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
54,654,029
T
C
false
missense_variant
94
rs189525766
0.000031
0.019099
22.852
missense_variant
missense_variant
ENSG00000184313
0
ENSG00000271723
0
0
ENSG00000184313
missense_variant
ENSG00000184313
12,206
ENSG00000184313
57
57
ENSG00000184313
missense_variant
NA
NA
1
54,736,972
C
G
false
non_coding_transcript_exon_variant
117
rs7521828
0.000029
0.04929
192.34
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000243725
609
ENSG00000243725
0
0
ENSG00000243725
non_coding_transcript_exon_variant
ENSG00000243725
21,110
ENSG00000243725
282
282
ENSG00000243725
non_coding_transcript_exon_variant
NA
NA
1
54,737,117
G
A
false
non_coding_transcript_exon_variant
117
rs7543886
0.000029
0.04929
192.34
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000243725
464
ENSG00000243725
0
0
ENSG00000243725
non_coding_transcript_exon_variant
ENSG00000243725
21,255
ENSG00000243725
427
427
ENSG00000243725
non_coding_transcript_exon_variant
NA
NA
1
54,752,070
G
A
false
distal
130
rs12031137
0.000025
0.36761
54.831
intergenic_variant
CA
ENSG00000162396
4,827
ENSG00000271723
9,761
4,827
ENSG00000162396
CA
ENSG00000162396
12,452
ENSG00000243725
15,380
12,452
ENSG00000162396
distal
NA
NA
1
54,774,259
A
T
false
distal
162
rs12045167
0.000034
0.1831
48.375
intergenic_variant
intergenic_variant
ENSG00000006555
5,452
ENSG00000006555
7,336
5,452
ENSG00000006555
intergenic_variant
ENSG00000162396
9,735
ENSG00000006555
13,645
9,735
ENSG00000162396
distal
NA
NA
1
54,784,806
C
T
false
missense_variant
93
rs78948067
0.000247
0.14992
88
missense_variant
missense_variant
ENSG00000006555
0
ENSG00000006555
1,176
0
ENSG00000006555
missense_variant
ENSG00000006555
2,985
ENSG00000006555
3,098
2,985
ENSG00000006555
missense_variant
NA
NA
1
54,977,846
C
A
false
non_coding_transcript_exon_variant
120
rs2433672
0.000031
0.22236
80.769
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000143001
2,781
ENSG00000284601
0
0
ENSG00000284601
non_coding_transcript_exon_variant
ENSG00000143001
2,781
ENSG00000284601
2,605
2,605
ENSG00000284601
non_coding_transcript_exon_variant
NA
NA
1
55,039,974
G
T
true
missense_variant
82
rs11591147
1
ApoA,ApoB,CAD,LDLC,TC
0.017642
13.095
missense_variant
missense_variant
ENSG00000169174
0
ENSG00000169174
0
0
ENSG00000169174
missense_variant
ENSG00000169174
320
ENSG00000169174
526
320
ENSG00000169174
missense_variant
NA
NA
1
55,049,808
C
T
false
distal
43
rs7543163
0.000067
0.3853
46.887
intron_variant
dELS
ENSG00000169174
2,469
ENSG00000169174
1,125
1,125
ENSG00000169174
dELS
ENSG00000169174
9,512
ENSG00000169174
1,125
1,125
ENSG00000169174
distal
NA
NA
1
55,053,079
C
T
true
distal
11
rs7552841
1
ApoB
0.37639
39.42
intron_variant
dELS_flank
ENSG00000169174
287
ENSG00000169174
287
287
ENSG00000169174
dELS_flank
ENSG00000169174
12,783
ENSG00000169174
2,144
2,144
ENSG00000169174
distal
NA
NA
1
55,053,501
G
A
true
distal
43
rs499883
1
ApoB
0.38525
89.354
intron_variant
dELS
ENSG00000169174
709
ENSG00000169174
709
709
ENSG00000169174
dELS
ENSG00000169174
13,205
ENSG00000169174
2,566
2,566
ENSG00000169174
distal
NA
NA
1
55,061,650
G
A
false
distal
8
rs630431
0.001302
0.29843
158.09
intron_variant
dELS_flank
ENSG00000169174
93
ENSG00000169174
93
93
ENSG00000169174
dELS_flank
ENSG00000162402
13,848
ENSG00000169174
3,533
3,533
