Datasets:
marin-dna
/
evals_complex_traits

Dataset card Data Studio Files
xet
 Community
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
19
1,039,627
C
T
false
tss_proximal
984
rs3795066
0.000046
0.36254
48.201
upstream_gene_variant
pELS
ENSG00000064687
479
ENSG00000064687
369
369
ENSG00000064687
tss_proximal
ENSG00000064687
479
ENSG00000064687
369
369
ENSG00000064687
tss_proximal
tss_prox:b1
tss_prox:b1
19
1,040,309
G
A
false
tss_proximal
991
rs554559522
0.000204
0.003626
6.5799
intron_variant
pELS
ENSG00000064687
112
ENSG00000064687
112
112
ENSG00000064687
tss_proximal
ENSG00000064687
188
ENSG00000064687
190
188
ENSG00000064687
tss_proximal
tss_prox:b1
tss_prox:b1
19
1,044,754
T
C
false
tss_proximal
1,094
rs3764648
0.000049
0.31429
48.827
intron_variant
dELS
ENSG00000064687
9
ENSG00000064687
9
9
ENSG00000064687
tss_proximal
ENSG00000064687
3,551
ENSG00000064687
777
777
ENSG00000064687
tss_proximal
tss_prox:b2
tss_prox:b0
19
1,047,162
A
G
false
synonymous_variant
1,057
rs3752237
0.000213
0.3929
46.766
synonymous_variant
synonymous_variant
ENSG00000064687
0
ENSG00000064687
0
0
ENSG00000064687
synonymous_variant
ENSG00000064687
5,959
ENSG00000064687
1,629
1,629
ENSG00000064687
synonymous_variant
NA
NA
19
1,049,481
A
T
false
tss_proximal
1,093
rs75864702
0.000295
0.47184
42.628
intron_variant
CA-CTCF_flank
ENSG00000064687
43
ENSG00000064687
43
43
ENSG00000064687
tss_proximal
ENSG00000064687
7,452
ENSG00000064687
65
65
ENSG00000064687
tss_proximal
tss_prox:b2
tss_prox:b0
19
1,050,596
A
G
false
distal
1,038
rs10414675
0.000078
0.33383
55.673
intron_variant
dELS_flank
ENSG00000064687
324
ENSG00000064687
324
324
ENSG00000064687
dELS_flank
ENSG00000064687
6,337
ENSG00000064687
1,180
1,180
ENSG00000064687
distal
NA
NA
19
1,054,061
A
G
false
synonymous_variant
1,058
rs3752243
0.001765
0.42739
60.129
synonymous_variant
synonymous_variant
ENSG00000064687
0
ENSG00000064687
0
0
ENSG00000064687
synonymous_variant
ENSG00000064687
2,872
ENSG00000064687
14
14
ENSG00000064687
synonymous_variant
NA
NA
19
1,079,960
G
A
true
missense_variant
1,000
rs36084354
0.93211
Eosino
0.092734
38.505
missense_variant
missense_variant
ENSG00000180448
0
ENSG00000180448
0
0
ENSG00000180448
missense_variant
ENSG00000180448
2,472
ENSG00000180448
1,454
1,454
ENSG00000180448
missense_variant
NA
NA
19
1,080,190
G
C
true
distal
1,038
rs2074453
0.99924
Plt
0.32811
58.074
intron_variant
dELS_flank
ENSG00000180448
64
ENSG00000180448
64
64
ENSG00000180448
dELS_flank
ENSG00000180448
2,702
ENSG00000180448
1,224
1,224
ENSG00000180448
distal
NA
NA
19
1,085,967
A
G
true
synonymous_variant
1,057
rs3761028
0.99473
WBC
0.38655
40.5
synonymous_variant
synonymous_variant
ENSG00000180448
0
ENSG00000180448
0
0
ENSG00000180448
synonymous_variant
ENSG00000180448
8,479
ENSG00000180448
3,027
3,027
ENSG00000180448
synonymous_variant
NA
NA
19
1,099,070
G
A
false
distal
1,056
rs4806970
0.001251
0.22378
38.932
intergenic_variant
dELS_flank
ENSG00000099817
3,689
ENSG00000099817
3,694
3,689
ENSG00000099817
dELS_flank
ENSG00000099817
3,689
ENSG00000099817
3,694
3,689
ENSG00000099817
distal
NA
NA
19
1,106,616
T
C
false
missense_variant
1,003
rs713041
0.000512
0.44611
61.683
missense_variant
missense_variant
ENSG00000167468
0
ENSG00000167468
0
0
ENSG00000167468
missense_variant
ENSG00000167468
1,463
ENSG00000167468
1,161
1,161
ENSG00000167468
