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
75,242,427
T
C
false
missense_variant
831
rs52809447
0.000111
0.012749
13.983
missense_variant
missense_variant
ENSG00000125447
0
ENSG00000125447
0
0
ENSG00000125447
missense_variant
ENSG00000125447
3,345
ENSG00000125447
58
58
ENSG00000125447
missense_variant
NA
NA
17
75,264,217
A
G
false
3_prime_UTR_variant
910
rs4788878
0.009972
0.16559
280.82
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000125445
0
ENSG00000125445
709
0
ENSG00000125445
3_prime_UTR_variant
ENSG00000125445
1,543
ENSG00000125445
1,607
1,543
ENSG00000125445
3_prime_UTR_variant
NA
NA
17
75,265,787
G
A
false
missense_variant
812
rs35418346
0.000149
0.004977
23.918
missense_variant
missense_variant
ENSG00000125445
0
ENSG00000125445
0
0
ENSG00000125445
missense_variant
ENSG00000125445
3,113
ENSG00000125457
2,873
2,873
ENSG00000125457
missense_variant
NA
NA
17
75,273,067
G
A
false
3_prime_UTR_variant
911
rs192494814
0.000149
0.00686
17.877
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000125454
0
ENSG00000263843
0
0
ENSG00000125454
3_prime_UTR_variant
ENSG00000125457
1,835
ENSG00000263843
1,668
1,668
ENSG00000263843
3_prime_UTR_variant
NA
NA
17
75,340,864
T
G
false
distal
840
rs55681135
0.000272
0.027731
96.133
intron_variant
pELS
ENSG00000177885
8,066
ENSG00000228007
1,716
1,716
ENSG00000228007
pELS
ENSG00000177885
19,110
ENSG00000228007
2,036
2,036
ENSG00000228007
distal
NA
NA
17
75,353,716
C
T
true
distal
858
rs4789174
1
BW
0.21241
337.5
intron_variant
dELS_flank
ENSG00000177885
20,918
ENSG00000265987
9,278
9,278
ENSG00000265987
dELS_flank
ENSG00000177885
31,962
ENSG00000265987
9,310
9,310
ENSG00000265987
distal
NA
NA
17
75,440,803
C
A
false
tss_proximal
897
rs59838449
0.000126
0.038314
191.47
upstream_gene_variant
dELS
ENSG00000177728
355
ENSG00000202332
8,715
355
ENSG00000177728
tss_proximal
ENSG00000177728
355
ENSG00000202332
8,812
355
ENSG00000177728
tss_proximal
tss_prox:b1
tss_prox:b1
17
75,441,371
C
T
false
tss_proximal
897
rs9912881
0.000124
0.038822
192.17
intron_variant
dELS_flank
ENSG00000177728
127
ENSG00000202332
9,283
127
ENSG00000177728
tss_proximal
ENSG00000177728
211
ENSG00000202332
9,380
211
ENSG00000177728
tss_proximal
tss_prox:b1
tss_prox:b1
17
75,456,875
T
C
false
tss_proximal
902
rs34042490
0.000165
0.1888
218.84
intron_variant
pELS
ENSG00000177728
123
ENSG00000177728
123
123
ENSG00000177728
tss_proximal
ENSG00000177728
224
ENSG00000177728
214
214
ENSG00000177728
tss_proximal
tss_prox:b1
tss_prox:b1
17
75,489,490
G
A
false
tss_proximal
932
rs141487109
0.000504
0.002344
4.9636
intron_variant
dELS
ENSG00000177728
85
ENSG00000177728
85
85
ENSG00000177728
tss_proximal
ENSG00000177728
1,558
ENSG00000177728
567
567
ENSG00000177728
tss_proximal
tss_prox:b2
tss_prox:b0
17
75,522,482
G
C
false
synonymous_variant
895
rs67746118
0.001043
0.19696
172.37
synonymous_variant
synonymous_variant
ENSG00000182173
0
ENSG00000182173
0
0
ENSG00000182173
synonymous_variant
ENSG00000073350
2,597
ENSG00000182173
669
669
ENSG00000182173
synonymous_variant
NA
NA
17
75,522,769
C
T
false
3_prime_UTR_variant
910
rs1133934
0.005598
0.16609
168.49
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000182173
247
ENSG00000182173
0
0
ENSG00000182173
3_prime_UTR_variant
ENSG00000073350
2,310
ENSG00000182173
382
382
ENSG00000182173
3_prime_UTR_variant
NA
NA
17
75,532,528
A
G
false
5_prime_UTR_variant
891
rs56326161
