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
1
109,050,011
C
G
false
distal
20
rs112857853
0.000164
0.045226
34.519
intergenic_variant
dELS_flank
ENSG00000085433
7,897
ENSG00000228054
2,528
2,528
ENSG00000228054
dELS_flank
ENSG00000085433
7,897
ENSG00000228054
3,182
3,182
ENSG00000228054
distal
NA
NA
1
109,064,641
A
G
false
missense_variant
90
rs183456650
0.000751
0.000223
2.7884
missense_variant
missense_variant
ENSG00000197780
0
ENSG00000228054
17,158
0
ENSG00000197780
missense_variant
ENSG00000197780
11,361
ENSG00000228054
17,812
11,361
ENSG00000197780
missense_variant
NA
NA
1
109,221,302
G
A
false
distal
19
rs1277928
0.000436
0.112
47.389
intron_variant
dELS_flank
ENSG00000031698
2,675
ENSG00000031698
2,675
2,675
ENSG00000031698
dELS_flank
ENSG00000031698
7,319
ENSG00000031698
7,333
7,319
ENSG00000031698
distal
NA
NA
1
109,236,451
G
A
false
missense_variant
94
rs140717526
0.000258
0.013617
18.23
missense_variant
missense_variant
ENSG00000031698
0
ENSG00000031698
0
0
ENSG00000031698
missense_variant
ENSG00000143126
13,087
ENSG00000031698
219
219
ENSG00000031698
missense_variant
NA
NA
1
109,274,968
G
T
true
3_prime_UTR_variant
132
rs12740374
0.997445
ApoB,LDLC
0.22152
59.895
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000143126
0
ENSG00000143126
0
0
ENSG00000143126
3_prime_UTR_variant
ENSG00000134222
6,710
ENSG00000143126
4,143
4,143
ENSG00000143126
3_prime_UTR_variant
NA
NA
1
109,293,597
G
A
false
distal
11
rs11102968
0.000326
0.37448
58.138
intron_variant
dELS_flank
ENSG00000221986
608
ENSG00000221986
591
591
ENSG00000221986
dELS_flank
ENSG00000134222
10,410
ENSG00000221986
2,755
2,755
ENSG00000221986
distal
NA
NA
1
109,293,840
A
G
false
distal
11
rs1764833
0.00036
0.37551
58.404
intron_variant
dELS_flank
ENSG00000221986
365
ENSG00000221986
365
365
ENSG00000221986
dELS_flank
ENSG00000134222
10,653
ENSG00000221986
2,512
2,512
ENSG00000221986
distal
NA
NA
1
109,427,099
A
G
false
tss_proximal
144
rs4970754
0.000524
0.28589
249.65
upstream_gene_variant
pELS
ENSG00000143106
650
ENSG00000143106
671
650
ENSG00000143106
tss_proximal
ENSG00000143106
650
ENSG00000143106
671
650
ENSG00000143106
tss_proximal
tss_prox:b1
tss_prox:b1
1
109,688,145
G
A
false
5_prime_UTR_variant
129
rs10857795
0.001453
0.07395
31.115
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000134184
0
ENSG00000134184
24
0
ENSG00000134184
5_prime_UTR_variant
ENSG00000134184
286
ENSG00000134184
288
286
ENSG00000134184
5_prime_UTR_variant
NA
NA
1
109,690,361
A
G
true
missense_variant
88
rs140584594
1
ALT,AST,ApoA,ApoB,HDLC,Mono,Plt,SHBG,TBil
0.26935
32.278
missense_variant
missense_variant
ENSG00000134184
0
ENSG00000134184
1,035
0
ENSG00000134184
missense_variant
ENSG00000134184
2,502
ENSG00000134184
2,504
2,502
ENSG00000134184
missense_variant
NA
NA
1
109,759,883
G
A
false
missense_variant
108
rs77854863
0.006725
0.064152
24.02
missense_variant
missense_variant
ENSG00000198758
46
ENSG00000198758
0
0
ENSG00000198758
missense_variant
ENSG00000198758
4,039
ENSG00000198758
291
291
ENSG00000198758
missense_variant
NA
NA
1
109,766,112
C
T
false
distal
56
rs76073921
0.000107
0.22141
57.727
intron_variant
dELS
ENSG00000198758
2,084
ENSG00000198758
2,188
2,084
ENSG00000198758
dELS
ENSG00000198758
2,084
ENSG00000198758
2,188
2,084
ENSG00000198758
distal
NA
NA
1
109,766,378
G
T
false
distal
56
rs75733477
0.000112
0.2215
57.722