missense_variant
NA
NA
19
1,107,336
A
G
false
distal
1,067
rs2075711
0.00047
0.49601
73.587
downstream_gene_variant
dELS
ENSG00000064932
300
ENSG00000167468
544
300
ENSG00000064932
dELS
ENSG00000167468
2,183
ENSG00000167468
1,881
1,881
ENSG00000167468
distal
NA
NA
19
1,118,697
C
T
false
distal
1,048
rs3826960
0.000351
0.49544
73.595
intron_variant
dELS_flank
ENSG00000064932
313
ENSG00000064932
313
313
ENSG00000064932
dELS_flank
ENSG00000064932
13,523
ENSG00000064932
1,430
1,430
ENSG00000064932
distal
NA
NA
19
1,132,638
A
G
true
tss_proximal
985
rs879983
0.98449
AG,TP
0.23745
55.416
intron_variant
pELS
ENSG00000064932
416
ENSG00000064932
416
416
ENSG00000064932
tss_proximal
ENSG00000064932
416
ENSG00000064932
416
416
ENSG00000064932
tss_proximal
tss_prox:b1
tss_prox:b1
19
1,141,715
G
A
false
distal
1,128
rs34118004
0.001249
0.21439
35.516
intron_variant
intron_variant
ENSG00000064932
5,593
ENSG00000064932
9,493
5,593
ENSG00000064932
intron_variant
ENSG00000064932
9,493
ENSG00000064932
9,493
9,493
ENSG00000064932
distal
NA
NA
19
1,162,931
C
T
true
tss_proximal
1,064
rs7253860
0.979145
Plt
0.39716
57.559
intron_variant
dELS_flank
ENSG00000064932
5,762
ENSG00000290166
519
519
ENSG00000290166
tss_proximal
ENSG00000064932
6,214
ENSG00000290166
519
519
ENSG00000290166
tss_proximal
tss_prox:b2
tss_prox:b2
19
1,170,824
T
C
true
distal
1,066
rs2082498
0.982275
ALP
0.28805
54.803
intron_variant
dELS
ENSG00000064932
1,677
ENSG00000290166
5,490
1,677
ENSG00000064932
dELS
ENSG00000064932
1,677
ENSG00000290166
7,372
1,677
ENSG00000064932
distal
NA
NA
19
1,187,549
A
G
false
distal
1,055
rs35504349
0.000067
0.31578
32.339
intron_variant
dELS_flank
ENSG00000118046
1,859
ENSG00000267736
15,659
1,859
ENSG00000118046
dELS_flank
ENSG00000118046
9,990
ENSG00000267736
15,659
9,990
ENSG00000118046
distal
NA
NA
19
1,188,830
A
G
false
distal
1,055
rs12461320
0.000133
0.30568
29.91
intron_variant
dELS_flank
ENSG00000118046
578
ENSG00000267736
14,378
578
ENSG00000118046
dELS_flank
ENSG00000118046
11,271
ENSG00000267736
14,378
11,271
ENSG00000118046
distal
NA
NA
19
1,230,346
T
A
false
3_prime_UTR_variant
1,109
rs78681901
0.000252
0.037868
33.367
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000099625
0
ENSG00000099625
203
0
ENSG00000099625
3_prime_UTR_variant
ENSG00000118046
7,197
ENSG00000099625
4,738
4,738
ENSG00000099625
3_prime_UTR_variant
NA
NA
19
1,244,901
A
G
true
tss_proximal
1,093
rs1076230
0.97561
RBC
0.46841
36.124
downstream_gene_variant
dELS
ENSG00000099624
75
ENSG00000099624
75
75
ENSG00000099624
tss_proximal
ENSG00000099624
2,395
ENSG00000099624
842
842
ENSG00000099624
tss_proximal
tss_prox:b2
tss_prox:b0
19
1,349,490
C
T
false
distal
1,080
rs141802325
0.002391
0.01566
32.26
intergenic_variant
dELS
ENSG00000160953
5,220
ENSG00000160953
5,431
5,220
ENSG00000160953
dELS
ENSG00000160953
5,220
ENSG00000160953
5,431
5,220
ENSG00000160953
distal
NA
NA
19
1,364,307
A
G
false
distal
1,067
rs17673260
0.002096
0.49906
52.356
intron_variant
dELS
ENSG00000160953
201
ENSG00000160953
201
201
ENSG00000160953
dELS
ENSG00000160953
7,916
ENSG00000160953
2,410
2,410
ENSG00000160953
distal
NA
NA
19
1,366,546
G
A
false
distal
1,067
rs2240241
0.002654
0.49607
52.601
intron_variant
dELS
ENSG00000160953
164
ENSG00000160953
164
164
ENSG00000160953
dELS
ENSG00000160953
10,155
ENSG00000160953
2,557
2,557
