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
186,132,407
A
G
false
missense_variant
114
rs10911825
0.000077
0.24852
151.21
missense_variant
missense_variant
ENSG00000143341
0
ENSG00000143341
21,418
0
ENSG00000143341
missense_variant
ENSG00000143341
38,979
ENSG00000143341
21,418
21,418
ENSG00000143341
missense_variant
NA
NA
1
186,613,530
A
C
true
distal
161
rs12751255
0.999795
eGFRcys
0.3652
271.38
intergenic_variant
intergenic_variant
ENSG00000073756
58,260
ENSG00000288562
11,169
11,169
ENSG00000288562
intergenic_variant
ENSG00000073756
66,892
ENSG00000288562
11,169
11,169
ENSG00000288562
distal
NA
NA
1
186,839,211
G
T
false
distal
34
rs3820185
0.000031
0.32885
100.52
intron_variant
dELS
ENSG00000116711
10,175
ENSG00000116711
15,074
10,175
ENSG00000116711
dELS
ENSG00000116711
10,261
ENSG00000116711
15,074
10,261
ENSG00000116711
distal
NA
NA
1
187,307,421
A
G
false
non_coding_transcript_exon_variant
123
rs1390496
0.001301
0.264
180.02
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000116711
318,439
ENSG00000230426
0
0
ENSG00000230426
non_coding_transcript_exon_variant
ENSG00000116711
478,471
ENSG00000230426
26
26
ENSG00000230426
non_coding_transcript_exon_variant
NA
NA
1
190,540,222
G
T
false
distal
5
rs72733029
0.000009
0.040969
117.06
intergenic_variant
dELS_flank
ENSG00000162670
62,357
ENSG00000241505
45,924
45,924
ENSG00000241505
dELS_flank
ENSG00000162670
62,357
ENSG00000241505
59,842
59,842
ENSG00000241505
distal
NA
NA
1
191,859,091
A
C
false
non_coding_transcript_exon_variant
123
rs3904981
0.000001
0.25985
253.69
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000150681
299,370
ENSG00000223344
0
0
ENSG00000223344
non_coding_transcript_exon_variant
ENSG00000150681
299,370
ENSG00000223344
7,868
7,868
ENSG00000223344
non_coding_transcript_exon_variant
NA
NA
1
192,127,313
G
A
false
distal
158
rs533685984
0.000001
0.003176
14.079
intergenic_variant
intergenic_variant
ENSG00000150681
31,148
ENSG00000150681
31,171
31,148
ENSG00000150681
intergenic_variant
ENSG00000150681
31,148
ENSG00000150681
31,171
31,148
ENSG00000150681
distal
NA
NA
1
192,578,661
T
C
false
3_prime_UTR_variant
135
rs2760532
0.000003
0.056565
33.88
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000090104
0
ENSG00000090104
275
0
ENSG00000090104
3_prime_UTR_variant
ENSG00000090104
2,887
ENSG00000090104
2,885
2,885
ENSG00000090104
3_prime_UTR_variant
NA
NA
1
192,578,911
C
T
false
3_prime_UTR_variant
135
rs2760533
0.000002
0.056009
34.3
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000090104
0
ENSG00000090104
225
0
ENSG00000090104
3_prime_UTR_variant
ENSG00000090104
3,137
ENSG00000090104
3,135
3,135
ENSG00000090104
3_prime_UTR_variant
NA
NA
1
192,579,413
T
G
false
3_prime_UTR_variant
133
rs1323291
0.000001
0.090052
42.495
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000090104
0
ENSG00000090104
0
0
ENSG00000090104
3_prime_UTR_variant
ENSG00000090104
3,639
ENSG00000090104
3,637
3,637
ENSG00000090104
3_prime_UTR_variant
NA
NA
1
192,579,429
G
C
false
3_prime_UTR_variant
133
rs2816308
0.000001
0.090101
42.524
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000090104
0
ENSG00000090104
0
0
ENSG00000090104
3_prime_UTR_variant
ENSG00000090104
3,655
ENSG00000090104
3,653
3,653
ENSG00000090104
3_prime_UTR_variant
NA
NA
1
193,121,735
C
A
false
tss_proximal
139
rs10737621
0.000091
0.32154
345.1
upstream_gene_variant
PLS_flank
ENSG00000134371
295
ENSG00000134371
247
247
ENSG00000134371
tss_proximal
ENSG00000134371
