rs7512221

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0158 (4738/29958,GnomAD)
C==0224 (6539/29116,TOPMED)
C==0189 (945/5008,1000G)
C==0045 (173/3854,ALSPAC)
C==0047 (174/3708,TWINSUK)
chr1:220428281 (GRCh38.p7) (1q41)
ND
GWASdb2
2   publication(s)
See rs on genome
10 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.220428281C>T
GRCh37.p13 chr 1NC_000001.10:g.220601623C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.466T=0.534
1000GenomesAmericanSub694C=0.070T=0.930
1000GenomesEast AsianSub1008C=0.110T=0.890
1000GenomesEuropeSub1006C=0.047T=0.953
1000GenomesGlobalStudy-wide5008C=0.189T=0.811
1000GenomesSouth AsianSub978C=0.130T=0.870
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.045T=0.955
The Genome Aggregation DatabaseAfricanSub8698C=0.408T=0.592
The Genome Aggregation DatabaseAmericanSub838C=0.050T=0.950
The Genome Aggregation DatabaseEast AsianSub1618C=0.103T=0.897
The Genome Aggregation DatabaseEuropeSub18502C=0.051T=0.948
The Genome Aggregation DatabaseGlobalStudy-wide29958C=0.158T=0.841
The Genome Aggregation DatabaseOtherSub302C=0.070T=0.930
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.224T=0.775
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.047T=0.953
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet
21897333Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.Irvin MRPharmacogenet Genomics

P-Value

SNP ID p-value Traits Study
rs75122217.44E-07alcohol and nictotine co-dependence20158304

eQTL of rs7512221 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 rs7512221 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 )
chr1220564728220564818E070-36805
chr1220564882220565268E070-36355
chr1220582831220583008E070-18615
chr1220584034220584339E070-17284
chr1220584340220584699E070-16924
chr1220564882220565268E071-36355
chr1220582831220583008E081-18615
chr1220583022220583843E081-17780
chr1220584034220584339E082-17284
chr1220584340220584699E082-16924