intron_variant
dELS
ENSG00000198758
2,350
ENSG00000198758
2,454
2,350
ENSG00000198758
dELS
ENSG00000198758
2,350
ENSG00000198758
2,454
2,350
ENSG00000198758
distal
NA
NA
1
109,928,142
G
A
true
distal
51
rs333947
1
AST,Alb,Lym,Mono,Plt,TP,WBC,eGFRcys
0.14939
27.532
intron_variant
dELS
ENSG00000184371
709
ENSG00000184371
5,592
709
ENSG00000184371
dELS
ENSG00000184371
17,155
ENSG00000184371
12,484
12,484
ENSG00000184371
distal
NA
NA
1
109,934,644
A
G
false
distal
1
rs12134543
0.000685
0.2022
51.686
intergenic_variant
dELS_flank
ENSG00000184371
3,651
ENSG00000184371
12,094
3,651
ENSG00000184371
dELS_flank
ENSG00000184371
23,657
ENSG00000184371
18,986
18,986
ENSG00000184371
distal
NA
NA
1
109,936,181
T
C
false
distal
1
rs6537885
0.002886
0.21664
39.328
intergenic_variant
dELS_flank
ENSG00000184371
5,188
ENSG00000184371
13,631
5,188
ENSG00000184371
dELS_flank
ENSG00000184371
25,194
ENSG00000184371
20,523
20,523
ENSG00000184371
distal
NA
NA
1
109,965,679
C
T
false
distal
17
rs181520088
0.002987
0.012432
11.356
intergenic_variant
dELS_flank
ENSG00000168710
19,085
ENSG00000168710
19,335
19,085
ENSG00000168710
dELS_flank
ENSG00000168710
19,085
ENSG00000168710
19,335
19,085
ENSG00000168710
distal
NA
NA
1
110,070,303
G
A
false
tss_proximal
190
rs2274568
0.005621
0.41895
88.015
intron_variant
PLS_flank
ENSG00000156150
32
ENSG00000143093
2,151
32
ENSG00000156150
tss_proximal
ENSG00000156150
368
ENSG00000258634
11,962
368
ENSG00000156150
tss_proximal
tss_prox:b1
tss_prox:b0
1
110,199,880
A
G
false
3_prime_UTR_variant
131
rs2361044
0.00016
0.49343
59.758
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000197106
0
ENSG00000197106
4,891
0
ENSG00000197106
3_prime_UTR_variant
ENSG00000116396
10,433
ENSG00000197106
7,311
7,311
ENSG00000197106
3_prime_UTR_variant
NA
NA
1
110,199,993
A
G
false
3_prime_UTR_variant
131
rs12133992
0.000103
0.48874
60.07
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000197106
0
ENSG00000197106
5,004
0
ENSG00000197106
3_prime_UTR_variant
ENSG00000116396
10,320
ENSG00000197106
7,424
7,424
ENSG00000197106
3_prime_UTR_variant
NA
NA
1
110,223,832
G
A
false
missense_variant
83
rs59123361
0.001072
0.10279
24.31
missense_variant
missense_variant
ENSG00000116396
0
ENSG00000116396
0
0
ENSG00000116396
missense_variant
ENSG00000116396
1
ENSG00000116396
4,115
1
ENSG00000116396
missense_variant
NA
NA
1
110,381,731
G
A
false
missense_variant
103
rs3738750
0.002919
0.17729
121.61
missense_variant
missense_variant
ENSG00000168679
0
ENSG00000168679
0
0
ENSG00000168679
missense_variant
ENSG00000168679
2,547
ENSG00000224699
1,087
1,087
ENSG00000224699
missense_variant
NA
NA
1
110,456,232
G
A
false
missense_variant
92
rs7514102
0.000395
0.41521
66.889
missense_variant
missense_variant
ENSG00000143125
0
ENSG00000270380
272
0
ENSG00000143125
missense_variant
ENSG00000143125
5,082
ENSG00000270380
1,121
1,121
ENSG00000270380
missense_variant
NA
NA
1
110,606,367
C
A
false
5_prime_UTR_variant
129
rs3860224
0.000253
0.074752
85.246
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000177301
0
ENSG00000177301
12
0
ENSG00000177301
5_prime_UTR_variant
ENSG00000177301
8
ENSG00000177301
12
8
ENSG00000177301
5_prime_UTR_variant
NA
NA
1
110,607,794
T
G
false
5_prime_UTR_variant
129
rs4839537
0.000227
0.074364
85.976
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000177301
0
ENSG00000177301
164
0
ENSG00000177301
