rs736534

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0056 (1679/29984,GnomAD)
A=0047 (1382/29118,TOPMED)
A=0168 (843/5008,1000G)
A=0003 (13/3854,ALSPAC)
A=0002 (9/3708,TWINSUK)

Position: chr12:111826996 (GRCh38.p7) (12q24.12)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 89 Enhancers around

Promoter: 9 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.111826996G>A
GRCh37.p13 chr 12	NC_000012.11:g.112264800G>A

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.943	A=0.057
1000Genomes	American	Sub	694	G=0.860	A=0.140
1000Genomes	East Asian	Sub	1008	G=0.424	A=0.576
1000Genomes	Europe	Sub	1006	G=0.998	A=0.002
1000Genomes	Global	Study-wide	5008	G=0.832	A=0.168
1000Genomes	South Asian	Sub	978	G=0.910	A=0.090
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.997	A=0.003
The Genome Aggregation Database	African	Sub	8730	G=0.947	A=0.053
The Genome Aggregation Database	American	Sub	838	G=0.820	A=0.180
The Genome Aggregation Database	East Asian	Sub	1610	G=0.380	A=0.620
The Genome Aggregation Database	Europe	Sub	18504	G=0.996	A=0.003
The Genome Aggregation Database	Global	Study-wide	29984	G=0.944	A=0.056
The Genome Aggregation Database	Other	Sub	302	G=1.000	A=0.000
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.952	A=0.047
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.998	A=0.002

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
rs736534	0.000858	alcohol consumption (maxi-drinks)	24277619

eQTL of rs736534 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 rs736534 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	112214875	112215915	E067	-48885
chr12	112226052	112226466	E067	-38334
chr12	112250781	112251588	E067	-13212
chr12	112277752	112277915	E067	12952
chr12	112278075	112278149	E067	13275
chr12	112281800	112281856	E067	17000
chr12	112282228	112282278	E067	17428
chr12	112282350	112282404	E067	17550
chr12	112282773	112282823	E067	17973
chr12	112282990	112283030	E067	18190
chr12	112283223	112283273	E067	18423
chr12	112283296	112283369	E067	18496
chr12	112283860	112284229	E067	19060
chr12	112307607	112307692	E067	42807
chr12	112250781	112251588	E068	-13212
chr12	112281800	112281856	E068	17000
chr12	112282228	112282278	E068	17428
chr12	112282350	112282404	E068	17550
chr12	112282773	112282823	E068	17973
chr12	112282990	112283030	E068	18190
chr12	112226052	112226466	E069	-38334
chr12	112250781	112251588	E069	-13212
chr12	112277752	112277915	E069	12952
chr12	112278075	112278149	E069	13275
chr12	112282350	112282404	E069	17550
chr12	112282773	112282823	E069	17973
chr12	112282990	112283030	E069	18190
chr12	112256486	112256526	E070	-8274
chr12	112257111	112257217	E070	-7583
chr12	112257250	112258148	E070	-6652
chr12	112258245	112258347	E070	-6453
chr12	112277649	112277701	E070	12849
chr12	112277752	112277915	E070	12952
chr12	112281800	112281856	E070	17000
chr12	112282228	112282278	E070	17428
chr12	112282350	112282404	E070	17550
chr12	112282773	112282823	E070	17973
chr12	112226052	112226466	E071	-38334
chr12	112250781	112251588	E071	-13212
chr12	112281800	112281856	E071	17000
chr12	112282228	112282278	E071	17428
chr12	112282350	112282404	E071	17550
chr12	112282773	112282823	E071	17973
chr12	112282990	112283030	E071	18190
chr12	112305536	112305610	E071	40736
chr12	112305660	112305710	E071	40860
chr12	112306121	112306206	E071	41321
chr12	112226052	112226466	E072	-38334
chr12	112250781	112251588	E072	-13212
chr12	112281800	112281856	E072	17000
chr12	112282228	112282278	E072	17428
chr12	112282350	112282404	E072	17550
chr12	112282773	112282823	E072	17973
chr12	112282990	112283030	E072	18190
chr12	112214875	112215915	E073	-48885
chr12	112244239	112244304	E073	-20496
chr12	112250781	112251588	E073	-13212
chr12	112277649	112277701	E073	12849
chr12	112277752	112277915	E073	12952
chr12	112278075	112278149	E073	13275
chr12	112282350	112282404	E073	17550
chr12	112282773	112282823	E073	17973
chr12	112214875	112215915	E074	-48885
chr12	112225114	112225224	E074	-39576
chr12	112225257	112225450	E074	-39350
chr12	112250781	112251588	E074	-13212
chr12	112281800	112281856	E074	17000
chr12	112282228	112282278	E074	17428
chr12	112282350	112282404	E074	17550
chr12	112282773	112282823	E074	17973
chr12	112282990	112283030	E074	18190
chr12	112283860	112284229	E074	19060
chr12	112305660	112305710	E074	40860
chr12	112277649	112277701	E081	12849
chr12	112277752	112277915	E081	12952
chr12	112278075	112278149	E081	13275
chr12	112281800	112281856	E081	17000
chr12	112282228	112282278	E081	17428
chr12	112282350	112282404	E081	17550
chr12	112282773	112282823	E081	17973
chr12	112272767	112273138	E082	7967
chr12	112277409	112277512	E082	12609
chr12	112281800	112281856	E082	17000
chr12	112282228	112282278	E082	17428
chr12	112282350	112282404	E082	17550
chr12	112282773	112282823	E082	17973
chr12	112282990	112283030	E082	18190
chr12	112283223	112283273	E082	18423
chr12	112283296	112283369	E082	18496

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr12	112278853	112281024	E067	14053
chr12	112278853	112281024	E068	14053
chr12	112278853	112281024	E069	14053
chr12	112278853	112281024	E070	14053
chr12	112278853	112281024	E071	14053
chr12	112278853	112281024	E072	14053
chr12	112278853	112281024	E073	14053
chr12	112278853	112281024	E074	14053
chr12	112278853	112281024	E082	14053