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
17
4,618,239
A
G
false
distal
840
rs142225653
0.000065
0.011359
13.405
downstream_gene_variant
pELS
ENSG00000188176
9,919
ENSG00000261863
588
588
ENSG00000261863
pELS
ENSG00000161905
21,642
ENSG00000222429
1,612
1,612
ENSG00000222429
distal
NA
NA
17
4,639,054
T
C
true
missense_variant
814
rs113604586
0.99998
Eosino
0.002943
13.365
missense_variant
missense_variant
ENSG00000161905
0
ENSG00000161905
0
0
ENSG00000161905
missense_variant
ENSG00000161905
827
ENSG00000161905
109
109
ENSG00000161905
missense_variant
NA
NA
17
4,642,078
C
T
false
tss_proximal
899
rs34104097
0.000068
0.008905
56.995
intron_variant
PLS
ENSG00000161905
142
ENSG00000161905
399
142
ENSG00000161905
tss_proximal
ENSG00000161905
142
ENSG00000161905
399
142
ENSG00000161905
tss_proximal
tss_prox:b1
tss_prox:b1
17
4,675,274
G
A
false
missense_variant
822
rs562119958
0.000188
0.000439
5.1518
missense_variant
missense_variant
ENSG00000141456
0
ENSG00000141456
0
0
ENSG00000141456
missense_variant
ENSG00000141456
16,550
ENSG00000235085
104
104
ENSG00000235085
missense_variant
NA
NA
17
4,675,660
G
A
false
non_coding_transcript_exon_variant
864
rs150835562
0.000125
0.005212
8.0831
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000141456
136
ENSG00000141456
0
0
ENSG00000141456
non_coding_transcript_exon_variant
ENSG00000141456
16,164
ENSG00000141456
141
141
ENSG00000141456
non_coding_transcript_exon_variant
NA
NA
17
4,720,565
C
T
false
missense_variant
812
rs34923832
0.000054
0.004283
12.263
missense_variant
missense_variant
ENSG00000141480
0
ENSG00000141480
157
0
ENSG00000141480
missense_variant
ENSG00000141480
4,975
ENSG00000141480
3,128
3,128
ENSG00000141480
missense_variant
NA
NA
17
4,739,441
G
A
false
5_prime_UTR_variant
887
rs140340376
0.000104
0.007811
14.536
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000161921
0
ENSG00000141497
588
0
ENSG00000161921
5_prime_UTR_variant
ENSG00000161921
295
ENSG00000141497
588
295
ENSG00000161921
5_prime_UTR_variant
NA
NA
17
4,786,277
T
C
false
missense_variant
824
rs4790706
0.000398
0.4682
54.642
missense_variant
missense_variant
ENSG00000182853
0
ENSG00000280254
779
0
ENSG00000182853
missense_variant
ENSG00000182853
86
ENSG00000280254
779
86
ENSG00000182853
missense_variant
NA
NA
17
4,789,345
G
T
true
tss_proximal
866
rs79202680
0.996115
LDLC,TC,TG
0.004872
47.941
intron_variant
pELS
ENSG00000182327
54
ENSG00000280254
182
54
ENSG00000182327
tss_proximal
ENSG00000182327
380
ENSG00000280254
2,287
380
ENSG00000182327
tss_proximal
tss_prox:b1
tss_prox:b0
17
4,797,698
C
G
false
missense_variant
831
rs2304974
0.000172
0.011303
27.191
missense_variant
missense_variant
ENSG00000142507
0
ENSG00000142507
0
0
ENSG00000142507
missense_variant
ENSG00000142507
1,533
ENSG00000142507
13
13
ENSG00000142507
missense_variant
NA
NA
17
4,807,438
T
C
false
tss_proximal
898
rs71368521
0.00139
0.14614
107.1
intron_variant
pELS
ENSG00000129219
123
ENSG00000129219
212
123
ENSG00000129219
tss_proximal
ENSG00000129219
123
ENSG00000129219
245
123
ENSG00000129219
tss_proximal
tss_prox:b1
tss_prox:b1
17
4,835,663
C
T
true
distal
870
rs9895848
0.99228
Lym
0.34574
112.46
intron_variant
dELS
ENSG00000141503
2,022
ENSG00000141503
2,022
2,022
ENSG00000141503
dELS
ENSG00000141503
2,061
ENSG00000141503
2,041
2,041
ENSG00000141503
distal
NA
NA
17
4,894,137
C
T
false
tss_proximal
932
rs112465713
0.000175
0.001636
86.423
intron_variant
dELS
ENSG00000141503
36
ENSG00000141503
