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
7,668,434
T
G
true
3_prime_UTR_variant
912
rs78378222
1
ApoA,BW,Benign_Neoplasms,DBP,Height,LOY,MCH,MCV,Malignant_Neoplasms,PP,RBC,SkC,UF
0.012616
31.4
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000141510
0
ENSG00000141510
1,008
0
ENSG00000141510
3_prime_UTR_variant
ENSG00000141510
5,152
ENSG00000141510
6,684
5,152
ENSG00000141510
3_prime_UTR_variant
NA
NA
17
7,674,089
A
C
false
tss_proximal
869
rs12951053
0.009214
0.074579
72.316
intron_variant
TF_flank
ENSG00000141510
91
ENSG00000141510
91
91
ENSG00000141510
tss_proximal
ENSG00000141510
501
ENSG00000141510
1,029
501
ENSG00000141510
tss_proximal
tss_prox:b1
tss_prox:b0
17
7,674,109
G
A
false
tss_proximal
869
rs12947788
0.00823
0.074541
72.298
intron_variant
TF_flank
ENSG00000141510
71
ENSG00000141510
71
71
ENSG00000141510
tss_proximal
ENSG00000141510
521
ENSG00000141510
1,009
521
ENSG00000141510
tss_proximal
tss_prox:b1
tss_prox:b0
17
7,675,353
C
T
true
5_prime_UTR_variant
890
rs35850753
0.99383
Lym
0.020105
44
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000141510
0
ENSG00000141510
116
0
ENSG00000141510
5_prime_UTR_variant
ENSG00000141510
139
ENSG00000141510
233
139
ENSG00000141510
5_prime_UTR_variant
NA
NA
17
7,676,121
G
A
false
missense_variant
829
rs201717599
0.000072
0.001225
7.1158
missense_variant
missense_variant
ENSG00000141510
0
ENSG00000141510
0
0
ENSG00000141510
missense_variant
ENSG00000141510
472
ENSG00000141510
1,001
472
ENSG00000141510
missense_variant
NA
NA
17
7,688,404
G
C
false
5_prime_UTR_variant
890
rs17883670
0.000424
0.020243
16.646
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000141499
0
ENSG00000141499
0
0
ENSG00000141499
5_prime_UTR_variant
ENSG00000141499
72
ENSG00000141499
30
30
ENSG00000141499
5_prime_UTR_variant
NA
NA
17
7,701,153
A
G
false
3_prime_UTR_variant
910
rs60815182
0.00123
0.16885
83.162
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000141499
305
ENSG00000141499
0
0
ENSG00000141499
3_prime_UTR_variant
ENSG00000108947
4,048
ENSG00000141499
503
503
ENSG00000141499
3_prime_UTR_variant
NA
NA
17
7,839,283
G
A
true
tss_proximal
900
rs74480102
1
Eosino,Neutro,WBC
0.042974
39.996
intron_variant
pELS
ENSG00000132510
620
ENSG00000132510
620
620
ENSG00000132510
tss_proximal
ENSG00000132510
620
ENSG00000132510
620
620
ENSG00000132510
tss_proximal
tss_prox:b1
tss_prox:b1
17
7,858,194
C
A
false
missense_variant
834
rs12453250
0.002038
0.10899
54.248
missense_variant
missense_variant
ENSG00000182224
0
ENSG00000182224
0
0
ENSG00000182224
missense_variant
ENSG00000183011
114
ENSG00000182224
88
88
ENSG00000182224
missense_variant
NA
NA
17
7,888,408
C
G
false
tss_proximal
900
rs59090856
0.003964
0.041579
32.726
intron_variant
pELS
ENSG00000170004
380
ENSG00000170004
564
380
ENSG00000170004
tss_proximal
ENSG00000170004
380
ENSG00000170004
647
380
ENSG00000170004
tss_proximal
tss_prox:b1
tss_prox:b1
17
7,932,133
A
G
false
5_prime_UTR_variant
890
rs9894029
0.000126
0.020735
32.268
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000170037
0
ENSG00000170043
170
0
ENSG00000170037
5_prime_UTR_variant
ENSG00000170043
9
ENSG00000170043
170
9
ENSG00000170043
5_prime_UTR_variant
NA
NA
17
7,933,640
T
C
false
tss_proximal
904
rs4239115
0.001804
0.46696
146.99
intron_variant
pELS
ENSG00000170037
290
ENSG00000170037
290
290
ENSG00000170037