ENSG00000160953
distal
NA
NA
19
1,416,904
G
A
false
non_coding_transcript_exon_variant
981
rs75231235
0.000425
0.042639
50.319
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000071626
595
ENSG00000071626
0
0
ENSG00000071626
non_coding_transcript_exon_variant
ENSG00000071626
9,168
ENSG00000071626
933
933
ENSG00000071626
non_coding_transcript_exon_variant
NA
NA
19
1,435,772
G
A
true
distal
1,067
rs3760994
0.99855
Hb,Ht,RBC,UA
0.4973
37.371
downstream_gene_variant
dELS
ENSG00000071626
84
ENSG00000071626
84
84
ENSG00000071626
dELS
ENSG00000115268
2,585
ENSG00000115268
2,647
2,585
ENSG00000115268
distal
NA
NA
19
1,451,668
C
T
false
5_prime_UTR_variant
1,099
rs148177387
0.002859
0.020766
8.1556
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000115266
0
ENSG00000115266
1,315
0
ENSG00000115266
5_prime_UTR_variant
ENSG00000115266
378
ENSG00000115266
1,372
378
ENSG00000115266
5_prime_UTR_variant
NA
NA
19
1,452,249
G
A
false
5_prime_UTR_variant
1,100
rs117229743
0.00002
0.088636
12.371
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000115266
0
ENSG00000115266
734
0
ENSG00000115266
5_prime_UTR_variant
ENSG00000115266
50
ENSG00000115266
1,953
50
ENSG00000115266
5_prime_UTR_variant
NA
NA
19
1,456,545
A
G
false
distal
1,076
rs2656869
0.000805
0.43151
36.268
intron_variant
dELS
ENSG00000115266
140
ENSG00000115266
140
140
ENSG00000115266
dELS
ENSG00000115266
3,744
ENSG00000267317
2,034
2,034
ENSG00000267317
distal
NA
NA
19
1,456,596
G
C
false
distal
1,076
rs3896894
0.000604
0.4352
36.967
intron_variant
dELS
ENSG00000115266
191
ENSG00000115266
191
191
ENSG00000115266
dELS
ENSG00000115266
3,795
ENSG00000267317
1,983
1,983
ENSG00000267317
distal
NA
NA
19
1,473,830
C
G
false
3_prime_UTR_variant
1,107
rs45468999
0.000107
0.0426
8.1921
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000119559
0
ENSG00000119559
341
0
ENSG00000119559
3_prime_UTR_variant
ENSG00000119559
5,066
ENSG00000119559
2,654
2,654
ENSG00000119559
3_prime_UTR_variant
NA
NA
19
1,489,818
C
T
false
missense_variant
1,006
rs12972390
0.000425
0.036772
9.9289
missense_variant
missense_variant
ENSG00000115257
0
ENSG00000115257
0
0
ENSG00000115257
missense_variant
ENSG00000115257
531
ENSG00000115257
365
365
ENSG00000115257
missense_variant
NA
NA
19
1,490,378
T
G
false
non_coding_transcript_exon_variant
978
rs791469
0.000151
0.39846
42.701
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000115257
0
ENSG00000115257
0
0
ENSG00000115257
non_coding_transcript_exon_variant
ENSG00000115257
0
ENSG00000115257
26
0
ENSG00000115257
non_coding_transcript_exon_variant
NA
NA
19
1,520,353
C
T
false
distal
1,092
rs72987519
0.000087
0.073388
28.971
intron_variant
dELS
ENSG00000185988
1,916
ENSG00000185988
6,105
1,916
ENSG00000185988
dELS
ENSG00000185988
3,723
ENSG00000185988
6,105
3,723
ENSG00000185988
distal
NA
NA
19
1,520,679
A
G
false
distal
1,092
rs2458123
0.000084
0.073538
28.963
intron_variant
dELS
ENSG00000185988
2,242
ENSG00000185988
5,779
2,242
ENSG00000185988
dELS
ENSG00000185988
3,397
ENSG00000185988
5,779
3,397
ENSG00000185988
distal
NA
NA
19
1,526,471
G
A
false
splicing
1,131
rs2292453
0.000147
0.24092
46.312
splice_polypyrimidine_tract_variant
splice_polypyrimidine_tract_variant
ENSG00000185988
14
ENSG00000185988
0
0
ENSG00000185988
splice_polypyrimidine_tract_variant
ENSG00000185988
1,119
ENSG00000185988
11
