rs10496665

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0076 (2300/29982,GnomAD)
G=0111 (3239/29118,TOPMED)
G=0090 (451/5008,1000G)
G=0005 (20/3854,ALSPAC)
G=0003 (10/3708,TWINSUK)

Position: chr2:127910983 (GRCh38.p7) (2q14.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 51 Enhancers around

Promoter: 66 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.127910983A>G
GRCh37.p13 chr 2	NC_000002.11:g.128668557A>G

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.680	G=0.320
1000Genomes	American	Sub	694	A=0.970	G=0.030
1000Genomes	East Asian	Sub	1008	A=1.000	G=0.000
1000Genomes	Europe	Sub	1006	A=0.996	G=0.004
1000Genomes	Global	Study-wide	5008	A=0.910	G=0.090
1000Genomes	South Asian	Sub	978	A=1.000	G=0.000
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.995	G=0.005
The Genome Aggregation Database	African	Sub	8710	A=0.751	G=0.249
The Genome Aggregation Database	American	Sub	838	A=0.970	G=0.030
The Genome Aggregation Database	East Asian	Sub	1620	A=0.999	G=0.001
The Genome Aggregation Database	Europe	Sub	18512	A=0.994	G=0.005
The Genome Aggregation Database	Global	Study-wide	29982	A=0.923	G=0.076
The Genome Aggregation Database	Other	Sub	302	A=1.000	G=0.000
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.888	G=0.111
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.997	G=0.003

PMID	Title	Author	Journal

P-Value

SNP ID	p-value	Traits	Study
rs10496665	1.39E-12	alcohol consumption	pha001402

eQTL of rs10496665 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 rs10496665 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 )
chr2	128645296	128645678	E067	-22879
chr2	128645737	128645844	E067	-22713
chr2	128710668	128711444	E067	42111
chr2	128711528	128711628	E067	42971
chr2	128711721	128711851	E067	43164
chr2	128632058	128632128	E068	-36429
chr2	128632584	128632737	E068	-35820
chr2	128645296	128645678	E068	-22879
chr2	128645737	128645844	E068	-22713
chr2	128645848	128646014	E068	-22543
chr2	128710132	128710425	E068	41575
chr2	128710555	128710605	E068	41998
chr2	128710668	128711444	E068	42111
chr2	128711528	128711628	E068	42971
chr2	128632584	128632737	E069	-35820
chr2	128645296	128645678	E069	-22879
chr2	128645737	128645844	E069	-22713
chr2	128645848	128646014	E069	-22543
chr2	128659144	128659578	E069	-8979
chr2	128710132	128710425	E069	41575
chr2	128710555	128710605	E069	41998
chr2	128710668	128711444	E069	42111
chr2	128711528	128711628	E069	42971
chr2	128711721	128711851	E069	43164
chr2	128712553	128712678	E069	43996
chr2	128645296	128645678	E070	-22879
chr2	128645737	128645844	E070	-22713
chr2	128645848	128646014	E070	-22543
chr2	128645296	128645678	E071	-22879
chr2	128645737	128645844	E071	-22713
chr2	128659144	128659578	E071	-8979
chr2	128710668	128711444	E071	42111
chr2	128711528	128711628	E071	42971
chr2	128711721	128711851	E071	43164
chr2	128710668	128711444	E072	42111
chr2	128711528	128711628	E072	42971
chr2	128645296	128645678	E073	-22879
chr2	128645737	128645844	E073	-22713
chr2	128645848	128646014	E073	-22543
chr2	128646393	128646495	E073	-22062
chr2	128646578	128646618	E073	-21939
chr2	128646667	128646725	E073	-21832
chr2	128645296	128645678	E074	-22879
chr2	128645737	128645844	E074	-22713
chr2	128645848	128646014	E074	-22543
chr2	128710668	128711444	E074	42111
chr2	128711528	128711628	E074	42971
chr2	128711721	128711851	E074	43164
chr2	128638052	128638102	E082	-30455
chr2	128645296	128645678	E082	-22879
chr2	128645737	128645844	E082	-22713

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr2	128642713	128642805	E067	-25752
chr2	128642870	128642930	E067	-25627
chr2	128643912	128644166	E067	-24391
chr2	128644239	128644343	E067	-24214
chr2	128644415	128644477	E067	-24080
chr2	128642713	128642805	E068	-25752
chr2	128642870	128642930	E068	-25627
chr2	128643007	128643091	E068	-25466
chr2	128643179	128643249	E068	-25308
chr2	128643476	128643586	E068	-24971
chr2	128643641	128643791	E068	-24766
chr2	128643912	128644166	E068	-24391
chr2	128644239	128644343	E068	-24214
chr2	128644415	128644477	E068	-24080
chr2	128642713	128642805	E069	-25752
chr2	128642870	128642930	E069	-25627
chr2	128643007	128643091	E069	-25466
chr2	128643179	128643249	E069	-25308
chr2	128643476	128643586	E069	-24971
chr2	128643641	128643791	E069	-24766
chr2	128643912	128644166	E069	-24391
chr2	128644239	128644343	E069	-24214
chr2	128644415	128644477	E069	-24080
chr2	128642713	128642805	E070	-25752
chr2	128642870	128642930	E070	-25627
chr2	128643007	128643091	E070	-25466
chr2	128643179	128643249	E070	-25308
chr2	128643476	128643586	E070	-24971
chr2	128643641	128643791	E070	-24766
chr2	128643912	128644166	E070	-24391
chr2	128644239	128644343	E070	-24214
chr2	128644415	128644477	E070	-24080
chr2	128642713	128642805	E071	-25752
chr2	128642870	128642930	E071	-25627
chr2	128643007	128643091	E071	-25466
chr2	128643179	128643249	E071	-25308
chr2	128643476	128643586	E071	-24971
chr2	128643641	128643791	E071	-24766
chr2	128643912	128644166	E071	-24391
chr2	128644239	128644343	E071	-24214
chr2	128644415	128644477	E071	-24080
chr2	128642713	128642805	E072	-25752
chr2	128642870	128642930	E072	-25627
chr2	128643912	128644166	E072	-24391
chr2	128644239	128644343	E072	-24214
chr2	128644415	128644477	E072	-24080
chr2	128642713	128642805	E073	-25752
chr2	128642870	128642930	E073	-25627
chr2	128643912	128644166	E073	-24391
chr2	128644239	128644343	E073	-24214
chr2	128644415	128644477	E073	-24080
chr2	128642713	128642805	E074	-25752
chr2	128642870	128642930	E074	-25627
chr2	128643912	128644166	E074	-24391
chr2	128644239	128644343	E074	-24214
chr2	128644415	128644477	E074	-24080
chr2	128642713	128642805	E081	-25752
chr2	128642713	128642805	E082	-25752
chr2	128642870	128642930	E082	-25627
chr2	128643007	128643091	E082	-25466
chr2	128643179	128643249	E082	-25308
chr2	128643476	128643586	E082	-24971
chr2	128643641	128643791	E082	-24766
chr2	128643912	128644166	E082	-24391
chr2	128644239	128644343	E082	-24214
chr2	128644415	128644477	E082	-24080