295
ENSG00000134371
247
247
ENSG00000134371
tss_proximal
tss_prox:b1
tss_prox:b1
1
193,122,854
C
G
false
tss_proximal
139
rs4450000
0.000099
0.32092
345.61
intron_variant
pELS
ENSG00000134371
522
ENSG00000134371
247
247
ENSG00000134371
tss_proximal
ENSG00000134371
673
ENSG00000134371
318
318
ENSG00000134371
tss_proximal
tss_prox:b1
tss_prox:b1
1
193,631,869
G
A
false
distal
14
rs2370438
0.00002
0.30916
208.63
intron_variant
dELS_flank
ENSG00000134371
377,053
ENSG00000227240
41,340
41,340
ENSG00000227240
dELS_flank
ENSG00000162630
445,255
ENSG00000226640
47,024
47,024
ENSG00000226640
distal
NA
NA
1
196,756,501
A
C
false
distal
162
rs188303944
0.000174
0.17346
335.98
intergenic_variant
intergenic_variant
ENSG00000000971
4,024
ENSG00000000971
8,884
4,024
ENSG00000000971
intergenic_variant
ENSG00000116785
18,311
ENSG00000000971
11,749
11,749
ENSG00000000971
distal
NA
NA
1
196,824,327
C
G
false
tss_proximal
177
rs388403
0.000106
0.42008
375.81
intron_variant
intron_variant
ENSG00000244414
1,149
ENSG00000244414
896
896
ENSG00000244414
tss_proximal
ENSG00000244414
4,545
ENSG00000244414
896
896
ENSG00000244414
tss_proximal
tss_prox:b2
tss_prox:b2
1
196,824,448
G
A
false
tss_proximal
177
rs424108
0.000107
0.42004
375.83
intron_variant
intron_variant
ENSG00000244414
1,028
ENSG00000244414
775
775
ENSG00000244414
tss_proximal
ENSG00000244414
4,666
ENSG00000244414
775
775
ENSG00000244414
tss_proximal
tss_prox:b2
tss_prox:b2
1
196,948,498
A
C
false
missense_variant
87
rs141298285
0.000035
0.023928
61.941
missense_variant
missense_variant
ENSG00000080910
0
ENSG00000080910
956
0
ENSG00000080910
missense_variant
ENSG00000080910
1,001
ENSG00000080910
1,692
1,001
ENSG00000080910
missense_variant
NA
NA
1
196,949,608
C
T
false
missense_variant
72
rs144096230
0.000042
0.004707
21.861
missense_variant
missense_variant
ENSG00000080910
0
ENSG00000080910
0
0
ENSG00000080910
missense_variant
ENSG00000080910
2,111
ENSG00000080910
582
582
ENSG00000080910
missense_variant
NA
NA
1
196,959,058
A
G
false
missense_variant
73
rs41310132
0.000161
0.017322
41.662
missense_variant
missense_variant
ENSG00000080910
0
ENSG00000080910
0
0
ENSG00000080910
missense_variant
ENSG00000080910
11,561
ENSG00000080910
8,866
8,866
ENSG00000080910
missense_variant
NA
NA
1
197,177,014
A
C
false
distal
49
rs10429911
0.000068
0.10349
351.84
intron_variant
dELS
ENSG00000177888
343
ENSG00000177888
343
343
ENSG00000177888
dELS
ENSG00000177888
24,278
ENSG00000177888
23,506
23,506
ENSG00000177888
distal
NA
NA
1
197,511,856
C
T
false
missense_variant
85
rs10494755
0.000138
0.10598
162.78
missense_variant
missense_variant
ENSG00000213047
0
ENSG00000213047
0
0
ENSG00000213047
missense_variant
ENSG00000134376
69,685
ENSG00000213047
34,916
34,916
ENSG00000213047
missense_variant
NA
NA
1
197,746,687
G
A
false
tss_proximal
182
rs146350028
0.000133
0.016566
68.82
intron_variant
CA-TF_flank
ENSG00000213047
10,890
ENSG00000233040
63
63
ENSG00000233040
tss_proximal
ENSG00000213047
28,504
ENSG00000233040
763
763
ENSG00000233040
tss_proximal
tss_prox:b2
tss_prox:b2
1
197,955,640
G
A
true
distal
61
rs17583875
0.939775
SHBG
0.021207
50.043
intergenic_variant
dELS
ENSG00000143355
20,161
ENSG00000143355
42,459
20,161
ENSG00000143355
dELS
ENSG00000143355
38,267
ENSG00000143355
43,509
38,267
ENSG00000143355
distal
NA
NA
1
198,467,522
A
G
false
distal
66
rs4463705
0.000113
0.051223
131.34
intron_variant
dELS
ENSG00000151418
55,699
ENSG00000287989
14,766
14,766
ENSG00000287989
dELS