11
ENSG00000185988
splicing
NA
splicing:b1
19
1,528,366
C
T
false
missense_variant
1,017
rs116095010
0.000127
0.024513
15.048
missense_variant
missense_variant
ENSG00000185988
0
ENSG00000185988
0
0
ENSG00000185988
missense_variant
ENSG00000185988
27
ENSG00000185988
2
2
ENSG00000185988
missense_variant
NA
NA
19
1,611,857
G
A
false
splicing
1,132
rs62130064
0.000156
0.21315
38.121
splice_polypyrimidine_tract_variant
splice_polypyrimidine_tract_variant
ENSG00000071564
7
ENSG00000071564
7
7
ENSG00000071564
splice_polypyrimidine_tract_variant
ENSG00000071564
3,940
ENSG00000071564
3,940
3,940
ENSG00000071564
splicing
NA
splicing:b1
19
1,621,280
G
A
false
tss_proximal
1,102
rs192455463
0.002951
0.005997
8.8946
intron_variant
dELS
ENSG00000071564
88
ENSG00000071564
73
73
ENSG00000071564
tss_proximal
ENSG00000071564
233
ENSG00000071564
73
73
ENSG00000071564
tss_proximal
tss_prox:b1
tss_prox:b0
19
1,624,008
A
G
false
splicing
1,131
rs55677929
0.001123
0.22343
32.812
splice_polypyrimidine_tract_variant
splice_polypyrimidine_tract_variant
ENSG00000071564
7
ENSG00000071564
1,771
7
ENSG00000071564
splice_polypyrimidine_tract_variant
ENSG00000071564
2,961
ENSG00000071564
1,771
1,771
ENSG00000071564
splicing
NA
splicing:b1
19
1,791,533
G
A
true
tss_proximal
1,095
rs146799936
0.999845
MCH,MCV
0.007806
4.0897
intron_variant
dELS_flank
ENSG00000130270
216
ENSG00000130270
216
216
ENSG00000130270
tss_proximal
ENSG00000130270
20,666
ENSG00000130270
715
715
ENSG00000130270
tss_proximal
tss_prox:b2
tss_prox:b1
19
1,808,601
A
G
false
distal
1,076
rs35635861
0.000871
0.43687
83.487
intron_variant
dELS
ENSG00000130270
265
ENSG00000130270
265
265
ENSG00000130270
dELS
ENSG00000130270
3,598
ENSG00000130270
2,440
2,440
ENSG00000130270
distal
NA
NA
19
1,842,648
A
G
false
distal
1,090
rs61328803
0.000416
0.24307
84.405
intron_variant
dELS
ENSG00000079313
5,553
ENSG00000079313
5,553
5,553
ENSG00000079313
dELS
ENSG00000079313
5,834
ENSG00000079313
5,797
5,797
ENSG00000079313
distal
NA
NA
19
1,863,386
C
T
false
missense_variant
1,021
rs559304268
0.000089
0.015562
28.911
missense_variant
missense_variant
ENSG00000129911
0
ENSG00000129911
0
0
ENSG00000129911
missense_variant
ENSG00000129911
110
ENSG00000129911
110
110
ENSG00000129911
missense_variant
NA
NA
19
1,928,941
C
T
false
distal
1,046
rs139609787
0.000249
0.043806
32.401
intergenic_variant
dELS_flank
ENSG00000227500
2,927
ENSG00000227500
2,935
2,927
ENSG00000227500
dELS_flank
ENSG00000133275
12,230
ENSG00000227500
6,827
6,827
ENSG00000227500
distal
NA
NA
19
1,961,007
G
T
false
distal
1,092
rs3944087
0.001169
0.069855
36.899
intron_variant
dELS
ENSG00000133275
1,703
ENSG00000133275
6,291
1,703
ENSG00000133275
dELS
ENSG00000133275
6,373
ENSG00000133275
6,385
6,373
ENSG00000133275
distal
NA
NA
19
1,978,398
G
C
false
missense_variant
1,005
rs2277736
0.000067
0.019555
29.916
missense_variant
missense_variant
ENSG00000133275
0
ENSG00000133275
76
0
ENSG00000133275
missense_variant
ENSG00000133275
54
ENSG00000133275
76
54
ENSG00000133275
missense_variant
NA
NA
19
1,978,928
G
T
false
missense_variant
1,008
rs144771760
0.004767
0.007626
9.6158
missense_variant
missense_variant
ENSG00000133275
0
ENSG00000133275
0
0
ENSG00000133275
missense_variant
ENSG00000133275
329
ENSG00000133275
5
5
ENSG00000133275
missense_variant
NA
NA
19
1,979,387
C
T
false
synonymous_variant
