336
0.022659
24.763
missense_variant
missense_variant
ENSG00000148296
0
ENSG00000148296
0
0
ENSG00000148296
missense_variant
ENSG00000148296
4,164
ENSG00000148296
915
915
ENSG00000148296
missense_variant
NA
NA
9
133,351,103
A
G
false
tss_proximal
2,130
rs28693986
0.000965
0.085657
251.67
intron_variant
PLS_flank
ENSG00000148303
31
ENSG00000148303
31
31
ENSG00000148303
tss_proximal
ENSG00000148303
2,180
ENSG00000148303
252
252
ENSG00000148303
tss_proximal
tss_prox:b2
tss_prox:b0
9
133,351,226
G
A
false
tss_proximal
2,130
rs71503185
0.000937
0.085682
251.66
intron_variant
pELS
ENSG00000148303
35
ENSG00000148303
35
35
ENSG00000148303
tss_proximal
ENSG00000148303
2,303
ENSG00000148303
375
375
ENSG00000148303
tss_proximal
tss_prox:b2
tss_prox:b0
9
133,360,384
G
A
false
missense_variant
2,065
rs12763
0.000212
0.39264
139.36
missense_variant
missense_variant
ENSG00000148291
0
ENSG00000148291
276
0
ENSG00000148291
missense_variant
ENSG00000148291
3,833
ENSG00000148291
3,335
3,335
ENSG00000148291
missense_variant
NA
NA
9
133,369,011
A
T
false
distal
2,085
rs3118660
0.001098
0.11339
67.582
intron_variant
dELS_flank
ENSG00000148248
1,467
ENSG00000148248
1,467
1,467
ENSG00000148248
dELS_flank
ENSG00000148248
7,031
ENSG00000148248
2,933
2,933
ENSG00000148248
distal
NA
NA
9
133,412,362
T
C
false
missense_variant
2,076
rs2285487
0.000961
0.086155
252.01
missense_variant
missense_variant
ENSG00000148300
0
ENSG00000148300
0
0
ENSG00000148300
missense_variant
ENSG00000148300
3,537
ENSG00000160323
1,995
1,995
ENSG00000160323
missense_variant
NA
NA
9
133,422,462
C
T
false
missense_variant
2,079
rs34024143
0.00046
0.12838
185.87
missense_variant
missense_variant
ENSG00000160323
0
ENSG00000160323
0
0
ENSG00000160323
missense_variant
ENSG00000160323
94
ENSG00000160323
136
94
ENSG00000160323
missense_variant
NA
NA
9
133,466,061
T
C
false
distal
2,111
rs75340988
0.000555
0.36376
110.42
intron_variant
dELS
ENSG00000160325
613
ENSG00000160325
207
207
ENSG00000160325
dELS
ENSG00000160325
3,889
ENSG00000160325
6,062
3,889
ENSG00000160325
distal
NA
NA
9
133,466,159
T
A
false
distal
2,111
rs68011680
0.000572
0.36381
110.39
intron_variant
dELS
ENSG00000160325
711
ENSG00000160325
305
305
ENSG00000160325
dELS
ENSG00000160325
3,987
ENSG00000160325
6,160
3,987
ENSG00000160325
distal
NA
NA
9
133,467,315
G
C
false
distal
2,111
rs4962154
0.000743
0.36208
109.56
intron_variant
dELS
ENSG00000160325
605
ENSG00000160325
605
605
ENSG00000160325
dELS
ENSG00000160325
5,143
ENSG00000160325
7,316
5,143
ENSG00000160325
distal
NA
NA
9
133,467,553
G
A
false
distal
2,111
rs28552957
0.000677
0.36355
110.38
intron_variant
dELS
ENSG00000160325
367
ENSG00000160325
367
367
ENSG00000160325
dELS
ENSG00000160325
5,381
ENSG00000160325
7,554
5,381
ENSG00000160325
distal
NA
NA
9
133,504,331
C
T
false
distal
2,121
rs10121728
0.000279
0.33643
54.39
intergenic_variant
intergenic_variant
ENSG00000187616
10,254
ENSG00000187616
11,199
10,254
ENSG00000187616
intergenic_variant
ENSG00000187616
20,627
ENSG00000187616
24,280
20,627
ENSG00000187616
distal
NA
NA
9
133,509,668
C
T
false
distal
2,097
rs62576039
0.000479
0.17238
55.964
intergenic_variant
dELS
