rs1670530

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0061 (1855/29978,GnomAD)
T=0091 (2672/29116,TOPMED)
T=0062 (309/5008,1000G)
T=0020 (77/3854,ALSPAC)
T=0018 (68/3708,TWINSUK)
chr2:4544651 (GRCh38.p7) (2p25.2)
AD
GWASdb2
1   publication(s)
See rs on genome
8 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.4544651C>T
GRCh37.p13 chr 2NC_000002.11:g.4592241C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.805T=0.195
1000GenomesAmericanSub694C=0.970T=0.030
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=0.972T=0.028
1000GenomesGlobalStudy-wide5008C=0.938T=0.062
1000GenomesSouth AsianSub978C=1.000T=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.980T=0.020
The Genome Aggregation DatabaseAfricanSub8712C=0.823T=0.177
The Genome Aggregation DatabaseAmericanSub838C=0.980T=0.020
The Genome Aggregation DatabaseEast AsianSub1618C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18508C=0.985T=0.014
The Genome Aggregation DatabaseGlobalStudy-wide29978C=0.938T=0.061
The Genome Aggregation DatabaseOtherSub302C=0.940T=0.060
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.908T=0.091
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.982T=0.018
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
rs16705300.00041alcohol dependence20201924

eQTL of rs1670530 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 rs1670530 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 )
chr245473724547502E068-44739
chr245469994547348E070-44893
chr245473724547502E070-44739
chr246410294641100E07048788
chr245669614567087E081-25154
chr245672574567343E081-24898
chr245757084576331E081-15910
chr245994544599594E0817213