ENSG00000169174
distal
NA
NA
1
55,087,537
A
T
false
distal
39
rs77333170
0.000047
0.036165
105.94
intron_variant
dELS
ENSG00000162402
1,498
ENSG00000162402
1,102
1,102
ENSG00000162402
dELS
ENSG00000162402
12,037
ENSG00000162402
1,102
1,102
ENSG00000162402
distal
NA
NA
1
55,208,131
A
G
false
distal
25
rs2454214
0.001216
0.23553
189.95
intron_variant
dELS_flank
ENSG00000162402
6,658
ENSG00000231090
9,513
6,658
ENSG00000162402
dELS_flank
ENSG00000162402
7,232
ENSG00000231090
9,513
7,232
ENSG00000162402
distal
NA
NA
1
55,208,155
A
G
false
distal
25
rs2454215
0.001211
0.23553
189.95
intron_variant
dELS_flank
ENSG00000162402
6,634
ENSG00000231090
9,489
6,634
ENSG00000162402
dELS_flank
ENSG00000162402
7,208
ENSG00000231090
9,489
7,208
ENSG00000162402
distal
NA
NA
1
55,232,461
C
T
true
distal
44
rs570635280
0.999995
ApoB,LDLC
0.00145
6.8618
intron_variant
dELS
ENSG00000162402
17,096
ENSG00000231090
1,150
1,150
ENSG00000231090
dELS
ENSG00000162402
17,096
ENSG00000265822
6,819
6,819
ENSG00000265822
distal
NA
NA
1
55,233,052
A
C
false
distal
44
rs553533923
0.000038
0.001052
7.844
intron_variant
dELS
ENSG00000162402
17,687
ENSG00000231090
559
559
ENSG00000231090
dELS
ENSG00000162402
17,687
ENSG00000265822
7,410
7,410
ENSG00000265822
distal
NA
NA
1
56,001,323
G
T
false
distal
46
rs11206713
0.000039
0.46857
286.49
intron_variant
dELS
ENSG00000162407
493,437
ENSG00000234810
16,400
16,400
ENSG00000234810
dELS
ENSG00000162407
578,239
ENSG00000233079
56,235
56,235
ENSG00000233079
distal
NA
NA
1
56,002,631
G
A
false
distal
46
rs11206714
0.000083
0.43219
264.04
intron_variant
dELS
ENSG00000162407
492,129
ENSG00000234810
15,092
15,092
ENSG00000234810
dELS
ENSG00000162407
576,931
ENSG00000233079
57,543
57,543
ENSG00000233079
distal
NA
NA
1
56,173,789
G
A
false
non_coding_transcript_exon_variant
123
rs72675574
0.008572
0.19331
228.28
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000162407
320,971
ENSG00000260971
0
0
ENSG00000260971
non_coding_transcript_exon_variant
ENSG00000162407
405,773
ENSG00000260971
12
12
ENSG00000260971
non_coding_transcript_exon_variant
NA
NA
1
56,405,392
C
T
false
distal
23
rs10888969
0.000083
0.45689
75.076
intron_variant
dELS_flank
ENSG00000162407
89,368
ENSG00000284686
5,124
5,124
ENSG00000284686
dELS_flank
ENSG00000162407
174,170
ENSG00000223956
9,525
9,525
ENSG00000223956
distal
NA
NA
1
56,405,627
G
A
false
distal
23
rs12129444
0.000061
0.45686
74.924
intron_variant
dELS_flank
ENSG00000162407
89,133
ENSG00000284686
5,359
5,359
ENSG00000284686
dELS_flank
ENSG00000162407
173,935
ENSG00000223956
9,290
9,290
ENSG00000223956
distal
NA
NA
1
56,405,634
G
A
false
distal
23
rs12129445
0.000063
0.45638
75.145
intron_variant
dELS_flank
ENSG00000162407
89,126
ENSG00000284686
5,366
5,366
ENSG00000284686
dELS_flank
ENSG00000162407
173,928
ENSG00000223956
9,283
9,283
ENSG00000223956
distal
NA
NA
1
56,406,685
C
T
false
distal
23
rs2991265
0.000676
0.46171
49.164
intron_variant
dELS_flank
ENSG00000162407
88,075
ENSG00000284686
6,417
6,417
ENSG00000284686
dELS_flank
ENSG00000162407
172,877
ENSG00000223956
8,232
8,232
ENSG00000223956
distal
NA
NA
1
56,617,713
A
T
false
distal
22
rs372421855
0.000342
0.004028
10.18
intron_variant
dELS_flank
ENSG00000162409
27,600
ENSG00000225475
1,695
1,695
ENSG00000225475
dELS_flank
ENSG00000162409
27,600
ENSG00000225475
1,835
1,835