36
36
ENSG00000141503
tss_proximal
ENSG00000141503
2,067
ENSG00000141503
406
406
ENSG00000141503
tss_proximal
tss_prox:b2
tss_prox:b0
17
4,896,641
C
G
false
tss_proximal
866
rs142924453
0.000272
0.003473
29.14
intron_variant
dELS
ENSG00000141503
32
ENSG00000141503
32
32
ENSG00000141503
tss_proximal
ENSG00000141503
435
ENSG00000141503
1,782
435
ENSG00000141503
tss_proximal
tss_prox:b1
tss_prox:b0
17
4,898,299
C
G
false
3_prime_UTR_variant
914
rs3514
0.000515
0.14336
97.891
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000108556
0
ENSG00000108556
0
0
ENSG00000108556
3_prime_UTR_variant
ENSG00000205710
1,118
ENSG00000108556
1,929
1,118
ENSG00000205710
3_prime_UTR_variant
NA
NA
17
4,900,721
C
T
false
3_prime_UTR_variant
913
rs55735639
0.001289
0.013946
25.924
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000205710
0
ENSG00000108556
71
0
ENSG00000205710
3_prime_UTR_variant
ENSG00000205710
1,184
ENSG00000108556
491
491
ENSG00000108556
3_prime_UTR_variant
NA
NA
17
4,902,954
C
T
false
tss_proximal
869
rs12602789
0.000065
0.07489
112.02
intron_variant
pELS
ENSG00000205710
19
ENSG00000108556
323
19
ENSG00000205710
tss_proximal
ENSG00000108556
143
ENSG00000108556
323
143
ENSG00000108556
tss_proximal
tss_prox:b1
tss_prox:b0
17
4,932,332
C
T
true
5_prime_UTR_variant
885
rs56337033
0.9997
Plt
0.003412
18.05
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000185245
0
ENSG00000108528
4,984
0
ENSG00000185245
5_prime_UTR_variant
ENSG00000185245
54
ENSG00000108528
6,224
54
ENSG00000185245
5_prime_UTR_variant
NA
NA
17
4,933,378
C
T
false
synonymous_variant
894
rs6066
0.000255
0.041885
67.066
synonymous_variant
synonymous_variant
ENSG00000185245
0
ENSG00000108528
3,938
0
ENSG00000185245
synonymous_variant
ENSG00000108556
1,059
ENSG00000108528
5,178
1,059
ENSG00000108556
synonymous_variant
NA
NA
17
4,933,900
C
A
true
synonymous_variant
894
rs553749201
0.99948
Plt
0.052362
81.765
synonymous_variant
synonymous_variant
ENSG00000185245
0
ENSG00000108528
3,416
0
ENSG00000185245
synonymous_variant
ENSG00000108556
537
ENSG00000108528
4,656
537
ENSG00000108556
synonymous_variant
NA
NA
17
4,933,915
A
G
false
synonymous_variant
894
rs2586529
0.000516
0.05821
75.551
synonymous_variant
synonymous_variant
ENSG00000185245
0
ENSG00000108528
3,401
0
ENSG00000185245
synonymous_variant
ENSG00000108556
522
ENSG00000108528
4,641
522
ENSG00000108556
synonymous_variant
NA
NA
17
4,967,993
T
C
false
3_prime_UTR_variant
913
rs117836374
0.000356
0.013389
30.239
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000108509
3
ENSG00000108509
0
0
ENSG00000108509
3_prime_UTR_variant
ENSG00000091640
175
ENSG00000262429
1
1
ENSG00000262429
3_prime_UTR_variant
NA
NA
17
4,988,881
C
G
false
missense_variant
817
rs74744272
0.008483
0.12496
225.8
missense_variant
missense_variant
ENSG00000196388
0
ENSG00000262227
300
0
ENSG00000196388
missense_variant
ENSG00000108509
1,205
ENSG00000262227
1,191
1,191
ENSG00000262227
missense_variant
NA
NA
17
4,997,769
G
A
false
tss_proximal
897
rs116890733
0.000167
0.04131
126.03
upstream_gene_variant
PLS_flank
ENSG00000196388
158
ENSG00000262227
9,188
158
ENSG00000196388
tss_proximal
ENSG00000196388
158
ENSG00000129250
9,695
158
ENSG00000196388
tss_proximal
tss_prox:b1
tss_prox:b1
17
4,998,558
C
G
false
tss_proximal
897
rs77239225
0.000263
0.044294
87.557
intron_variant
pELS
ENSG00000129250
401
ENSG00000129250
8,906
401
ENSG00000129250
tss_proximal
ENSG00000129250
603
ENSG00000129250
8,906
603