0.000382
0.1196
106.65
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000073350
0
ENSG00000182173
7,792
0
ENSG00000073350
5_prime_UTR_variant
ENSG00000073350
34
ENSG00000182173
9,375
34
ENSG00000073350
5_prime_UTR_variant
NA
NA
17
75,571,670
C
T
false
missense_variant
822
rs34255252
0.00021
0.00177
12.058
missense_variant
missense_variant
ENSG00000073350
0
ENSG00000073350
0
0
ENSG00000073350
missense_variant
ENSG00000266714
16,129
ENSG00000073350
244
244
ENSG00000073350
missense_variant
NA
NA
17
75,571,720
G
A
false
missense_variant
810
rs148020757
0.000239
0.009359
17.506
missense_variant
missense_variant
ENSG00000073350
0
ENSG00000073350
0
0
ENSG00000073350
missense_variant
ENSG00000266714
16,079
ENSG00000073350
294
294
ENSG00000073350
missense_variant
NA
NA
17
75,573,585
C
T
false
missense_variant
810
rs142772898
0.000075
0.01326
17.519
missense_variant
missense_variant
ENSG00000073350
0
ENSG00000073350
0
0
ENSG00000073350
missense_variant
ENSG00000266714
14,214
ENSG00000073350
7
7
ENSG00000073350
missense_variant
NA
NA
17
75,591,176
A
G
false
missense_variant
827
rs147655466
0.000381
0.026008
115.83
missense_variant
missense_variant
ENSG00000266714
0
ENSG00000266714
0
0
ENSG00000266714
missense_variant
ENSG00000266714
3,375
ENSG00000266714
291
291
ENSG00000266714
missense_variant
NA
NA
17
75,610,229
G
A
false
synonymous_variant
895
rs11657863
0.000605
0.19465
79.717
synonymous_variant
synonymous_variant
ENSG00000266714
0
ENSG00000266714
0
0
ENSG00000266714
synonymous_variant
ENSG00000266714
469
ENSG00000266714
3,063
469
ENSG00000266714
synonymous_variant
NA
NA
17
75,613,031
G
A
false
missense_variant
824
rs820142
0.000161
0.48233
74.158
missense_variant
missense_variant
ENSG00000266714
0
ENSG00000266714
0
0
ENSG00000266714
missense_variant
ENSG00000266714
2,331
ENSG00000266714
261
261
ENSG00000266714
missense_variant
NA
NA
17
75,613,435
C
T
false
missense_variant
827
rs113730899
0.000071
0.02376
108.41
missense_variant
missense_variant
ENSG00000266714
0
ENSG00000266714
0
0
ENSG00000266714
missense_variant
ENSG00000266714
2,735
ENSG00000266714
141
141
ENSG00000266714
missense_variant
NA
NA
17
75,631,119
C
T
false
tss_proximal
932
rs201566064
0.000075
0.002585
8.6533
intron_variant
pELS_flank
ENSG00000108469
30
ENSG00000108469
30
30
ENSG00000108469
tss_proximal
ENSG00000108469
1,676
ENSG00000108469
484
484
ENSG00000108469
tss_proximal
tss_prox:b2
tss_prox:b0
17
75,667,292
A
T
false
5_prime_UTR_variant
892
rs820156
0.000106
0.23979
110.11
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000161526
45
ENSG00000161526
0
0
ENSG00000161526
5_prime_UTR_variant
ENSG00000161526
45
ENSG00000161526
40
40
ENSG00000161526
5_prime_UTR_variant
NA
NA
17
75,678,025
G
A
false
distal
842
rs820134
0.003
0.33263
141.38
intron_variant
pELS
ENSG00000161526
6,161
ENSG00000264829
1,448
1,448
ENSG00000264829
pELS
ENSG00000161526
9,508
ENSG00000264829
1,941
1,941
ENSG00000264829
distal
NA
NA
17
75,678,897
T
C
false
distal
842
rs820135
0.001462
0.34101
143.79
intron_variant
pELS
ENSG00000161526
7,033
ENSG00000264829
576
576
ENSG00000264829
pELS
ENSG00000161526
10,380
ENSG00000264829
1,069
1,069
ENSG00000264829
distal
NA
NA
17
75,689,222
C
T
false
distal
870
rs820221
0.000522
0.34744
140.68
intron_variant
dELS
ENSG00000161526
1,448
ENSG00000161526
1,448
1,448
ENSG00000161526
dELS
ENSG00000161526
2,821
ENSG00000161526
2,347
2,347
ENSG00000161526
