rs8043322

Organism: Homo sapiens

Alleles: A>C

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0399 (11965/29944,GnomAD)
A==0454 (13221/29118,TOPMED)
C=0466 (2336/5008,1000G)
A==0247 (952/3854,ALSPAC)
A==0246 (912/3708,TWINSUK)

Position: chr15:81792593 (GRCh38.p7) (15q25.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 71 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 15	NC_000015.10:g.81792593A>C
GRCh37.p13 chr 15	NC_000015.9:g.82084934A>C

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.690	C=0.310
1000Genomes	American	Sub	694	A=0.530	C=0.470
1000Genomes	East Asian	Sub	1008	A=0.770	C=0.230
1000Genomes	Europe	Sub	1006	A=0.249	C=0.751
1000Genomes	Global	Study-wide	5008	A=0.534	C=0.466
1000Genomes	South Asian	Sub	978	A=0.380	C=0.620
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.247	C=0.753
The Genome Aggregation Database	African	Sub	8708	A=0.643	C=0.357
The Genome Aggregation Database	American	Sub	838	A=0.560	C=0.440
The Genome Aggregation Database	East Asian	Sub	1618	A=0.798	C=0.202
The Genome Aggregation Database	Europe	Sub	18478	A=0.244	C=0.755
The Genome Aggregation Database	Global	Study-wide	29944	A=0.399	C=0.600
The Genome Aggregation Database	Other	Sub	302	A=0.280	C=0.720
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.454	C=0.546
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.246	C=0.754

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
rs8043322	7.1E-05	alcohol consumption (maxi-drinks)	24277619

eQTL of rs8043322 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 rs8043322 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 )
chr15	82042931	82043001	E067	-41933
chr15	82043144	82043197	E067	-41737
chr15	82044827	82045694	E067	-39240
chr15	82044827	82045694	E068	-39240
chr15	82042576	82042676	E069	-42258
chr15	82042704	82042779	E069	-42155
chr15	82042931	82043001	E069	-41933
chr15	82043144	82043197	E069	-41737
chr15	82043433	82044117	E069	-40817
chr15	82044148	82044437	E069	-40497
chr15	82044447	82044595	E069	-40339
chr15	82044609	82044790	E069	-40144
chr15	82042931	82043001	E070	-41933
chr15	82043144	82043197	E070	-41737
chr15	82044148	82044437	E070	-40497
chr15	82044827	82045694	E070	-39240
chr15	82045770	82045835	E070	-39099
chr15	82045932	82046149	E070	-38785
chr15	82046492	82046681	E070	-38253
chr15	82046777	82047016	E070	-37918
chr15	82047018	82047130	E070	-37804
chr15	82047163	82047258	E070	-37676
chr15	82042130	82042443	E071	-42491
chr15	82042576	82042676	E071	-42258
chr15	82042704	82042779	E071	-42155
chr15	82042931	82043001	E071	-41933
chr15	82043144	82043197	E071	-41737
chr15	82043433	82044117	E071	-40817
chr15	82044148	82044437	E071	-40497
chr15	82044447	82044595	E071	-40339
chr15	82044609	82044790	E071	-40144
chr15	82044827	82045694	E071	-39240
chr15	82041961	82042088	E072	-42846
chr15	82042130	82042443	E072	-42491
chr15	82042576	82042676	E072	-42258
chr15	82042704	82042779	E072	-42155
chr15	82042931	82043001	E072	-41933
chr15	82042130	82042443	E073	-42491
chr15	82042576	82042676	E073	-42258
chr15	82042704	82042779	E073	-42155
chr15	82042931	82043001	E073	-41933
chr15	82043144	82043197	E073	-41737
chr15	82044827	82045694	E073	-39240
chr15	82045770	82045835	E073	-39099
chr15	82044609	82044790	E074	-40144
chr15	82044827	82045694	E074	-39240
chr15	82041961	82042088	E081	-42846
chr15	82042130	82042443	E081	-42491
chr15	82042576	82042676	E081	-42258
chr15	82042704	82042779	E081	-42155
chr15	82042931	82043001	E081	-41933
chr15	82043144	82043197	E081	-41737
chr15	82043433	82044117	E081	-40817
chr15	82044148	82044437	E081	-40497
chr15	82044447	82044595	E081	-40339
chr15	82044609	82044790	E081	-40144
chr15	82044827	82045694	E081	-39240
chr15	82045770	82045835	E081	-39099
chr15	82045932	82046149	E081	-38785
chr15	82105605	82106233	E081	20671
chr15	82041961	82042088	E082	-42846
chr15	82043144	82043197	E082	-41737
chr15	82044148	82044437	E082	-40497
chr15	82044447	82044595	E082	-40339
chr15	82044609	82044790	E082	-40144
chr15	82045770	82045835	E082	-39099
chr15	82045932	82046149	E082	-38785
chr15	82046492	82046681	E082	-38253
chr15	82046777	82047016	E082	-37918
chr15	82047018	82047130	E082	-37804
chr15	82047163	82047258	E082	-37676