5_prime_UTR_variant
ENSG00000177301
21
ENSG00000177301
164
21
ENSG00000177301
5_prime_UTR_variant
NA
NA
1
110,813,313
T
C
false
distal
157
rs343764
0.007193
0.24688
100.53
intergenic_variant
intergenic_variant
ENSG00000143119
57,874
ENSG00000237415
34,763
34,763
ENSG00000237415
intergenic_variant
ENSG00000143119
57,874
ENSG00000237415
35,627
35,627
ENSG00000237415
distal
NA
NA
1
110,813,670
C
T
false
distal
157
rs343765
0.000368
0.25748
144.34
intergenic_variant
intergenic_variant
ENSG00000143119
57,517
ENSG00000237415
34,406
34,406
ENSG00000237415
intergenic_variant
ENSG00000143119
57,517
ENSG00000237415
35,270
35,270
ENSG00000237415
distal
NA
NA
1
110,861,433
T
G
false
distal
0
rs6693583
0.001312
0.32384
175.2
intergenic_variant
dELS_flank
ENSG00000143119
9,754
ENSG00000232791
6,540
6,540
ENSG00000232791
dELS_flank
ENSG00000143119
9,754
ENSG00000232791
7,493
7,493
ENSG00000232791
distal
NA
NA
1
111,027,945
T
C
false
distal
161
rs4838885
0.000166
0.37792
108.59
intergenic_variant
intergenic_variant
ENSG00000121931
63,979
ENSG00000225672
12,414
12,414
ENSG00000225672
intergenic_variant
ENSG00000121931
63,979
ENSG00000225672
12,414
12,414
ENSG00000225672
distal
NA
NA
1
111,028,092
C
T
false
distal
161
rs56018148
0.000163
0.37783
108.61
intergenic_variant
intergenic_variant
ENSG00000121931
64,126
ENSG00000225672
12,561
12,561
ENSG00000225672
intergenic_variant
ENSG00000121931
64,126
ENSG00000225672
12,561
12,561
ENSG00000225672
distal
NA
NA
1
111,041,068
A
C
false
tss_proximal
180
rs60673371
0.000699
0.03055
126.06
upstream_gene_variant
pELS_flank
ENSG00000156171
76,094
ENSG00000252760
765
765
ENSG00000252760
tss_proximal
ENSG00000121931
77,102
ENSG00000252760
765
765
ENSG00000252760
tss_proximal
tss_prox:b2
tss_prox:b2
1
111,197,723
C
G
true
non_coding_transcript_exon_variant
120
rs599134
1
HbA1c,Plt
0.22484
29.677
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000162777
196
ENSG00000162777
0
0
ENSG00000162777
non_coding_transcript_exon_variant
ENSG00000162777
2,922
ENSG00000162777
2,397
2,397
ENSG00000162777
non_coding_transcript_exon_variant
NA
NA
1
111,198,320
G
A
false
distal
55
rs610261
0.000061
0.15374
14.186
intron_variant
dELS
ENSG00000162777
309
ENSG00000162777
309
309
ENSG00000162777
dELS
ENSG00000162777
2,325
ENSG00000162777
1,800
1,800
ENSG00000162777
distal
NA
NA
1
111,200,846
A
T
false
5_prime_UTR_variant
128
rs17027081
0.000006
0.001076
93.58
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000064886
0
ENSG00000162777
299
0
ENSG00000064886
5_prime_UTR_variant
ENSG00000064886
74
ENSG00000162777
299
74
ENSG00000064886
5_prime_UTR_variant
NA
NA
1
111,242,504
C
T
false
3_prime_UTR_variant
133
rs6668814
0.000125
0.090588
56.78
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000064886
0
ENSG00000064886
137
0
ENSG00000064886
3_prime_UTR_variant
ENSG00000064886
3,576
ENSG00000064886
3,197
3,197
ENSG00000064886
3_prime_UTR_variant
NA
NA
1
111,319,352
T
C
false
missense_variant
101
rs2275254
0.000081
0.41582
78.143
missense_variant
missense_variant
ENSG00000134216
0
ENSG00000134216
0
0
ENSG00000134216
missense_variant
ENSG00000134216
8,874
ENSG00000232240
4,480
4,480
ENSG00000232240
missense_variant
NA
NA
1
111,450,201
G
T
false
tss_proximal
143
rs1264898
0.000058
0.40884
130.2
intron_variant
pELS
ENSG00000116459
327
ENSG00000116459
327
327
ENSG00000116459
tss_proximal
