rs5359

Homo sapiens
T>C
SELE : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0184 (5520/29958,GnomAD)
C=0204 (5942/29118,TOPMED)
C=0245 (1226/5008,1000G)
C=0141 (545/3854,ALSPAC)
C=0134 (496/3708,TWINSUK)
chr1:169723381 (GRCh38.p7) (1q24.2)
AD
GWASdb2
3   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.169723381T>C
GRCh37.p13 chr 1NC_000001.10:g.169692522T>C
SELE RefSeqGeneNG_012124.1:g.15699A>G

Gene: SELE, selectin E(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SELE transcriptNM_000450.2:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.728C=0.272
1000GenomesAmericanSub694T=0.720C=0.280
1000GenomesEast AsianSub1008T=0.744C=0.256
1000GenomesEuropeSub1006T=0.826C=0.174
1000GenomesGlobalStudy-wide5008T=0.755C=0.245
1000GenomesSouth AsianSub978T=0.750C=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.859C=0.141
The Genome Aggregation DatabaseAfricanSub8732T=0.755C=0.245
The Genome Aggregation DatabaseAmericanSub838T=0.670C=0.330
The Genome Aggregation DatabaseEast AsianSub1610T=0.750C=0.250
The Genome Aggregation DatabaseEuropeSub18476T=0.856C=0.143
The Genome Aggregation DatabaseGlobalStudy-wide29958T=0.815C=0.184
The Genome Aggregation DatabaseOtherSub302T=0.860C=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.795C=0.204
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.866C=0.134
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
26194693Polymorphisms in host genes encoding NOSII, C-reactive protein, and adhesion molecules thrombospondin and E-selectin are risk factors for Plasmodium falciparum malaria in India.Kanchan KEur J Clin Microbiol Infect Dis
20673868A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM).Romero RAm J Obstet Gynecol

P-Value

SNP ID p-value Traits Study
rs53590.00000698alcoholismpha002891
rs53590.00000698alcohol dependence20201924

eQTL of rs5359 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 rs5359 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 )
chr1169663053169664067E071-28455
chr1169664116169664389E071-28133
chr1169661474169662757E074-29765


Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1169680599169681493E067-11029
chr1169680599169681493E068-11029
chr1169680599169681493E069-11029
chr1169680599169681493E071-11029
chr1169680599169681493E072-11029
chr1169680599169681493E073-11029
chr1169680599169681493E074-11029