ENSG00000187616
4,917
ENSG00000187616
5,862
4,917
ENSG00000187616
dELS
ENSG00000187616
15,290
ENSG00000187616
18,943
15,290
ENSG00000187616
distal
NA
NA
9
133,511,369
G
A
false
distal
2,097
rs11523306
0.000077
0.1743
52.393
intergenic_variant
dELS
ENSG00000187616
3,216
ENSG00000187616
4,161
3,216
ENSG00000187616
dELS
ENSG00000187616
13,589
ENSG00000187616
17,242
13,589
ENSG00000187616
distal
NA
NA
9
133,519,966
A
C
true
distal
2,111
rs9330462
0.9999
Height
0.37034
28.31
intron_variant
dELS
ENSG00000187616
207
ENSG00000187616
207
207
ENSG00000187616
dELS
ENSG00000187616
4,992
ENSG00000187616
8,645
4,992
ENSG00000187616
distal
NA
NA
9
133,544,458
T
G
false
splicing
2,127
rs9802778
0.000104
0.07464
62.144
splice_polypyrimidine_tract_variant
splice_polypyrimidine_tract_variant
ENSG00000197859
11
ENSG00000187616
15,845
11
ENSG00000197859
splice_polypyrimidine_tract_variant
ENSG00000197859
9,604
ENSG00000187616
15,845
9,604
ENSG00000197859
splicing
NA
splicing:b1
9
133,636,447
G
A
false
missense_variant
2,078
rs76856960
0.00009
0.002275
2.5402
missense_variant
missense_variant
ENSG00000123454
0
ENSG00000261018
3,347
0
ENSG00000123454
missense_variant
ENSG00000123454
68
ENSG00000261018
3,347
68
ENSG00000123454
missense_variant
NA
NA
9
133,636,487
G
T
false
missense_variant
2,078
rs562042962
0.000605
0.002213
14.243
missense_variant
missense_variant
ENSG00000123454
0
ENSG00000261018
3,387
0
ENSG00000123454
missense_variant
ENSG00000123454
108
ENSG00000261018
3,387
108
ENSG00000123454
missense_variant
NA
NA
9
133,636,606
C
T
false
missense_variant
2,078
rs77273740
0.000237
0.000958
1.9638
missense_variant
missense_variant
ENSG00000123454
0
ENSG00000261018
3,506
0
ENSG00000123454
missense_variant
ENSG00000123454
227
ENSG00000261018
3,506
227
ENSG00000123454
missense_variant
NA
NA
9
133,636,634
G
C
true
missense_variant
2,078
rs3025380
0.999945
DBP,MAP,SBP
0.004378
8.494
missense_variant
missense_variant
ENSG00000123454
0
ENSG00000261018
3,534
0
ENSG00000123454
missense_variant
ENSG00000123454
255
ENSG00000261018
3,534
255
ENSG00000123454
missense_variant
NA
NA
9
133,639,992
A
G
false
splicing
2,129
rs1108580
0.000147
0.44828
44.576
splice_region_variant
splice_region_variant
ENSG00000123454
0
ENSG00000261018
6,892
0
ENSG00000123454
splice_region_variant
ENSG00000123454
3,613
ENSG00000261018
6,892
3,613
ENSG00000123454
splicing
NA
splicing:b0
9
133,644,326
C
G
false
splicing
2,125
rs1611126
0.000045
0.068363
23.187
splice_donor_region_variant
splice_donor_region_variant
ENSG00000123454
5
ENSG00000225756
10,259
5
ENSG00000123454
splice_donor_region_variant
ENSG00000123454
7,947
ENSG00000261018
11,226
7,947
ENSG00000123454
splicing
NA
splicing:b1
9
134,030,696
T
G
true
3_prime_UTR_variant
2,123
rs72766607
1
SHBG
0.02032
17.441
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000235106
0
ENSG00000235106
649
0
ENSG00000235106
3_prime_UTR_variant
ENSG00000235106
1,924
ENSG00000235106
1,656
1,656
ENSG00000235106
3_prime_UTR_variant
NA
NA
9
134,145,572
A
G
false
distal
2,086
rs28485412
0.000169
0.1469
48.336
intron_variant
dELS_flank
ENSG00000196363
2,715
ENSG00000273249
9,799
2,715
ENSG00000196363
