rs2527128

Homo sapiens
C>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0099 (2985/29980,GnomAD)
A=0116 (3390/29118,TOPMED)
A=0066 (329/5008,1000G)
A=0089 (344/3854,ALSPAC)
A=0094 (349/3708,TWINSUK)
chr8:5726852 (GRCh38.p7) (8p23.2)
AD
GWASdb2
1   publication(s)
See rs on genome
6 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.5726852C>A
GRCh37.p13 chr 8NC_000008.10:g.5584374C>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.847A=0.153
1000GenomesAmericanSub694C=0.950A=0.050
1000GenomesEast AsianSub1008C=1.000A=0.000
1000GenomesEuropeSub1006C=0.928A=0.072
1000GenomesGlobalStudy-wide5008C=0.934A=0.066
1000GenomesSouth AsianSub978C=0.980A=0.020
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.911A=0.089
The Genome Aggregation DatabaseAfricanSub8732C=0.856A=0.144
The Genome Aggregation DatabaseAmericanSub838C=0.940A=0.060
The Genome Aggregation DatabaseEast AsianSub1622C=0.999A=0.001
The Genome Aggregation DatabaseEuropeSub18486C=0.910A=0.089
The Genome Aggregation DatabaseGlobalStudy-wide29980C=0.900A=0.099
The Genome Aggregation DatabaseOtherSub302C=0.920A=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.883A=0.116
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.906A=0.094
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
rs25271280.00072alcohol dependence20201924

eQTL of rs2527128 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 rs2527128 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 )
chr855344105534570E081-49804
chr855345745534624E081-49750
chr855346725534726E081-49648
chr856164965616701E08132122
chr856168375616898E08132463
chr856170585617108E08132684