distal
NA
NA
17
75,693,838
A
G
false
distal
877
rs820216
0.000998
0.34226
138.6
intron_variant
dELS
ENSG00000161526
355
ENSG00000161526
355
355
ENSG00000161526
dELS
ENSG00000161526
1,291
ENSG00000161526
2,267
1,291
ENSG00000161526
distal
NA
NA
17
75,756,873
C
T
false
tss_proximal
868
rs78884789
0.001206
0.016092
12.009
intron_variant
dELS
ENSG00000132470
13
ENSG00000132470
1,064
13
ENSG00000132470
tss_proximal
ENSG00000132470
165
ENSG00000108479
1,644
165
ENSG00000132470
tss_proximal
tss_prox:b1
tss_prox:b0
17
75,757,422
T
C
false
missense_variant
816
rs871443
0.000187
0.21465
56.186
missense_variant
missense_variant
ENSG00000132470
0
ENSG00000108479
549
0
ENSG00000132470
missense_variant
ENSG00000132470
382
ENSG00000108479
1,095
382
ENSG00000132470
missense_variant
NA
NA
17
75,843,245
C
T
false
missense_variant
832
rs9904366
0.001643
0.01069
57.385
missense_variant
missense_variant
ENSG00000092929
0
ENSG00000092929
0
0
ENSG00000092929
missense_variant
ENSG00000092929
523
ENSG00000092929
498
498
ENSG00000092929
missense_variant
NA
NA
17
75,844,597
G
A
false
5_prime_UTR_variant
890
rs113482537
0.00025
0.020731
43.552
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000092929
0
ENSG00000092929
136
0
ENSG00000092929
5_prime_UTR_variant
ENSG00000092929
44
ENSG00000092929
178
44
ENSG00000092929
5_prime_UTR_variant
NA
NA
17
75,854,859
T
C
true
tss_proximal
902
rs57287238
1
BW
0.18744
162.12
intron_variant
pELS
ENSG00000132471
264
ENSG00000132471
320
264
ENSG00000132471
tss_proximal
ENSG00000132471
344
ENSG00000132471
448
344
ENSG00000132471
tss_proximal
tss_prox:b1
tss_prox:b1
17
75,862,857
A
G
false
distal
859
rs11870121
0.002758
0.20772
167.69
intergenic_variant
dELS_flank
ENSG00000132471
6,349
ENSG00000132471
7,519
6,349
ENSG00000132471
dELS_flank
ENSG00000132471
6,349
ENSG00000132471
7,519
6,349
ENSG00000132471
distal
NA
NA
17
75,862,921
A
G
false
distal
859
rs11870142
0.002708
0.20769
167.69
intergenic_variant
dELS_flank
ENSG00000132471
6,413
ENSG00000132471
7,583
6,413
ENSG00000132471
dELS_flank
ENSG00000132471
6,413
ENSG00000132471
7,583
6,413
ENSG00000132471
distal
NA
NA
17
75,863,105
A
G
false
distal
859
rs55699990
0.002687
0.20768
167.68
intergenic_variant
dELS_flank
ENSG00000132471
6,597
ENSG00000132471
7,767
6,597
ENSG00000132471
dELS_flank
ENSG00000132471
6,597
ENSG00000132471
7,767
6,597
ENSG00000132471
distal
NA
NA
17
75,863,279
T
C
true
distal
859
rs55992471
1
BW
0.2077
167.66
intergenic_variant
dELS_flank
ENSG00000132471
6,771
ENSG00000132471
7,941
6,771
ENSG00000132471
dELS_flank
ENSG00000132471
6,771
ENSG00000132471
7,941
6,771
ENSG00000132471
distal
NA
NA
17
75,880,392
G
A
false
3_prime_UTR_variant
914
rs76154832
0.004052
0.14757
136
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000141569
0
ENSG00000267801
845
0
ENSG00000141569
3_prime_UTR_variant
ENSG00000132481
1,810
ENSG00000132481
2,178
1,810
ENSG00000132481
3_prime_UTR_variant
NA
NA
17
75,888,957
G
A
false
splicing
922
rs8066711
0.00196
0.23017
153.98
intron_variant
dELS_flank
ENSG00000141569
5
ENSG00000141569
895
5
ENSG00000141569
exon_proximal
ENSG00000141569
3,191
ENSG00000141569
7,092
3,191
ENSG00000141569
splicing
NA
splicing:b1
17
75,891,008
C
T
false
missense_variant
823
rs61754864
0.004046
0.013904
26.347
missense_variant
missense_variant
ENSG00000141569
0
ENSG00000141569
0
0
ENSG00000141569
missense_variant
ENSG00000141569
1,140
ENSG00000141569