ENSG00000129250
tss_proximal
tss_prox:b1
tss_prox:b1
17
4,998,687
C
T
true
tss_proximal
897
rs11658587
0.95507
HbA1c
0.037047
27.009
intron_variant
pELS
ENSG00000129250
325
ENSG00000129250
8,777
325
ENSG00000129250
tss_proximal
ENSG00000129250
732
ENSG00000129250
8,777
732
ENSG00000129250
tss_proximal
tss_prox:b1
tss_prox:b1
17
5,033,603
C
T
false
missense_variant
837
rs2304445
0.001499
0.17063
170.63
missense_variant
missense_variant
ENSG00000132517
0
ENSG00000132517
0
0
ENSG00000132517
missense_variant
ENSG00000132517
1,822
ENSG00000132517
1,818
1,818
ENSG00000132517
missense_variant
NA
NA
17
5,109,320
C
T
false
3_prime_UTR_variant
913
rs149824709
0.000079
0.012974
54.039
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000167840
73
ENSG00000167840
0
0
ENSG00000167840
3_prime_UTR_variant
ENSG00000167840
2,520
ENSG00000167840
4
4
ENSG00000167840
3_prime_UTR_variant
NA
NA
17
5,112,773
G
A
false
tss_proximal
900
rs148893837
0.000058
0.043033
45.512
intron_variant
pELS
ENSG00000167840
881
ENSG00000167840
421
421
ENSG00000167840
tss_proximal
ENSG00000167840
881
ENSG00000234327
585
585
ENSG00000234327
tss_proximal
tss_prox:b1
tss_prox:b1
17
5,200,635
G
A
false
distal
860
rs12449778
0.000086
0.185
206.29
intron_variant
dELS_flank
ENSG00000161929
8,284
ENSG00000261879
8,471
8,284
ENSG00000161929
dELS_flank
ENSG00000180626
8,766
ENSG00000261879
8,530
8,530
ENSG00000261879
distal
NA
NA
17
5,200,980
G
A
false
distal
860
rs2585270
0.000085
0.1852
206.33
intron_variant
dELS_flank
ENSG00000161929
7,939
ENSG00000261879
8,769
7,939
ENSG00000161929
dELS_flank
ENSG00000180626
9,111
ENSG00000261879
8,875
8,875
ENSG00000261879
distal
NA
NA
17
5,486,982
G
A
false
5_prime_UTR_variant
890
rs144102744
0.001624
0.020359
35.775
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000167842
0
ENSG00000167842
18
0
ENSG00000167842
5_prime_UTR_variant
ENSG00000167842
54
ENSG00000072849
170
54
ENSG00000167842
5_prime_UTR_variant
NA
NA
17
5,500,950
C
T
false
missense_variant
817
rs55910638
0.00011
0.12201
129.44
missense_variant
missense_variant
ENSG00000286190
0
ENSG00000091592
0
0
ENSG00000286190
missense_variant
ENSG00000286190
55
ENSG00000091592
2,012
55
ENSG00000286190
missense_variant
NA
NA
17
5,565,330
T
C
false
distal
861
rs12602431
0.000047
0.14439
111.95
intron_variant
dELS_flank
ENSG00000091592
5,286
ENSG00000091592
623
623
ENSG00000091592
dELS_flank
ENSG00000091592
18,626
ENSG00000091592
6,148
6,148
ENSG00000091592
distal
NA
NA
17
5,788,680
A
C
false
distal
880
rs182171378
0.000085
0.001556
3.9223
intron_variant
dELS
ENSG00000285471
15,652
ENSG00000284837
15,652
15,652
ENSG00000285471
dELS
ENSG00000285471
15,753
ENSG00000284837
16,445
15,753
ENSG00000285471
distal
NA
NA
17
6,081,989
G
T
false
tss_proximal
868
rs75740064
0.000086
0.025745
7.5105
intron_variant
dELS_flank
ENSG00000179314
18
ENSG00000179314
903
18
ENSG00000179314
tss_proximal
ENSG00000179314
106
ENSG00000179314
1,244
106
ENSG00000179314
tss_proximal
tss_prox:b1
tss_prox:b0
17
6,433,951
G
A
false
missense_variant
829
rs144822294
0.000279
0.001762
15.827
missense_variant
missense_variant
ENSG00000129221
0
ENSG00000129221
0
0
ENSG00000129221
missense_variant
ENSG00000129221
1,127
ENSG00000129221
1,180
1,127
ENSG00000129221
missense_variant
NA
NA
17
6,442,242
T
C
false
distal
905
rs80188917
0.000087
0.007079
40.22
intergenic_variant
intergenic_variant
ENSG00000129195
2,198
ENSG00000129195
2,199
2,198
ENSG00000129195
intergenic_variant
ENSG00000129195
2,198
