SNP Detail Info-rs932307

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

SELE : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0322 (39138/121346,ExAC)
A=0299 (8949/29932,GnomAD)
A=0307 (8945/29118,TOPMED)
G==0281 (3661/13006,GO-ESP)
A=0384 (1922/5008,1000G)
A=0243 (938/3854,ALSPAC)
A=0230 (854/3708,TWINSUK)

Position: chr1:169733564 (GRCh38.p7) (1q24.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 2 publication(s)

Genomic View: See rs on genome

Enhancer: 3 Enhancers around

Promoter: 7 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.169733564G>A
GRCh37.p13 chr 1	NC_000001.10:g.169702705G>A
SELE RefSeqGene	NG_012124.1:g.5516C>T

Gene: SELE, selectin E(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SELE transcript	NM_000450.2:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.630	A=0.370
1000Genomes	American	Sub	694	G=0.610	A=0.390
1000Genomes	East Asian	Sub	1008	G=0.492	A=0.508
1000Genomes	Europe	Sub	1006	G=0.717	A=0.283
1000Genomes	Global	Study-wide	5008	G=0.616	A=0.384
1000Genomes	South Asian	Sub	978	G=0.620	A=0.380
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.757	A=0.243
The Exome Aggregation Consortium	American	Sub	21974	G=0.592	A=0.407
The Exome Aggregation Consortium	Asian	Sub	25138	G=0.586	A=0.413
The Exome Aggregation Consortium	Europe	Sub	73326	G=0.734	A=0.265
The Exome Aggregation Consortium	Global	Study-wide	121346	G=0.677	A=0.322
The Exome Aggregation Consortium	Other	Sub	908	G=0.650	A=0.350
The Genome Aggregation Database	African	Sub	8710	G=0.655	A=0.345
The Genome Aggregation Database	American	Sub	838	G=0.570	A=0.430
The Genome Aggregation Database	East Asian	Sub	1610	G=0.546	A=0.454
The Genome Aggregation Database	Europe	Sub	18472	G=0.742	A=0.257
The Genome Aggregation Database	Global	Study-wide	29932	G=0.701	A=0.299
The Genome Aggregation Database	Other	Sub	302	G=0.690	A=0.310
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.692	A=0.307
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.770	A=0.230

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res
19996987	Blood pressure response to potassium supplementation is associated with genetic variation in endothelin 1 and interactions with E selectin in rural Chinese.	Montasser ME	J Hypertens

P-Value

SNP ID	p-value	Traits	Study
rs932307	0.000396	alcohol dependence	20201924

eQTL of rs932307 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr1:169702705	RN7SL333P	ENSG00000239494.2	G>A	3.6310e-3	-126192	Cerebellar_Hemisphere

meQTL of rs932307 in Fetal Brain

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr1	169663053	169664067	E071	-38638
chr1	169664116	169664389	E071	-38316
chr1	169661474	169662757	E074	-39948

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	169680599	169681493	E067	-21212
chr1	169680599	169681493	E068	-21212
chr1	169680599	169681493	E069	-21212
chr1	169680599	169681493	E071	-21212
chr1	169680599	169681493	E072	-21212
chr1	169680599	169681493	E073	-21212
chr1	169680599	169681493	E074	-21212

rs932307

Genomic Coordinates

Gene: SELE, selectin E(minus strand)

Population Frequency

P-Value

eQTL of rs932307 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs932307 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Promoter Annotation (GRCh37.p13)