5,041
1,140
ENSG00000141569
missense_variant
NA
NA
17
75,892,181
G
A
false
missense_variant
823
rs150111787
0.004644
0.008005
11.916
missense_variant
missense_variant
ENSG00000141569
0
ENSG00000141569
0
0
ENSG00000141569
missense_variant
ENSG00000141569
31
ENSG00000141569
3,868
31
ENSG00000141569
missense_variant
NA
NA
17
75,909,668
C
G
false
3_prime_UTR_variant
913
rs536134827
0.002026
0.01399
26.849
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000188878
0
ENSG00000267426
0
0
ENSG00000188878
3_prime_UTR_variant
ENSG00000188878
4,111
ENSG00000267426
148
148
ENSG00000267426
3_prime_UTR_variant
NA
NA
17
75,924,138
C
T
true
tss_proximal
926
rs58587945
1
BW
0.12341
126.92
intron_variant
dELS_flank
ENSG00000188878
496
ENSG00000188878
496
496
ENSG00000188878
tss_proximal
ENSG00000188878
7,150
ENSG00000188878
664
664
ENSG00000188878
tss_proximal
tss_prox:b2
tss_prox:b1
17
75,926,860
T
C
false
missense_variant
825
rs2305913
0.006711
0.34043
168.36
missense_variant
missense_variant
ENSG00000188878
0
ENSG00000188878
0
0
ENSG00000188878
missense_variant
ENSG00000188878
4,428
ENSG00000267426
3,268
3,268
ENSG00000267426
missense_variant
NA
NA
17
75,953,459
G
C
false
missense_variant
825
rs1135640
0.007744
0.34079
169.07
missense_variant
missense_variant
ENSG00000161533
0
ENSG00000161533
0
0
ENSG00000161533
missense_variant
ENSG00000161533
3,926
ENSG00000161533
2,129
2,129
ENSG00000161533
missense_variant
NA
NA
17
76,142,754
C
T
false
3_prime_UTR_variant
911
rs117348350
0.000236
0.007115
29.702
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000141576
0
ENSG00000141576
0
0
ENSG00000141576
3_prime_UTR_variant
ENSG00000129654
1,508
ENSG00000267128
1,237
1,237
ENSG00000267128
3_prime_UTR_variant
NA
NA
17
76,142,937
C
G
false
3_prime_UTR_variant
911
rs62090126
0.000264
0.00543
16.446
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000141576
0
ENSG00000141576
90
0
ENSG00000141576
3_prime_UTR_variant
ENSG00000129654
1,691
ENSG00000267128
1,420
1,420
ENSG00000267128
3_prime_UTR_variant
NA
NA
17
76,144,764
G
T
false
3_prime_UTR_variant
913
rs77315634
0.002209
0.015117
14.042
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000141576
0
ENSG00000267128
0
0
ENSG00000141576
3_prime_UTR_variant
ENSG00000129654
3,518
ENSG00000141576
29
29
ENSG00000141576
3_prime_UTR_variant
NA
NA
17
76,158,415
G
A
false
missense_variant
831
rs61751845
0.000133
0.013907
13.467
missense_variant
missense_variant
ENSG00000141576
0
ENSG00000141576
0
0
ENSG00000141576
missense_variant
ENSG00000141576
2,158
ENSG00000141576
107
107
ENSG00000141576
missense_variant
NA
NA
17
76,163,489
C
T
false
3_prime_UTR_variant
916
rs56280493
0.000714
0.036114
48.407
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000141576
0
ENSG00000141576
1,343
0
ENSG00000141576
3_prime_UTR_variant
ENSG00000141576
3,592
ENSG00000141576
1,343
1,343
ENSG00000141576
3_prime_UTR_variant
NA
NA
17
76,167,678
G
A
false
missense_variant
830
rs61744818
0.000173
0.031851
44.413
missense_variant
missense_variant
ENSG00000141576
0
ENSG00000141576
5,532
0
ENSG00000141576
missense_variant
ENSG00000141576
595
ENSG00000141576
5,532
595
ENSG00000141576
missense_variant
NA
NA
17
76,308,099
C
T
false
5_prime_UTR_variant
887
rs189538460
0.000156
0.008465
53.646
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000129646
0
ENSG00000129646
533
0
ENSG00000129646
5_prime_UTR_variant
ENSG00000129646
100
