rs6117232

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0235 (7049/29912,GnomAD)
T=0258 (7512/29118,TOPMED)
T=0275 (1375/5008,1000G)
T=0173 (668/3854,ALSPAC)
T=0157 (583/3708,TWINSUK)
chr20:708893 (GRCh38.p7) (20p13)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.708893C>T
GRCh37.p13 chr 20NC_000020.10:g.689537C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.626T=0.374
1000GenomesAmericanSub694C=0.820T=0.180
1000GenomesEast AsianSub1008C=0.578T=0.422
1000GenomesEuropeSub1006C=0.804T=0.196
1000GenomesGlobalStudy-wide5008C=0.725T=0.275
1000GenomesSouth AsianSub978C=0.860T=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.827T=0.173
The Genome Aggregation DatabaseAfricanSub8700C=0.660T=0.340
The Genome Aggregation DatabaseAmericanSub838C=0.800T=0.200
The Genome Aggregation DatabaseEast AsianSub1614C=0.558T=0.442
The Genome Aggregation DatabaseEuropeSub18458C=0.829T=0.170
The Genome Aggregation DatabaseGlobalStudy-wide29912C=0.764T=0.235
The Genome Aggregation DatabaseOtherSub302C=0.800T=0.200
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.742T=0.258
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.843T=0.157
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs61172329.5E-05alcoholism (heaviness of drinking)21529783