tss_proximal
ENSG00000170037
559
ENSG00000170037
522
522
ENSG00000170037
tss_proximal
tss_prox:b1
tss_prox:b1
17
7,944,637
C
A
false
missense_variant
824
rs11650083
0.002091
0.46226
146.87
missense_variant
missense_variant
ENSG00000170037
0
ENSG00000170037
0
0
ENSG00000170037
missense_variant
ENSG00000170037
2,986
ENSG00000170037
693
693
ENSG00000170037
missense_variant
NA
NA
17
7,997,195
G
A
false
distal
857
rs186416341
0.000422
0.007683
11.115
intergenic_variant
dELS_flank
ENSG00000132518
5,419
ENSG00000279174
16,131
5,419
ENSG00000132518
dELS_flank
ENSG00000132518
5,419
ENSG00000132518
18,933
5,419
ENSG00000132518
distal
NA
NA
17
7,997,681
C
T
false
distal
857
rs558057348
0.000028
0.000552
5.8426
intergenic_variant
dELS_flank
ENSG00000132518
4,933
ENSG00000279174
15,645
4,933
ENSG00000132518
dELS_flank
ENSG00000132518
4,933
ENSG00000132518
18,447
4,933
ENSG00000132518
distal
NA
NA
17
8,033,389
G
A
false
distal
854
rs12946246
0.000903
0.27486
38.315
intergenic_variant
dELS_flank
ENSG00000179593
5,644
ENSG00000179593
5,711
5,644
ENSG00000179593
dELS_flank
ENSG00000179593
5,644
ENSG00000179593
5,711
5,644
ENSG00000179593
distal
NA
NA
17
8,111,245
C
T
false
distal
875
rs3027210
0.001144
0.42408
36.898
intron_variant
dELS
ENSG00000179148
113
ENSG00000179148
7,729
113
ENSG00000179148
dELS
ENSG00000179148
7,243
ENSG00000179148
7,729
7,243
ENSG00000179148
distal
NA
NA
17
8,172,848
A
G
false
3_prime_UTR_variant
915
rs9894148
0.003396
0.33963
140.71
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000179029
0
ENSG00000200463
605
0
ENSG00000179029
3_prime_UTR_variant
ENSG00000179029
3,467
ENSG00000200463
738
738
ENSG00000200463
3_prime_UTR_variant
NA
NA
17
8,173,484
T
A
false
3_prime_UTR_variant
915
rs9901637
0.004437
0.3395
140.7
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000179029
0
ENSG00000200463
0
0
ENSG00000179029
3_prime_UTR_variant
ENSG00000179029
2,831
ENSG00000200463
102
102
ENSG00000200463
3_prime_UTR_variant
NA
NA
17
8,211,233
C
T
false
tss_proximal
900
rs62063108
0.005898
0.043135
58.535
upstream_gene_variant
pELS
ENSG00000178999
648
ENSG00000178999
632
632
ENSG00000178999
tss_proximal
ENSG00000178999
648
ENSG00000178999
632
632
ENSG00000178999
tss_proximal
tss_prox:b1
tss_prox:b1
17
8,234,419
G
A
false
tss_proximal
931
rs4792621
0.006755
0.14284
82.695
intron_variant
dELS_flank
ENSG00000178971
35
ENSG00000178971
35
35
ENSG00000178971
tss_proximal
ENSG00000178921
13,198
ENSG00000178971
946
946
ENSG00000178971
tss_proximal
tss_prox:b2
tss_prox:b0
17
8,257,799
C
G
false
splicing
909
rs56794556
0.000205
0.000017
60.53
splice_polypyrimidine_tract_variant
splice_polypyrimidine_tract_variant
ENSG00000178921
7
ENSG00000178921
7
7
ENSG00000178921
splice_polypyrimidine_tract_variant
ENSG00000178921
3,860
ENSG00000178921
4,660
3,860
ENSG00000178921
splicing
NA
splicing:b1
17
8,294,964
T
C
false
5_prime_UTR_variant
890
rs17807507
0.00018
0.019852
32.895
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000125434
0
ENSG00000125434
127
0
ENSG00000125434
5_prime_UTR_variant
ENSG00000125434
111
ENSG00000125434
127
111
ENSG00000125434
5_prime_UTR_variant
NA
NA
17
8,340,280
C
T
false
missense_variant
834
rs73250854
0.000143
0.11657
81.078
missense_variant
missense_variant
ENSG00000184650
0
ENSG00000184650
119
0
ENSG00000184650
missense_variant
ENSG00000184650
409
ENSG00000184650
177