ENSG00000225475
distal
NA
NA
1
56,744,022
T
C
false
splicing
168
rs1156845
0.000082
0.13616
26.28
splice_donor_region_variant
splice_donor_region_variant
ENSG00000187889
3
ENSG00000187889
3
3
ENSG00000187889
splice_donor_region_variant
ENSG00000187889
75,381
ENSG00000187889
6,374
6,374
ENSG00000187889
splicing
NA
splicing:b0
1
56,819,276
C
G
false
splicing
169
rs372333474
0.000136
0.000213
4.3945
splice_donor_region_variant
splice_donor_region_variant
ENSG00000187889
5
ENSG00000187889
5
5
ENSG00000187889
splice_donor_region_variant
ENSG00000187889
127
ENSG00000187889
419
127
ENSG00000187889
splicing
NA
splicing:b1
1
56,819,284
C
T
false
missense_variant
110
rs566036317
0.000039
0.001627
5.784
missense_variant
missense_variant
ENSG00000187889
0
ENSG00000187889
0
0
ENSG00000187889
missense_variant
ENSG00000187889
119
ENSG00000187889
411
119
ENSG00000187889
missense_variant
NA
NA
1
56,819,948
C
T
false
tss_proximal
142
rs7523601
0.00051
0.27942
36.145
upstream_gene_variant
PLS_flank
ENSG00000187889
543
ENSG00000187889
251
251
ENSG00000187889
tss_proximal
ENSG00000187889
543
ENSG00000187889
251
251
ENSG00000187889
tss_proximal
tss_prox:b1
tss_prox:b1
1
57,644,216
G
A
false
distal
21
rs11801131
0.000028
0.28961
107.2
intron_variant
dELS_flank
ENSG00000173406
220,155
ENSG00000173406
5,375
5,375
ENSG00000173406
dELS_flank
ENSG00000173406
220,155
ENSG00000236888
38,009
38,009
ENSG00000236888
distal
NA
NA
1
57,644,380
T
C
false
distal
21
rs12125360
0.000027
0.28904
106.97
intron_variant
dELS_flank
ENSG00000173406
220,319
ENSG00000173406
5,211
5,211
ENSG00000173406
dELS_flank
ENSG00000173406
220,319
ENSG00000236888
38,173
38,173
ENSG00000236888
distal
NA
NA
1
58,473,962
G
A
false
missense_variant
85
rs12407003
0.000023
0.12433
52.444
missense_variant
missense_variant
ENSG00000162600
0
ENSG00000162600
6,915
0
ENSG00000162600
missense_variant
ENSG00000162600
64,855
ENSG00000162600
32,236
32,236
ENSG00000162600
missense_variant
NA
NA
1
58,545,901
C
A
false
tss_proximal
142
rs905567
0.000999
0.27803
275.38
intron_variant
pELS
ENSG00000162600
733
ENSG00000286918
266
266
ENSG00000286918
tss_proximal
ENSG00000162600
804
ENSG00000286918
266
266
ENSG00000286918
tss_proximal
tss_prox:b1
tss_prox:b1
1
58,577,325
C
T
false
tss_proximal
173
rs61779294
0.00022
0.095985
264.51
upstream_gene_variant
PLS
ENSG00000184292
72
ENSG00000264128
11,392
72
ENSG00000184292
tss_proximal
ENSG00000184292
72
ENSG00000264128
11,392
72
ENSG00000184292
tss_proximal
tss_prox:b0
tss_prox:b0
1
58,682,254
T
C
false
missense_variant
101
rs12139511
0.000267
0.40953
220.69
missense_variant
missense_variant
ENSG00000162601
0
ENSG00000162601
0
0
ENSG00000162601
missense_variant
ENSG00000162601
17,807
ENSG00000162601
357
357
ENSG00000162601
missense_variant
NA
NA
1
58,698,045
C
T
false
distal
145
rs6656503
0.000287
0.41889
218.69
intron_variant
intron_variant
ENSG00000162601
1,939
ENSG00000162601
1,939
1,939
ENSG00000162601
intron_variant
ENSG00000162601
2,016
ENSG00000162601
2,006
2,006
ENSG00000162601
distal
NA
NA
1
58,852,911
C
T
false
distal
152
rs61788403
0.000045
0.10943
61.92
intron_variant
pELS
ENSG00000177606
68,863
ENSG00000231740
1,656
1,656
ENSG00000231740
pELS
ENSG00000177606
68,863
ENSG00000231740
1,656
1,656
ENSG00000231740
distal
NA
NA
1
58,927,284
C
T
false
distal
70
rs76992013
0.000028
0.046727
16.477