dELS_flank
ENSG00000196363
9,489
ENSG00000273249
9,799
9,489
ENSG00000196363
distal
NA
NA
9
134,304,392
C
T
false
distal
2,091
rs12005751
0.003581
0.30076
137.15
intergenic_variant
dELS
ENSG00000186350
22,062
ENSG00000279929
3,978
3,978
ENSG00000279929
dELS
ENSG00000186350
22,062
ENSG00000279929
5,928
5,928
ENSG00000279929
distal
NA
NA
9
134,338,627
G
A
false
distal
2,103
rs12006435
0.001326
0.12423
71.118
intron_variant
dELS
ENSG00000186350
11,967
ENSG00000186350
19,142
11,967
ENSG00000186350
dELS
ENSG00000186350
12,171
ENSG00000186350
21,528
12,171
ENSG00000186350
distal
NA
NA
9
134,378,370
G
T
false
tss_proximal
2,087
rs62576349
0.006709
0.24929
104
intron_variant
pELS
ENSG00000186350
924
ENSG00000263897
1,040
924
ENSG00000186350
tss_proximal
ENSG00000186350
924
ENSG00000263897
1,040
924
ENSG00000186350
tss_proximal
tss_prox:b1
tss_prox:b1
9
134,552,232
G
C
false
tss_proximal
2,117
rs3118521
0.000186
0.25952
33.484
upstream_gene_variant
pELS
ENSG00000130635
89,570
ENSG00000227150
505
505
ENSG00000227150
tss_proximal
ENSG00000130635
89,570
ENSG00000227150
505
505
ENSG00000227150
tss_proximal
tss_prox:b2
tss_prox:b2
9
134,552,452
C
G
false
tss_proximal
2,117
rs3132303
0.000209
0.25928
33.506
upstream_gene_variant
PLS_flank
ENSG00000130635
89,350
ENSG00000227150
285
285
ENSG00000227150
tss_proximal
ENSG00000130635
89,350
ENSG00000227150
285
285
ENSG00000227150
tss_proximal
tss_prox:b2
tss_prox:b2
9
134,658,390
G
A
false
distal
2,109
rs4598327
0.0001
0.24329
25.677
intron_variant
dELS
ENSG00000130635
16,093
ENSG00000130635
4,910
4,910
ENSG00000130635
dELS
ENSG00000130635
16,584
ENSG00000130635
5,204
5,204
ENSG00000130635
distal
NA
NA
9
134,864,516
T
C
false
distal
2,109
rs11103556
0.00003
0.23919
39.496
intergenic_variant
dELS
ENSG00000160339
16,293
ENSG00000232355
3,719
3,719
ENSG00000232355
dELS
ENSG00000160339
16,293
ENSG00000232355
3,719
3,719
ENSG00000232355
distal
NA
NA
9
134,864,650
A
G
false
distal
2,091
rs12235148
0.000041
0.30804
34.29
intergenic_variant
dELS
ENSG00000160339
16,159
ENSG00000232355
3,585
3,585
ENSG00000232355
dELS
ENSG00000160339
16,159
ENSG00000232355
3,585
3,585
ENSG00000232355
distal
NA
NA
9
134,889,940
C
G
false
distal
2,103
rs4472593
0.000135
0.11241
40.773
intergenic_variant
dELS
ENSG00000160339
2,416
ENSG00000232355
21,464
2,416
ENSG00000160339
dELS
ENSG00000160339
9,127
ENSG00000232355
21,703
9,127
ENSG00000160339
distal
NA
NA
9
134,890,095
T
G
false
distal
2,103
rs4545169
0.000148
0.11288
40.588
intergenic_variant
dELS
ENSG00000160339
2,571
ENSG00000232355
21,619
2,571
ENSG00000160339
dELS
ENSG00000160339
9,282
ENSG00000232355
21,858
9,282
ENSG00000160339
distal
NA
NA
9
134,916,437
C
T
false
missense_variant
2,075
rs10441778
0.000047
0.000085
11.829
missense_variant
missense_variant
ENSG00000085265
0
ENSG00000236403
20,086
0
ENSG00000085265
missense_variant
ENSG00000085265
1,474
ENSG00000236403
20,086
1,474
ENSG00000085265
missense_variant
NA
NA
9
134,932,694
A
G
false
distal
2,091
rs2382712
0.000635
0.31403
50.957
intergenic_variant
dELS
ENSG00000085265
14,781
ENSG00000236403
3,829
3,829
ENSG00000236403
dELS
ENSG00000085265
14,781
ENSG00000236403