ENSG00000151418
73,151
ENSG00000287989
52,354
52,354
ENSG00000287989
distal
NA
NA
1
198,637,545
C
A
false
tss_proximal
137
rs12141286
0.001682
0.022581
154.43
upstream_gene_variant
pELS_flank
ENSG00000081237
911
ENSG00000081237
1,527
911
ENSG00000081237
tss_proximal
ENSG00000081237
911
ENSG00000081237
1,527
911
ENSG00000081237
tss_proximal
tss_prox:b1
tss_prox:b1
1
198,644,825
T
A
true
distal
62
rs1326269
0.996815
RBC
0.39163
114.3
intron_variant
dELS
ENSG00000081237
5,483
ENSG00000081237
5,483
5,483
ENSG00000081237
dELS
ENSG00000081237
5,662
ENSG00000081237
5,536
5,536
ENSG00000081237
distal
NA
NA
1
198,694,217
G
A
false
3_prime_UTR_variant
134
rs78958674
0.000577
0.066339
50.742
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000081237
0
ENSG00000081237
1,843
0
ENSG00000081237
3_prime_UTR_variant
ENSG00000081237
55,054
ENSG00000081237
2,663
2,663
ENSG00000081237
3_prime_UTR_variant
NA
NA
1
198,694,532
G
A
true
3_prime_UTR_variant
134
rs10494783
1
Lym
0.050921
156.91
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000081237
0
ENSG00000081237
2,158
0
ENSG00000081237
3_prime_UTR_variant
ENSG00000081237
55,369
ENSG00000081237
2,348
2,348
ENSG00000081237
3_prime_UTR_variant
NA
NA
1
198,710,499
T
C
false
non_coding_transcript_exon_variant
122
rs112055243
0.000607
0.011311
44.677
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000081237
674
ENSG00000081237
0
0
ENSG00000081237
non_coding_transcript_exon_variant
ENSG00000081237
71,336
ENSG00000081237
2,229
2,229
ENSG00000081237
non_coding_transcript_exon_variant
NA
NA
1
198,710,886
G
A
true
non_coding_transcript_exon_variant
122
rs12733073
0.99986
Lym,eGFRcys
0.010125
16.938
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000081237
1,061
ENSG00000081237
0
0
ENSG00000081237
non_coding_transcript_exon_variant
ENSG00000081237
71,723
ENSG00000081237
1,842
1,842
ENSG00000081237
non_coding_transcript_exon_variant
NA
NA
1
198,711,104
A
G
false
non_coding_transcript_exon_variant
122
rs12134126
0.00274
0.01687
183.53
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000081237
1,279
ENSG00000081237
0
0
ENSG00000081237
non_coding_transcript_exon_variant
ENSG00000081237
71,941
ENSG00000081237
1,624
1,624
ENSG00000081237
non_coding_transcript_exon_variant
NA
NA
1
198,711,196
C
T
false
non_coding_transcript_exon_variant
122
rs75024743
0.000325
0.013012
29.561
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000081237
1,371
ENSG00000081237
0
0
ENSG00000081237
non_coding_transcript_exon_variant
ENSG00000081237
72,033
ENSG00000081237
1,532
1,532
ENSG00000081237
non_coding_transcript_exon_variant
NA
NA
1
198,711,341
C
T
false
non_coding_transcript_exon_variant
122
rs150905683
0.000197
0.013205
24.712
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000081237
1,516
ENSG00000081237
0
0
ENSG00000081237
non_coding_transcript_exon_variant
ENSG00000081237
72,178
ENSG00000081237
1,387
1,387
ENSG00000081237
non_coding_transcript_exon_variant
NA
NA
1
198,750,089
T
C
false
tss_proximal
166
rs35549117
0.000113
0.015494
42.763
intron_variant
dELS_flank
ENSG00000081237
402
ENSG00000081237
402
402
ENSG00000081237
tss_proximal
ENSG00000081237
110,926
ENSG00000081237
795
795
ENSG00000081237
tss_proximal
tss_prox:b2
tss_prox:b1
1
199,007,363
C
T
false
non_coding_transcript_exon_variant
123
rs12239179
0.009236
0.24558
103.34
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000081237
249,886
ENSG00000233410
0
0
ENSG00000233410
non_coding_transcript_exon_variant