intron_variant
dELS
ENSG00000177606
143,236
ENSG00000232453
2,770
2,770
ENSG00000232453
dELS
ENSG00000177606
143,236
ENSG00000232453
2,881
2,881
ENSG00000232453
distal
NA
NA
1
59,128,853
G
A
false
distal
69
rs7532988
0.00007
0.26633
42.988
intron_variant
dELS
ENSG00000172456
167,784
ENSG00000237352
1,790
1,790
ENSG00000237352
dELS
ENSG00000172456
167,784
ENSG00000237352
3,619
3,619
ENSG00000237352
distal
NA
NA
1
59,135,580
C
T
false
distal
69
rs17118843
0.000085
0.26668
43.015
intron_variant
dELS
ENSG00000172456
161,057
ENSG00000224609
2,249
2,249
ENSG00000224609
dELS
ENSG00000172456
161,057
ENSG00000237352
3,106
3,106
ENSG00000237352
distal
NA
NA
1
59,500,817
G
A
false
distal
26
rs10889141
0.000036
0.38501
98.786
intron_variant
dELS
ENSG00000172456
11,493
ENSG00000172456
11,493
11,493
ENSG00000172456
dELS
ENSG00000172456
53,100
ENSG00000172456
11,498
11,498
ENSG00000172456
distal
NA
NA
1
59,640,779
T
G
false
distal
12
rs79815959
0.000043
0.009137
17.355
intron_variant
dELS_flank
ENSG00000172456
500
ENSG00000172456
500
500
ENSG00000172456
dELS_flank
ENSG00000172456
86,860
ENSG00000172456
2,550
2,550
ENSG00000172456
distal
NA
NA
1
59,659,922
T
G
false
tss_proximal
166
rs7542885
0.000035
0.009303
96.888
intron_variant
dELS_flank
ENSG00000172456
296
ENSG00000172456
296
296
ENSG00000172456
tss_proximal
ENSG00000172456
106,003
ENSG00000172456
296
296
ENSG00000172456
tss_proximal
tss_prox:b2
tss_prox:b1
1
59,660,512
A
C
false
tss_proximal
166
rs78037436
0.000034
0.009094
95.361
intron_variant
dELS_flank
ENSG00000172456
218
ENSG00000172456
88
88
ENSG00000172456
tss_proximal
ENSG00000172456
106,593
ENSG00000172456
292
292
ENSG00000172456
tss_proximal
tss_prox:b2
tss_prox:b1
1
59,660,691
A
G
false
tss_proximal
166
rs75862375
0.000034
0.009094
95.361
intron_variant
dELS_flank
ENSG00000172456
397
ENSG00000172456
267
267
ENSG00000172456
tss_proximal
ENSG00000172456
106,772
ENSG00000172456
471
471
ENSG00000172456
tss_proximal
tss_prox:b2
tss_prox:b1
1
59,660,962
G
T
false
tss_proximal
166
rs55909807
0.000088
0.01676
37.21
intron_variant
intron_variant
ENSG00000172456
668
ENSG00000172456
538
538
ENSG00000172456
tss_proximal
ENSG00000172456
107,043
ENSG00000172456
742
742
ENSG00000172456
tss_proximal
tss_prox:b2
tss_prox:b1
1
59,660,988
T
C
false
tss_proximal
166
rs74086291
0.000033
0.009333
96.786
intron_variant
intron_variant
ENSG00000172456
694
ENSG00000172456
564
564
ENSG00000172456
tss_proximal
ENSG00000172456
107,069
ENSG00000172456
768
768
ENSG00000172456
tss_proximal
tss_prox:b2
tss_prox:b1
1
59,757,788
A
G
false
distal
3
rs590704
0.000045
0.2896
31.614
intron_variant
dELS_flank
ENSG00000172456
142
ENSG00000172456
142
142
ENSG00000172456
dELS_flank
ENSG00000134709
56,997
ENSG00000172456
2,115
2,115
ENSG00000172456
distal
NA
NA
1
60,874,389
G
A
false
distal
9
rs554359
0.000115
0.0593
49.367
intron_variant
dELS_flank
ENSG00000162599
8,922
ENSG00000231252
6,379
6,379
ENSG00000231252
dELS_flank
ENSG00000162599
9,129
ENSG00000231252
6,379
6,379
ENSG00000231252
distal
NA
NA
1
61,226,289
G
A
false
distal
47
rs77900620
0.000048
0.006059
6.3876
intron_variant
dELS
ENSG00000162599
8,438
ENSG00000237853
22,655
8,438
ENSG00000162599
dELS
ENSG00000162599
22,765
ENSG00000237853
27,194
22,765
ENSG00000162599
distal
NA
NA
1
61,294,189
C
T
false
distal
35
rs1932004
0.004754
0.4153