3,829
3,829
ENSG00000236403
distal
NA
NA
9
134,932,767
T
G
false
distal
2,091
rs10858294
0.000114
0.31745
53.224
intergenic_variant
dELS
ENSG00000085265
14,854
ENSG00000236403
3,756
3,756
ENSG00000236403
dELS
ENSG00000085265
14,854
ENSG00000236403
3,756
3,756
ENSG00000236403
distal
NA
NA
9
135,125,602
T
C
false
distal
2,121
rs4841958
0.00083
0.33179
67.846
intergenic_variant
intergenic_variant
ENSG00000130558
4,421
ENSG00000130558
4,690
4,421
ENSG00000130558
intergenic_variant
ENSG00000130558
29,615
ENSG00000130558
19,961
19,961
ENSG00000130558
distal
NA
NA
9
135,125,793
A
T
false
distal
2,121
rs10858339
0.000907
0.33298
67.873
intergenic_variant
intergenic_variant
ENSG00000130558
4,612
ENSG00000130558
4,881
4,612
ENSG00000130558
intergenic_variant
ENSG00000130558
29,806
ENSG00000130558
20,152
20,152
ENSG00000130558
distal
NA
NA
9
135,125,938
G
A
false
distal
2,121
rs11103701
0.000893
0.333
67.876
intergenic_variant
intergenic_variant
ENSG00000130558
4,757
ENSG00000130558
5,026
4,757
ENSG00000130558
intergenic_variant
ENSG00000130558
29,951
ENSG00000130558
20,297
20,297
ENSG00000130558
distal
NA
NA
9
135,260,846
G
C
false
distal
2,092
rs7862572
0.000103
0.28519
8.8964
intergenic_variant
dELS
ENSG00000130558
139,665
ENSG00000233936
8,137
8,137
ENSG00000233936
dELS
ENSG00000130558
164,859
ENSG00000233936
8,137
8,137
ENSG00000233936
distal
NA
NA
9
135,289,634
A
G
false
distal
2,083
rs10776943
0.000082
0.25292
31.399
intergenic_variant
dELS_flank
ENSG00000130558
168,453
ENSG00000233936
36,925
36,925
ENSG00000233936
dELS_flank
ENSG00000196422
189,444
ENSG00000233936
36,925
36,925
ENSG00000233936
distal
NA
NA
9
135,289,661
A
G
false
distal
2,083
rs10858379
0.000071
0.25359
31.41
intergenic_variant
dELS_flank
ENSG00000130558
168,480
ENSG00000233936
36,952
36,952
ENSG00000233936
dELS_flank
ENSG00000196422
189,417
ENSG00000233936
36,952
36,952
ENSG00000233936
distal
NA
NA
9
135,289,802
G
A
false
distal
2,083
rs11103797
0.000078
0.21888
16.266
intergenic_variant
dELS_flank
ENSG00000130558
168,621
ENSG00000233936
37,093
37,093
ENSG00000233936
dELS_flank
ENSG00000196422
189,276
ENSG00000233936
37,093
37,093
ENSG00000233936
distal
NA
NA
9
135,478,767
C
T
false
tss_proximal
2,087
rs3762066
0.003744
0.24518
11.571
intron_variant
PLS_flank
ENSG00000196422
311
ENSG00000196422
910
311
ENSG00000196422
tss_proximal
ENSG00000196422
311
ENSG00000196422
910
311
ENSG00000196422
tss_proximal
tss_prox:b1
tss_prox:b1
9
135,483,052
T
C
false
tss_proximal
2,089
rs2777324
0.00103
0.20722
29.554
intron_variant
CA-H3K4me3_flank
ENSG00000196422
236
ENSG00000196422
236
236
ENSG00000196422
tss_proximal
ENSG00000196422
310
ENSG00000196422
369
310
ENSG00000196422
tss_proximal
tss_prox:b1
tss_prox:b1
9
135,484,751
G
A
false
missense_variant
2,071
rs150450440
0.000049
0.002227
2.7699
missense_variant
missense_variant
ENSG00000196422
0
ENSG00000196422
668
0
ENSG00000196422
missense_variant
ENSG00000196422
358
ENSG00000196422
2,068
358
ENSG00000196422
missense_variant
NA
NA
9
135,485,652
G
T
false
missense_variant
2,076
rs34151777
0.000131
0.073111
12.115
missense_variant
missense_variant
ENSG00000196422
0