ENSG00000116459
716
ENSG00000116459
518
518
ENSG00000116459
tss_proximal
tss_prox:b1
tss_prox:b1
1
111,477,166
A
G
false
distal
40
rs74109580
0.000098
0.024138
24.766
intron_variant
dELS
ENSG00000143110
167
ENSG00000143110
87
87
ENSG00000143110
dELS
ENSG00000143110
3,181
ENSG00000143110
2,597
2,597
ENSG00000143110
distal
NA
NA
1
111,477,601
C
A
false
distal
40
rs2298189
0.000084
0.021538
20.688
intron_variant
dELS
ENSG00000143110
49
ENSG00000143110
381
49
ENSG00000143110
dELS
ENSG00000143110
3,616
ENSG00000143110
3,032
3,032
ENSG00000143110
distal
NA
NA
1
111,600,500
G
A
false
distal
44
rs181978233
0.000034
0.001777
17.973
intron_variant
dELS
ENSG00000116473
19,276
ENSG00000231346
404
404
ENSG00000231346
dELS
ENSG00000116473
19,276
ENSG00000231346
7,817
7,817
ENSG00000231346
distal
NA
NA
1
111,600,939
C
T
false
distal
44
rs17028083
0.000364
0.00552
13.975
intron_variant
dELS
ENSG00000116473
18,837
ENSG00000231346
843
843
ENSG00000231346
dELS
ENSG00000116473
18,837
ENSG00000231346
7,378
7,378
ENSG00000231346
distal
NA
NA
1
111,601,074
A
G
false
distal
44
rs2800884
0
0.00089
9.0263
intron_variant
dELS
ENSG00000116473
18,702
ENSG00000231346
978
978
ENSG00000231346
dELS
ENSG00000116473
18,702
ENSG00000231346
7,243
7,243
ENSG00000231346
distal
NA
NA
1
111,601,123
T
C
false
distal
44
rs746769196
0.00011
0.001536
11.361
intron_variant
dELS
ENSG00000116473
18,653
ENSG00000231346
1,027
1,027
ENSG00000231346
dELS
ENSG00000116473
18,653
ENSG00000231346
7,194
7,194
ENSG00000231346
distal
NA
NA
1
111,633,377
A
G
false
distal
9
rs17028134
0.000236
0.056605
92.059
intron_variant
dELS_flank
ENSG00000116473
5,813
ENSG00000116473
5,817
5,813
ENSG00000116473
dELS_flank
ENSG00000116473
13,587
ENSG00000116473
5,907
5,907
ENSG00000116473
distal
NA
NA
1
111,863,560
T
G
false
distal
53
rs78216256
0.000097
0.045686
28.34
intron_variant
dELS
ENSG00000171385
76,453
ENSG00000232558
6,654
6,654
ENSG00000232558
dELS
ENSG00000064703
107,629
ENSG00000232558
6,654
6,654
ENSG00000232558
distal
NA
NA
1
112,600,798
T
C
false
missense_variant
73
rs116580400
0.000125
0.016435
16.29
missense_variant
missense_variant
ENSG00000007341
0
ENSG00000007341
0
0
ENSG00000007341
missense_variant
ENSG00000007341
10,107
ENSG00000007341
10,163
10,107
ENSG00000007341
missense_variant
NA
NA
1
112,955,448
G
C
false
5_prime_UTR_variant
125
rs41283086
0.000226
0.012249
42.508
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000155380
0
ENSG00000155380
0
0
ENSG00000155380
5_prime_UTR_variant
ENSG00000155380
614
ENSG00000155380
545
545
ENSG00000155380
5_prime_UTR_variant
NA
NA
1
113,126,295
A
C
false
3_prime_UTR_variant
134
rs10494151
0.000072
0.046535
102.38
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000198799
0
ENSG00000198799
0
0
ENSG00000198799
3_prime_UTR_variant
ENSG00000198799
53,096
ENSG00000237278
587
587
ENSG00000237278
3_prime_UTR_variant
NA
NA
1
113,201,259
G
A
false
distal
23
rs1819247
0.000297
0.49667
75.414
intergenic_variant
dELS_flank
ENSG00000198799
68,998
ENSG00000236887
2,000
2,000
ENSG00000236887
dELS_flank
ENSG00000198799
128,060
ENSG00000236887
2,433
2,433
ENSG00000236887
distal
NA
NA
1
113,732,812
T
C
false
distal
167
rs61817586
0.001012
0.30447
220.39
intron_variant
CA_flank
ENSG00000116793
5,297
ENSG00000116793
5,297
5,297
ENSG00000116793
CA_flank
ENSG00000116793
19,483
ENSG00000116793
5,455
5,455
ENSG00000116793
distal
NA