ENSG00000081237
368,200
ENSG00000235492
8,769
8,769
ENSG00000235492
non_coding_transcript_exon_variant
NA
NA
1
199,007,391
A
G
false
non_coding_transcript_exon_variant
123
rs12240178
0.000219
0.34224
187.45
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000081237
249,914
ENSG00000233410
0
0
ENSG00000233410
non_coding_transcript_exon_variant
ENSG00000081237
368,228
ENSG00000235492
8,741
8,741
ENSG00000235492
non_coding_transcript_exon_variant
NA
NA
1
199,041,592
C
T
true
non_coding_transcript_exon_variant
123
rs1434282
0.99969
MCH,MCV,RBC
0.27427
114.65
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000081237
284,115
ENSG00000286541
0
0
ENSG00000286541
non_coding_transcript_exon_variant
ENSG00000081237
402,429
ENSG00000233410
20,554
20,554
ENSG00000233410
non_coding_transcript_exon_variant
NA
NA
1
200,437,599
C
G
false
distal
58
rs562826366
0.000204
0.001782
7.2922
intron_variant
dELS
ENSG00000162702
27,542
ENSG00000230623
6,887
6,887
ENSG00000230623
dELS
ENSG00000162702
27,542
ENSG00000230623
6,887
6,887
ENSG00000230623
distal
NA
NA
1
200,620,703
G
A
false
5_prime_UTR_variant
126
rs2808244
0.000253
0.10601
148.51
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000118193
0
ENSG00000260088
48,803
0
ENSG00000118193
5_prime_UTR_variant
ENSG00000118193
47
ENSG00000260088
48,803
47
ENSG00000118193
5_prime_UTR_variant
NA
NA
1
200,669,534
G
A
false
non_coding_transcript_exon_variant
121
rs11588318
0.001394
0.47139
216.26
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000118197
32
ENSG00000260088
0
0
ENSG00000260088
non_coding_transcript_exon_variant
ENSG00000118197
173
ENSG00000260088
26
26
ENSG00000260088
non_coding_transcript_exon_variant
NA
NA
1
200,789,253
G
A
false
distal
61
rs114130390
0.000543
0.017898
38.876
intron_variant
dELS
ENSG00000118200
18,122
ENSG00000118200
42,854
18,122
ENSG00000118200
dELS
ENSG00000118200
49,473
ENSG00000118200
42,854
42,854
ENSG00000118200
distal
NA
NA
1
200,908,898
A
T
false
missense_variant
94
rs41313912
0.000072
0.014774
15.529
missense_variant
missense_variant
ENSG00000163362
0
ENSG00000163362
0
0
ENSG00000163362
missense_variant
ENSG00000163362
13,997
ENSG00000163362
402
402
ENSG00000163362
missense_variant
NA
NA
1
200,918,529
C
T
false
distal
153
rs296539
0.001325
0.3654
136.58
intron_variant
pELS
ENSG00000163362
2,786
ENSG00000233217
981
981
ENSG00000233217
pELS
ENSG00000163362
23,628
ENSG00000233217
1,068
1,068
ENSG00000233217
distal
NA
NA
1
201,023,573
G
A
false
5_prime_UTR_variant
128
rs185073142
0.000193
0.001651
70.644
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000116852
0
ENSG00000229191
375
0
ENSG00000116852
5_prime_UTR_variant
ENSG00000116852
126
ENSG00000229191
375
126
ENSG00000116852
5_prime_UTR_variant
NA
NA
1
201,047,168
G
A
true
missense_variant
107
rs3850625
1
AST,eGFR,sCr
0.11856
37.309
missense_variant
missense_variant
ENSG00000081248
0
ENSG00000081248
0
0
ENSG00000081248
missense_variant
ENSG00000116852
23,453
ENSG00000234132
12,071
12,071
ENSG00000234132
missense_variant
NA
NA
1
201,089,385
C
T
false
missense_variant
84
rs35534614
0.000251
0.010907
14.73
missense_variant
missense_variant
ENSG00000081248
0
ENSG00000081248
0
0
ENSG00000081248
missense_variant
ENSG00000081248
23,040
ENSG00000081248
23,040
23,040
ENSG00000081248
missense_variant
NA
NA
1
201,090,702
G
A
false
distal
49
rs78298142
0.000129
0.10326
33.865
intron_variant
dELS
ENSG00000081248
937
ENSG00000081248
937
937
ENSG00000081248
dELS
ENSG00000081248
21,723