ENSG00000196422
1,569
0
ENSG00000196422
missense_variant
ENSG00000196422
1,259
ENSG00000196422
2,969
1,259
ENSG00000196422
missense_variant
NA
NA
9
135,504,295
A
G
false
3_prime_UTR_variant
2,123
rs137948216
0.000036
0.016955
13.586
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000122140
0
ENSG00000122140
0
0
ENSG00000122140
3_prime_UTR_variant
ENSG00000160345
2,560
ENSG00000122140
1,720
1,720
ENSG00000122140
3_prime_UTR_variant
NA
NA
9
135,527,429
T
C
false
distal
2,110
rs56150492
0.00008
0.015723
25.444
downstream_gene_variant
dELS
ENSG00000160349
888
ENSG00000122136
18,709
888
ENSG00000160349
dELS
ENSG00000160349
5,988
ENSG00000122136
18,709
5,988
ENSG00000160349
distal
NA
NA
9
135,606,563
C
T
false
distal
2,098
rs71508804
0.000675
0.10185
25.054
intron_variant
dELS
ENSG00000236543
7,619
ENSG00000236543
1,098
1,098
ENSG00000236543
dELS
ENSG00000236543
7,619
ENSG00000236543
2,217
2,217
ENSG00000236543
distal
NA
NA
9
135,714,314
T
G
false
tss_proximal
2,088
rs11103145
0.000448
0.15254
33.75
intron_variant
PLS
ENSG00000107147
143
ENSG00000107147
262
143
ENSG00000107147
tss_proximal
ENSG00000107147
143
ENSG00000165643
9,815
143
ENSG00000107147
tss_proximal
tss_prox:b1
tss_prox:b1
9
135,879,489
A
C
false
distal
2,093
rs10124172
0.005724
0.14279
54.285
intron_variant
dELS
ENSG00000130559
2,143
ENSG00000130559
2,143
2,143
ENSG00000130559
dELS
ENSG00000130559
3,407
ENSG00000130559
2,228
2,228
ENSG00000130559
distal
NA
NA
9
135,879,499
A
G
false
distal
2,093
rs10124174
0.005141
0.14253
54.195
intron_variant
dELS
ENSG00000130559
2,133
ENSG00000130559
2,133
2,133
ENSG00000130559
dELS
ENSG00000130559
3,397
ENSG00000130559
2,218
2,218
ENSG00000130559
distal
NA
NA
9
135,927,769
C
A
false
distal
2,097
rs62585224
0.00027
0.16706
34.305
intergenic_variant
dELS
ENSG00000130560
5,199
ENSG00000130560
5,272
5,199
ENSG00000130560
dELS
ENSG00000130559
20,222
ENSG00000130560
17,293
17,293
ENSG00000130560
distal
NA
NA
9
136,200,552
C
T
false
non_coding_transcript_exon_variant
2,056
rs75290716
0.000537
0.069575
21.789
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000107187
29
ENSG00000107187
0
0
ENSG00000107187
non_coding_transcript_exon_variant
ENSG00000107187
1,121
ENSG00000107187
2,595
1,121
ENSG00000107187
non_coding_transcript_exon_variant
NA
NA
9
136,213,383
T
C
true
distal
2,086
rs3824359
0.96413
Height
0.14224
38.221
intron_variant
dELS_flank
ENSG00000165661
1,770
ENSG00000107187
10,234
1,770
ENSG00000165661
dELS_flank
ENSG00000107187
8,254
ENSG00000107187
10,234
8,254
ENSG00000107187
distal
NA
NA
9
136,218,808
C
T
true
splicing
2,129
rs12684650
0.98592
Height
0.31879
46.291
splice_region_variant
splice_region_variant
ENSG00000165661
0
ENSG00000107187
15,659
0
ENSG00000165661
splice_region_variant
ENSG00000165661
6,068
ENSG00000107187
15,659
6,068
ENSG00000165661
splicing
NA
splicing:b0
9
136,231,295
C
T
false
distal
2,110
rs111342255
0.00017
0.012669
7.8069
intron_variant
dELS
ENSG00000165661
4,420
ENSG00000279813
18,682
4,420
ENSG00000165661
dELS
ENSG00000165661
6,417
ENSG00000279813
18,682
6,417
ENSG00000165661
distal
NA
NA
9
136,231,853
C
T
false
distal
2,110
rs377195900
0.000409
0.021203
