rs2651251

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C==0168 (5006/29794,GnomAD)
C==0166 (4838/29118,TOPMED)
C==0207 (1037/5008,1000G)
C==0196 (756/3854,ALSPAC)
C==0200 (743/3708,TWINSUK)

Position: chr12:101275238 (GRCh38.p7) (12q23.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 13 Enhancers around

Promoter: 69 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.101275238C>T
GRCh37.p13 chr 12	NC_000012.11:g.101669016C>T

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.047	T=0.953
1000Genomes	American	Sub	694	C=0.260	T=0.740
1000Genomes	East Asian	Sub	1008	C=0.373	T=0.627
1000Genomes	Europe	Sub	1006	C=0.206	T=0.794
1000Genomes	Global	Study-wide	5008	C=0.207	T=0.793
1000Genomes	South Asian	Sub	978	C=0.220	T=0.780
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.196	T=0.804
The Genome Aggregation Database	African	Sub	8694	C=0.070	T=0.930
The Genome Aggregation Database	American	Sub	838	C=0.280	T=0.720
The Genome Aggregation Database	East Asian	Sub	1602	C=0.360	T=0.640
The Genome Aggregation Database	Europe	Sub	18358	C=0.191	T=0.808
The Genome Aggregation Database	Global	Study-wide	29794	C=0.168	T=0.832
The Genome Aggregation Database	Other	Sub	302	C=0.250	T=0.750
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.166	T=0.833
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.200	T=0.800

PMID	Title	Author	Journal
24962325	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Kapoor M	Drug Alcohol Depend

P-Value

SNP ID	p-value	Traits	Study
rs2651251	7.49E-06	alcohol dependence (age at onset)	24962325

eQTL of rs2651251 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 rs2651251 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	101691390	101691641	E067	22374
chr12	101692002	101692211	E067	22986
chr12	101692243	101692491	E067	23227
chr12	101692002	101692211	E069	22986
chr12	101692243	101692491	E069	23227
chr12	101684127	101684167	E071	15111
chr12	101691390	101691641	E071	22374
chr12	101691390	101691641	E072	22374
chr12	101692002	101692211	E072	22986
chr12	101632145	101633097	E081	-35919
chr12	101633155	101633205	E081	-35811
chr12	101632145	101633097	E082	-35919
chr12	101633155	101633205	E082	-35811

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr12	101673164	101673326	E067	4148
chr12	101673369	101673461	E067	4353
chr12	101673570	101674315	E067	4554
chr12	101674460	101674520	E067	5444
chr12	101674561	101674663	E067	5545
chr12	101692853	101693016	E067	23837
chr12	101693076	101693399	E067	24060
chr12	101693724	101694082	E067	24708
chr12	101673164	101673326	E068	4148
chr12	101673369	101673461	E068	4353
chr12	101673570	101674315	E068	4554
chr12	101674460	101674520	E068	5444
chr12	101674561	101674663	E068	5545
chr12	101692853	101693016	E068	23837
chr12	101693076	101693399	E068	24060
chr12	101673164	101673326	E069	4148
chr12	101673369	101673461	E069	4353
chr12	101673570	101674315	E069	4554
chr12	101674460	101674520	E069	5444
chr12	101674561	101674663	E069	5545
chr12	101692853	101693016	E069	23837
chr12	101693076	101693399	E069	24060
chr12	101693724	101694082	E069	24708
chr12	101673164	101673326	E070	4148
chr12	101673369	101673461	E070	4353
chr12	101673570	101674315	E070	4554
chr12	101674460	101674520	E070	5444
chr12	101674561	101674663	E070	5545
chr12	101673056	101673115	E071	4040
chr12	101673121	101673150	E071	4105
chr12	101673164	101673326	E071	4148
chr12	101673369	101673461	E071	4353
chr12	101673570	101674315	E071	4554
chr12	101674460	101674520	E071	5444
chr12	101674561	101674663	E071	5545
chr12	101692853	101693016	E071	23837
chr12	101693076	101693399	E071	24060
chr12	101693724	101694082	E071	24708
chr12	101673164	101673326	E072	4148
chr12	101673369	101673461	E072	4353
chr12	101673570	101674315	E072	4554
chr12	101674460	101674520	E072	5444
chr12	101674561	101674663	E072	5545
chr12	101692853	101693016	E072	23837
chr12	101693076	101693399	E072	24060
chr12	101673164	101673326	E073	4148
chr12	101673369	101673461	E073	4353
chr12	101673570	101674315	E073	4554
chr12	101674460	101674520	E073	5444
chr12	101674561	101674663	E073	5545
chr12	101673164	101673326	E074	4148
chr12	101673369	101673461	E074	4353
chr12	101673570	101674315	E074	4554
chr12	101674460	101674520	E074	5444
chr12	101674561	101674663	E074	5545
chr12	101692853	101693016	E074	23837
chr12	101693076	101693399	E074	24060
chr12	101693724	101694082	E074	24708
chr12	101673369	101673461	E081	4353
chr12	101673570	101674315	E081	4554
chr12	101674460	101674520	E081	5444
chr12	101674561	101674663	E081	5545
chr12	101673056	101673115	E082	4040
chr12	101673121	101673150	E082	4105
chr12	101673164	101673326	E082	4148
chr12	101673369	101673461	E082	4353
chr12	101673570	101674315	E082	4554
chr12	101674460	101674520	E082	5444
chr12	101674561	101674663	E082	5545