1,059
rs11550450
0.000163
0.091658
61.014
synonymous_variant
synonymous_variant
ENSG00000133275
0
ENSG00000133275
0
0
ENSG00000133275
synonymous_variant
ENSG00000133275
128
ENSG00000133275
182
128
ENSG00000133275
synonymous_variant
NA
NA
19
1,979,812
A
G
false
missense_variant
1,020
rs148408595
0.000153
0.013385
67.151
missense_variant
missense_variant
ENSG00000133275
0
ENSG00000133275
0
0
ENSG00000133275
missense_variant
ENSG00000133275
553
ENSG00000133275
607
553
ENSG00000133275
missense_variant
NA
NA
19
1,992,519
C
A
true
distal
1,039
rs143747543
1
MCH,MCV
0.072623
29.738
intron_variant
dELS_flank
ENSG00000133243
462
ENSG00000133243
499
462
ENSG00000133243
dELS_flank
ENSG00000133243
2,372
ENSG00000133243
1,218
1,218
ENSG00000133243
distal
NA
NA
19
2,041,639
G
A
false
tss_proximal
991
rs535548626
0.000106
0.00362
5.4225
intron_variant
pELS
ENSG00000099875
200
ENSG00000099875
200
200
ENSG00000099875
tss_proximal
ENSG00000099875
442
ENSG00000099875
202
202
ENSG00000099875
tss_proximal
tss_prox:b1
tss_prox:b1
19
2,060,353
C
T
false
distal
1,051
rs116981616
0.000147
0.026254
21.105
intergenic_variant
dELS_flank
ENSG00000099875
9,108
ENSG00000099875
9,499
9,108
ENSG00000099875
dELS_flank
ENSG00000099875
9,108
ENSG00000099875
9,499
9,108
ENSG00000099875
distal
NA
NA
19
2,124,223
A
G
false
non_coding_transcript_exon_variant
981
rs76176310
0.002924
0.044748
93.708
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000065000
343
ENSG00000065000
0
0
ENSG00000065000
non_coding_transcript_exon_variant
ENSG00000065000
12,893
ENSG00000065000
164
164
ENSG00000065000
non_coding_transcript_exon_variant
NA
NA
19
2,127,832
C
T
false
distal
1,082
rs118001629
0.00029
0.016704
11.868
intron_variant
dELS
ENSG00000065000
630
ENSG00000065000
630
630
ENSG00000065000
dELS
ENSG00000065000
16,502
ENSG00000065000
2,645
2,645
ENSG00000065000
distal
NA
NA
19
2,128,264
G
C
false
distal
1,082
rs147892340
0.000986
0.020511
11.207
intron_variant
dELS
ENSG00000065000
825
ENSG00000065000
825
825
ENSG00000065000
dELS
ENSG00000065000
16,934
ENSG00000065000
2,213
2,213
ENSG00000065000
distal
NA
NA
19
2,132,363
G
A
false
distal
1,082
rs113343053
0.000116
0.019341
11.979
intron_variant
dELS
ENSG00000065000
107
ENSG00000065000
107
107
ENSG00000065000
dELS
ENSG00000065000
19,176
ENSG00000065000
1,884
1,884
ENSG00000065000
distal
NA
NA
19
2,136,150
C
T
false
distal
1,082
rs117562745
0.003519
0.02116
63.006
intron_variant
dELS
ENSG00000065000
860
ENSG00000065000
860
860
ENSG00000065000
dELS
ENSG00000065000
15,389
ENSG00000065000
2,663
2,663
ENSG00000065000
distal
NA
NA
19
2,161,444
G
A
true
distal
1,068
rs8102624
0.997555
PP
0.071772
96.678
intron_variant
dELS
ENSG00000104885
2,488
ENSG00000104885
2,753
2,488
ENSG00000104885
dELS
ENSG00000104885
2,488
ENSG00000104885
2,753
2,488
ENSG00000104885
distal
NA
NA
19
2,166,783
A
G
false
distal
1,091
rs145172873
0.000137
0.009448
11.652
intron_variant
dELS
ENSG00000065000
2,314
ENSG00000065000
2,317
2,314
ENSG00000065000
dELS
ENSG00000065000
2,314
ENSG00000065000
2,317
2,314
ENSG00000065000
distal
NA
NA
19
2,183,176
G
T
false
distal
1,084
rs2864419
0.002425
0.45023
133.41
intron_variant
dELS
ENSG00000104885
2,419
ENSG00000104885
2,419
2,419
ENSG00000104885
dELS
ENSG00000065000
18,707
ENSG00000065000
18,710
18,707
ENSG00000065000
distal
NA
NA
19
2,184,006
T
C
false
distal