ENSG00000129195
2,199
2,198
ENSG00000129195
distal
NA
NA
17
6,450,713
C
G
false
3_prime_UTR_variant
918
rs1051443
0.000169
0.16045
26.605
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000129195
0
ENSG00000129195
271
0
ENSG00000129195
3_prime_UTR_variant
ENSG00000129195
3,217
ENSG00000129195
3,365
3,217
ENSG00000129195
3_prime_UTR_variant
NA
NA
17
6,454,514
C
A
false
3_prime_UTR_variant
912
rs111943449
0.00042
0.014752
19.275
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000091622
0
ENSG00000091622
876
0
ENSG00000091622
3_prime_UTR_variant
ENSG00000129195
7,018
ENSG00000129195
7,166
7,018
ENSG00000129195
3_prime_UTR_variant
NA
NA
17
6,454,762
A
G
false
3_prime_UTR_variant
912
rs570375031
0.000367
0.015915
21.576
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000091622
0
ENSG00000091622
628
0
ENSG00000091622
3_prime_UTR_variant
ENSG00000129195
7,266
ENSG00000129195
7,414
7,266
ENSG00000129195
3_prime_UTR_variant
NA
NA
17
6,608,421
T
C
false
missense_variant
810
rs61735441
0.000138
0.011197
7.8456
missense_variant
missense_variant
ENSG00000198920
0
ENSG00000198920
0
0
ENSG00000198920
missense_variant
ENSG00000198920
13,421
ENSG00000198920
1,492
1,492
ENSG00000198920
missense_variant
NA
NA
17
6,644,101
C
T
false
3_prime_UTR_variant
916
rs141923325
0.000592
0.037396
12.348
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000129235
0
ENSG00000129235
977
0
ENSG00000129235
3_prime_UTR_variant
ENSG00000129235
3,040
ENSG00000129235
2,442
2,442
ENSG00000129235
3_prime_UTR_variant
NA
NA
17
6,651,296
C
G
false
tss_proximal
867
rs17842439
0.008458
0.02636
50.442
intron_variant
pELS
ENSG00000108590
52
ENSG00000108590
204
52
ENSG00000108590
tss_proximal
ENSG00000108590
130
ENSG00000108590
278
130
ENSG00000108590
tss_proximal
tss_prox:b1
tss_prox:b0
17
6,653,007
G
A
false
3_prime_UTR_variant
910
rs4796532
0.00154
0.16993
98.897
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000256806
0
ENSG00000256806
412
0
ENSG00000256806
3_prime_UTR_variant
ENSG00000256806
1,244
ENSG00000256806
842
842
ENSG00000256806
3_prime_UTR_variant
NA
NA
17
6,688,433
C
A
false
non_coding_transcript_exon_variant
863
rs218693
0.001122
0.49492
26.129
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000141485
766
ENSG00000141485
0
0
ENSG00000141485
non_coding_transcript_exon_variant
ENSG00000141485
2,450
ENSG00000141485
1,686
1,686
ENSG00000141485
non_coding_transcript_exon_variant
NA
NA
17
6,690,603
T
C
false
tss_proximal
904
rs218696
0.001838
0.46789
26.773
intron_variant
intron_variant
ENSG00000141485
175
ENSG00000141485
175
175
ENSG00000141485
tss_proximal
ENSG00000141485
280
ENSG00000141485
482
280
ENSG00000141485
tss_proximal
tss_prox:b1
tss_prox:b1
17
6,780,684
C
G
false
synonymous_variant
894
rs17731806
0.000186
0.058321
19.861
synonymous_variant
synonymous_variant
ENSG00000177294
0
ENSG00000279296
4,567
0
ENSG00000177294
synonymous_variant
ENSG00000177294
4,468
ENSG00000279296
4,567
4,468
ENSG00000177294
synonymous_variant
NA
NA
17
6,947,049
C
T
false
distal
924
rs9630721
0.000542
0.39969
43.441
intron_variant
intron_variant
ENSG00000108839
48,999
ENSG00000262943
6,611
6,611
ENSG00000262943
intron_variant
ENSG00000108839
48,999
ENSG00000262503
18,857
18,857
ENSG00000262503
distal
NA
NA
17
6,947,142
G
A
false
distal
924
rs9630722
0.00064
0.40149
43.254
intron_variant
intron_variant
ENSG00000108839
48,906
ENSG00000262943
6,518
6,518
ENSG00000262943
intron_variant
ENSG00000108839
48,906
ENSG00000262503
