rs7971457

Organism: Homo sapiens

Alleles: T>C

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0177 (5320/29918,GnomAD)
C=0174 (5075/29118,TOPMED)
C=0201 (1007/5008,1000G)
C=0262 (1009/3854,ALSPAC)
C=0250 (928/3708,TWINSUK)

Position: chr12:114178002 (GRCh38.p7) (12q24.21)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 87 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.114178002T>C
GRCh37.p13 chr 12	NC_000012.11:g.114615807T>C

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.939	C=0.061
1000Genomes	American	Sub	694	T=0.610	C=0.390
1000Genomes	East Asian	Sub	1008	T=0.907	C=0.093
1000Genomes	Europe	Sub	1006	T=0.764	C=0.236
1000Genomes	Global	Study-wide	5008	T=0.799	C=0.201
1000Genomes	South Asian	Sub	978	T=0.670	C=0.330
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.738	C=0.262
The Genome Aggregation Database	African	Sub	8714	T=0.907	C=0.093
The Genome Aggregation Database	American	Sub	834	T=0.680	C=0.320
The Genome Aggregation Database	East Asian	Sub	1612	T=0.918	C=0.082
The Genome Aggregation Database	Europe	Sub	18456	T=0.780	C=0.219
The Genome Aggregation Database	Global	Study-wide	29918	T=0.822	C=0.177
The Genome Aggregation Database	Other	Sub	302	T=0.800	C=0.200
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.825	C=0.174
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.750	C=0.250

PMID	Title	Author	Journal
24277619	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Quillen EE	Am J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID	p-value	Traits	Study
rs7971457	0.000717	alcohol dependence	24277619

eQTL of rs7971457 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 rs7971457 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	114603964	114604047	E067	-11760
chr12	114604069	114604180	E067	-11627
chr12	114605076	114605596	E067	-10211
chr12	114605684	114606310	E067	-9497
chr12	114603964	114604047	E068	-11760
chr12	114604069	114604180	E068	-11627
chr12	114604272	114604510	E068	-11297
chr12	114604525	114604607	E068	-11200
chr12	114605076	114605596	E068	-10211
chr12	114605684	114606310	E068	-9497
chr12	114606519	114606571	E068	-9236
chr12	114606645	114606695	E068	-9112
chr12	114606789	114606843	E068	-8964
chr12	114623556	114623606	E068	7749
chr12	114623866	114624195	E068	8059
chr12	114624230	114624356	E068	8423
chr12	114624395	114624975	E068	8588
chr12	114625084	114625144	E068	9277
chr12	114625397	114625447	E068	9590
chr12	114603781	114603831	E069	-11976
chr12	114603964	114604047	E069	-11760
chr12	114604069	114604180	E069	-11627
chr12	114604272	114604510	E069	-11297
chr12	114604525	114604607	E069	-11200
chr12	114605076	114605596	E069	-10211
chr12	114605684	114606310	E069	-9497
chr12	114606519	114606571	E069	-9236
chr12	114622850	114623179	E069	7043
chr12	114623220	114623363	E069	7413
chr12	114623556	114623606	E069	7749
chr12	114623866	114624195	E069	8059
chr12	114624230	114624356	E069	8423
chr12	114624395	114624975	E069	8588
chr12	114625084	114625144	E069	9277
chr12	114625397	114625447	E069	9590
chr12	114651874	114651951	E069	36067
chr12	114604272	114604510	E071	-11297
chr12	114604525	114604607	E071	-11200
chr12	114605076	114605596	E071	-10211
chr12	114605684	114606310	E071	-9497
chr12	114606519	114606571	E071	-9236
chr12	114606645	114606695	E071	-9112
chr12	114606789	114606843	E071	-8964
chr12	114621736	114621910	E071	5929
chr12	114621918	114622017	E071	6111
chr12	114622850	114623179	E071	7043
chr12	114623220	114623363	E071	7413
chr12	114623556	114623606	E071	7749
chr12	114623866	114624195	E071	8059
chr12	114624230	114624356	E071	8423
chr12	114624395	114624975	E071	8588
chr12	114625084	114625144	E071	9277
chr12	114625397	114625447	E071	9590
chr12	114603781	114603831	E072	-11976
chr12	114603964	114604047	E072	-11760
chr12	114604069	114604180	E072	-11627
chr12	114604272	114604510	E072	-11297
chr12	114604525	114604607	E072	-11200
chr12	114605076	114605596	E072	-10211
chr12	114605684	114606310	E072	-9497
chr12	114606519	114606571	E072	-9236
chr12	114622850	114623179	E072	7043
chr12	114623220	114623363	E072	7413
chr12	114623556	114623606	E072	7749
chr12	114623866	114624195	E072	8059
chr12	114624230	114624356	E072	8423
chr12	114624395	114624975	E072	8588
chr12	114605684	114606310	E073	-9497
chr12	114623866	114624195	E073	8059
chr12	114624230	114624356	E073	8423
chr12	114603781	114603831	E074	-11976
chr12	114603964	114604047	E074	-11760
chr12	114604069	114604180	E074	-11627
chr12	114604272	114604510	E074	-11297
chr12	114604525	114604607	E074	-11200
chr12	114605076	114605596	E074	-10211
chr12	114605684	114606310	E074	-9497
chr12	114606519	114606571	E074	-9236
chr12	114606645	114606695	E074	-9112
chr12	114606789	114606843	E074	-8964
chr12	114623220	114623363	E074	7413
chr12	114623556	114623606	E074	7749
chr12	114623866	114624195	E074	8059
chr12	114624230	114624356	E074	8423
chr12	114624395	114624975	E074	8588
chr12	114625084	114625144	E074	9277
chr12	114651874	114651951	E081	36067