rs12736884

Organism: Homo sapiens

Alleles: G>C

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0040 (1201/29984,GnomAD)
C=0040 (1185/29118,TOPMED)
C=0021 (106/5008,1000G)
C=0062 (239/3854,ALSPAC)
C=0068 (251/3708,TWINSUK)

Position: chr1:21399012 (GRCh38.p7) (1p36.12)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 49 Enhancers around

Promoter: 58 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.21399012G>C
GRCh37.p13 chr 1	NC_000001.10:g.21725505G>C

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.998	C=0.002
1000Genomes	American	Sub	694	G=0.980	C=0.020
1000Genomes	East Asian	Sub	1008	G=1.000	C=0.000
1000Genomes	Europe	Sub	1006	G=0.937	C=0.063
1000Genomes	Global	Study-wide	5008	G=0.979	C=0.021
1000Genomes	South Asian	Sub	978	G=0.980	C=0.020
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.938	C=0.062
The Genome Aggregation Database	African	Sub	8730	G=0.989	C=0.011
The Genome Aggregation Database	American	Sub	836	G=0.970	C=0.030
The Genome Aggregation Database	East Asian	Sub	1622	G=1.000	C=0.000
The Genome Aggregation Database	Europe	Sub	18494	G=0.942	C=0.057
The Genome Aggregation Database	Global	Study-wide	29984	G=0.959	C=0.040
The Genome Aggregation Database	Other	Sub	302	G=0.940	C=0.060
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.959	C=0.040
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.932	C=0.068

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

P-Value

SNP ID	p-value	Traits	Study
rs12736884	0.00039	alcohol dependence	20201924

eQTL of rs12736884 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 rs12736884 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 )
chr1	21688075	21688143	E067	-37362
chr1	21688442	21688523	E067	-36982
chr1	21688683	21688846	E067	-36659
chr1	21688075	21688143	E068	-37362
chr1	21688442	21688523	E068	-36982
chr1	21688683	21688846	E068	-36659
chr1	21689224	21689285	E068	-36220
chr1	21689482	21689523	E068	-35982
chr1	21694904	21695449	E068	-30056
chr1	21688075	21688143	E069	-37362
chr1	21688442	21688523	E069	-36982
chr1	21688683	21688846	E069	-36659
chr1	21689224	21689285	E069	-36220
chr1	21694904	21695449	E069	-30056
chr1	21695472	21695762	E069	-29743
chr1	21765829	21765879	E069	40324
chr1	21688442	21688523	E070	-36982
chr1	21688683	21688846	E070	-36659
chr1	21689224	21689285	E070	-36220
chr1	21689482	21689523	E070	-35982
chr1	21724935	21724985	E070	-520
chr1	21676585	21676904	E071	-48601
chr1	21676915	21677039	E071	-48466
chr1	21677054	21677365	E071	-48140
chr1	21688075	21688143	E071	-37362
chr1	21688442	21688523	E071	-36982
chr1	21688683	21688846	E071	-36659
chr1	21689224	21689285	E071	-36220
chr1	21694768	21694833	E071	-30672
chr1	21688075	21688143	E072	-37362
chr1	21688442	21688523	E072	-36982
chr1	21688683	21688846	E072	-36659
chr1	21689224	21689285	E072	-36220
chr1	21688075	21688143	E073	-37362
chr1	21688442	21688523	E073	-36982
chr1	21688683	21688846	E073	-36659
chr1	21688075	21688143	E074	-37362
chr1	21688442	21688523	E074	-36982
chr1	21688683	21688846	E074	-36659
chr1	21689224	21689285	E074	-36220
chr1	21689482	21689523	E074	-35982
chr1	21688075	21688143	E081	-37362
chr1	21688442	21688523	E081	-36982
chr1	21688683	21688846	E081	-36659
chr1	21724274	21724674	E081	-831
chr1	21724935	21724985	E081	-520
chr1	21765829	21765879	E081	40324
chr1	21688075	21688143	E082	-37362
chr1	21688442	21688523	E082	-36982

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	21763020	21763352	E067	37515
chr1	21763437	21764150	E067	37932
chr1	21766182	21766898	E067	40677
chr1	21766942	21767066	E067	41437
chr1	21767141	21767221	E067	41636
chr1	21767297	21767701	E067	41792
chr1	21763020	21763352	E068	37515
chr1	21763437	21764150	E068	37932
chr1	21766182	21766898	E068	40677
chr1	21766942	21767066	E068	41437
chr1	21767141	21767221	E068	41636
chr1	21767297	21767701	E068	41792
chr1	21762851	21762920	E069	37346
chr1	21763020	21763352	E069	37515
chr1	21763437	21764150	E069	37932
chr1	21766182	21766898	E069	40677
chr1	21766942	21767066	E069	41437
chr1	21767141	21767221	E069	41636
chr1	21767297	21767701	E069	41792
chr1	21763020	21763352	E070	37515
chr1	21763437	21764150	E070	37932
chr1	21766182	21766898	E070	40677
chr1	21766942	21767066	E070	41437
chr1	21767141	21767221	E070	41636
chr1	21767297	21767701	E070	41792
chr1	21763020	21763352	E071	37515
chr1	21766182	21766898	E071	40677
chr1	21766942	21767066	E071	41437
chr1	21767141	21767221	E071	41636
chr1	21767297	21767701	E071	41792
chr1	21754779	21755001	E072	29274
chr1	21763020	21763352	E072	37515
chr1	21763437	21764150	E072	37932
chr1	21766182	21766898	E072	40677
chr1	21766942	21767066	E072	41437
chr1	21767141	21767221	E072	41636
chr1	21767297	21767701	E072	41792
chr1	21763020	21763352	E073	37515
chr1	21763437	21764150	E073	37932
chr1	21766182	21766898	E073	40677
chr1	21766942	21767066	E073	41437
chr1	21767141	21767221	E073	41636
chr1	21767297	21767701	E073	41792
chr1	21763020	21763352	E074	37515
chr1	21766182	21766898	E074	40677
chr1	21766942	21767066	E074	41437
chr1	21767141	21767221	E074	41636
chr1	21767297	21767701	E074	41792
chr1	21766182	21766898	E081	40677
chr1	21766942	21767066	E081	41437
chr1	21767141	21767221	E081	41636
chr1	21767297	21767701	E081	41792
chr1	21763020	21763352	E082	37515
chr1	21763437	21764150	E082	37932
chr1	21766182	21766898	E082	40677
chr1	21766942	21767066	E082	41437
chr1	21767141	21767221	E082	41636
chr1	21767297	21767701	E082	41792