1,069
rs12974139
0.003286
0.42827
128.53
intron_variant
dELS
ENSG00000104885
1,848
ENSG00000104885
1,848
1,848
ENSG00000104885
dELS
ENSG00000065000
19,537
ENSG00000065000
19,540
19,537
ENSG00000065000
distal
NA
NA
19
2,186,758
T
C
true
distal
1,069
rs8108461
0.99269
BW
0.42773
94.813
intron_variant
dELS
ENSG00000104885
828
ENSG00000104885
828
828
ENSG00000104885
dELS
ENSG00000065000
22,289
ENSG00000065000
22,292
22,289
ENSG00000065000
distal
NA
NA
19
2,236,638
T
C
false
5_prime_UTR_variant
1,098
rs7249204
0.001361
0.067657
93.168
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000104886
0
ENSG00000104886
0
0
ENSG00000104886
5_prime_UTR_variant
ENSG00000104897
185
ENSG00000104886
26
26
ENSG00000104886
5_prime_UTR_variant
NA
NA
19
2,390,091
C
T
false
tss_proximal
991
rs528134445
0.000131
0.003269
10.933
intron_variant
CA-CTCF_flank
ENSG00000178297
163
ENSG00000178297
163
163
ENSG00000178297
tss_proximal
ENSG00000178297
329
ENSG00000178297
319
319
ENSG00000178297
tss_proximal
tss_prox:b1
tss_prox:b1
19
2,390,335
C
T
false
tss_proximal
986
rs138439084
0.000073
0.048457
126.09
intron_variant
CA-CTCF_flank
ENSG00000178297
407
ENSG00000178297
407
407
ENSG00000178297
tss_proximal
ENSG00000178297
573
ENSG00000178297
563
563
ENSG00000178297
tss_proximal
tss_prox:b1
tss_prox:b1
19
2,413,913
G
A
false
missense_variant
1,016
rs10153474
0.000283
0.047533
89.246
missense_variant
missense_variant
ENSG00000178297
0
ENSG00000178297
0
0
ENSG00000178297
missense_variant
ENSG00000099800
13,624
ENSG00000178297
2,329
2,329
ENSG00000178297
missense_variant
NA
NA
19
2,416,798
A
G
false
missense_variant
1,016
rs45546534
0.000511
0.04865
90.549
missense_variant
missense_variant
ENSG00000178297
0
ENSG00000178297
0
0
ENSG00000178297
missense_variant
ENSG00000099800
10,739
ENSG00000178297
554
554
ENSG00000178297
missense_variant
NA
NA
19
2,435,152
C
T
false
missense_variant
1,015
rs121912497
0.000146
0.015318
11.103
missense_variant
missense_variant
ENSG00000176619
0
ENSG00000176619
0
0
ENSG00000176619
missense_variant
ENSG00000099800
7,565
ENSG00000283728
151
151
ENSG00000283728
missense_variant
NA
NA
19
2,453,452
T
C
false
distal
1,066
rs61520003
0.000568
0.29297
119.29
intron_variant
dELS
ENSG00000176619
3,217
ENSG00000267201
5,482
3,217
ENSG00000176619
dELS
ENSG00000176619
3,506
ENSG00000267201
8,732
3,506
ENSG00000176619
distal
NA
NA
19
2,476,390
A
G
false
missense_variant
1,022
rs140611154
0.000074
0.00089
4.1516
missense_variant
missense_variant
ENSG00000099860
0
ENSG00000099860
0
0
ENSG00000099860
missense_variant
ENSG00000099860
33
ENSG00000099860
243
33
ENSG00000099860
missense_variant
NA
NA
19
2,523,783
G
T
true
distal
1,070
rs4806862
0.99944
eBMD
0.32634
52.571
intron_variant
dELS
ENSG00000176533
3,057
ENSG00000176533
3,057
3,057
ENSG00000176533
dELS
ENSG00000099860
47,426
ENSG00000105694
14,328
14,328
ENSG00000105694
distal
NA
NA
19
2,525,316
T
C
false
distal
1,070
rs6510678
0.000175
0.34945
62.193
intron_variant
dELS
ENSG00000176533
4,590
ENSG00000176533
4,590
4,590
ENSG00000176533
dELS
ENSG00000099860
48,959
ENSG00000105694
12,795
12,795
ENSG00000105694
distal
NA
NA
19
2,525,490
C
G
false
distal
1,070
rs560245829
0.002121
0.31381
49.829
intron_variant
dELS
ENSG00000176533
4,764
ENSG00000176533
4,764
4,764
ENSG00000176533
dELS
ENSG00000099860
49,133
ENSG00000105694
12,621
12,621
ENSG00000105694