59.222
intron_variant
dELS
ENSG00000165661
4,978
ENSG00000279813
18,124
4,978
ENSG00000165661
dELS
ENSG00000165661
6,975
ENSG00000279813
18,124
6,975
ENSG00000165661
distal
NA
NA
9
136,254,297
A
C
false
missense_variant
2,080
rs34263479
0.009503
0.15939
26.838
missense_variant
missense_variant
ENSG00000260220
0
ENSG00000279813
3,091
0
ENSG00000260220
missense_variant
ENSG00000165661
8,484
ENSG00000279813
4,318
4,318
ENSG00000279813
missense_variant
NA
NA
9
136,399,391
A
G
false
tss_proximal
2,087
rs11145889
0.00202
0.25222
140.89
intron_variant
PLS_flank
ENSG00000165684
593
ENSG00000165684
742
593
ENSG00000165684
tss_proximal
ENSG00000165684
593
ENSG00000165684
778
593
ENSG00000165684
tss_proximal
tss_prox:b1
tss_prox:b1
9
136,399,399
C
G
false
tss_proximal
2,087
rs11145890
0.001989
0.25222
140.89
intron_variant
PLS_flank
ENSG00000165684
601
ENSG00000165684
734
601
ENSG00000165684
tss_proximal
ENSG00000165684
601
ENSG00000165684
770
601
ENSG00000165684
tss_proximal
tss_prox:b1
tss_prox:b1
9
136,405,185
C
T
false
missense_variant
2,079
rs3812577
0.006562
0.13445
95.821
missense_variant
missense_variant
ENSG00000165689
0
ENSG00000165689
0
0
ENSG00000165689
missense_variant
ENSG00000165689
1,999
ENSG00000165689
162
162
ENSG00000165689
missense_variant
NA
NA
9
136,510,525
C
T
false
non_coding_transcript_exon_variant
2,057
rs143369696
0.000189
0.018148
63.376
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000148400
127
ENSG00000148400
0
0
ENSG00000148400
non_coding_transcript_exon_variant
ENSG00000148400
2,322
ENSG00000148400
1,181
1,181
ENSG00000148400
non_coding_transcript_exon_variant
NA
NA
9
136,755,160
C
A
false
missense_variant
2,079
rs2282258
0.000234
0.13665
117.46
missense_variant
missense_variant
ENSG00000204001
0
ENSG00000204001
0
0
ENSG00000204001
missense_variant
ENSG00000204001
3,082
ENSG00000204001
1,894
1,894
ENSG00000204001
missense_variant
NA
NA
9
136,796,388
G
A
false
5_prime_UTR_variant
2,052
rs1055995
0.000903
0.37316
96.136
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000213213
0
ENSG00000213213
0
0
ENSG00000213213
5_prime_UTR_variant
ENSG00000213213
49
ENSG00000213213
27
27
ENSG00000213213
5_prime_UTR_variant
NA
NA
9
136,941,106
C
T
false
missense_variant
2,070
9:139835558:C:T
0.000094
0.022979
16.245
missense_variant
missense_variant
ENSG00000159069
0
ENSG00000159069
0
0
ENSG00000159069
missense_variant
ENSG00000159069
3,427
ENSG00000159069
1,561
1,561
ENSG00000159069
missense_variant
NA
NA
9
136,994,710
C
A
false
missense_variant
2,070
9:139889162:C:A
0.000062
0.021322
18.002
missense_variant
missense_variant
ENSG00000169583
0
ENSG00000169583
0
0
ENSG00000169583
missense_variant
ENSG00000169583
1,857
ENSG00000169583
1,036
1,036
ENSG00000169583
missense_variant
NA
NA
9
137,021,090
C
T
false
tss_proximal
2,130
9:139915542:C:T
0.001
0.072837
50.144
intron_variant
dELS_flank
ENSG00000107331
28
ENSG00000107331
28
28
ENSG00000107331
tss_proximal
ENSG00000107331
7,146
ENSG00000107331
284
284
ENSG00000107331
tss_proximal
tss_prox:b2
tss_prox:b0
9
137,022,427
C
T
false
missense_variant
2,076
9:139916879:C:T
0.001054
0.073101
49.774
missense_variant