18,950
18,950
ENSG00000262503
distal
NA
NA
17
6,966,132
T
C
false
distal
921
rs139102984
0.002277
0.088083
54.546
intron_variant
CA_flank
ENSG00000108839
29,916
ENSG00000263316
7,170
7,170
ENSG00000263316
CA_flank
ENSG00000108839
29,916
ENSG00000263316
12,827
12,827
ENSG00000263316
distal
NA
NA
17
7,026,799
G
T
false
synonymous_variant
896
rs61739754
0.000075
0.008424
6.0251
synonymous_variant
synonymous_variant
ENSG00000161940
0
ENSG00000161940
0
0
ENSG00000161940
synonymous_variant
ENSG00000161940
297
ENSG00000161940
7
7
ENSG00000161940
synonymous_variant
NA
NA
17
7,042,968
T
C
false
missense_variant
832
rs13342692
0.000087
0.009147
38.943
missense_variant
missense_variant
ENSG00000174326
0
ENSG00000174326
0
0
ENSG00000174326
missense_variant
ENSG00000174326
1,123
ENSG00000174326
637
637
ENSG00000174326
missense_variant
NA
NA
17
7,044,074
G
C
false
5_prime_UTR_variant
886
rs77086571
0.000144
0.006371
43.361
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000174326
0
ENSG00000174326
467
0
ENSG00000174326
5_prime_UTR_variant
ENSG00000174326
17
ENSG00000174326
467
17
ENSG00000174326
5_prime_UTR_variant
NA
NA
17
7,051,740
G
C
false
distal
859
rs36100967
0.000627
0.20425
48.15
intergenic_variant
dELS_flank
ENSG00000174326
7,647
ENSG00000262067
7,193
7,193
ENSG00000262067
dELS_flank
ENSG00000174326
7,647
ENSG00000262067
7,193
7,193
ENSG00000262067
distal
NA
NA
17
7,080,758
C
A
false
tss_proximal
900
rs314229
0.0001
0.042245
56.604
upstream_gene_variant
pELS
ENSG00000132514
450
ENSG00000132514
513
450
ENSG00000132514
tss_proximal
ENSG00000132514
450
ENSG00000132514
513
450
ENSG00000132514
tss_proximal
tss_prox:b1
tss_prox:b1
17
7,112,761
C
G
false
distal
839
rs10438727
0.00033
0.21688
40.146
intron_variant
pELS
ENSG00000161944
1,355
ENSG00000161944
1,412
1,355
ENSG00000161944
pELS
ENSG00000161944
1,478
ENSG00000161944
2,063
1,478
ENSG00000161944
distal
NA
NA
17
7,115,418
C
T
false
5_prime_UTR_variant
886
rs188752097
0.000067
0.006514
7.2166
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000161944
0
ENSG00000161944
402
0
ENSG00000161944
5_prime_UTR_variant
ENSG00000161944
281
ENSG00000161944
402
281
ENSG00000161944
5_prime_UTR_variant
NA
NA
17
7,116,978
T
C
true
distal
905
rs535064984
1
ALP
0.007242
11.465
intergenic_variant
intergenic_variant
ENSG00000161944
1,277
ENSG00000161944
1,962
1,277
ENSG00000161944
intergenic_variant
ENSG00000161944
1,277
ENSG00000161944
1,962
1,277
ENSG00000161944
distal
NA
NA
17
7,118,345
A
G
true
distal
847
rs8079999
0.999505
ALP
0.34286
51.179
intergenic_variant
dELS_flank
ENSG00000161944
2,644
ENSG00000161944
3,329
2,644
ENSG00000161944
dELS_flank
ENSG00000161944
2,644
ENSG00000161944
3,329
2,644
ENSG00000161944
distal
NA
NA
17
7,138,927
T
C
false
distal
841
rs1237044
0.000251
0.42072
34.12
intron_variant
pELS
ENSG00000161944
23,226
ENSG00000289977
1,128
1,128
ENSG00000289977
pELS
ENSG00000161944
23,226
ENSG00000289977
1,578
1,578
ENSG00000289977
distal
NA
NA
17
7,146,469
G
A
false
distal
862
rs220992
0.000335
0.46965
33.577
intergenic_variant
dELS_flank
ENSG00000141505
26,961
ENSG00000289977
1,701
1,701
ENSG00000289977
dELS_flank
ENSG00000141505
30,576
ENSG00000213876
5,538
5,538
ENSG00000213876
distal
NA
NA
17
7,166,093
G
A
true
distal
848
rs186021206
1
ALP,Alb,ApoB,CRP,LDLC,TC
0.006571
8.6936
intergenic_variant
dELS_flank
ENSG00000141505
7,337
ENSG00000141505
10,520
7,337
ENSG00000141505
dELS_flank
ENSG00000141505
10,952
ENSG00000141505
13,282
10,952