177
ENSG00000184650
missense_variant
NA
NA
17
8,373,318
A
G
false
distal
877
rs2909440
0.00048
0.3418
87.94
intron_variant
dELS
ENSG00000184619
1,236
ENSG00000265749
172
172
ENSG00000265749
dELS
ENSG00000184619
3,339
ENSG00000265749
2,691
2,691
ENSG00000265749
distal
NA
NA
17
8,373,897
A
G
false
distal
877
rs2909441
0.000416
0.34274
87.81
intron_variant
dELS
ENSG00000184619
1,815
ENSG00000265749
80
80
ENSG00000265749
dELS
ENSG00000184619
2,760
ENSG00000265749
2,112
2,112
ENSG00000265749
distal
NA
NA
17
8,376,691
C
G
false
5_prime_UTR_variant
888
rs389289
0.009864
0.26131
110.82
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000184619
0
ENSG00000265749
383
0
ENSG00000184619
5_prime_UTR_variant
ENSG00000184619
9
ENSG00000265749
383
9
ENSG00000184619
5_prime_UTR_variant
NA
NA
17
8,405,463
G
A
false
distal
875
rs11078745
0.000399
0.4234
65.309
intergenic_variant
dELS
ENSG00000189051
7,635
ENSG00000166579
7,668
7,635
ENSG00000189051
dELS
ENSG00000189051
7,635
ENSG00000166579
7,668
7,635
ENSG00000189051
distal
NA
NA
17
8,421,467
A
G
false
distal
859
rs2030126
0.000173
0.20707
42.959
intron_variant
dELS_flank
ENSG00000166579
8,197
ENSG00000166579
8,197
8,197
ENSG00000166579
dELS_flank
ENSG00000166579
8,335
ENSG00000166579
8,271
8,271
ENSG00000166579
distal
NA
NA
17
8,645,331
C
T
false
distal
907
rs116982102
0.000211
0.010922
19.597
intergenic_variant
intergenic_variant
ENSG00000133026
13,954
ENSG00000133026
14,008
13,954
ENSG00000133026
intergenic_variant
ENSG00000133026
13,954
ENSG00000133026
14,008
13,954
ENSG00000133026
distal
NA
NA
17
8,653,066
T
C
false
distal
908
rs34697307
0.000131
0.33563
85.273
intergenic_variant
intergenic_variant
ENSG00000133026
21,689
ENSG00000133026
21,743
21,689
ENSG00000133026
intergenic_variant
ENSG00000133026
21,689
ENSG00000133026
21,743
21,689
ENSG00000133026
distal
NA
NA
17
8,657,699
T
C
false
distal
908
rs3859230
0.000181
0.34785
50.091
intergenic_variant
intergenic_variant
ENSG00000133026
26,322
ENSG00000133026
26,376
26,322
ENSG00000133026
intergenic_variant
ENSG00000133026
26,322
ENSG00000133026
26,376
26,322
ENSG00000133026
distal
NA
NA
17
8,715,477
G
A
false
distal
906
rs11078762
0.000369
0.45467
102.06
intergenic_variant
intergenic_variant
ENSG00000161973
14,457
ENSG00000183318
37,628
14,457
ENSG00000161973
intergenic_variant
ENSG00000161973
29,309
ENSG00000183318
43,081
29,309
ENSG00000161973
distal
NA
NA
17
8,760,530
C
A
false
distal
905
rs183057762
0.000745
0.004658
11.609
intergenic_variant
intergenic_variant
ENSG00000183318
1,970
ENSG00000183318
1,970
1,970
ENSG00000183318
intergenic_variant
ENSG00000183318
1,970
ENSG00000183318
1,970
1,970
ENSG00000183318
distal
NA
NA
17
8,771,974
C
T
false
distal
907
rs140178174
0.000072
0.016585
12.787
intergenic_variant
intergenic_variant
ENSG00000183318
13,414
ENSG00000183318
13,414
13,414
ENSG00000183318
intergenic_variant
ENSG00000183318
13,414
ENSG00000183318
13,414
13,414
ENSG00000183318
distal
NA
NA
17
8,857,168
G
A
false
distal
879
rs4310906
0.000029
0.000395
23.532
intron_variant
dELS
ENSG00000276231
7,282
ENSG00000276231
7,282
7,282
ENSG00000276231
dELS
ENSG00000276231
10,505
ENSG00000276231
10,491
10,491
ENSG00000276231
distal
NA
NA
17
8,888,711
A
G
false
missense_variant
836
rs141086831
0.000188
0.003681
6.2536
missense_variant
missense_variant
ENSG00000141506
0
ENSG00000141506
0
0
ENSG00000141506