ENSG00000081248
21,723
21,723
ENSG00000081248
distal
NA
NA
1
201,097,855
T
C
false
distal
15
rs16847724
0.000932
0.1515
32.365
intron_variant
dELS_flank
ENSG00000081248
3,833
ENSG00000081248
3,833
3,833
ENSG00000081248
dELS_flank
ENSG00000081248
14,570
ENSG00000081248
14,570
14,570
ENSG00000081248
distal
NA
NA
1
201,097,883
G
A
false
distal
15
rs17454870
0.00088
0.15056
32.442
intron_variant
dELS_flank
ENSG00000081248
3,861
ENSG00000081248
3,861
3,861
ENSG00000081248
dELS_flank
ENSG00000081248
14,542
ENSG00000081248
14,542
14,542
ENSG00000081248
distal
NA
NA
1
201,098,797
C
T
false
distal
51
rs16847726
0.001805
0.15122
31.93
intron_variant
dELS
ENSG00000081248
4,775
ENSG00000081248
4,775
4,775
ENSG00000081248
dELS
ENSG00000081248
13,628
ENSG00000081248
13,628
13,628
ENSG00000081248
distal
NA
NA
1
201,098,827
C
G
false
distal
51
rs61353098
0.002114
0.1506
31.909
intron_variant
dELS
ENSG00000081248
4,805
ENSG00000081248
4,805
4,805
ENSG00000081248
dELS
ENSG00000081248
13,598
ENSG00000081248
13,598
13,598
ENSG00000081248
distal
NA
NA
1
201,114,802
A
G
false
missense_variant
87
rs2274236
0.000076
0.017717
13.251
missense_variant
missense_variant
ENSG00000232237
0
ENSG00000081248
2,375
0
ENSG00000232237
missense_variant
ENSG00000081248
2,350
ENSG00000081248
2,375
2,350
ENSG00000081248
missense_variant
NA
NA
1
201,184,087
C
A
false
distal
4
rs831761
0.000392
0.34195
62.751
intergenic_variant
dELS_flank
ENSG00000163395
6,736
ENSG00000163395
6,737
6,736
ENSG00000163395
dELS_flank
ENSG00000163395
6,736
ENSG00000163395
6,737
6,736
ENSG00000163395
distal
NA
NA
1
201,311,521
C
A
false
distal
33
rs832152
0.000421
0.21729
122.84
intron_variant
dELS
ENSG00000081277
1,644
ENSG00000081277
4,670
1,644
ENSG00000081277
dELS
ENSG00000081277
27,817
ENSG00000081277
4,670
4,670
ENSG00000081277
distal
NA
NA
1
201,361,301
T
C
false
missense_variant
94
rs3730238
0.000146
0.014358
50.467
missense_variant
missense_variant
ENSG00000118194
0
ENSG00000118194
0
0
ENSG00000118194
missense_variant
ENSG00000118194
11,952
ENSG00000118194
55
55
ENSG00000118194
missense_variant
NA
NA
1
201,372,097
C
T
false
missense_variant
79
rs45582534
0.000116
0.008869
15.656
missense_variant
missense_variant
ENSG00000118194
47
ENSG00000118194
0
0
ENSG00000118194
missense_variant
ENSG00000118194
1,156
ENSG00000118194
1,167
1,156
ENSG00000118194
missense_variant
NA
NA
1
201,414,515
A
C
false
splicing
168
rs2026594
0.00008
0.15577
26.757
splice_donor_region_variant
splice_donor_region_variant
ENSG00000159173
2
ENSG00000282221
13,324
2
ENSG00000159173
splice_donor_region_variant
ENSG00000159173
7,202
ENSG00000227048
14,459
7,202
ENSG00000159173
splicing
NA
splicing:b0
1
201,468,704
C
T
true
missense_variant
108
rs35383942
0.99562
Balding_Type4
0.063122
23.145
missense_variant
missense_variant
ENSG00000174307
0
ENSG00000174307
122
0
ENSG00000174307
missense_variant
ENSG00000174307
483
ENSG00000174307
122
122
ENSG00000174307
missense_variant
NA
NA
1
201,494,095
G
C
false
distal
39
rs668565
0.000143
0.035601
35.04
intron_variant
dELS
ENSG00000159176
2,096
ENSG00000159176
1,193
1,193
ENSG00000159176
dELS
ENSG00000159176
2,477
ENSG00000159176
1,193
1,193
ENSG00000159176
distal
NA
NA
1
201,501,942
C
T
false
distal
155
rs1256925
0.000104
0.06469
72.274
intron_variant
TF
ENSG00000159176
4,681
ENSG00000159176
4,679
4,679
ENSG00000159176
TF
ENSG00000159176
4,896
ENSG00000159176
4,760
4,760
ENSG00000159176
distal
NA
NA
1
201,530,320
A
T
false
non_coding_transcript_exon_variant