ENSG00000141505
distal
NA
NA
17
7,176,997
C
T
true
synonymous_variant
895
rs55714927
1
ALP,LDLC
0.19196
43.82
synonymous_variant
synonymous_variant
ENSG00000141505
0
ENSG00000141505
0
0
ENSG00000141505
synonymous_variant
ENSG00000141505
48
ENSG00000141505
2,378
48
ENSG00000141505
synonymous_variant
NA
NA
17
7,203,059
G
A
true
splicing
909
rs200489612
1
ALP,ApoB,LDLC
0.005329
7.3772
splice_polypyrimidine_tract_variant
splice_polypyrimidine_tract_variant
ENSG00000132535
11
ENSG00000132535
11
11
ENSG00000132535
splice_polypyrimidine_tract_variant
ENSG00000132535
1,442
ENSG00000132535
4,235
1,442
ENSG00000132535
splicing
NA
splicing:b1
17
7,207,094
G
A
false
5_prime_UTR_variant
890
rs222856
0.001341
0.020466
12.694
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000132535
0
ENSG00000132535
0
0
ENSG00000132535
5_prime_UTR_variant
ENSG00000132535
200
ENSG00000132535
200
200
ENSG00000132535
5_prime_UTR_variant
NA
NA
17
7,237,821
C
G
true
tss_proximal
898
rs77234976
0.993655
Lym
0.1452
33.549
intron_variant
pELS
ENSG00000040633
160
ENSG00000040633
26
26
ENSG00000040633
tss_proximal
ENSG00000040633
349
ENSG00000040633
26
26
ENSG00000040633
tss_proximal
tss_prox:b1
tss_prox:b1
17
7,282,460
C
A
true
tss_proximal
867
rs117643180
0.99966
ALT
0.026033
25.532
intron_variant
pELS
ENSG00000181856
30
ENSG00000263342
486
30
ENSG00000181856
tss_proximal
ENSG00000181856
329
ENSG00000181856
651
329
ENSG00000181856
tss_proximal
tss_prox:b1
tss_prox:b0
17
7,317,419
C
G
false
tss_proximal
932
rs567337724
0.000667
0.002212
4.4851
intron_variant
pELS
ENSG00000215041
41
ENSG00000215041
41
41
ENSG00000215041
tss_proximal
ENSG00000132522
2,058
ENSG00000215041
488
488
ENSG00000215041
tss_proximal
tss_prox:b2
tss_prox:b0
17
7,321,114
C
T
false
missense_variant
827
rs79385421
0.000897
0.027033
21.397
missense_variant
missense_variant
ENSG00000215041
0
ENSG00000215041
0
0
ENSG00000215041
missense_variant
ENSG00000132522
5,753
ENSG00000215041
304
304
ENSG00000215041
missense_variant
NA
NA
17
7,322,782
G
A
false
missense_variant
836
rs200046311
0.001059
0.003666
4.1743
missense_variant
missense_variant
ENSG00000215041
0
ENSG00000215041
0
0
ENSG00000215041
missense_variant
ENSG00000215041
6,483
ENSG00000215041
181
181
ENSG00000215041
missense_variant
NA
NA
17
7,327,526
G
T
false
missense_variant
816
rs11655578
0.000295
0.21034
27.688
missense_variant
missense_variant
ENSG00000215041
0
ENSG00000215041
25
0
ENSG00000215041
missense_variant
ENSG00000215041
1,739
ENSG00000215041
25
25
ENSG00000215041
missense_variant
NA
NA
17
7,329,843
C
G
false
tss_proximal
903
rs3809817
0.002013
0.35897
38.992
upstream_gene_variant
pELS
ENSG00000215041
449
ENSG00000224647
608
449
ENSG00000215041
tss_proximal
ENSG00000215041
449
ENSG00000224647
608
449
ENSG00000215041
tss_proximal
tss_prox:b1
tss_prox:b1
17
7,336,592
A
G
false
5_prime_UTR_variant
892
rs3809827
0.000587
0.24781
25.796
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000072818
0
ENSG00000072818
4
0
ENSG00000072818
5_prime_UTR_variant
ENSG00000072818
1
ENSG00000072818
4
1
ENSG00000072818
5_prime_UTR_variant
NA
NA
17
7,420,585
G
A
false
tss_proximal
869
rs73977668
0.001606
0.074372
70.295
intron_variant
PLS_flank
ENSG00000181323
41
ENSG00000262880
41
41
ENSG00000181323
tss_proximal
ENSG00000181323
260
ENSG00000262880
481
260
ENSG00000181323
tss_proximal
tss_prox:b1
tss_prox:b0
17
7,426,313
T
G
false
missense_variant
825
rs13290
0.000254
0.34674
69.654
missense_variant
missense_variant