missense_variant
ENSG00000141506
6,841
ENSG00000141506
197
197
ENSG00000141506
missense_variant
NA
NA
17
9,013,151
A
T
true
distal
906
rs11078776
0.9988
eBMD
0.45316
46.326
intergenic_variant
intergenic_variant
ENSG00000065320
8,358
ENSG00000265975
36,155
8,358
ENSG00000065320
intergenic_variant
ENSG00000065320
8,358
ENSG00000265975
45,627
8,358
ENSG00000065320
distal
NA
NA
17
9,016,098
C
A
false
distal
906
rs58772677
0.000574
0.41335
49.065
intergenic_variant
intergenic_variant
ENSG00000065320
5,411
ENSG00000265975
39,102
5,411
ENSG00000065320
intergenic_variant
ENSG00000065320
5,411
ENSG00000265975
48,574
5,411
ENSG00000065320
distal
NA
NA
17
9,402,888
T
C
false
distal
882
rs9893856
0.000039
0.22833
62.496
intron_variant
dELS
ENSG00000170310
24,234
ENSG00000170310
24,234
24,234
ENSG00000170310
dELS
ENSG00000170310
172,931
ENSG00000170310
35,000
35,000
ENSG00000170310
distal
NA
NA
17
9,409,015
C
G
false
distal
882
rs11078798
0.000156
0.19938
28.404
intron_variant
dELS
ENSG00000170310
30,361
ENSG00000170310
28,781
28,781
ENSG00000170310
dELS
ENSG00000170310
166,804
ENSG00000170310
28,873
28,873
ENSG00000170310
distal
NA
NA
17
9,820,239
C
T
false
distal
844
rs17207850
0.000007
0.014688
5.8
intron_variant
pELS_flank
ENSG00000214978
1,522
ENSG00000065325
5,664
1,522
ENSG00000214978
pELS_flank
ENSG00000214978
1,839
ENSG00000065325
5,664
1,839
ENSG00000214978
distal
NA
NA
17
9,860,036
C
T
false
missense_variant
821
rs145296340
0.000006
0.002977
3.9796
missense_variant
missense_variant
ENSG00000065325
0
ENSG00000065325
0
0
ENSG00000065325
missense_variant
ENSG00000065325
17,550
ENSG00000265593
6,729
6,729
ENSG00000265593
missense_variant
NA
NA
17
10,045,785
A
G
false
distal
860
rs11650065
0.000009
0.17701
30.399
intron_variant
dELS_flank
ENSG00000007237
5,989
ENSG00000007237
9,083
5,989
ENSG00000007237
dELS_flank
ENSG00000007237
9,037
ENSG00000007237
9,083
9,037
ENSG00000007237
distal
NA
NA
17
10,320,380
G
T
false
missense_variant
818
rs2074876
0.000009
0.09602
30.029
missense_variant
missense_variant
ENSG00000006788
0
ENSG00000264067
11
0
ENSG00000006788
missense_variant
ENSG00000006788
44,163
ENSG00000264067
11
11
ENSG00000264067
missense_variant
NA
NA
17
10,336,417
C
T
false
distal
919
rs72814768
0.000035
0.16431
65.455
intron_variant
CA_flank
ENSG00000006788
3,225
ENSG00000264067
4,646
3,225
ENSG00000006788
CA_flank
ENSG00000006788
28,126
ENSG00000264067
16,024
16,024
ENSG00000264067
distal
NA
NA
17
10,429,872
C
T
false
distal
855
rs7215183
0.000008
0.011123
12.426
intron_variant
dELS_flank
ENSG00000133020
7,921
ENSG00000272736
23,594
7,921
ENSG00000133020
dELS_flank
ENSG00000133020
7,921
ENSG00000272736
46,715
7,921
ENSG00000133020
distal
NA
NA
17
10,631,643
C
T
false
missense_variant
833
rs34393601
0.000007
0.021116
29.689
missense_variant
missense_variant
ENSG00000109063
0
ENSG00000109063
1,613
0
ENSG00000109063
missense_variant
ENSG00000109063
25,665
ENSG00000109063
1,613
1,613
ENSG00000109063
missense_variant
NA
NA
17
10,642,813
T
G
false
splicing
922
rs2285468
0.000006
0.23212
115.36
intron_variant
intron_variant
ENSG00000109063
12
ENSG00000109063
5,821
12
ENSG00000109063
exon_proximal
ENSG00000109063
14,495
ENSG00000109063
9,154
9,154
ENSG00000109063
splicing
NA
splicing:b1
17
10,715,475
G
C
false
missense_variant
810
rs116497896
0.00007
0.008905
12.474
missense_variant
missense_variant