118
rs11576996
0.000447
0.4124
123.26
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000134369
8,806
ENSG00000223396
0
0
ENSG00000223396
non_coding_transcript_exon_variant
ENSG00000134369
8,806
ENSG00000223396
10,263
8,806
ENSG00000134369
non_coding_transcript_exon_variant
NA
NA
1
201,739,294
G
A
false
tss_proximal
143
rs12026046
0.000685
0.40997
103.94
intron_variant
pELS
ENSG00000134369
573
ENSG00000134369
22
22
ENSG00000134369
tss_proximal
ENSG00000134369
573
ENSG00000134369
22
22
ENSG00000134369
tss_proximal
tss_prox:b1
tss_prox:b1
1
201,955,597
A
G
false
tss_proximal
172
rs144645970
0.000086
0.018295
14.671
intron_variant
PLS_flank
ENSG00000134375
44
ENSG00000134375
44
44
ENSG00000134375
tss_proximal
ENSG00000134375
93
ENSG00000134375
86
86
ENSG00000134375
tss_proximal
tss_prox:b0
tss_prox:b0
1
202,004,437
G
A
false
missense_variant
88
rs3820439
0.000509
0.27227
79.052
missense_variant
missense_variant
ENSG00000176393
0
ENSG00000176393
0
0
ENSG00000176393
missense_variant
ENSG00000163435
3,507
ENSG00000275207
1,312
1,312
ENSG00000275207
missense_variant
NA
NA
1
202,010,143
G
A
false
5_prime_UTR_variant
125
rs76198885
0.000082
0.011811
18.806
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000163435
0
ENSG00000234678
0
0
ENSG00000163435
5_prime_UTR_variant
ENSG00000163435
443
ENSG00000234678
319
319
ENSG00000234678
5_prime_UTR_variant
NA
NA
1
202,010,327
G
A
true
5_prime_UTR_variant
129
rs3806357
0.99991
eGFR,sCr
0.074218
33.572
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000163435
0
ENSG00000234678
0
0
ENSG00000163435
5_prime_UTR_variant
ENSG00000163435
259
ENSG00000234678
135
135
ENSG00000234678
5_prime_UTR_variant
NA
NA
1
202,042,876
G
A
false
distal
16
rs545285070
0.000273
0.002097
4.6009
intergenic_variant
dELS_flank
ENSG00000163435
25,692
ENSG00000235811
2,941
2,941
ENSG00000235811
dELS_flank
ENSG00000163435
32,231
ENSG00000235811
3,024
3,024
ENSG00000235811
distal
NA
NA
1
202,161,992
G
A
false
tss_proximal
137
rs149105458
0.000141
0.02229
43.406
upstream_gene_variant
PLS_flank
ENSG00000143851
403
ENSG00000143851
1,376
403
ENSG00000143851
tss_proximal
ENSG00000143851
403
ENSG00000143851
1,376
403
ENSG00000143851
tss_proximal
tss_prox:b1
tss_prox:b1
1
202,205,988
A
C
false
distal
57
rs66575408
0.001546
0.13728
53.646
intron_variant
dELS
ENSG00000133067
2,112
ENSG00000133067
2,112
2,112
ENSG00000133067
dELS
ENSG00000133067
2,251
ENSG00000133067
2,210
2,210
ENSG00000133067
distal
NA
NA
1
202,376,861
C
T
false
distal
58
rs142054280
0.00146
0.003033
14.639
intron_variant
dELS
ENSG00000077157
27,718
ENSG00000229120
6,715
6,715
ENSG00000229120
dELS
ENSG00000077157
28,132
ENSG00000229120
6,715
6,715
ENSG00000229120
distal
NA
NA
1
202,376,901
C
A
false
distal
58
rs140380755
0.000109
0.003712
10.607
intron_variant
dELS
ENSG00000077157
27,758
ENSG00000229120
6,755
6,755
ENSG00000229120
dELS
ENSG00000077157
28,172
ENSG00000229120
6,755
6,755
ENSG00000229120
distal
NA
NA
1
202,741,605
C
G
false
missense_variant
99
rs112284833
0.000141
0.033534
44.665
missense_variant
missense_variant
ENSG00000117139
0
ENSG00000117139
0
0
ENSG00000117139
missense_variant
ENSG00000117139
11,889
ENSG00000117139
1,698
1,698
ENSG00000117139
missense_variant
NA
NA
1
202,749,460
T
C
false
distal
55
rs7519619
0.00166
0.14298
122.42
intron_variant
dELS
ENSG00000117139
320
ENSG00000117139
320
320
ENSG00000117139
dELS
ENSG00000117139
5,909
ENSG00000117139
1,241
1,241
ENSG00000117139
distal
NA
NA
1
202,765,130
T
C
false
