rs6128273

Homo sapiens
C>A
LOC107985434 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0152 (4551/29940,GnomAD)
C==0196 (5731/29118,TOPMED)
C==0159 (796/5008,1000G)
C==0089 (343/3854,ALSPAC)
C==0078 (288/3708,TWINSUK)
chr20:58144617 (GRCh38.p7) (20q13.32)
AD
GWASdb2
1   publication(s)
See rs on genome
8 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.58144617C>A
GRCh37.p13 chr 20NC_000020.10:g.56719673C>A

Gene: LOC107985434, uncharacterized LOC107985434(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC107985434 transcriptXR_001754692.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.394A=0.606
1000GenomesAmericanSub694C=0.140A=0.860
1000GenomesEast AsianSub1008C=0.025A=0.975
1000GenomesEuropeSub1006C=0.086A=0.914
1000GenomesGlobalStudy-wide5008C=0.159A=0.841
1000GenomesSouth AsianSub978C=0.070A=0.930
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.089A=0.911
The Genome Aggregation DatabaseAfricanSub8700C=0.333A=0.667
The Genome Aggregation DatabaseAmericanSub838C=0.130A=0.870
The Genome Aggregation DatabaseEast AsianSub1620C=0.030A=0.970
The Genome Aggregation DatabaseEuropeSub18480C=0.079A=0.920
The Genome Aggregation DatabaseGlobalStudy-wide29940C=0.152A=0.848
The Genome Aggregation DatabaseOtherSub302C=0.090A=0.910
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.196A=0.803
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.078A=0.922
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs61282730.000802alcohol dependence20201924

eQTL of rs6128273 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 rs6128273 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 )
chr205668856156688694E067-30979
chr205668870956688764E067-30909
chr205668879356689263E067-30410
chr205671600056716191E067-3482
chr205671638156716500E067-3173
chr205671655456716598E067-3075
chr205671673956716841E067-2832
chr205671705656717152E067-2521
chr205675530356755353E06735630
chr205675537756755474E06735704
chr205670509456705218E068-14455
chr205671638156716500E068-3173
chr205671655456716598E068-3075
chr205668930556689390E069-30283
chr205670566856706105E069-13568
chr205671563256715676E069-3997
chr205671600056716191E069-3482
chr205671638156716500E069-3173
chr205671655456716598E069-3075
chr205671673956716841E069-2832
chr205671705656717152E069-2521
chr205668639456686721E070-32952
chr205668675656687828E070-31845
chr205668827156688337E070-31336
chr205668856156688694E070-30979
chr205668870956688764E070-30909
chr205668879356689263E070-30410
chr205668930556689390E070-30283
chr205668944056689530E070-30143
chr205670436456704568E070-15105
chr205670474756704986E070-14687
chr205670509456705218E070-14455
chr205670528056705431E070-14242
chr205670554156705622E070-14051
chr205670566856706105E070-13568
chr205670616056708005E070-11668
chr205671205256712441E070-7232
chr205672413256724261E0704459
chr205672429056724614E0704617
chr205672467856724775E0705005
chr205672486756725041E0705194
chr205670269356703255E071-16418
chr205670566856706105E071-13568
chr205670984356710177E071-9496
chr205671600056716191E071-3482
chr205671638156716500E071-3173
chr205671655456716598E071-3075
chr205671673956716841E071-2832
chr205671705656717152E071-2521
chr205671600056716191E072-3482
chr205671638156716500E072-3173
chr205671655456716598E072-3075
chr205671673956716841E072-2832
chr205671705656717152E072-2521
chr205668856156688694E073-30979
chr205668870956688764E073-30909
chr205670528056705431E073-14242
chr205670554156705622E073-14051
chr205670566856706105E073-13568
chr205670616056708005E073-11668
chr205672486756725041E0735194
chr205675395756754146E07334284
chr205670269356703255E074-16418
chr205670334156703602E074-16071
chr205670509456705218E074-14455
chr205670528056705431E074-14242
chr205670554156705622E074-14051
chr205670566856706105E074-13568
chr205670616056708005E074-11668
chr205671526756715317E074-4356
chr205671563256715676E074-3997
chr205671600056716191E074-3482
chr205671638156716500E074-3173
chr205671655456716598E074-3075
chr205671673956716841E074-2832
chr205671705656717152E074-2521
chr205668856156688694E081-30979
chr205668870956688764E081-30909
chr205668879356689263E081-30410
chr205668930556689390E081-30283
chr205668944056689530E081-30143
chr205670474756704986E081-14687
chr205670509456705218E081-14455
chr205670528056705431E081-14242
chr205670554156705622E081-14051
chr205670566856706105E081-13568
chr205670616056708005E081-11668
chr205671038256711420E081-8253
chr205671145656711663E081-8010
chr205671171756711857E081-7816
chr205671188656711972E081-7701
chr205671205256712441E081-7232
chr205672413256724261E0814459
chr205672429056724614E0814617
chr205674834956748430E08128676
chr205674860556748679E08128932
chr205674871056748966E08129037
chr205674907056749161E08129397
chr205674917056750557E08129497
chr205675195756752060E08132284
chr205675208556752195E08132412
chr205675237056752424E08132697
chr205675247456752650E08132801
chr205668827156688337E082-31336
chr205668856156688694E082-30979
chr205668870956688764E082-30909
chr205668879356689263E082-30410
chr205668930556689390E082-30283
chr205668944056689530E082-30143
chr205670509456705218E082-14455
chr205670528056705431E082-14242
chr205670616056708005E082-11668
chr205671038256711420E082-8253
chr205671145656711663E082-8010
chr205671171756711857E082-7816
chr205671188656711972E082-7701
chr205672413256724261E0824459
chr205672429056724614E0824617
chr205672467856724775E0825005
chr205672486756725041E0825194










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr205675417056755075E06734497
chr205675417056755075E06834497
chr205675417056755075E06934497
chr205675417056755075E07134497
chr205675417056755075E07234497
chr205675417056755075E07334497
chr205675417056755075E07434497
chr205675417056755075E08234497