ENSG00000187824
0
ENSG00000187824
0
0
ENSG00000187824
missense_variant
ENSG00000187824
9,643
ENSG00000264176
954
954
ENSG00000264176
missense_variant
NA
NA
17
11,278,825
C
A
false
distal
876
rs12945869
0.000016
0.01538
52.548
intron_variant
dELS
ENSG00000188803
15,298
ENSG00000264727
9,379
9,379
ENSG00000264727
dELS
ENSG00000188803
36,883
ENSG00000264727
9,379
9,379
ENSG00000264727
distal
NA
NA
17
11,632,732
G
A
false
splicing
922
rs11655911
0.00001
0.26231
72.601
intron_variant
intron_variant
ENSG00000007174
28
ENSG00000007174
2,217
28
ENSG00000007174
exon_proximal
ENSG00000007174
20,969
ENSG00000007174
15,331
15,331
ENSG00000007174
splicing
NA
splicing:b1
17
11,923,795
G
A
false
splicing
923
rs28622261
0.000012
0.14988
136.08
intron_variant
dELS_flank
ENSG00000007174
18
ENSG00000007174
18
18
ENSG00000007174
exon_proximal
ENSG00000007174
40,892
ENSG00000007174
39,460
39,460
ENSG00000007174
splicing
NA
splicing:b1
17
11,969,450
T
C
false
missense_variant
820
rs8074656
0.00001
0.000059
29.87
missense_variant
missense_variant
ENSG00000007174
0
ENSG00000007174
0
0
ENSG00000007174
missense_variant
ENSG00000154957
21,562
ENSG00000266368
8,143
8,143
ENSG00000266368
missense_variant
NA
NA
17
12,181,012
G
A
false
distal
882
rs7210691
0.000032
0.19936
131.34
intergenic_variant
dELS
ENSG00000065559
37,181
ENSG00000265400
20,587
20,587
ENSG00000265400
dELS
ENSG00000065559
160,134
ENSG00000265400
20,587
20,587
ENSG00000265400
distal
NA
NA
17
12,181,408
A
G
false
distal
882
rs7210935
0.00003
0.19921
131.64
intergenic_variant
dELS
ENSG00000065559
37,577
ENSG00000265400
20,191
20,191
ENSG00000265400
dELS
ENSG00000065559
160,530
ENSG00000265400
20,191
20,191
ENSG00000265400
distal
NA
NA
17
12,181,471
A
T
false
distal
882
rs7211076
0.000031
0.19937
131.66
intergenic_variant
dELS
ENSG00000065559
37,640
ENSG00000265400
20,128
20,128
ENSG00000265400
dELS
ENSG00000065559
160,593
ENSG00000265400
20,128
20,128
ENSG00000265400
distal
NA
NA
17
12,181,671
G
A
false
distal
882
rs9906531
0.00003
0.19934
131.7
intergenic_variant
dELS
ENSG00000065559
37,840
ENSG00000265400
19,928
19,928
ENSG00000265400
dELS
ENSG00000065559
160,793
ENSG00000265400
19,928
19,928
ENSG00000265400
distal
NA
NA
17
12,181,687
C
T
false
distal
882
rs7215351
0.00003
0.19885
131.53
intergenic_variant
dELS
ENSG00000065559
37,856
ENSG00000265400
19,912
19,912
ENSG00000265400
dELS
ENSG00000065559
160,809
ENSG00000265400
19,912
19,912
ENSG00000265400
distal
NA
NA
17
12,209,730
G
A
true
distal
871
rs529303494
0.946595
sCr
0.005404
10.319
intron_variant
dELS
ENSG00000065559
65,899
ENSG00000265400
1,391
1,391
ENSG00000265400
dELS
ENSG00000065559
188,852
ENSG00000265400
8,129
8,129
ENSG00000265400
distal
NA
NA
17
12,209,834
A
C
false
distal
871
rs7223753
0.000812
0.011354
25.937
intron_variant
dELS
ENSG00000065559
66,003
ENSG00000265400
1,287
1,287
ENSG00000265400
dELS
ENSG00000065559
188,956
ENSG00000265400
8,233
8,233
ENSG00000265400
distal
NA
NA
17
12,209,887
A
T
false
distal
871
rs79273725
0.000842
0.011351
25.939
intron_variant
dELS
ENSG00000065559
66,056
ENSG00000265400
1,234
1,234
ENSG00000265400
dELS
ENSG00000065559
189,009
ENSG00000265400
8,286
8,286
ENSG00000265400
distal
NA
NA
17
12,209,908
C
G
false
distal
871
rs138149655
0.000825
0.011353
25.936
intron_variant
dELS
ENSG00000065559
66,077
ENSG00000265400
1,213
1,213
ENSG00000265400