NA
1
113,811,764
G
T
false
missense_variant
110
rs200218368
0.000037
0.000663
8.9545
missense_variant
missense_variant
ENSG00000081019
0
ENSG00000081019
0
0
ENSG00000081019
missense_variant
ENSG00000081019
524
ENSG00000081019
528
524
ENSG00000081019
missense_variant
NA
NA
1
113,811,803
G
A
false
missense_variant
72
rs542480289
0.000109
0.004398
19.119
missense_variant
missense_variant
ENSG00000081019
0
ENSG00000081019
0
0
ENSG00000081019
missense_variant
ENSG00000081019
485
ENSG00000081019
489
485
ENSG00000081019
missense_variant
NA
NA
1
113,834,946
A
G
true
missense_variant
89
rs2476601
0.973905
Lym,WBC
0.10221
135.83
missense_variant
missense_variant
ENSG00000134242
0
ENSG00000134242
0
0
ENSG00000134242
missense_variant
ENSG00000081019
22,469
ENSG00000231128
11,532
11,532
ENSG00000231128
missense_variant
NA
NA
1
113,905,767
C
T
false
missense_variant
103
rs11552449
0.00011
0.17475
193.06
missense_variant
missense_variant
ENSG00000118655
0
ENSG00000118655
0
0
ENSG00000118655
missense_variant
ENSG00000118655
440
ENSG00000118655
357
357
ENSG00000118655
missense_variant
NA
NA
1
113,930,545
A
G
false
5_prime_UTR_variant
127
rs115843554
0.000657
0.011198
42.314
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000163349
0
ENSG00000235527
1,049
0
ENSG00000163349
5_prime_UTR_variant
ENSG00000163349
39
ENSG00000235527
1,049
39
ENSG00000163349
5_prime_UTR_variant
NA
NA
1
113,986,119
G
C
false
distal
45
rs1806763
0.001474
0.12411
81.603
intron_variant
dELS
ENSG00000116774
3,864
ENSG00000116774
3,864
3,864
ENSG00000116774
dELS
ENSG00000116774
6,644
ENSG00000116774
5,618
5,618
ENSG00000116774
distal
NA
NA
1
114,061,288
A
G
false
distal
189
rs115625794
0.000034
0.008496
30.026
intergenic_variant
CA-H3K4me3
ENSG00000134207
28,003
ENSG00000116774
25,715
25,715
ENSG00000116774
CA-H3K4me3
ENSG00000116774
81,813
ENSG00000282048
28,910
28,910
ENSG00000282048
distal
NA
NA
1
114,152,870
C
G
false
5_prime_UTR_variant
127
rs577009476
0.000036
0.009036
12.154
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000134207
0
ENSG00000134207
739
0
ENSG00000134207
5_prime_UTR_variant
ENSG00000134207
46
ENSG00000134207
979
46
ENSG00000134207
5_prime_UTR_variant
NA
NA
1
114,395,553
C
T
false
3_prime_UTR_variant
134
rs1125002
0.000039
0.046478
55.403
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000197323
0
ENSG00000197323
704
0
ENSG00000197323
3_prime_UTR_variant
ENSG00000197323
67,682
ENSG00000197323
2,284
2,284
ENSG00000197323
3_prime_UTR_variant
NA
NA
1
114,583,794
C
T
false
3_prime_UTR_variant
135
rs60576253
0.000162
0.049129
133.78
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000175984
0
ENSG00000175984
191
0
ENSG00000175984
3_prime_UTR_variant
ENSG00000116752
2,178
ENSG00000116752
2,164
2,164
ENSG00000116752
3_prime_UTR_variant
NA
NA
1
114,625,819
T
G
false
missense_variant
81
rs61752477
0.000266
0.033082
400.87
missense_variant
missense_variant
ENSG00000175984
0
ENSG00000175984
0
0
ENSG00000175984
missense_variant
ENSG00000175984
373
ENSG00000175984
493
373
ENSG00000175984
missense_variant
NA
NA
1
115,220,359
G
C
false
distal
5
rs11808059
0.001338
0.062771
225.84
intergenic_variant
dELS_flank
ENSG00000134259
65,544
ENSG00000285698
50,407
50,407
ENSG00000285698
dELS_flank
ENSG00000134259
68,661
ENSG00000228035
62,674
62,674
ENSG00000228035
distal
NA
NA
1
115,364,094
A
C
false
tss_proximal
176
rs4144396