distal
NA
NA
19
2,525,596
G
C
false
distal
1,070
rs11881279
0.000174
0.35081
62.247
intron_variant
dELS
ENSG00000176533
4,870
ENSG00000176533
4,870
4,870
ENSG00000176533
dELS
ENSG00000099860
49,239
ENSG00000105694
12,515
12,515
ENSG00000105694
distal
NA
NA
19
2,666,369
C
T
false
distal
1,044
rs576366407
0.000159
0.004183
6.9885
intron_variant
dELS_flank
ENSG00000176533
20,088
ENSG00000176533
17,110
17,110
ENSG00000176533
dELS_flank
ENSG00000176533
36,324
ENSG00000176533
17,321
17,321
ENSG00000176533
distal
NA
NA
19
2,668,023
G
A
false
distal
1,044
rs182677804
0.001187
0.004935
13.473
intron_variant
dELS_flank
ENSG00000176533
21,742
ENSG00000176533
15,456
15,456
ENSG00000176533
dELS_flank
ENSG00000176533
34,670
ENSG00000176533
15,667
15,667
ENSG00000176533
distal
NA
NA
19
2,668,192
T
C
false
distal
1,044
rs78907674
0.000459
0.006451
5.0236
intron_variant
dELS_flank
ENSG00000176533
21,911
ENSG00000176533
15,287
15,287
ENSG00000176533
dELS_flank
ENSG00000176533
34,501
ENSG00000176533
15,498
15,498
ENSG00000176533
distal
NA
NA
19
2,739,061
T
C
false
tss_proximal
989
rs112251702
0.000214
0.05662
31.473
intron_variant
pELS_flank
ENSG00000141873
368
ENSG00000141873
883
368
ENSG00000141873
tss_proximal
ENSG00000141873
413
ENSG00000141873
955
413
ENSG00000141873
tss_proximal
tss_prox:b1
tss_prox:b1
19
2,740,851
G
A
false
tss_proximal
989
rs111567842
0.000213
0.056573
31.478
upstream_gene_variant
pELS_flank
ENSG00000267001
802
ENSG00000141873
833
802
ENSG00000267001
tss_proximal
ENSG00000267001
802
ENSG00000141873
833
802
ENSG00000267001
tss_proximal
tss_prox:b1
tss_prox:b1
19
2,857,881
G
A
false
3_prime_UTR_variant
1,114
rs2317033
0.001129
0.15871
75.944
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000186300
0
ENSG00000267063
438
0
ENSG00000186300
3_prime_UTR_variant
ENSG00000172000
9,453
ENSG00000267063
834
834
ENSG00000267063
3_prime_UTR_variant
NA
NA
19
2,858,355
A
G
false
3_prime_UTR_variant
1,114
rs2317032
0.001247
0.15897
76.035
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000186300
0
ENSG00000267063
0
0
ENSG00000186300
3_prime_UTR_variant
ENSG00000172000
8,979
ENSG00000267063
360
360
ENSG00000267063
3_prime_UTR_variant
NA
NA
19
2,916,113
T
G
false
missense_variant
1,032
rs117724451
0.000159
0.030979
13.497
missense_variant
missense_variant
ENSG00000171970
0
ENSG00000253392
404
0
ENSG00000171970
missense_variant
ENSG00000171970
667
ENSG00000253392
2,454
667
ENSG00000171970
missense_variant
NA
NA
19
2,951,758
G
A
false
distal
1,116
rs72986805
0.00012
0.14486
16.384
intergenic_variant
pELS
ENSG00000175691
6,786
ENSG00000288906
1,099
1,099
ENSG00000288906
pELS
ENSG00000175691
6,786
ENSG00000288906
1,099
1,099
ENSG00000288906
distal
NA
NA
19
2,967,943
T
C
false
distal
1,051
rs4807378
0.000115
0.02941
17.427
intergenic_variant
dELS_flank
ENSG00000104953
9,594
ENSG00000104953
9,620
9,594
ENSG00000104953
dELS_flank
ENSG00000104953
9,594
ENSG00000104953
9,620
9,594
ENSG00000104953
distal
NA
NA
19
3,023,753
G
A
false
distal
1,120
rs1975186
0.000217
0.23269
25.249
intron_variant
CA-TF_flank
ENSG00000065717
1,266
ENSG00000065717
1,266
1,266
ENSG00000065717
CA-TF_flank
ENSG00000065717
1,273
ENSG00000065717
1,621
1,273
ENSG00000065717
distal
NA
NA
19
3,023,812
C
A
false
distal
1,120
rs1975185
0.000211
0.23268
25.246
intron_variant
CA-TF_flank
ENSG00000065717
1,207