53.629
intron_variant
dELS
ENSG00000162599
16,603
ENSG00000162599
16,603
16,603
ENSG00000162599
dELS
ENSG00000162599
19,010
ENSG00000162599
16,882
16,882
ENSG00000162599
distal
NA
NA
1
61,294,992
C
T
false
distal
35
rs2806429
0.002028
0.4252
55.358
intron_variant
dELS
ENSG00000162599
17,406
ENSG00000162599
17,406
17,406
ENSG00000162599
dELS
ENSG00000162599
19,813
ENSG00000162599
17,685
17,685
ENSG00000162599
distal
NA
NA
1
61,328,484
C
T
false
missense_variant
85
rs71641728
0.000332
0.059861
34.075
missense_variant
missense_variant
ENSG00000162599
0
ENSG00000162599
4,027
0
ENSG00000162599
missense_variant
ENSG00000162599
53,305
ENSG00000162599
51,177
51,177
ENSG00000162599
missense_variant
NA
NA
1
61,724,350
C
A
false
missense_variant
102
rs142192673
0.000049
0.012702
7.7106
missense_variant
missense_variant
ENSG00000162604
563
ENSG00000162604
0
0
ENSG00000162604
missense_variant
ENSG00000162604
782
ENSG00000162604
699
699
ENSG00000162604
missense_variant
NA
NA
1
61,791,364
A
C
false
missense_variant
107
rs1286823
0.000045
0.11861
25.481
missense_variant
missense_variant
ENSG00000132849
0
ENSG00000132849
0
0
ENSG00000132849
missense_variant
ENSG00000132849
48,883
ENSG00000132849
14,145
14,145
ENSG00000132849
missense_variant
NA
NA
1
61,816,017
C
G
false
tss_proximal
179
rs76303082
0.000084
0.14607
38.978
intron_variant
pELS_flank
ENSG00000132849
6,927
ENSG00000200575
401
401
ENSG00000200575
tss_proximal
ENSG00000132849
73,536
ENSG00000200575
401
401
ENSG00000200575
tss_proximal
tss_prox:b2
tss_prox:b2
1
62,017,951
A
G
true
splicing
168
rs41313250
1
BFP,BW
0.12045
68.184
splice_donor_region_variant
splice_donor_region_variant
ENSG00000132849
3
ENSG00000132849
3
3
ENSG00000132849
splice_donor_region_variant
ENSG00000132849
65,638
ENSG00000236646
20,890
20,890
ENSG00000236646
splicing
NA
splicing:b0
1
62,026,232
G
A
false
distal
26
rs7537873
0.000184
0.3874
126.75
intron_variant
dELS
ENSG00000132849
8,284
ENSG00000132849
8,284
8,284
ENSG00000132849
dELS
ENSG00000132849
73,919
ENSG00000236646
12,609
12,609
ENSG00000236646
distal
NA
NA
1
62,114,219
G
T
true
missense_variant
83
rs12140153
1
ALT,BFP,BMI,BW,Morning_Person
0.095976
65.813
missense_variant
missense_variant
ENSG00000132849
0
ENSG00000132849
0
0
ENSG00000132849
missense_variant
ENSG00000132849
128
ENSG00000132849
6,654
128
ENSG00000132849
missense_variant
NA
NA
1
62,151,316
C
T
false
distal
171
rs2481673
0.00013
0.36936
152.83
intron_variant
CA-CTCF_flank
ENSG00000132849
2,041
ENSG00000132849
2,041
2,041
ENSG00000132849
CA-CTCF_flank
ENSG00000132849
37,225
ENSG00000132849
30,441
30,441
ENSG00000132849
distal
NA
NA
1
62,152,255
C
T
false
distal
171
rs2481675
0.000281
0.34847
151.19
intron_variant
CA-CTCF_flank
ENSG00000132849
1,102
ENSG00000132849
1,102
1,102
ENSG00000132849
CA-CTCF_flank
ENSG00000132849
38,164
ENSG00000132849
31,380
31,380
ENSG00000132849
distal
NA
NA
1
62,155,417
C
T
false
distal
171
rs2457821
0.000257
0.34868
151.33
intron_variant
CA-CTCF_flank
ENSG00000132849
1,935
ENSG00000132849
1,935
1,935
ENSG00000132849
CA-CTCF_flank
ENSG00000240563
39,431
ENSG00000234204
33,713
33,713
ENSG00000234204
distal
NA
NA
1
62,183,475
C
T
false
distal
9
rs74343325
0.000049
0.061368
143.03
intergenic_variant
dELS_flank
ENSG00000132849
4,799
ENSG00000234204
5,655
4,799
ENSG00000132849
dELS_flank
ENSG00000240563
