rs5353

Homo sapiens
T>C
SELE : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0341 (10213/29932,GnomAD)
C=0361 (10529/29118,TOPMED)
C=0459 (2299/5008,1000G)
C=0255 (982/3854,ALSPAC)
C=0243 (900/3708,TWINSUK)
chr1:169733833 (GRCh38.p7) (1q24.2)
AD
GWASdb2
1   publication(s)
See rs on genome
3 Enhancers around
7 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.169733833T>C
GRCh37.p13 chr 1NC_000001.10:g.169702974T>C
SELE RefSeqGeneNG_012124.1:g.5247A>G

Gene: SELE, selectin E(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SELE transcriptNM_000450.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.498C=0.502
1000GenomesAmericanSub694T=0.590C=0.410
1000GenomesEast AsianSub1008T=0.431C=0.569
1000GenomesEuropeSub1006T=0.702C=0.298
1000GenomesGlobalStudy-wide5008T=0.541C=0.459
1000GenomesSouth AsianSub978T=0.510C=0.490
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.745C=0.255
The Genome Aggregation DatabaseAfricanSub8710T=0.555C=0.445
The Genome Aggregation DatabaseAmericanSub838T=0.550C=0.450
The Genome Aggregation DatabaseEast AsianSub1614T=0.463C=0.537
The Genome Aggregation DatabaseEuropeSub18470T=0.729C=0.270
The Genome Aggregation DatabaseGlobalStudy-wide29932T=0.658C=0.341
The Genome Aggregation DatabaseOtherSub300T=0.660C=0.340
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.638C=0.361
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.757C=0.243
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
rs53530.0000511alcoholismpha002891
rs53530.0000511alcohol dependence20201924

eQTL of rs5353 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr1:169702974RN7SL333PENSG00000239494.2T>C3.6310e-3-125923Cerebellar_Hemisphere

meQTL of rs5353 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 )
chr1169663053169664067E071-38907
chr1169664116169664389E071-38585
chr1169661474169662757E074-40217


Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1169680599169681493E067-21481
chr1169680599169681493E068-21481
chr1169680599169681493E069-21481
chr1169680599169681493E071-21481
chr1169680599169681493E072-21481
chr1169680599169681493E073-21481
chr1169680599169681493E074-21481