dELS
ENSG00000065559
189,030
ENSG00000265400
8,307
8,307
ENSG00000265400
distal
NA
NA
17
12,209,918
G
A
false
distal
871
rs187337479
0.00001
0.010287
16.861
intron_variant
dELS
ENSG00000065559
66,087
ENSG00000265400
1,203
1,203
ENSG00000265400
dELS
ENSG00000065559
189,040
ENSG00000265400
8,317
8,317
ENSG00000265400
distal
NA
NA
17
12,395,161
G
T
false
non_coding_transcript_exon_variant
865
rs138003395
0.002141
0.011575
18.464
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000065559
251,330
ENSG00000286617
0
0
ENSG00000286617
non_coding_transcript_exon_variant
ENSG00000141052
270,728
ENSG00000286617
15
15
ENSG00000286617
non_coding_transcript_exon_variant
NA
NA
17
12,608,251
C
T
false
distal
924
rs1989504
0.000036
0.37815
83.698
intron_variant
intron_variant
ENSG00000141052
57,638
ENSG00000287462
2,246
2,246
ENSG00000287462
intron_variant
ENSG00000141052
57,638
ENSG00000179136
17,615
17,615
ENSG00000179136
distal
NA
NA
17
12,608,759
A
G
false
distal
924
rs12450472
0.000038
0.37813
83.685
intron_variant
intron_variant
ENSG00000141052
57,130
ENSG00000287462
2,754
2,754
ENSG00000287462
intron_variant
ENSG00000141052
57,130
ENSG00000179136
18,123
18,123
ENSG00000179136
distal
NA
NA
17
12,791,838
C
T
false
distal
845
rs17630644
0.000019
0.038078
17.422
intron_variant
pELS_flank
ENSG00000006740
1,946
ENSG00000006740
1,092
1,092
ENSG00000006740
pELS_flank
ENSG00000006740
2,077
ENSG00000006740
1,346
1,346
ENSG00000006740
distal
NA
NA
17
12,941,064
C
G
false
missense_variant
821
rs190228329
0.000027
0.000201
3.2768
missense_variant
missense_variant
ENSG00000006740
0
ENSG00000006740
0
0
ENSG00000006740
missense_variant
ENSG00000006740
14,699
ENSG00000006740
8,616
8,616
ENSG00000006740
missense_variant
NA
NA
17
12,961,462
T
C
false
distal
919
rs11078099
0.000021
0.16007
142.31
intron_variant
CA_flank
ENSG00000006740
2,564
ENSG00000006740
2,416
2,416
ENSG00000006740
CA_flank
ENSG00000006740
5,697
ENSG00000006740
11,780
5,697
ENSG00000006740
distal
NA
NA
17
12,989,626
G
C
false
tss_proximal
926
rs2072262
0.000027
0.12239
171.03
intron_variant
pELS_flank
ENSG00000006740
405
ENSG00000006740
405
405
ENSG00000006740
tss_proximal
ENSG00000006740
9,517
ENSG00000263707
983
983
ENSG00000263707
tss_proximal
tss_prox:b2
tss_prox:b1
17
14,206,977
G
T
false
missense_variant
833
rs111541535
0.000012
0.01465
36.254
missense_variant
missense_variant
ENSG00000006695
0
ENSG00000006695
0
0
ENSG00000006695
missense_variant
ENSG00000223510
29,884
ENSG00000006695
3,510
3,510
ENSG00000006695
missense_variant
NA
NA
17
14,301,093
T
C
false
5_prime_UTR_variant
892
rs2072242
0.000103
0.2411
60.467
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000125430
0
ENSG00000125430
0
0
ENSG00000125430
5_prime_UTR_variant
ENSG00000125430
11
ENSG00000125430
9
9
ENSG00000125430
5_prime_UTR_variant
NA
NA
17
14,301,383
G
A
false
5_prime_UTR_variant
890
rs571323205
0.000027
0.019842
11.274
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000125430
0
ENSG00000125430
0
0
ENSG00000125430
5_prime_UTR_variant
ENSG00000125430
301
ENSG00000125430
299
299
ENSG00000125430
5_prime_UTR_variant
NA
NA
17
15,231,004
G
A
false
missense_variant
819
rs74361095
0.000055
0.00002
7.5623
missense_variant
missense_variant
ENSG00000109099
0
ENSG00000109099
0
0
ENSG00000109099
missense_variant
ENSG00000109099
29,756
ENSG00000109099
917
917
ENSG00000109099