11,373
ENSG00000234204
5,655
5,655
ENSG00000234204
distal
NA
NA
1
62,207,217
A
G
false
missense_variant
78
rs142530179
0.000058
0.013982
21.286
missense_variant
missense_variant
ENSG00000240563
0
ENSG00000237227
918
0
ENSG00000240563
missense_variant
ENSG00000240563
12,367
ENSG00000237227
1,224
1,224
ENSG00000237227
missense_variant
NA
NA
1
62,540,080
C
A
false
distal
6
rs56115463
0.000161
0.13325
155.53
intron_variant
dELS_flank
ENSG00000116641
187
ENSG00000116641
187
187
ENSG00000116641
dELS_flank
ENSG00000116641
12,680
ENSG00000270549
9,443
9,443
ENSG00000270549
distal
NA
NA
1
62,598,067
T
C
true
splicing
169
rs372257803
1
ApoA,LDLC,TC,TG
0.000779
7.7417
splice_donor_region_variant
splice_donor_region_variant
ENSG00000132855
5
ENSG00000116641
525
5
ENSG00000132855
splice_donor_region_variant
ENSG00000132855
546
ENSG00000132855
2,966
546
ENSG00000132855
splicing
NA
splicing:b1
1
63,261,569
T
G
false
non_coding_transcript_exon_variant
119
rs7554136
0.000118
0.052145
112.41
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000187140
60,997
ENSG00000224209
0
0
ENSG00000224209
non_coding_transcript_exon_variant
ENSG00000187140
60,997
ENSG00000224209
234
234
ENSG00000224209
non_coding_transcript_exon_variant
NA
NA
1
63,261,871
T
C
true
non_coding_transcript_exon_variant
119
rs670318
0.999825
Height
0.04905
26.762
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000187140
60,695
ENSG00000224209
0
0
ENSG00000224209
non_coding_transcript_exon_variant
ENSG00000187140
60,695
ENSG00000224209
66
66
ENSG00000224209
non_coding_transcript_exon_variant
NA
NA
1
63,329,144
A
G
false
distal
151
rs72676118
0.000021
0.10116
44.432
intergenic_variant
pELS
ENSG00000187140
4,015
ENSG00000275836
2,159
2,159
ENSG00000275836
pELS
ENSG00000187140
6,576
ENSG00000275836
2,159
2,159
ENSG00000275836
distal
NA
NA
1
63,453,630
A
G
false
non_coding_transcript_exon_variant
122
rs41285378
0.000077
0.004748
12.728
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000142856
287
ENSG00000142856
0
0
ENSG00000142856
non_coding_transcript_exon_variant
ENSG00000142856
69,563
ENSG00000142856
1,318
1,318
ENSG00000142856
non_coding_transcript_exon_variant
NA
NA
1
63,534,220
T
C
false
splicing
168
rs6657559
0.000168
0.14336
275.66
splice_donor_region_variant
splice_donor_region_variant
ENSG00000203965
3
ENSG00000203965
0
0
ENSG00000203965
splice_donor_region_variant
ENSG00000203965
10,694
ENSG00000203965
86
86
ENSG00000203965
splicing
NA
splicing:b0
1
63,631,761
C
T
false
missense_variant
114
rs1126728
0.002611
0.22841
15.046
missense_variant
missense_variant
ENSG00000079739
0
ENSG00000079739
19,593
0
ENSG00000079739
missense_variant
ENSG00000079739
8,667
ENSG00000079739
19,593
8,667
ENSG00000079739
missense_variant
NA
NA
1
63,636,443
A
G
false
distal
34
rs2269248
0.000187
0.32841
17.878
intron_variant
dELS
ENSG00000079739
54
ENSG00000079739
14,911
54
ENSG00000079739
dELS
ENSG00000079739
13,349
ENSG00000079739
14,911
13,349
ENSG00000079739
distal
NA
NA
1
63,773,053
C
A
false
tss_proximal
138
rs589465
0.000364
0.21635
136.2
upstream_gene_variant
pELS
ENSG00000185483
963
ENSG00000185483
2,236
963
ENSG00000185483
tss_proximal
ENSG00000185483
963
ENSG00000185483
2,236
963
ENSG00000185483
tss_proximal
tss_prox:b1
tss_prox:b1
1
64,223,798
G
A
false
distal
28
rs1541063
0.000402
0.24048
178.5
intron_variant