ENSG00000184560
0
ENSG00000286007
2,547
0
ENSG00000184560
missense_variant
ENSG00000184560
671
ENSG00000286007
2,547
671
ENSG00000184560
missense_variant
NA
NA
17
7,443,983
G
A
false
3_prime_UTR_variant
913
rs111650828
0.000174
0.01251
21.777
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000161958
0
ENSG00000262880
0
0
ENSG00000161958
3_prime_UTR_variant
ENSG00000170175
1,077
ENSG00000263301
655
655
ENSG00000263301
3_prime_UTR_variant
NA
NA
17
7,454,545
C
A
false
splicing
922
rs7210231
0.006189
0.21189
193.2
intron_variant
pELS_flank
ENSG00000170175
24
ENSG00000170175
24
24
ENSG00000170175
exon_proximal
ENSG00000170175
1,048
ENSG00000170175
9,001
1,048
ENSG00000170175
splicing
NA
splicing:b1
17
7,463,300
T
C
true
missense_variant
815
rs34914463
0.960435
Hb
0.13232
146.7
missense_variant
missense_variant
ENSG00000174282
0
ENSG00000170175
7,610
0
ENSG00000174282
missense_variant
ENSG00000170175
7,705
ENSG00000170175
17,756
7,705
ENSG00000170175
missense_variant
NA
NA
17
7,463,332
C
G
false
missense_variant
815
rs871990
0.000775
0.14451
140.66
missense_variant
missense_variant
ENSG00000174282
0
ENSG00000170175
7,642
0
ENSG00000174282
missense_variant
ENSG00000170175
7,737
ENSG00000170175
17,788
7,737
ENSG00000170175
missense_variant
NA
NA
17
7,467,286
G
A
false
5_prime_UTR_variant
891
rs3853894
0.000741
0.14381
142.38
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000174282
0
ENSG00000170175
11,596
0
ENSG00000174282
5_prime_UTR_variant
ENSG00000170175
11,691
ENSG00000181222
17,079
11,691
ENSG00000170175
5_prime_UTR_variant
NA
NA
17
7,477,851
C
T
true
distal
844
rs75821240
0.97538
HbA1c
0.011933
15.972
intron_variant
pELS_flank
ENSG00000174282
1,604
ENSG00000181222
6,514
1,604
ENSG00000174282
pELS_flank
ENSG00000174282
1,779
ENSG00000181222
6,514
1,779
ENSG00000174282
distal
NA
NA
17
7,482,771
G
A
false
missense_variant
825
rs7209977
0.002054
0.35925
132.68
missense_variant
missense_variant
ENSG00000259224
0
ENSG00000181222
1,594
0
ENSG00000259224
missense_variant
ENSG00000259224
1,324
ENSG00000181222
1,594
1,324
ENSG00000259224
missense_variant
NA
NA
17
7,498,927
G
A
true
non_coding_transcript_exon_variant
864
rs144713037
0.999995
SHBG
0.005161
6.7096
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000181222
111
ENSG00000181222
0
0
ENSG00000181222
non_coding_transcript_exon_variant
ENSG00000181222
14,560
ENSG00000181222
100
100
ENSG00000181222
non_coding_transcript_exon_variant
NA
NA
17
7,550,188
C
A
false
missense_variant
811
rs62059804
0.009027
0.27036
133.85
missense_variant
missense_variant
ENSG00000239697
0
ENSG00000239697
0
0
ENSG00000239697
missense_variant
ENSG00000248871
1,088
ENSG00000239697
376
376
ENSG00000239697
missense_variant
NA
NA
17
7,557,640
G
T
true
3_prime_UTR_variant
910
rs9907657
1
TP
0.16722
113.61
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000239697
0
ENSG00000239697
0
0
ENSG00000239697
3_prime_UTR_variant
ENSG00000161955
651
ENSG00000276384
604
604
ENSG00000276384
3_prime_UTR_variant
NA
NA
17
7,558,697
C
T
true
5_prime_UTR_variant
886
rs187256434
0.99974
AG,NAP,TP
0.005921
9.0992
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000161955
0
ENSG00000276384
451
0
ENSG00000161955
5_prime_UTR_variant
ENSG00000161955
52
ENSG00000276384
451
52
ENSG00000161955
5_prime_UTR_variant
NA
NA
17
7,558,933
G
A
true
5_prime_UTR_variant
887
rs181623923
1
AG,NAP,TP
0.007766
21.035
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000161955
0
ENSG00000276384
687