missense_variant
NA
NA
17
15,239,437
C
T
false
missense_variant
820
rs78099380
0.000012
0.000043
29.505
missense_variant
missense_variant
ENSG00000109099
0
ENSG00000109099
33
0
ENSG00000109099
missense_variant
ENSG00000109099
21,323
ENSG00000109099
7,514
7,514
ENSG00000109099
missense_variant
NA
NA
17
15,269,904
C
A
false
distal
870
rs179521
0.000208
0.3483
96.892
intron_variant
dELS
ENSG00000109099
1,767
ENSG00000109099
1,289
1,289
ENSG00000109099
dELS
ENSG00000109099
2,102
ENSG00000109099
2,376
2,102
ENSG00000109099
distal
NA
NA
17
15,369,288
T
C
false
distal
862
rs230885
0.003284
0.46819
60.93
intergenic_variant
dELS_flank
ENSG00000125409
27,655
ENSG00000279567
3,410
3,410
ENSG00000279567
dELS_flank
ENSG00000125409
27,655
ENSG00000279567
3,964
3,964
ENSG00000279567
distal
NA
NA
17
15,387,789
G
C
false
distal
924
rs7216460
0.000048
0.39857
31.288
intron_variant
intron_variant
ENSG00000125409
46,156
ENSG00000266667
5,667
5,667
ENSG00000266667
intron_variant
ENSG00000125409
46,156
ENSG00000239888
20,594
20,594
ENSG00000239888
distal
NA
NA
17
15,388,114
T
G
false
distal
924
rs7217842
0.000051
0.39555
31.153
intron_variant
intron_variant
ENSG00000125409
46,481
ENSG00000266667
5,992
5,992
ENSG00000266667
intron_variant
ENSG00000125409
46,481
ENSG00000239888
20,269
20,269
ENSG00000239888
distal
NA
NA
17
15,437,866
A
C
false
missense_variant
818
rs2954759
0.000028
0.093215
70.338
missense_variant
missense_variant
ENSG00000239704
0
ENSG00000239704
0
0
ENSG00000239704
missense_variant
ENSG00000239704
29,754
ENSG00000234324
5,772
5,772
ENSG00000234324
missense_variant
NA
NA
17
15,503,128
G
C
false
missense_variant
823
rs139005045
0.000097
0.012571
15.692
missense_variant
missense_variant
ENSG00000175106
0
ENSG00000259024
0
0
ENSG00000175106
missense_variant
ENSG00000259024
479
ENSG00000223878
3,737
479
ENSG00000259024
missense_variant
NA
NA
17
15,609,751
C
T
false
distal
927
rs55908225
0.00011
0.27663
159.58
intron_variant
CA-CTCF
ENSG00000251537
2,067
ENSG00000241322
11,132
2,067
ENSG00000251537
CA-CTCF
ENSG00000241322
5,942
ENSG00000241322
11,132
5,942
ENSG00000241322
distal
NA
NA
17
15,628,628
C
A
false
missense_variant
828
rs1060903
0.000141
0.24608
130.99
missense_variant
missense_variant
ENSG00000221926
0
ENSG00000221926
67
0
ENSG00000221926
missense_variant
ENSG00000221926
7,514
ENSG00000221926
3,406
3,406
ENSG00000221926
missense_variant
NA
NA
17
15,629,086
G
A
false
missense_variant
812
rs148258149
0.000377
0.005206
15.305
missense_variant
missense_variant
ENSG00000221926
0
ENSG00000221926
0
0
ENSG00000221926
missense_variant
ENSG00000221926
7,056
ENSG00000221926
2,948
2,948
ENSG00000221926
missense_variant
NA
NA
17
15,684,201
C
T
false
5_prime_UTR_variant
893
rs11654376
0.000065
0.013116
14.101
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000221926
0
ENSG00000221926
0
0
ENSG00000221926
5_prime_UTR_variant
ENSG00000221926
97
ENSG00000221926
64
64
ENSG00000221926
5_prime_UTR_variant
NA
NA
17
15,684,249
G
A
false
5_prime_UTR_variant
889
rs563660329
0.000045
0.004663
37.819
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000221926
0
ENSG00000221926
0
0
ENSG00000221926
5_prime_UTR_variant
ENSG00000221926
49
ENSG00000221926
16
16
ENSG00000221926
5_prime_UTR_variant
NA
NA
17
15,697,658
T
G
false
distal
905
rs186440320
0.000043
0.004715
37.243
intergenic_variant
intergenic_variant