dELS
ENSG00000177414
2,890
ENSG00000177414
2,890
2,890
ENSG00000177414
dELS
ENSG00000177414
2,933
ENSG00000177414
8,344
2,933
ENSG00000177414
distal
NA
NA
1
64,486,769
C
T
false
distal
17
rs57712220
0.000054
0.009623
22.699
intron_variant
dELS_flank
ENSG00000158966
15,826
ENSG00000158966
19,145
15,826
ENSG00000158966
dELS_flank
ENSG00000158966
15,975
ENSG00000158966
19,145
15,975
ENSG00000158966
distal
NA
NA
1
64,838,205
T
C
true
distal
12
rs79649323
0.979785
Eosino
0.015263
12.981
intron_variant
dELS_flank
ENSG00000162434
100
ENSG00000162434
100
100
ENSG00000162434
dELS_flank
ENSG00000162437
93,109
ENSG00000162434
3,052
3,052
ENSG00000162434
distal
NA
NA
1
64,839,141
G
A
false
distal
12
rs150355017
0.000044
0.01901
26.426
intron_variant
dELS_flank
ENSG00000162434
461
ENSG00000162434
354
354
ENSG00000162434
dELS_flank
ENSG00000162437
94,045
ENSG00000162434
2,116
2,116
ENSG00000162434
distal
NA
NA
1
64,848,529
C
A
true
tss_proximal
166
rs114269697
0.996295
Eosino
0.013542
19.246
intron_variant
dELS_flank
ENSG00000162434
853
ENSG00000162434
364
364
ENSG00000162434
tss_proximal
ENSG00000162437
103,433
ENSG00000162434
364
364
ENSG00000162434
tss_proximal
tss_prox:b2
tss_prox:b1
1
64,867,700
A
T
false
distal
12
rs61784702
0.000061
0.01232
21.032
intron_variant
dELS_flank
ENSG00000162434
491
ENSG00000162434
164
164
ENSG00000162434
dELS_flank
ENSG00000162434
98,583
ENSG00000162434
1,707
1,707
ENSG00000162434
distal
NA
NA
1
64,986,889
A
C
false
tss_proximal
175
rs114037813
0.000537
0.046381
120.45
intron_variant
pELS_flank
ENSG00000162434
2,545
ENSG00000226891
373
373
ENSG00000226891
tss_proximal
ENSG00000162434
19,952
ENSG00000185031
801
801
ENSG00000185031
tss_proximal
tss_prox:b2
tss_prox:b2
1
65,148,471
T
A
false
missense_variant
102
rs17853973
0.000098
0.012752
35.718
missense_variant
missense_variant
ENSG00000162433
0
ENSG00000162433
0
0
ENSG00000162433
missense_variant
ENSG00000162433
267
ENSG00000162433
530
267
ENSG00000162433
missense_variant
NA
NA
1
65,516,705
G
A
true
distal
146
rs35660507
0.998835
Age_at_Menarche
0.024817
31.246
intron_variant
intron_variant
ENSG00000116678
8,983
ENSG00000116678
8,983
8,983
ENSG00000116678
intron_variant
ENSG00000116678
8,983
ENSG00000116678
8,983
8,983
ENSG00000116678
distal
NA
NA
1
65,516,957
G
A
false
distal
146
rs113407624
0.001004
0.024723
55.852
intron_variant
intron_variant
ENSG00000116678
8,731
ENSG00000116678
8,731
8,731
ENSG00000116678
intron_variant
ENSG00000116678
8,731
ENSG00000116678
8,731
8,731
ENSG00000116678
distal
NA
NA
1
65,517,016
A
C
false
distal
146
rs111291360
0.000844
0.02475
55.808
intron_variant
intron_variant
ENSG00000116678
8,672
ENSG00000116678
8,672
8,672
ENSG00000116678
intron_variant
ENSG00000116678
8,672
ENSG00000116678
8,672
8,672
ENSG00000116678
distal
NA
NA
1
65,603,337
G
A
false
distal
170
rs6665672
0.000432
0.17203
297.87
intron_variant
CA-CTCF_flank
ENSG00000116678
1,376
ENSG00000116678
1,376
1,376
ENSG00000116678
CA-CTCF_flank
ENSG00000116678
37,790
ENSG00000116678
16,602
16,602
ENSG00000116678
distal
NA
NA
1
65,604,098
A
G
true
distal
170
rs72683129
0.999535
CRP
0.14951
142.19
intron_variant
CA-CTCF_flank
ENSG00000116678
939
ENSG00000116678
939
939
ENSG00000116678
CA-CTCF_flank
ENSG00000116678
38,551
ENSG00000116678
15,841
15,841
ENSG00000116678
distal
NA
NA
1
66,002,266
T
C
false
distal