ENSG00000129646
533
100
ENSG00000129646
5_prime_UTR_variant
NA
NA
17
76,310,445
C
A
false
3_prime_UTR_variant
914
rs6501884
0.002332
0.14575
89.955
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000161542
0
ENSG00000161542
940
0
ENSG00000161542
3_prime_UTR_variant
ENSG00000129646
2,168
ENSG00000129646
2,879
2,168
ENSG00000129646
3_prime_UTR_variant
NA
NA
17
76,310,749
T
C
false
3_prime_UTR_variant
914
rs421612
0.000833
0.15252
89.968
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000161542
0
ENSG00000161542
636
0
ENSG00000161542
3_prime_UTR_variant
ENSG00000129646
2,472
ENSG00000161542
2,990
2,472
ENSG00000129646
3_prime_UTR_variant
NA
NA
17
76,362,672
A
T
true
distal
860
rs4789282
1
BW
0.18311
109.47
intron_variant
dELS_flank
ENSG00000161542
7,742
ENSG00000161542
9,043
7,742
ENSG00000161542
dELS_flank
ENSG00000161542
7,742
ENSG00000161542
9,043
7,742
ENSG00000161542
distal
NA
NA
17
76,385,486
G
A
false
missense_variant
817
rs346803
0.004295
0.12602
116.82
missense_variant
missense_variant
ENSG00000176170
0
ENSG00000176170
0
0
ENSG00000176170
missense_variant
ENSG00000176170
193
ENSG00000176170
536
193
ENSG00000176170
missense_variant
NA
NA
17
76,464,066
T
C
false
distal
847
rs12939873
0.002397
0.34185
71.554
intron_variant
dELS_flank
ENSG00000129673
1,585
ENSG00000129673
3,651
1,585
ENSG00000129673
dELS_flank
ENSG00000129673
3,536
ENSG00000129673
3,651
3,536
ENSG00000129673
distal
NA
NA
17
76,464,503
T
C
false
distal
847
rs12941069
0.003553
0.34179
71.535
intron_variant
dELS_flank
ENSG00000129673
1,379
ENSG00000129673
3,214
1,379
ENSG00000129673
dELS_flank
ENSG00000129673
3,099
ENSG00000129673
3,214
3,099
ENSG00000129673
distal
NA
NA
17
76,466,893
C
T
false
tss_proximal
900
rs57197997
0.000511
0.043272
24.507
intron_variant
pELS
ENSG00000129673
660
ENSG00000129673
824
660
ENSG00000129673
tss_proximal
ENSG00000129673
709
ENSG00000129673
824
709
ENSG00000129673
tss_proximal
tss_prox:b1
tss_prox:b1
17
76,473,918
A
T
false
splicing
909
rs201325813
0.00006
0.00246
4.4616
splice_polypyrimidine_tract_variant
splice_polypyrimidine_tract_variant
ENSG00000129667
15
ENSG00000129667
15
15
ENSG00000129667
splice_polypyrimidine_tract_variant
ENSG00000129667
842
ENSG00000129667
3,812
842
ENSG00000129667
splicing
NA
splicing:b1
17
76,501,225
G
C
false
5_prime_UTR_variant
893
rs143614105
0.000031
0.012432
15.273
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000129667
0
ENSG00000129667
0
0
ENSG00000129667
5_prime_UTR_variant
ENSG00000129667
145
ENSG00000129667
134
134
ENSG00000129667
5_prime_UTR_variant
NA
NA
17
76,556,862
G
T
false
tss_proximal
929
rs34316510
0.000122
0.10184
53.787
intron_variant
pELS
ENSG00000161544
5,686
ENSG00000267546
309
309
ENSG00000267546
tss_proximal
ENSG00000161544
5,686
ENSG00000267546
785
785
ENSG00000267546
tss_proximal
tss_prox:b2
tss_prox:b2
17
76,564,487
G
A
false
3_prime_UTR_variant
918
rs3180348
0.000138
0.1708
64.604
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000284526
0
ENSG00000163597
0
0
ENSG00000284526
3_prime_UTR_variant
ENSG00000284526
6,056
ENSG00000278261
2,852
2,852
ENSG00000278261
3_prime_UTR_variant
NA
NA
17
76,564,871
G
A
false
3_prime_UTR_variant
918
rs11181
0.000146
0.1661
59.965
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000284526
0
ENSG00000163597
0
0
ENSG00000284526
3_prime_UTR_variant
ENSG00000284526
5,672
ENSG00000278261
3,236
3,236
ENSG00000278261
