rs1076637

Homo sapiens
C>T
SELE : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0223 (6691/29938,GnomAD)
T=0238 (6936/29118,TOPMED)
T=0329 (1648/5008,1000G)
T=0143 (552/3854,ALSPAC)
T=0134 (498/3708,TWINSUK)
chr1:169728303 (GRCh38.p7) (1q24.2)
AD
GWASdb2
2   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.169728303C>T
GRCh37.p13 chr 1NC_000001.10:g.169697444C>T
SELE RefSeqGeneNG_012124.1:g.10777G>A

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
1000GenomesAfricanSub1322C=0.654T=0.346
1000GenomesAmericanSub694C=0.680T=0.320
1000GenomesEast AsianSub1008C=0.506T=0.494
1000GenomesEuropeSub1006C=0.815T=0.185
1000GenomesGlobalStudy-wide5008C=0.671T=0.329
1000GenomesSouth AsianSub978C=0.710T=0.290
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.857T=0.143
The Genome Aggregation DatabaseAfricanSub8698C=0.694T=0.306
The Genome Aggregation DatabaseAmericanSub838C=0.620T=0.380
The Genome Aggregation DatabaseEast AsianSub1602C=0.559T=0.441
The Genome Aggregation DatabaseEuropeSub18498C=0.839T=0.160
The Genome Aggregation DatabaseGlobalStudy-wide29938C=0.776T=0.223
The Genome Aggregation DatabaseOtherSub302C=0.860T=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.761T=0.238
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.866T=0.134
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
20452482Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes.Romero RAm J Obstet Gynecol

P-Value

SNP ID p-value Traits Study
rs10766370.0000189alcoholismpha002891
rs10766370.0000189alcohol dependence20201924

eQTL of rs1076637 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 rs1076637 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 )
chr1169663053169664067E071-33377
chr1169664116169664389E071-33055
chr1169661474169662757E074-34687


Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1169680599169681493E067-15951
chr1169680599169681493E068-15951
chr1169680599169681493E069-15951
chr1169680599169681493E071-15951
chr1169680599169681493E072-15951
chr1169680599169681493E073-15951
chr1169680599169681493E074-15951