missense_variant
ENSG00000107331
0
ENSG00000107331
0
0
ENSG00000107331
missense_variant
ENSG00000107331
5,809
ENSG00000107331
1,621
1,621
ENSG00000107331
missense_variant
NA
NA
9
137,023,143
G
A
false
non_coding_transcript_exon_variant
2,056
9:139917595:G:A
0.001225
0.072262
50.33
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000107331
90
ENSG00000107331
0
0
ENSG00000107331
non_coding_transcript_exon_variant
ENSG00000107331
5,093
ENSG00000107331
2,337
2,337
ENSG00000107331
non_coding_transcript_exon_variant
NA
NA
9
137,031,038
C
T
false
missense_variant
2,071
9:139925490:C:T
0.000082
0.002214
3.6728
missense_variant
missense_variant
ENSG00000180549
0
ENSG00000180539
959
0
ENSG00000180549
missense_variant
ENSG00000180549
1,049
ENSG00000107331
2,122
1,049
ENSG00000180549
missense_variant
NA
NA
9
137,048,292
G
A
false
3_prime_UTR_variant
2,123
9:139942744:G:A
0.000687
0.018547
23.662
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000054179
0
ENSG00000054179
0
0
ENSG00000054179
3_prime_UTR_variant
ENSG00000107281
2,114
ENSG00000054179
1,320
1,320
ENSG00000054179
3_prime_UTR_variant
NA
NA
9
137,049,097
G
A
false
non_coding_transcript_exon_variant
2,058
9:139943549:G:A
0.000268
0.0961
49.518
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000054179
21
ENSG00000054179
0
0
ENSG00000054179
non_coding_transcript_exon_variant
ENSG00000107281
2,919
ENSG00000054179
515
515
ENSG00000054179
non_coding_transcript_exon_variant
NA
NA
9
137,065,557
G
A
false
missense_variant
2,071
9:139960009:G:A
0.000099
0.000395
34.574
missense_variant
missense_variant
ENSG00000186193
0
ENSG00000231864
975
0
ENSG00000186193
missense_variant
ENSG00000186193
4,999
ENSG00000231864
2,021
2,021
ENSG00000231864
missense_variant
NA
NA
9
137,105,663
C
T
false
missense_variant
2,065
9:140000115:C:T
0.009673
0.37734
79.696
missense_variant
missense_variant
ENSG00000177239
461
ENSG00000177239
0
0
ENSG00000177239
missense_variant
ENSG00000176978
7,448
ENSG00000177239
237
237
ENSG00000177239
missense_variant
NA
NA
9
137,169,924
G
A
false
missense_variant
2,076
9:140064376:G:A
0.000581
0.084003
26.091
missense_variant
missense_variant
ENSG00000184709
0
ENSG00000263697
653
0
ENSG00000184709
missense_variant
ENSG00000184709
126
ENSG00000263697
653
126
ENSG00000184709
missense_variant
NA
NA
9
137,200,506
C
T
false
missense_variant
2,078
9:140094958:C:T
0.000333
0.001278
5.6838
missense_variant
missense_variant
ENSG00000176058
0
ENSG00000176058
3,597
0
ENSG00000176058
missense_variant
ENSG00000176058
234
ENSG00000176058
3,686
234
ENSG00000176058
missense_variant
NA
NA
9
137,200,596
G
A
false
missense_variant
2,078
9:140095048:G:A
0.000105
0.000734
4.6452
missense_variant
missense_variant
ENSG00000176058
0
ENSG00000176058
3,507
0
ENSG00000176058
missense_variant
ENSG00000176058
144
ENSG00000176058
3,596
144
ENSG00000176058
missense_variant
NA
NA
9
137,205,865
C
G
true
missense_variant
2,079
9:140100317:C:G
1
HbA1c,MCH,MCV
0.1312
28.388
missense_variant
missense_variant
ENSG00000188566
0
ENSG00000188566
0
0
ENSG00000188566
missense_variant
ENSG00000188566
114
ENSG00000188566
166
114
ENSG00000188566
missense_variant
NA
NA