0.000019
0.46828
63.261
intron_variant
pELS_flank
ENSG00000134259
25,323
ENSG00000287103
508
508
ENSG00000287103
tss_proximal
ENSG00000134259
25,323
ENSG00000287103
802
802
ENSG00000287103
tss_proximal
tss_prox:b2
tss_prox:b2
1
115,577,294
A
G
false
non_coding_transcript_exon_variant
119
rs3017158
0.000117
0.05011
121.75
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000173218
64,675
ENSG00000270631
0
0
ENSG00000270631
non_coding_transcript_exon_variant
ENSG00000173218
64,675
ENSG00000270631
491
491
ENSG00000270631
non_coding_transcript_exon_variant
NA
NA
1
115,632,788
G
C
false
distal
27
rs4424508
0.000033
0.23877
114.99
intergenic_variant
dELS
ENSG00000173218
9,181
ENSG00000207502
10,782
9,181
ENSG00000173218
dELS
ENSG00000173218
9,181
ENSG00000207502
10,782
9,181
ENSG00000173218
distal
NA
NA
1
115,633,031
C
T
false
distal
27
rs4839465
0.000033
0.23879
115.01
intergenic_variant
dELS
ENSG00000173218
8,938
ENSG00000207502
11,025
8,938
ENSG00000173218
dELS
ENSG00000173218
8,938
ENSG00000207502
11,025
8,938
ENSG00000173218
distal
NA
NA
1
115,640,954
G
C
false
distal
150
rs78503868
0.000052
0.059646
80.68
intergenic_variant
pELS
ENSG00000173218
1,015
ENSG00000207502
18,948
1,015
ENSG00000173218
pELS
ENSG00000173218
1,015
ENSG00000207502
18,948
1,015
ENSG00000173218
distal
NA
NA
1
115,671,808
C
T
false
tss_proximal
175
rs77797301
0.000062
0.049267
49.728
intron_variant
dELS
ENSG00000173218
7,539
ENSG00000173218
470
470
ENSG00000173218
tss_proximal
ENSG00000173218
20,405
ENSG00000173218
663
663
ENSG00000173218
tss_proximal
tss_prox:b2
tss_prox:b2
1
115,791,152
C
A
false
distal
31
rs12040622
0.000012
0.29879
95.086
intergenic_variant
dELS
ENSG00000118729
22,437
ENSG00000118729
58,224
22,437
ENSG00000118729
dELS
ENSG00000118729
22,437
ENSG00000118729
58,224
22,437
ENSG00000118729
distal
NA
NA
1
115,791,195
C
G
false
distal
31
rs12040653
0.000015
0.29482
97.053
intergenic_variant
dELS
ENSG00000118729
22,480
ENSG00000118729
58,267
22,480
ENSG00000118729
dELS
ENSG00000118729
22,480
ENSG00000118729
58,267
22,480
ENSG00000118729
distal
NA
NA
1
115,791,973
C
A
false
distal
31
rs4279854
0.000015
0.2947
96.989
intergenic_variant
dELS
ENSG00000118729
23,258
ENSG00000118729
59,045
23,258
ENSG00000118729
dELS
ENSG00000118729
23,258
ENSG00000118729
59,045
23,258
ENSG00000118729
distal
NA
NA
1
115,792,085
C
T
false
distal
31
rs4281325
0.000015
0.29472
96.985
intergenic_variant
dELS
ENSG00000118729
23,370
ENSG00000118729
59,157
23,370
ENSG00000118729
dELS
ENSG00000118729
23,370
ENSG00000118729
59,157
23,370
ENSG00000118729
distal
NA
NA
1
115,814,031
A
G
false
distal
61
rs2811582
0.000047
0.01553
65.074
intergenic_variant
dELS
ENSG00000177551
22,345
ENSG00000214204
42,878
22,345
ENSG00000177551
dELS
ENSG00000177551
26,709
ENSG00000214204
43,787
26,709
ENSG00000177551
distal
NA
NA
1
116,297,935
C
T
false
tss_proximal
180
rs114219961
0.000015
0.033423
13.971
upstream_gene_variant
PLS_flank
ENSG00000163399
74,732
ENSG00000287217
313
313
ENSG00000287217
tss_proximal
ENSG00000163399
74,732
ENSG00000287217
313
313
ENSG00000287217
tss_proximal
tss_prox:b2
tss_prox:b2
1
116,354,024
T
C
false
distal
17
rs10802185
0.000084
0.009764
96.437
intergenic_variant
dELS_flank
ENSG00000163399
18,643
ENSG00000163399
19,244
18,643
ENSG00000163399
dELS_flank
ENSG00000163399
18,643
ENSG00000163399
19,244
18,643
ENSG00000163399
distal
NA
