rs6054517

Homo sapiens
C>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0054 (1642/29970,GnomAD)
A=0051 (1494/29118,TOPMED)
A=0033 (163/5008,1000G)
A=0058 (222/3854,ALSPAC)
A=0060 (221/3708,TWINSUK)
chr20:6790723 (GRCh38.p7) (20p12.3)
AD
GWASdb2
1   publication(s)
See rs on genome
22 Enhancers around
17 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.6790723C>A
GRCh37.p13 chr 20NC_000020.10:g.6771370C>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.970A=0.030
1000GenomesAmericanSub694C=0.970A=0.030
1000GenomesEast AsianSub1008C=0.990A=0.010
1000GenomesEuropeSub1006C=0.926A=0.074
1000GenomesGlobalStudy-wide5008C=0.967A=0.033
1000GenomesSouth AsianSub978C=0.980A=0.020
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.942A=0.058
The Genome Aggregation DatabaseAfricanSub8728C=0.969A=0.031
The Genome Aggregation DatabaseAmericanSub836C=0.970A=0.030
The Genome Aggregation DatabaseEast AsianSub1620C=0.994A=0.006
The Genome Aggregation DatabaseEuropeSub18486C=0.928A=0.071
The Genome Aggregation DatabaseGlobalStudy-wide29970C=0.945A=0.054
The Genome Aggregation DatabaseOtherSub300C=0.940A=0.060
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.948A=0.051
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.940A=0.060
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
rs60545170.000722alcohol dependence20201924

eQTL of rs6054517 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 rs6054517 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 )
chr2067470486747657E067-23713
chr2067611886761326E067-10044
chr2067470486747657E068-23713
chr2067470486747657E069-23713
chr2067607806760850E070-10520
chr2067609346761146E070-10224
chr2067611886761326E070-10044
chr2067613766762151E070-9219
chr2067465996746674E074-24696
chr2067467186746896E074-24474
chr2067470486747657E074-23713
chr2067273956727509E081-43861
chr2067275816727929E081-43441
chr2067465996746674E081-24696
chr2067467186746896E081-24474
chr2067470486747657E081-23713
chr2067642916764742E081-6628
chr2067648686765344E081-6026
chr2067655576765641E081-5729
chr2067657906765992E081-5378
chr2067661066766156E081-5214
chr2067470486747657E082-23713







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2067478046749784E067-21586
chr2067498226751741E067-19629
chr2067478046749784E068-21586
chr2067498226751741E068-19629
chr2067478046749784E069-21586
chr2067498226751741E069-19629
chr2067478046749784E071-21586
chr2067498226751741E071-19629
chr2067478046749784E072-21586
chr2067498226751741E072-19629
chr2067478046749784E073-21586
chr2067498226751741E073-19629
chr2067478046749784E074-21586
chr2067498226751741E074-19629
chr2067477316747789E082-23581
chr2067478046749784E082-21586
chr2067498226751741E082-19629