rs964555

Homo sapiens
A>C
SELL : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0141 (4235/29928,GnomAD)
C=0153 (4468/29118,TOPMED)
C=0188 (944/5008,1000G)
C=0095 (367/3854,ALSPAC)
C=0097 (360/3708,TWINSUK)
chr1:169701947 (GRCh38.p7) (1q24.2)
AD
GWASdb2
1   publication(s)
See rs on genome
6 Enhancers around
7 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.169701947A>C
GRCh37.p13 chr 1NC_000001.10:g.169671088A>C
SELL RefSeqGeneNG_016132.1:g.14756T>G

Gene: SELL, selectin L(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SELL transcript variant 1NM_000655.4:c.N/AIntron Variant
SELL transcript variant 2NR_029467.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.776C=0.224
1000GenomesAmericanSub694A=0.760C=0.240
1000GenomesEast AsianSub1008A=0.797C=0.203
1000GenomesEuropeSub1006A=0.874C=0.126
1000GenomesGlobalStudy-wide5008A=0.812C=0.188
1000GenomesSouth AsianSub978A=0.850C=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.905C=0.095
The Genome Aggregation DatabaseAfricanSub8698A=0.806C=0.194
The Genome Aggregation DatabaseAmericanSub838A=0.710C=0.290
The Genome Aggregation DatabaseEast AsianSub1606A=0.802C=0.198
The Genome Aggregation DatabaseEuropeSub18484A=0.893C=0.106
The Genome Aggregation DatabaseGlobalStudy-wide29928A=0.858C=0.141
The Genome Aggregation DatabaseOtherSub302A=0.930C=0.070
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.846C=0.153
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.903C=0.097
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
rs9645550.0000234alcoholismpha002891
rs9645550.0000234alcohol dependence20201924

eQTL of rs964555 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 rs964555 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 )
chr1169623306169623372E068-47716
chr1169623306169623372E069-47716
chr1169663053169664067E071-7021
chr1169664116169664389E071-6699
chr1169623306169623372E074-47716
chr1169661474169662757E074-8331




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1169680599169681493E0679511
chr1169680599169681493E0689511
chr1169680599169681493E0699511
chr1169680599169681493E0719511
chr1169680599169681493E0729511
chr1169680599169681493E0739511
chr1169680599169681493E0749511