non_coding_transcript_exon_variant
120
rs7553366
0.001527
0.22565
154.9
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000117139
984
ENSG00000117139
0
0
ENSG00000117139
non_coding_transcript_exon_variant
ENSG00000117139
9,759
ENSG00000117139
2,078
2,078
ENSG00000117139
non_coding_transcript_exon_variant
NA
NA
1
202,807,819
G
A
false
tss_proximal
136
rs577871165
0.000152
0.014542
100.84
intron_variant
pELS
ENSG00000117139
282
ENSG00000117139
143
143
ENSG00000117139
tss_proximal
ENSG00000117139
294
ENSG00000117139
229
229
ENSG00000117139
tss_proximal
tss_prox:b1
tss_prox:b1
1
202,905,602
C
T
false
distal
62
rs6686801
0.000083
0.39102
123.12
intron_variant
dELS
ENSG00000117153
3,407
ENSG00000230280
6,209
3,407
ENSG00000117153
dELS
ENSG00000117153
3,558
ENSG00000230280
6,209
3,558
ENSG00000117153
distal
NA
NA
1
202,905,658
T
C
false
distal
62
rs4950889
0.000092
0.39087
123.1
intron_variant
dELS
ENSG00000117153
3,351
ENSG00000230280
6,153
3,351
ENSG00000117153
dELS
ENSG00000117153
3,502
ENSG00000230280
6,153
3,502
ENSG00000117153
distal
NA
NA
1
203,029,256
T
C
false
distal
67
rs782790
0.000525
0.4387
42.748
intron_variant
dELS
ENSG00000143847
2,626
ENSG00000143847
2,626
2,626
ENSG00000143847
dELS
ENSG00000143847
2,757
ENSG00000143847
2,764
2,757
ENSG00000143847
distal
NA
NA
1
203,069,381
G
A
false
distal
11
rs1874143
0.000196
0.37357
60.613
intron_variant
dELS_flank
ENSG00000143847
752
ENSG00000143847
752
752
ENSG00000143847
dELS_flank
ENSG00000143847
15,634
ENSG00000143847
1,935
1,935
ENSG00000143847
distal
NA
NA
1
203,207,759
C
A
false
distal
42
rs2494303
0.00112
0.20423
42.403
intergenic_variant
dELS
ENSG00000133063
8,319
ENSG00000133063
5,067
5,067
ENSG00000133063
dELS
ENSG00000133048
21,054
ENSG00000133063
10,261
10,261
ENSG00000133063
distal
NA
NA
1
203,259,480
C
T
false
distal
22
rs577325718
0.000066
0.004332
6.1331
intron_variant
dELS_flank
ENSG00000133063
29,806
ENSG00000133063
1,321
1,321
ENSG00000133063
dELS_flank
ENSG00000133063
29,806
ENSG00000133063
1,381
1,381
ENSG00000133063
distal
NA
NA
1
203,277,832
A
G
false
distal
16
rs540285946
0.000259
0.002349
4.9017
intron_variant
dELS_flank
ENSG00000159388
27,686
ENSG00000231507
3,016
3,016
ENSG00000231507
dELS_flank
ENSG00000159388
27,686
ENSG00000231507
3,655
3,655
ENSG00000231507
distal
NA
NA
1
203,307,870
C
G
false
3_prime_UTR_variant
135
rs12063729
0.001172
0.05045
38
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000159388
0
ENSG00000159388
181
0
ENSG00000159388
3_prime_UTR_variant
ENSG00000159388
2,350
ENSG00000159388
2,378
2,350
ENSG00000159388
3_prime_UTR_variant
NA
NA
1
203,307,925
G
A
false
3_prime_UTR_variant
135
rs12085417
0.001173
0.050451
38
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000159388
0
ENSG00000159388
236
0
ENSG00000159388
3_prime_UTR_variant
ENSG00000159388
2,405
ENSG00000159388
2,433
2,405
ENSG00000159388
3_prime_UTR_variant
NA
NA
1
203,312,047
G
C
true
distal
63
rs17534202
1
MCH,MCV,RBC
0.46446
45.369
intergenic_variant
dELS
ENSG00000159388
2,444
ENSG00000159388
2,477
2,444
ENSG00000159388
dELS
ENSG00000159388
6,527
ENSG00000159388
6,555
6,527
ENSG00000159388
distal
NA
NA
1
203,332,667
C
T
true
distal
162
rs6671900
0.993595
MCHC
0.17392
17.693
intergenic_variant
intergenic_variant
ENSG00000122176
7,960
ENSG00000122176
8,669
7,960
ENSG00000122176
intergenic_variant
ENSG00000122176
18,454
ENSG00000202300
13,567
13,567
ENSG00000202300
distal
NA
NA
1
203,629,093
C
G
false
distal
29
rs4951273
0.003171
0.27733