NA
1
116,696,121
T
C
false
distal
22
rs573914192
0.000874
0.006202
10.617
intron_variant
dELS_flank
ENSG00000143061
28,365
ENSG00000203864
1,265
1,265
ENSG00000203864
dELS_flank
ENSG00000143061
28,365
ENSG00000203864
2,008
2,008
ENSG00000203864
distal
NA
NA
1
117,001,709
A
C
true
tss_proximal
173
rs12130298
0.999785
Neutro,WBC
0.076546
34.03
upstream_gene_variant
PLS
ENSG00000134256
40
ENSG00000134247
11,358
40
ENSG00000134256
tss_proximal
ENSG00000134256
40
ENSG00000134247
14,668
40
ENSG00000134256
tss_proximal
tss_prox:b0
tss_prox:b0
1
117,075,083
A
G
false
missense_variant
92
rs998532
0.00029
0.40501
71.535
missense_variant
missense_variant
ENSG00000116830
0
ENSG00000116830
0
0
ENSG00000116830
missense_variant
ENSG00000116830
14,756
ENSG00000116830
211
211
ENSG00000116830
missense_variant
NA
NA
1
117,113,466
A
G
false
missense_variant
92
rs1289658
0.000236
0.41513
70.833
missense_variant
missense_variant
ENSG00000134253
0
ENSG00000134253
0
0
ENSG00000134253
missense_variant
ENSG00000134253
8,282
ENSG00000134253
2,145
2,145
ENSG00000134253
missense_variant
NA
NA
1
117,487,590
G
A
false
distal
167
rs3767799
0.00676
0.30665
197.39
intron_variant
CA_flank
ENSG00000198162
5,556
ENSG00000279513
5,924
5,556
ENSG00000198162
CA_flank
ENSG00000198162
9,189
ENSG00000279513
5,924
5,924
ENSG00000279513
distal
NA
NA
1
117,596,431
C
G
true
distal
52
rs320370
0.996815
HbA1c
0.35732
82.951
downstream_gene_variant
dELS
ENSG00000183508
9,616
ENSG00000236866
400
400
ENSG00000236866
dELS
ENSG00000183508
9,616
ENSG00000236866
9,253
9,253
ENSG00000236866
distal
NA
NA
1
117,622,914
G
A
false
missense_variant
90
rs34495780
0.000034
0.000131
4.2998
missense_variant
missense_variant
ENSG00000183508
0
ENSG00000236866
17,143
0
ENSG00000183508
missense_variant
ENSG00000183508
16,865
ENSG00000236866
17,143
16,865
ENSG00000183508
missense_variant
NA
NA
1
117,622,981
G
A
true
missense_variant
90
rs148397151
0.999935
MCH,MCV
0.000547
5.3337
missense_variant
missense_variant
ENSG00000183508
0
ENSG00000236866
17,210
0
ENSG00000183508
missense_variant
ENSG00000183508
16,932
ENSG00000236866
17,210
16,932
ENSG00000183508
missense_variant
NA
NA
1
117,708,466
G
T
true
distal
53
rs72695540
0.984985
MCH
0.031956
54.497
intergenic_variant
dELS
ENSG00000183508
80,076
ENSG00000270719
8,223
8,223
ENSG00000270719
dELS
ENSG00000183508
102,417
ENSG00000270719
8,223
8,223
ENSG00000270719
distal
NA
NA
1
117,708,521
C
T
true
distal
54
rs10923397
0.99995
HbA1c,MCHC,RBC
0.16226
123.06
intergenic_variant
dELS
ENSG00000183508
80,131
ENSG00000270719
8,278
8,278
ENSG00000270719
dELS
ENSG00000183508
102,472
ENSG00000270719
8,278
8,278
ENSG00000270719
distal
NA
NA
1
117,939,526
C
T
false
missense_variant
89
rs34973445
0.000038
0.08988
97.843
missense_variant
missense_variant
ENSG00000065183
0
ENSG00000065183
967
0
ENSG00000065183
missense_variant
ENSG00000065183
9,786
ENSG00000065183
9,750
9,750
ENSG00000065183
missense_variant
NA
NA
1
117,969,966
G
C
false
tss_proximal
185
rs11578577
0.000036
0.005672
21.202
intron_variant
dELS_flank
ENSG00000155761
89
ENSG00000155761
89
89
ENSG00000155761
tss_proximal
ENSG00000155761
38,103
ENSG00000155761
151
151
ENSG00000155761
tss_proximal
tss_prox:b2
tss_prox:b0
1
117,970,183
G
A
false
tss_proximal
185
rs190902205
0.000045
0.009696
27.122
intron_variant
dELS_flank
ENSG00000155761
66
ENSG00000155761
64
64
ENSG00000155761