3_prime_UTR_variant
NA
NA
17
76,598,042
A
T
false
distal
884
rs4238998
0.000063
0.37097
157.9
intron_variant
dELS
ENSG00000070731
12,181
ENSG00000267084
2,269
2,269
ENSG00000267084
dELS
ENSG00000070731
12,181
ENSG00000267084
2,269
2,269
ENSG00000267084
distal
NA
NA
17
76,623,045
G
A
false
distal
850
rs4789331
0.000041
0.23376
138.11
intron_variant
dELS_flank
ENSG00000070526
1,717
ENSG00000070526
1,715
1,715
ENSG00000070526
dELS_flank
ENSG00000070526
4,121
ENSG00000070526
3,345
3,345
ENSG00000070526
distal
NA
NA
17
76,654,526
T
C
false
distal
842
rs8182300
0.000296
0.34363
189.39
intron_variant
pELS
ENSG00000070526
10,768
ENSG00000199735
1,793
1,793
ENSG00000199735
pELS
ENSG00000070526
10,768
ENSG00000199735
1,793
1,793
ENSG00000199735
distal
NA
NA
17
76,655,154
A
G
false
distal
842
rs9907915
0.000467
0.34224
189.48
intron_variant
pELS
ENSG00000070526
11,396
ENSG00000199735
1,165
1,165
ENSG00000199735
pELS
ENSG00000070526
11,396
ENSG00000199735
1,165
1,165
ENSG00000199735
distal
NA
NA
17
76,721,304
G
T
false
missense_variant
836
rs189310567
0.000066
0.002849
9.6258
missense_variant
missense_variant
ENSG00000070495
0
ENSG00000274051
0
0
ENSG00000070495
missense_variant
ENSG00000070495
5,198
ENSG00000070495
77
77
ENSG00000070495
missense_variant
NA
NA
17
76,737,228
C
T
false
5_prime_UTR_variant
893
rs140374091
0.000028
0.01184
18.123
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000161547
0
ENSG00000161547
0
0
ENSG00000161547
5_prime_UTR_variant
ENSG00000161547
102
ENSG00000161547
79
79
ENSG00000161547
5_prime_UTR_variant
NA
NA
17
76,811,400
C
A
false
distal
921
rs78121033
0.001148
0.085807
101.46
intergenic_variant
CA_flank
ENSG00000092931
29,950
ENSG00000267065
4,297
4,297
ENSG00000267065
CA_flank
ENSG00000092931
43,958
ENSG00000267065
12,355
12,355
ENSG00000267065
distal
NA
NA
17
76,840,075
A
G
false
distal
841
rs594033
0.000063
0.39267
145.47
intron_variant
pELS
ENSG00000167889
28,328
ENSG00000287836
515
515
ENSG00000287836
pELS
ENSG00000167889
28,328
ENSG00000287836
1,023
1,023
ENSG00000287836
distal
NA
NA
17
76,882,177
G
A
false
missense_variant
813
rs571264
0.000923
0.12913
111.27
missense_variant
missense_variant
ENSG00000167889
0
ENSG00000167889
0
0
ENSG00000167889
missense_variant
ENSG00000167889
9,529
ENSG00000167889
9,465
9,465
ENSG00000167889
missense_variant
NA
NA
17
76,940,347
T
C
false
distal
853
rs920851
0.000057
0.18371
56.605
intron_variant
dELS_flank
ENSG00000167889
54
ENSG00000167889
54
54
ENSG00000167889
dELS_flank
ENSG00000167889
67,699
ENSG00000167889
3,600
3,600
ENSG00000167889
distal
NA
NA
17
77,126,426
C
T
false
distal
847
rs551263
0.002334
0.34293
43.475
intron_variant
dELS_flank
ENSG00000129657
1,446
ENSG00000129657
3,667
1,446
ENSG00000129657
dELS_flank
ENSG00000129657
1,446
ENSG00000129657
3,667
1,446
ENSG00000129657
distal
NA
NA
17
77,197,218
C
G
false
distal
870
rs631730
0.001079
0.34295
81.374
intron_variant
dELS
ENSG00000129657
906
ENSG00000262870
1,731
906
ENSG00000129657
dELS
ENSG00000129657
3,796
ENSG00000262870
2,324
2,324
ENSG00000262870
distal
NA
NA
17
77,320,798
A
G
true
tss_proximal
903
rs1436138
0.999475
DBP,MAP,eBMD
0.35895
49.524
intron_variant
pELS
ENSG00000184640
449
ENSG00000184640
449
449
ENSG00000184640
tss_proximal
ENSG00000184640
484
ENSG00000184640
573
484
ENSG00000184640
tss_proximal
tss_prox:b1
tss_prox:b1
17
77,323,393
A
T
false
tss_proximal
899
rs184112980
0.000151
0.008957
9.7685
