rs4496732

Homo sapiens
C>T
SRFBP1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0116 (3473/29906,GnomAD)
C==0102 (2983/29118,TOPMED)
C==0089 (448/5008,1000G)
C==0138 (533/3854,ALSPAC)
C==0129 (479/3708,TWINSUK)
chr5:121982225 (GRCh38.p7) (5q23.1)
ND
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.121982225C>T
GRCh37.p13 chr 5NC_000005.9:g.121317920C>T

Gene: SRFBP1, serum response factor binding protein 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SRFBP1 transcriptNM_152546.2:c.N/AIntron Variant
SRFBP1 transcript variant X1XM_017009111.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.092T=0.908
1000GenomesAmericanSub694C=0.090T=0.910
1000GenomesEast AsianSub1008C=0.038T=0.962
1000GenomesEuropeSub1006C=0.124T=0.876
1000GenomesGlobalStudy-wide5008C=0.089T=0.911
1000GenomesSouth AsianSub978C=0.100T=0.900
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.138T=0.862
The Genome Aggregation DatabaseAfricanSub8726C=0.091T=0.909
The Genome Aggregation DatabaseAmericanSub836C=0.100T=0.900
The Genome Aggregation DatabaseEast AsianSub1614C=0.032T=0.968
The Genome Aggregation DatabaseEuropeSub18428C=0.135T=0.864
The Genome Aggregation DatabaseGlobalStudy-wide29906C=0.116T=0.883
The Genome Aggregation DatabaseOtherSub302C=0.170T=0.830
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.102T=0.897
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.129T=0.871
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs44967326.35E-05alcohol and nictotine co-dependence20158304

eQTL of rs4496732 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 rs4496732 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 )
chr5121299247121299484E067-18436
chr5121304742121305335E067-12585
chr5121305396121305574E067-12346
chr5121305703121305869E067-12051
chr5121299247121299484E068-18436
chr5121304512121304619E068-13301
chr5121304742121305335E068-12585
chr5121305396121305574E068-12346
chr5121305703121305869E068-12051
chr5121299247121299484E069-18436
chr5121304512121304619E069-13301
chr5121304742121305335E069-12585
chr5121305396121305574E069-12346
chr5121305703121305869E069-12051
chr5121322018121322198E0694098
chr5121299247121299484E070-18436
chr5121305703121305869E070-12051
chr5121296660121296724E071-21196
chr5121304512121304619E071-13301
chr5121304742121305335E071-12585
chr5121305396121305574E071-12346
chr5121305703121305869E071-12051
chr5121322018121322198E0714098
chr5121349393121349476E07131473
chr5121304512121304619E073-13301
chr5121304742121305335E073-12585
chr5121305396121305574E073-12346
chr5121299247121299484E074-18436
chr5121304742121305335E074-12585
chr5121305396121305574E074-12346
chr5121305703121305869E074-12051
chr5121322018121322198E0744098
chr5121351329121351407E08133409
chr5121351329121351407E08233409









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5121296932121298622E067-19298
chr5121296932121298622E068-19298
chr5121296932121298622E069-19298
chr5121296932121298622E070-19298
chr5121296932121298622E071-19298
chr5121296932121298622E072-19298
chr5121296932121298622E073-19298
chr5121296932121298622E074-19298
chr5121296932121298622E081-19298
chr5121296932121298622E082-19298