146
rs6670419
0.000048
0.024445
84.465
intron_variant
intron_variant
ENSG00000184588
9,123
ENSG00000184588
9,123
9,123
ENSG00000184588
intron_variant
ENSG00000184588
9,843
ENSG00000184588
9,529
9,529
ENSG00000184588
distal
NA
NA
1
66,197,533
C
T
false
distal
5
rs4655824
0.000045
0.059657
78.55
intron_variant
dELS_flank
ENSG00000184588
45,000
ENSG00000184588
49,926
45,000
ENSG00000184588
dELS_flank
ENSG00000184588
45,142
ENSG00000184588
59,831
45,142
ENSG00000184588
distal
NA
NA
1
66,247,513
C
G
false
missense_variant
73
rs75398902
0.000701
0.019629
93.982
missense_variant
missense_variant
ENSG00000184588
0
ENSG00000184588
0
0
ENSG00000184588
missense_variant
ENSG00000184588
10,133
ENSG00000184588
9,851
9,851
ENSG00000184588
missense_variant
NA
NA
1
66,711,711
G
C
false
tss_proximal
182
rs77395636
0.000145
0.011858
25.321
intron_variant
dELS
ENSG00000118473
7,582
ENSG00000118473
473
473
ENSG00000118473
tss_proximal
ENSG00000118473
29,416
ENSG00000118473
473
473
ENSG00000118473
tss_proximal
tss_prox:b2
tss_prox:b2
1
66,751,140
T
A
false
distal
163
rs1280310
0.002709
0.42461
269.18
downstream_gene_variant
pELS_flank
ENSG00000118473
0
ENSG00000152760
1,318
0
ENSG00000118473
pELS_flank
ENSG00000152760
1,318
ENSG00000152760
1,318
1,318
ENSG00000152760
distal
NA
NA
1
66,906,222
A
T
false
tss_proximal
140
rs3008891
0.006144
0.059368
127.05
intron_variant
CA_flank
ENSG00000152763
698
ENSG00000152763
846
698
ENSG00000152763
tss_proximal
ENSG00000152763
793
ENSG00000152763
918
793
ENSG00000152763
tss_proximal
tss_prox:b1
tss_prox:b1
1
66,951,838
T
C
false
distal
30
rs17129539
0.009456
0.057901
133.37
intron_variant
dELS
ENSG00000198160
3,597
ENSG00000198160
5,542
3,597
ENSG00000198160
dELS
ENSG00000198160
21,594
ENSG00000198160
7,072
7,072
ENSG00000198160
distal
NA
NA
1
66,951,872
G
T
false
distal
30
rs7555338
0.000043
0.059553
99.331
intron_variant
dELS
ENSG00000198160
3,631
ENSG00000198160
5,576
3,631
ENSG00000198160
dELS
ENSG00000198160
21,628
ENSG00000198160
7,038
7,038
ENSG00000198160
distal
NA
NA
1
67,095,273
C
T
false
missense_variant
107
rs11208997
0.000817
0.13219
158.67
missense_variant
missense_variant
ENSG00000203963
0
ENSG00000203963
0
0
ENSG00000203963
missense_variant
ENSG00000203963
31,987
ENSG00000252433
7,505
7,505
ENSG00000252433
missense_variant
NA
NA
1
67,114,199
A
C
false
distal
6
rs4655516
0.000567
0.13225
158.71
intron_variant
dELS_flank
ENSG00000203963
1,152
ENSG00000203963
442
442
ENSG00000203963
dELS_flank
ENSG00000203963
13,061
ENSG00000275678
9,756
9,756
ENSG00000275678
distal
NA
NA
1
67,137,700
A
C
false
distal
163
rs6588243
0.00017
0.426
129.95
intron_variant
pELS_flank
ENSG00000162594
1,286
ENSG00000162594
1,206
1,206
ENSG00000162594
pELS_flank
ENSG00000162594
1,286
ENSG00000162594
1,206
1,206
ENSG00000162594
distal
NA
NA
1
67,219,704
T
C
false
missense_variant
107
rs7530511
0.000081
0.12105
89.617
missense_variant
missense_variant
ENSG00000162594
0
ENSG00000162594
0
0
ENSG00000162594
missense_variant
ENSG00000162594
12,087
ENSG00000162594
12,065
12,065
ENSG00000162594
missense_variant
NA
NA
1
67,301,243
A
C
false
distal
4
rs11209042
0.000235
0.33744
56.679
intergenic_variant
dELS_flank
ENSG00000081985
6,120
ENSG00000081985
6,601
6,120
ENSG00000081985
dELS_flank
ENSG00000081985
6,120
ENSG00000081985
6,601
6,120
ENSG00000081985
distal
NA
NA