intron_variant
pELS
ENSG00000184640
444
ENSG00000184640
312
312
ENSG00000184640
tss_proximal
ENSG00000184640
782
ENSG00000184640
312
312
ENSG00000184640
tss_proximal
tss_prox:b1
tss_prox:b1
17
77,339,266
G
A
false
distal
880
rs55864301
0.000517
0.001895
10.497
intron_variant
dELS
ENSG00000184640
16,317
ENSG00000184640
15,454
15,454
ENSG00000184640
dELS
ENSG00000184640
16,655
ENSG00000184640
15,559
15,559
ENSG00000184640
distal
NA
NA
17
77,373,391
C
T
false
5_prime_UTR_variant
887
rs148740327
0.000081
0.007576
6.7532
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000184640
0
ENSG00000266998
425
0
ENSG00000184640
5_prime_UTR_variant
ENSG00000184640
53
ENSG00000184640
541
53
ENSG00000184640
5_prime_UTR_variant
NA
NA
17
77,402,416
C
T
true
missense_variant
834
rs34587622
0.98686
GGT,eBMD
0.1121
31.507
missense_variant
missense_variant
ENSG00000184640
0
ENSG00000184640
0
0
ENSG00000184640
missense_variant
ENSG00000184640
2,660
ENSG00000184640
314
314
ENSG00000184640
missense_variant
NA
NA
17
77,450,709
C
G
false
5_prime_UTR_variant
889
rs143934204
0.000175
0.0048
50.827
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000184640
0
ENSG00000184640
52
0
ENSG00000184640
5_prime_UTR_variant
ENSG00000184640
27
ENSG00000184640
52
27
ENSG00000184640
5_prime_UTR_variant
NA
NA
17
77,491,095
A
G
false
non_coding_transcript_exon_variant
864
rs57517860
0.000668
0.005386
45.643
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000184640
235
ENSG00000184640
0
0
ENSG00000184640
non_coding_transcript_exon_variant
ENSG00000184640
15,851
ENSG00000184640
286
286
ENSG00000184640
non_coding_transcript_exon_variant
NA
NA
17
77,667,974
G
A
false
distal
856
rs34839765
0.000037
0.07843
23.047
intron_variant
dELS_flank
ENSG00000184640
167,377
ENSG00000285535
785
785
ENSG00000285535
dELS_flank
ENSG00000184640
192,730
ENSG00000267790
60,584
60,584
ENSG00000267790
distal
NA
NA
17
78,064,785
C
G
false
missense_variant
818
rs34293811
0.00013
0.11062
130.64
missense_variant
missense_variant
ENSG00000078687
0
ENSG00000078687
0
0
ENSG00000078687
missense_variant
ENSG00000078687
15,871
ENSG00000078687
108
108
ENSG00000078687
missense_variant
NA
NA
17
78,131,350
G
C
true
5_prime_UTR_variant
892
rs383603
0.91834
MCV
0.24443
24.731
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000167895
0
ENSG00000141524
0
0
ENSG00000167895
5_prime_UTR_variant
ENSG00000167895
561
ENSG00000141524
46
46
ENSG00000141524
5_prime_UTR_variant
NA
NA
17
78,131,657
G
A
false
synonymous_variant
896
rs35748721
0.00005
0.008073
10.876
synonymous_variant
synonymous_variant
ENSG00000167895
0
ENSG00000167895
0
0
ENSG00000167895
synonymous_variant
ENSG00000141524
749
ENSG00000141524
259
259
ENSG00000141524
synonymous_variant
NA
NA
17
78,131,665
T
C
false
missense_variant
835
rs145016347
0.000352
0.030814
31.529
missense_variant
missense_variant
ENSG00000167895
0
ENSG00000167895
0
0
ENSG00000167895
missense_variant
ENSG00000141524
741
ENSG00000141524
267
267
ENSG00000141524
missense_variant
NA
NA
17
78,134,906
G
T
true
missense_variant
835
rs112802399
1
HbA1c
0.033129
32.701
missense_variant
missense_variant
ENSG00000167895
0
ENSG00000167895
0
0
ENSG00000167895
missense_variant
ENSG00000141524
2,498
ENSG00000167895
37
37
ENSG00000167895
missense_variant
NA
NA
17
78,138,019
G
A
false
missense_variant
836
rs151076155
0.000121
0.003311
6.7433
missense_variant
missense_variant
ENSG00000167895