44.139
intron_variant
dELS
ENSG00000058668
1,873
ENSG00000236035
27,875
1,873
ENSG00000058668
dELS
ENSG00000058668
2,260
ENSG00000236035
28,666
2,260
ENSG00000058668
distal
NA
NA
1
203,674,145
A
G
false
distal
34
rs12118835
0.000259
0.3307
21.202
intron_variant
dELS
ENSG00000058668
8,596
ENSG00000236035
16,384
8,596
ENSG00000058668
dELS
ENSG00000058668
8,663
ENSG00000236035
16,384
8,663
ENSG00000058668
distal
NA
NA
1
203,768,908
C
T
false
tss_proximal
181
rs67072942
0.000338
0.18354
138.88
intron_variant
dELS
ENSG00000122188
1,919
ENSG00000122188
729
729
ENSG00000122188
tss_proximal
ENSG00000122188
3,724
ENSG00000122188
729
729
ENSG00000122188
tss_proximal
tss_prox:b2
tss_prox:b2
1
203,870,145
C
T
false
3_prime_UTR_variant
132
rs2298870
0.000068
0.22988
176.85
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000182004
0
ENSG00000182004
60
0
ENSG00000182004
3_prime_UTR_variant
ENSG00000182004
6,519
ENSG00000236430
4,041
4,041
ENSG00000236430
3_prime_UTR_variant
NA
NA
1
203,996,272
C
T
true
tss_proximal
180
rs78448052
0.98923
Balding_Type4
0.031201
25.864
upstream_gene_variant
pELS
ENSG00000143842
76,842
ENSG00000286383
259
259
ENSG00000286383
tss_proximal
ENSG00000143842
76,842
ENSG00000286383
259
259
ENSG00000286383
tss_proximal
tss_prox:b2
tss_prox:b2
1
203,997,427
G
A
false
tss_proximal
180
rs72747828
0.000978
0.036251
25.871
intron_variant
pELS
ENSG00000143842
75,687
ENSG00000286383
584
584
ENSG00000286383
tss_proximal
ENSG00000143842
75,687
ENSG00000286383
646
646
ENSG00000286383
tss_proximal
tss_prox:b2
tss_prox:b2
1
204,113,195
C
T
false
tss_proximal
190
rs760312
0.002008
0.46632
41.541
intron_variant
pELS
ENSG00000143842
60
ENSG00000143842
60
60
ENSG00000143842
tss_proximal
ENSG00000143842
278
ENSG00000143842
2,869
278
ENSG00000143842
tss_proximal
tss_prox:b1
tss_prox:b0
1
204,141,053
T
C
false
5_prime_UTR_variant
128
rs372473238
0.00005
0.001417
4.53
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000143845
0
ENSG00000143845
261
0
ENSG00000143845
5_prime_UTR_variant
ENSG00000143845
208
ENSG00000230550
350
208
ENSG00000143845
5_prime_UTR_variant
NA
NA
1
204,147,111
T
C
false
tss_proximal
136
rs72747898
0.000067
0.015322
13.607
intron_variant
dELS
ENSG00000143845
150
ENSG00000143845
120
120
ENSG00000143845
tss_proximal
ENSG00000143845
150
ENSG00000143845
120
120
ENSG00000143845
tss_proximal
tss_prox:b1
tss_prox:b1
1
204,198,270
C
T
false
3_prime_UTR_variant
133
rs72749749
0.00024
0.095061
51.912
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000174567
0
ENSG00000174567
671
0
ENSG00000174567
3_prime_UTR_variant
ENSG00000170498
1,778
ENSG00000174567
3,430
1,778
ENSG00000170498
3_prime_UTR_variant
NA
NA
1
204,198,339
T
C
true
3_prime_UTR_variant
135
rs11576112
0.987035
SHBG
0.05158
18.276
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000174567
0
ENSG00000174567
602
0
ENSG00000174567
3_prime_UTR_variant
ENSG00000170498
1,847
ENSG00000174567
3,361
1,847
ENSG00000170498
3_prime_UTR_variant
NA
NA
1
204,198,814
A
G
false
distal
55
rs67875197
0.001392
0.14369
56.841
intron_variant
dELS
ENSG00000174567
317
ENSG00000174567
127
127
ENSG00000174567
dELS
ENSG00000170498
2,322
ENSG00000174567
2,886
2,322
ENSG00000170498
distal
NA
NA
1
204,411,276
C
T
false
missense_variant
104
rs149785262
0.000139
0.0036
13.945
missense_variant
missense_variant
ENSG00000158615
0
ENSG00000158615
0
0
ENSG00000158615
missense_variant
ENSG00000158615
313
ENSG00000288934
88
88
ENSG00000288934
missense_variant
NA
NA