ENSG00000065717
1,207
1,207
ENSG00000065717
CA-TF_flank
ENSG00000065717
1,214
ENSG00000065717
1,562
1,214
ENSG00000065717
distal
NA
NA
19
3,057,222
T
C
false
tss_proximal
1,097
rs4806901
0.000374
0.082717
16.409
intron_variant
dELS
ENSG00000104964
456
ENSG00000104964
217
217
ENSG00000104964
tss_proximal
ENSG00000104964
4,181
ENSG00000104964
453
453
ENSG00000104964
tss_proximal
tss_prox:b2
tss_prox:b1
19
3,058,056
G
A
false
tss_proximal
1,097
rs1058707
0.000391
0.081444
16.553
intron_variant
dELS
ENSG00000104964
313
ENSG00000104964
307
307
ENSG00000104964
tss_proximal
ENSG00000104964
3,347
ENSG00000104964
307
307
ENSG00000104964
tss_proximal
tss_prox:b2
tss_prox:b1
19
3,062,859
T
C
true
synonymous_variant
1,058
rs11539938
0.99995
SHBG
0.42121
20.61
synonymous_variant
synonymous_variant
ENSG00000104964
0
ENSG00000104964
448
0
ENSG00000104964
synonymous_variant
ENSG00000104964
23
ENSG00000104964
448
23
ENSG00000104964
synonymous_variant
NA
NA
19
3,067,741
C
A
false
distal
1,080
rs10406841
0.000298
0.017523
9.1794
intergenic_variant
dELS
ENSG00000104964
4,633
ENSG00000104964
5,330
4,633
ENSG00000104964
dELS
ENSG00000104964
4,633
ENSG00000104964
5,330
4,633
ENSG00000104964
distal
NA
NA
19
3,136,093
C
T
true
5_prime_UTR_variant
1,098
rs117552144
0.98928
Asthma
0.066691
11.978
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000060558
0
ENSG00000060558
348
0
ENSG00000060558
5_prime_UTR_variant
ENSG00000060558
59
ENSG00000060558
348
59
ENSG00000060558
5_prime_UTR_variant
NA
NA
19
3,148,122
C
T
false
distal
1,048
rs61167836
0.000101
0.49059
43.603
intron_variant
dELS_flank
ENSG00000060558
468
ENSG00000060558
468
468
ENSG00000060558
dELS_flank
ENSG00000060558
12,088
ENSG00000060558
1,717
1,717
ENSG00000060558
distal
NA
NA
19
3,151,482
C
T
false
distal
1,082
rs150399018
0.000091
0.017243
8.8402
intron_variant
dELS
ENSG00000060558
224
ENSG00000060558
224
224
ENSG00000060558
dELS
ENSG00000060558
15,448
ENSG00000060558
1,641
1,641
ENSG00000060558
distal
NA
NA
19
3,176,000
G
A
false
distal
1,081
rs62125884
0.000269
0.28393
42.258
intron_variant
dELS
ENSG00000125910
2,768
ENSG00000289471
2,325
2,325
ENSG00000289471
dELS
ENSG00000125910
2,768
ENSG00000289471
2,707
2,707
ENSG00000289471
distal
NA
NA
19
3,179,023
G
A
true
synonymous_variant
1,059
rs34728133
0.99989
Mono
0.093936
27.714
synonymous_variant
synonymous_variant
ENSG00000125910
0
ENSG00000125910
190
0
ENSG00000125910
synonymous_variant
ENSG00000125910
253
ENSG00000289471
314
253
ENSG00000125910
synonymous_variant
NA
NA
19
3,179,519
C
T
true
missense_variant
1,001
rs61731111
1
Eosino,Mono
0.010969
17.61
missense_variant
missense_variant
ENSG00000125910
0
ENSG00000125910
0
0
ENSG00000125910
missense_variant
ENSG00000125910
749
ENSG00000289471
810
749
ENSG00000125910
missense_variant
NA
NA
19
3,179,886
G
T
true
missense_variant
1,002
rs3746072
0.999035
Eosino
0.006945
7.9307
missense_variant
missense_variant
ENSG00000125910
0
ENSG00000125910
358
0
ENSG00000125910
missense_variant
ENSG00000125910
1,116
ENSG00000289471
1,177
1,116
ENSG00000125910
missense_variant
NA
NA
19
3,203,964
C
T
true
tss_proximal
1,102
rs144284241
0.93764
WBC
0.006447
8.5477
intron_variant
CA-H3K4me3
ENSG00000125912
40
ENSG00000125912
40
40
ENSG00000125912
tss_proximal
ENSG00000125912
166
ENSG00000125912
50
50
ENSG00000125912
tss_proximal
tss_prox:b1
tss_prox:b0