0
ENSG00000167895
0
0
ENSG00000167895
missense_variant
ENSG00000141524
5,611
ENSG00000167895
343
343
ENSG00000167895
missense_variant
NA
NA
17
78,138,386
C
T
true
missense_variant
836
rs144120533
1
HbA1c,MCV,RBC
0.00315
6.7132
missense_variant
missense_variant
ENSG00000167895
0
ENSG00000167895
0
0
ENSG00000167895
missense_variant
ENSG00000141524
5,978
ENSG00000167895
22
22
ENSG00000167895
missense_variant
NA
NA
17
78,140,913
C
T
false
missense_variant
812
rs139972217
0.000207
0.004025
7.2042
missense_variant
missense_variant
ENSG00000167895
0
ENSG00000167895
0
0
ENSG00000167895
missense_variant
ENSG00000187997
5,471
ENSG00000167895
2,549
2,549
ENSG00000167895
missense_variant
NA
NA
17
78,160,963
C
T
false
missense_variant
832
rs72898209
0.000084
0.010441
15.54
missense_variant
missense_variant
ENSG00000187997
0
ENSG00000187997
0
0
ENSG00000187997
missense_variant
ENSG00000187997
76
ENSG00000187997
898
76
ENSG00000187997
missense_variant
NA
NA
17
78,169,161
G
A
false
5_prime_UTR_variant
887
rs572500223
0.000104
0.007332
13.792
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000108639
0
ENSG00000108639
445
0
ENSG00000108639
5_prime_UTR_variant
ENSG00000108639
2
ENSG00000108639
522
2
ENSG00000108639
5_prime_UTR_variant
NA
NA
17
78,187,152
C
T
true
5_prime_UTR_variant
893
rs144204502
0.999495
MCH,MCV
0.012468
30.673
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000167900
0
ENSG00000167900
130
0
ENSG00000167900
5_prime_UTR_variant
ENSG00000167900
80
ENSG00000167900
130
80
ENSG00000167900
5_prime_UTR_variant
NA
NA
17
78,234,103
C
T
false
missense_variant
815
rs78780583
0.000966
0.10279
33.875
missense_variant
missense_variant
ENSG00000204278
0
ENSG00000089685
10,246
0
ENSG00000204278
missense_variant
ENSG00000204278
2,078
ENSG00000283914
14,089
2,078
ENSG00000204278
missense_variant
NA
NA
17
78,234,612
T
G
false
missense_variant
815
rs79885699
0.000077
0.13249
69.366
missense_variant
missense_variant
ENSG00000204278
0
ENSG00000089685
10,755
0
ENSG00000204278
missense_variant
ENSG00000204278
2,587
ENSG00000283914
13,580
2,587
ENSG00000204278
missense_variant
NA
NA
17
78,252,934
A
G
false
distal
842
rs72909025
0.001573
0.33708
69.652
intron_variant
pELS
ENSG00000204278
11,946
ENSG00000267676
734
734
ENSG00000267676
pELS
ENSG00000204278
20,909
ENSG00000267676
1,481
1,481
ENSG00000267676
distal
NA
NA
17
78,275,000
G
A
false
distal
862
rs7214289
0.000231
0.47677
39.373
intron_variant
dELS_flank
ENSG00000204278
34,012
ENSG00000204277
3,032
3,032
ENSG00000204277
dELS_flank
ENSG00000204278
42,975
ENSG00000204277
3,491
3,491
ENSG00000204277
distal
NA
NA
17
78,346,801
A
C
true
distal
884
rs57933884
0.999175
CRP
0.3732
26.994
intron_variant
dELS
ENSG00000184557
9,976
ENSG00000267737
555
555
ENSG00000267737
dELS
ENSG00000184557
13,272
ENSG00000267737
4,063
4,063
ENSG00000267737
distal
NA
NA
17
78,349,028
A
C
true
distal
861
rs11658269
1
CRP
0.14024
22.449
intergenic_variant
dELS_flank
ENSG00000184557
7,749
ENSG00000267737
1,229
1,229
ENSG00000267737
dELS_flank
ENSG00000184557
11,045
ENSG00000267737
6,290
6,290
ENSG00000267737
distal
NA
NA
17
78,358,045
C
T
true
3_prime_UTR_variant
917
rs41522945
0.99522
CRP
0.063064
12.388
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000184557
0
ENSG00000266970
2,330
0
ENSG00000184557
3_prime_UTR_variant
ENSG00000184557
2,028
ENSG00000266970
2,330
2,028
ENSG00000184557
3_prime_UTR_variant
NA
NA