0
ENSG00000161955
5_prime_UTR_variant
ENSG00000161955
145
ENSG00000276384
687
145
ENSG00000161955
5_prime_UTR_variant
NA
NA
17
7,559,652
A
G
true
missense_variant
816
rs3803800
1
AG,NAP,TP
0.21132
111.79
missense_variant
missense_variant
ENSG00000161955
0
ENSG00000276384
1,406
0
ENSG00000161955
missense_variant
ENSG00000161955
864
ENSG00000276384
1,406
864
ENSG00000161955
missense_variant
NA
NA
17
7,559,785
G
A
true
tss_proximal
868
rs143094271
0.996005
TP
0.021681
49.515
intron_variant
pELS_flank
ENSG00000248871
60
ENSG00000276384
1,539
60
ENSG00000248871
tss_proximal
ENSG00000161955
997
ENSG00000276384
1,539
997
ENSG00000161955
tss_proximal
tss_prox:b1
tss_prox:b0
17
7,563,556
C
T
false
synonymous_variant
896
rs147458538
0.000108
0.008447
7.2464
synonymous_variant
synonymous_variant
ENSG00000161956
0
ENSG00000277957
0
0
ENSG00000161956
synonymous_variant
ENSG00000161956
1,286
ENSG00000277957
268
268
ENSG00000277957
synonymous_variant
NA
NA
17
7,588,013
C
T
true
3_prime_UTR_variant
911
rs545206972
1
SHBG
0.006878
25.364
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000129255
0
ENSG00000129255
0
0
ENSG00000129255
3_prime_UTR_variant
ENSG00000129194
2,058
ENSG00000129255
1,543
1,543
ENSG00000129255
3_prime_UTR_variant
NA
NA
17
7,591,966
G
A
false
tss_proximal
932
rs187014451
0.000109
0.001222
5.9821
intron_variant
pELS
ENSG00000129245
40
ENSG00000129245
40
40
ENSG00000129245
tss_proximal
ENSG00000129194
1,871
ENSG00000129245
390
390
ENSG00000129245
tss_proximal
tss_prox:b2
tss_prox:b0
17
7,629,797
C
T
true
tss_proximal
899
rs80279359
1
SHBG,Testosterone_M
0.00845
17.977
intron_variant
PLS_flank
ENSG00000129214
296
ENSG00000129214
354
296
ENSG00000129214
tss_proximal
ENSG00000129214
296
ENSG00000129214
354
296
ENSG00000129214
tss_proximal
tss_prox:b1
tss_prox:b1
17
7,630,105
G
A
true
5_prime_UTR_variant
888
rs1799941
1
SHBG,Testosterone_M
0.26062
127.51
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000129214
0
ENSG00000129214
46
0
ENSG00000129214
5_prime_UTR_variant
ENSG00000129214
10
ENSG00000129214
46
10
ENSG00000129214
5_prime_UTR_variant
NA
NA
17
7,630,143
T
C
true
5_prime_UTR_variant
889
rs184782320
1
SHBG,Testosterone_M
0.004788
6.8314
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000129214
0
ENSG00000129214
8
0
ENSG00000129214
5_prime_UTR_variant
ENSG00000129214
7
ENSG00000129214
8
7
ENSG00000129214
5_prime_UTR_variant
NA
NA
17
7,630,424
C
T
true
synonymous_variant
896
rs9282846
0.990965
SHBG
0.008068
14.315
synonymous_variant
synonymous_variant
ENSG00000129214
0
ENSG00000129214
0
0
ENSG00000129214
synonymous_variant
ENSG00000129214
169
ENSG00000129214
271
169
ENSG00000129214
synonymous_variant
NA
NA
17
7,630,583
C
T
false
tss_proximal
869
rs9913778
0.005238
0.075912
73.752
intron_variant
PLS_flank
ENSG00000129214
75
ENSG00000129214
75
75
ENSG00000129214
tss_proximal
ENSG00000129214
328
ENSG00000129214
430
328
ENSG00000129214
tss_proximal
tss_prox:b1
tss_prox:b0
17
7,633,209
G
A
true
missense_variant
817
rs6259
1
SHBG
0.12683
149.93
missense_variant
missense_variant
ENSG00000129214
0
ENSG00000129214
0
0
ENSG00000129214
missense_variant
ENSG00000129214
2,954
ENSG00000129214
1,899
1,899
ENSG00000129214
missense_variant
NA
NA
17
7,660,509
C
A
true
distal
919
rs2908806
0.980475
TC
0.16859
42.879
intergenic_variant
CA_flank
ENSG00000141510
1,269
ENSG00000141510
4,906
1,269
ENSG00000141510
CA_flank
ENSG00000129244
6,399
ENSG00000141510
14,609
6,399
ENSG00000129244
distal
NA
NA