ENSG00000187607
1,918
ENSG00000255104
1,893
1,893
ENSG00000255104
intergenic_variant
ENSG00000187607
1,918
ENSG00000255104
1,893
1,893
ENSG00000255104
distal
NA
NA
17
15,998,172
G
A
false
distal
845
rs74503177
0.000228
0.035876
44.833
intron_variant
pELS_flank
ENSG00000214941
1,346
ENSG00000214941
1,330
1,330
ENSG00000214941
pELS_flank
ENSG00000214941
1,416
ENSG00000214941
1,415
1,415
ENSG00000214941
distal
NA
NA
17
16,000,288
C
A
false
missense_variant
824
rs758853
0.003932
0.47219
414.35
missense_variant
missense_variant
ENSG00000011295
42
ENSG00000011295
0
0
ENSG00000011295
missense_variant
ENSG00000011295
463
ENSG00000011295
453
453
ENSG00000011295
missense_variant
NA
NA
17
16,025,571
A
G
false
tss_proximal
904
rs2157992
0.005958
0.46542
421.45
intron_variant
pELS_flank
ENSG00000011295
399
ENSG00000011295
399
399
ENSG00000011295
tss_proximal
ENSG00000011295
418
ENSG00000011295
952
418
ENSG00000011295
tss_proximal
tss_prox:b1
tss_prox:b1
17
16,056,876
A
G
false
tss_proximal
904
rs4791660
0.003807
0.46701
422.17
intron_variant
intron_variant
ENSG00000141027
637
ENSG00000141027
97
97
ENSG00000141027
tss_proximal
ENSG00000141027
846
ENSG00000141027
1,058
846
ENSG00000141027
tss_proximal
tss_prox:b1
tss_prox:b1
17
16,080,029
G
T
false
synonymous_variant
896
rs61753151
0.000191
0.006869
96.247
synonymous_variant
synonymous_variant
ENSG00000141027
0
ENSG00000141027
0
0
ENSG00000141027
synonymous_variant
ENSG00000141027
21
ENSG00000141027
483
21
ENSG00000141027
synonymous_variant
NA
NA
17
16,080,144
G
A
false
tss_proximal
867
rs118072442
0.000092
0.026723
42.802
intron_variant
dELS_flank
ENSG00000141027
79
ENSG00000141027
79
79
ENSG00000141027
tss_proximal
ENSG00000141027
136
ENSG00000141027
368
136
ENSG00000141027
tss_proximal
tss_prox:b1
tss_prox:b0
17
16,140,746
G
A
false
distal
933
rs138285358
0.000144
0.004907
130.44
intron_variant
TF_flank
ENSG00000141027
1,559
ENSG00000141027
1,559
1,559
ENSG00000141027
TF_flank
ENSG00000141027
48,827
ENSG00000199674
2,873
2,873
ENSG00000199674
distal
NA
NA
17
16,141,126
C
T
false
distal
933
rs75011386
0.000147
0.0049
130.56
intron_variant
TF_flank
ENSG00000141027
1,939
ENSG00000141027
1,939
1,939
ENSG00000141027
TF_flank
ENSG00000141027
49,207
ENSG00000199674
3,253
3,253
ENSG00000199674
distal
NA
NA
17
16,193,830
T
C
false
tss_proximal
904
rs178811
0.008362
0.46679
424.34
intron_variant
PLS_flank
ENSG00000141027
631
ENSG00000141027
631
631
ENSG00000141027
tss_proximal
ENSG00000141027
782
ENSG00000141027
780
780
ENSG00000141027
tss_proximal
tss_prox:b1
tss_prox:b1
17
16,215,933
G
C
false
5_prime_UTR_variant
886
rs28372800
0.00013
0.004917
130.34
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000141027
0
ENSG00000141027
384
0
ENSG00000141027
5_prime_UTR_variant
ENSG00000141027
395
ENSG00000141027
384
384
ENSG00000141027
5_prime_UTR_variant
NA
NA
17
16,427,887
G
C
false
tss_proximal
899
rs148397147
0.000447
0.007629
19.844
intron_variant
pELS_flank
ENSG00000187688
339
ENSG00000239203
339
339
ENSG00000187688
tss_proximal
ENSG00000187688
488
ENSG00000239203
412
412
ENSG00000239203
tss_proximal
tss_prox:b1
tss_prox:b1
17
16,445,100
C
T
false
distal
884
rs4327089
0.000179
0.37383
145.02
intron_variant
dELS
ENSG00000181350
968
ENSG00000181350
968
968
ENSG00000181350
dELS
ENSG00000187688
12,861
ENSG00000181350
3,193
3,193
ENSG00000181350
distal
NA
NA