rs7314267

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0173 (5162/29842,GnomAD)
A=0187 (5465/29118,TOPMED)
A=0223 (1118/5008,1000G)
A=0096 (370/3854,ALSPAC)
A=0095 (354/3708,TWINSUK)

Position: chr12:75898108 (GRCh38.p7) (12q21.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 69 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.75898108G>A
GRCh37.p13 chr 12	NC_000012.11:g.76291888G>A

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.657	A=0.343
1000Genomes	American	Sub	694	G=0.930	A=0.070
1000Genomes	East Asian	Sub	1008	G=0.696	A=0.304
1000Genomes	Europe	Sub	1006	G=0.908	A=0.092
1000Genomes	Global	Study-wide	5008	G=0.777	A=0.223
1000Genomes	South Asian	Sub	978	G=0.780	A=0.220
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.904	A=0.096
The Genome Aggregation Database	African	Sub	8676	G=0.693	A=0.307
The Genome Aggregation Database	American	Sub	838	G=0.940	A=0.060
The Genome Aggregation Database	East Asian	Sub	1612	G=0.641	A=0.359
The Genome Aggregation Database	Europe	Sub	18414	G=0.899	A=0.100
The Genome Aggregation Database	Global	Study-wide	29842	G=0.827	A=0.173
The Genome Aggregation Database	Other	Sub	302	G=0.950	A=0.050
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.812	A=0.187
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.905	A=0.095

PMID	Title	Author	Journal
21529783	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Heath AC	Biol Psychiatry

P-Value

SNP ID	p-value	Traits	Study
rs7314267	4.1E-05	alcoholism (heaviness of drinking)	21529783

eQTL of rs7314267 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 rs7314267 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 )
chr12	76243240	76243290	E067	-48598
chr12	76283474	76283662	E067	-8226
chr12	76283673	76283794	E067	-8094
chr12	76294137	76294430	E067	2249
chr12	76294466	76294749	E067	2578
chr12	76270514	76272644	E068	-19244
chr12	76277080	76277130	E068	-14758
chr12	76283805	76283892	E068	-7996
chr12	76284022	76284243	E068	-7645
chr12	76302313	76304443	E068	10425
chr12	76283673	76283794	E069	-8094
chr12	76283805	76283892	E069	-7996
chr12	76243240	76243290	E070	-48598
chr12	76243830	76243922	E070	-47966
chr12	76244292	76244419	E070	-47469
chr12	76244454	76245069	E070	-46819
chr12	76245078	76245195	E070	-46693
chr12	76245218	76245558	E070	-46330
chr12	76246570	76247077	E070	-44811
chr12	76247282	76247852	E070	-44036
chr12	76262334	76262668	E070	-29220
chr12	76270211	76270274	E070	-21614
chr12	76270514	76272644	E070	-19244
chr12	76276610	76276688	E070	-15200
chr12	76277080	76277130	E070	-14758
chr12	76277185	76277298	E070	-14590
chr12	76283474	76283662	E070	-8226
chr12	76283673	76283794	E070	-8094
chr12	76283805	76283892	E070	-7996
chr12	76284022	76284243	E070	-7645
chr12	76284575	76284672	E070	-7216
chr12	76293913	76294032	E070	2025
chr12	76294137	76294430	E070	2249
chr12	76294466	76294749	E070	2578
chr12	76294815	76294894	E070	2927
chr12	76294944	76295064	E070	3056
chr12	76243240	76243290	E071	-48598
chr12	76283474	76283662	E071	-8226
chr12	76283673	76283794	E071	-8094
chr12	76283805	76283892	E071	-7996
chr12	76284022	76284243	E071	-7645
chr12	76284575	76284672	E071	-7216
chr12	76284697	76284918	E071	-6970
chr12	76302313	76304443	E071	10425
chr12	76281867	76281970	E072	-9918
chr12	76283673	76283794	E072	-8094
chr12	76258784	76258861	E074	-33027
chr12	76283474	76283662	E074	-8226
chr12	76283673	76283794	E074	-8094
chr12	76283805	76283892	E074	-7996
chr12	76294137	76294430	E074	2249
chr12	76294466	76294749	E074	2578
chr12	76302313	76304443	E074	10425
chr12	76270514	76272644	E081	-19244
chr12	76272678	76272790	E081	-19098
chr12	76275790	76276028	E081	-15860
chr12	76276150	76276409	E081	-15479
chr12	76276610	76276688	E081	-15200
chr12	76282268	76282359	E081	-9529
chr12	76282808	76283384	E081	-8504
chr12	76283474	76283662	E081	-8226
chr12	76283805	76283892	E081	-7996
chr12	76284022	76284243	E081	-7645
chr12	76331935	76332612	E081	40047
chr12	76270514	76272644	E082	-19244
chr12	76283474	76283662	E082	-8226
chr12	76283673	76283794	E082	-8094
chr12	76294137	76294430	E082	2249
chr12	76294466	76294749	E082	2578