eQTL of rs6117232 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs6117232 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr20649059649109E067-40428
chr20649928650062E067-39475
chr20653598653989E067-35548
chr20719366720307E06729829
chr20679978680090E068-9447
chr20680159680462E068-9075
chr20679978680090E069-9447
chr20680159680462E069-9075
chr20640619640731E070-48806
chr20643636643744E070-45793
chr20645855645939E070-43598
chr20645943646689E070-42848
chr20646775646825E070-42712
chr20646926647002E070-42535
chr20647107647177E070-42360
chr20647432647496E070-42041
chr20647699647783E070-41754
chr20647831647871E070-41666
chr20647926647976E070-41561
chr20648028648529E070-41008
chr20648584648674E070-40863
chr20648862648912E070-40625
chr20649059649109E070-40428
chr20649184649295E070-40242
chr20649401649551E070-39986
chr20649554649620E070-39917
chr20649928650062E070-39475
chr20650967651007E070-38530
chr20651929651983E070-37554
chr20668868669134E070-20403
chr20669214669468E070-20069
chr20669476669900E070-19637
chr20670047670171E070-19366
chr20670187670227E070-19310
chr20675821676018E070-13519
chr20679978680090E070-9447
chr20680159680462E070-9075
chr20680552680842E070-8695
chr20680847680955E070-8582
chr20681086681140E070-8397
chr20685502685608E070-3929
chr20686087686137E070-3400
chr20686558686624E070-2913
chr20686706686836E070-2701
chr20687233687395E070-2142
chr20687521687591E070-1946
chr20687822688102E070-1435
chr20688923689013E070-524
chr20691938692668E0702401
chr20698617698807E0709080
chr20700472700822E07010935
chr20700955701005E07011418
chr20701025701150E07011488
chr20701380701420E07011843
chr20709673709755E07020136
chr20714516714646E07024979
chr20714675714740E07025138
chr20714749714799E07025212
chr20714947715045E07025410
chr20719366720307E07029829
chr20734511734576E07044974
chr20734593734701E07045056
chr20734732734874E07045195
chr20734993735111E07045456
chr20735195735249E07045658
chr20680159680462E071-9075
chr20680552680842E071-8695
chr20680847680955E071-8582
chr20681086681140E071-8397
chr20649401649551E072-39986
chr20649554649620E072-39917
chr20649928650062E072-39475
chr20679978680090E072-9447
chr20680159680462E072-9075
chr20680552680842E072-8695
chr20680847680955E072-8582
chr20681086681140E072-8397
chr20650967651007E073-38530
chr20679978680090E073-9447
chr20680159680462E073-9075
chr20680552680842E073-8695
chr20719366720307E07329829
chr20732458732743E07342921
chr20732759732809E07343222
chr20732862733188E07343325
chr20641619641859E081-47678
chr20641986642036E081-47501
chr20642169642219E081-47318
chr20642306642362E081-47175
chr20643636643744E081-45793
chr20645400645488E081-44049
chr20645855645939E081-43598
chr20645943646689E081-42848
chr20646775646825E081-42712
chr20646926647002E081-42535
chr20647107647177E081-42360
chr20647432647496E081-42041
chr20647699647783E081-41754
chr20647831647871E081-41666
chr20647926647976E081-41561
chr20648028648529E081-41008
chr20649928650062E081-39475
chr20650967651007E081-38530
chr20651929651983E081-37554
chr20667941668052E081-21485
chr20668179668245E081-21292
chr20668574668702E081-20835
chr20668868669134E081-20403
chr20669214669468E081-20069
chr20669476669900E081-19637
chr20670047670171E081-19366
chr20670187670227E081-19310
chr20671448671570E081-17967
chr20678880678930E081-10607
chr20678981679044E081-10493
chr20679111679161E081-10376
chr20679482679571E081-9966
chr20679978680090E081-9447
chr20680159680462E081-9075
chr20680552680842E081-8695
chr20680847680955E081-8582
chr20681086681140E081-8397
chr20681216681270E081-8267
chr20681569681638E081-7899
chr20682279682416E081-7121
chr20682472682731E081-6806
chr20682807682876E081-6661
chr20686706686836E081-2701
chr20687233687395E081-2142
chr20687521687591E081-1946
chr20687822688102E081-1435
chr20688923689013E081-524
chr20691938692668E0812401
chr20700472700822E08110935
chr20700955701005E08111418
chr20701025701150E08111488
chr20701380701420E08111843
chr20703218703268E08113681
chr20703410703567E08113873
chr20703592703642E08114055
chr20704311704361E08114774
chr20704414704726E08114877
chr20704765704869E08115228
chr20707811707861E08118274
chr20707923707973E08118386
chr20714516714646E08124979
chr20714675714740E08125138
chr20714749714799E08125212
chr20714947715045E08125410
chr20734511734576E08144974
chr20734593734701E08145056
chr20641986642036E082-47501
chr20642169642219E082-47318
chr20642306642362E082-47175
chr20643636643744E082-45793
chr20645400645488E082-44049
chr20645855645939E082-43598
chr20645943646689E082-42848
chr20646775646825E082-42712
chr20646926647002E082-42535
chr20647107647177E082-42360
chr20647432647496E082-42041
chr20647699647783E082-41754
chr20647831647871E082-41666
chr20647926647976E082-41561
chr20648028648529E082-41008
chr20648584648674E082-40863
chr20648862648912E082-40625
chr20649059649109E082-40428
chr20649184649295E082-40242
chr20649401649551E082-39986
chr20649554649620E082-39917
chr20668179668245E082-21292
chr20668574668702E082-20835
chr20668868669134E082-20403
chr20669214669468E082-20069
chr20669476669900E082-19637
chr20679978680090E082-9447
chr20680159680462E082-9075
chr20680552680842E082-8695
chr20680847680955E082-8582
chr20681086681140E082-8397
chr20681216681270E082-8267
chr20681569681638E082-7899
chr20682279682416E082-7121
chr20682472682731E082-6806
chr20684406684456E082-5081
chr20686558686624E082-2913
chr20686706686836E082-2701
chr20687233687395E082-2142
chr20687521687591E082-1946
chr20687822688102E082-1435
chr20688923689013E082-524
chr20699726699801E08210189
chr20700472700822E08210935
chr20700955701005E08211418
chr20701025701150E08211488
chr20704414704726E08214877
chr20704765704869E08215228
chr20704953705003E08215416
chr20709673709755E08220136









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr20708581708830E06719044
chr20708937709653E06719400
chr20708581708830E06819044
chr20708937709653E06819400
chr20655071657901E069-31636
chr20708581708830E06919044
chr20708937709653E06919400
chr20655071657901E070-31636
chr20690041690362E070504
chr20690466690524E070929
chr20690618691006E0701081
chr20708474708525E07018937
chr20708581708830E07019044
chr20708937709653E07019400
chr20708581708830E07119044
chr20708937709653E07119400
chr20655071657901E072-31636
chr20708937709653E07219400
chr20655071657901E073-31636
chr20708581708830E07319044
chr20708937709653E07319400
chr20655071657901E082-31636
chr20690041690362E082504
chr20690466690524E082929
chr20690618691006E0821081
chr20708474708525E08218937
chr20708581708830E08219044
chr20708937709653E08219400