tss_proximal
ENSG00000155761
37,886
ENSG00000155761
64
64
ENSG00000155761
tss_proximal
tss_prox:b2
tss_prox:b0
1
118,884,844
A
C
true
missense_variant
91
rs61730011
0.99977
Height
0.046058
105.83
missense_variant
missense_variant
ENSG00000092607
0
ENSG00000226172
115,499
0
ENSG00000092607
missense_variant
ENSG00000092607
29,280
ENSG00000226172
116,547
29,280
ENSG00000092607
missense_variant
NA
NA
1
118,885,064
G
C
false
missense_variant
91
rs17022678
0.000217
0.000101
124.78
missense_variant
missense_variant
ENSG00000092607
0
ENSG00000226172
115,279
0
ENSG00000092607
missense_variant
ENSG00000092607
29,060
ENSG00000226172
116,327
29,060
ENSG00000092607
missense_variant
NA
NA
1
118,885,216
C
T
false
missense_variant
91
rs144291418
0.000086
0.000259
2.5545
missense_variant
missense_variant
ENSG00000092607
0
ENSG00000226172
115,127
0
ENSG00000092607
missense_variant
ENSG00000092607
28,908
ENSG00000226172
116,175
28,908
ENSG00000092607
missense_variant
NA
NA
1
118,958,381
G
C
false
distal
61
rs74668342
0.000045
0.018228
51.597
intron_variant
dELS
ENSG00000092607
26,548
ENSG00000226172
41,962
26,548
ENSG00000092607
dELS
ENSG00000092607
29,961
ENSG00000226172
43,010
29,961
ENSG00000092607
distal
NA
NA
1
119,035,302
G
A
false
distal
170
rs17185989
0.000048
0.12985
170.51
intron_variant
CA-CTCF_flank
ENSG00000116874
1,088
ENSG00000116874
1,088
1,088
ENSG00000116874
CA-CTCF_flank
ENSG00000092607
45,745
ENSG00000224238
12,102
12,102
ENSG00000224238
distal
NA
NA
1
119,035,324
C
G
false
distal
170
rs12132585
0.001118
0.13934
122.72
intron_variant
CA-CTCF_flank
ENSG00000116874
1,110
ENSG00000116874
1,110
1,110
ENSG00000116874
CA-CTCF_flank
ENSG00000092607
45,767
ENSG00000224238
12,080
12,080
ENSG00000224238
distal
NA
NA
1
119,134,627
C
T
false
distal
62
rs1341583
0.000126
0.39309
220
intron_variant
dELS
ENSG00000116874
5,927
ENSG00000116874
5,020
5,020
ENSG00000116874
dELS
ENSG00000116874
6,020
ENSG00000231365
5,763
5,763
ENSG00000231365
distal
NA
NA
1
119,140,608
A
C
false
missense_variant
104
rs139548132
0.000328
0.003589
9.2316
missense_variant
missense_variant
ENSG00000116874
0
ENSG00000231365
0
0
ENSG00000116874
missense_variant
ENSG00000116874
39
ENSG00000116874
29
29
ENSG00000116874
missense_variant
NA
NA
1
119,220,531
C
G
false
tss_proximal
180
rs76217211
0.000035
0.027853
69.388
intron_variant
CA_flank
ENSG00000116874
79,877
ENSG00000227056
434
434
ENSG00000227056
tss_proximal
ENSG00000116874
79,877
ENSG00000227056
434
434
ENSG00000227056
tss_proximal
tss_prox:b2
tss_prox:b2
1
119,523,295
G
A
false
distal
159
rs4579805
0.000307
0.32388
237.66
intergenic_variant
intergenic_variant
ENSG00000203857
8,240
ENSG00000226443
10,453
8,240
ENSG00000203857
intergenic_variant
ENSG00000203857
15,976
ENSG00000226443
11,450
11,450
ENSG00000226443
distal
NA
NA
1
119,523,388
C
T
false
distal
159
rs4478857
0.000272
0.32392
237.69
intergenic_variant
intergenic_variant
ENSG00000203857
8,333
ENSG00000226443
10,360
8,333
ENSG00000203857
intergenic_variant
ENSG00000203857
16,069
ENSG00000226443
11,357
11,357
ENSG00000226443
distal
NA
NA
1
119,648,421
A
T
true
5_prime_UTR_variant
126
rs12129705
1
Height
0.12796
79.417
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000092621
0
ENSG00000198857
39,170
0
ENSG00000092621
5_prime_UTR_variant
ENSG00000092621
9
ENSG00000198857
47,080
9
ENSG00000092621
5_prime_UTR_variant
NA
NA