rs942950

Organism: Homo sapiens

Alleles: T>A / T>C

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T==0347 (10378/29896,GnomAD)
T==0367 (1837/5008,1000G)
T==0238 (917/3854,ALSPAC)
T==0217 (804/3708,TWINSUK)

Position: chr10:130017410 (GRCh38.p7) (10q26.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 45 Enhancers around

Promoter: 3 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 10	NC_000010.11:g.130017410T>A
GRCh38.p7 chr 10	NC_000010.11:g.130017410T>C
GRCh37.p13 chr 10	NC_000010.10:g.131815674T>A
GRCh37.p13 chr 10	NC_000010.10:g.131815674T>C

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.787	C=0.213
1000Genomes	American	Sub	694	T=0.300	C=0.700
1000Genomes	East Asian	Sub	1008	T=0.175	C=0.825
1000Genomes	Europe	Sub	1006	T=0.231	C=0.769
1000Genomes	Global	Study-wide	5008	T=0.367	C=0.633
1000Genomes	South Asian	Sub	978	T=0.190	C=0.810
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.238	C=0.762
The Genome Aggregation Database	African	Sub	8684	T=0.719	A=0.000
The Genome Aggregation Database	American	Sub	838	T=0.210	A=0.00,
The Genome Aggregation Database	East Asian	Sub	1618	T=0.156	A=0.000
The Genome Aggregation Database	Europe	Sub	18454	T=0.197	A=0.000
The Genome Aggregation Database	Global	Study-wide	29896	T=0.347	A=0.000
The Genome Aggregation Database	Other	Sub	302	T=0.190	A=0.00,
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.217	C=0.783

PMID	Title	Author	Journal
21314694	Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.	Kendler KS	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs942950	0.000596	alcohol dependence	21314694

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

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 )
chr10	117712736	117712995	E070	-46456
chr10	117713003	117713071	E070	-46380
chr10	117713380	117713434	E070	-46017
chr10	117804868	117805156	E070	45417
chr10	117805263	117805599	E070	45812
chr10	117805651	117805727	E070	46200
chr10	117805778	117805828	E070	46327
chr10	117805849	117805965	E070	46398
chr10	117806144	117806224	E070	46693
chr10	117806742	117806806	E070	47291
chr10	117806891	117806974	E070	47440
chr10	117807367	117807439	E070	47916
chr10	117807570	117807660	E070	48119
chr10	117759963	117761172	E071	512
chr10	117759963	117761172	E072	512
chr10	117733900	117734011	E081	-25440
chr10	117734037	117734186	E081	-25265
chr10	117734232	117734781	E081	-24670
chr10	117734837	117734887	E081	-24564
chr10	117734922	117735415	E081	-24036
chr10	117803190	117803240	E081	43739
chr10	117803377	117803787	E081	43926
chr10	117803983	117804175	E081	44532
chr10	117804181	117804278	E081	44730
chr10	117804285	117804815	E081	44834
chr10	117804868	117805156	E081	45417
chr10	117805263	117805599	E081	45812
chr10	117805651	117805727	E081	46200
chr10	117805778	117805828	E081	46327
chr10	117805849	117805965	E081	46398
chr10	117728138	117728230	E082	-31221
chr10	117728295	117728345	E082	-31106
chr10	117728749	117728799	E082	-30652
chr10	117729076	117729587	E082	-29864
chr10	117803377	117803787	E082	43926
chr10	117804181	117804278	E082	44730
chr10	117804285	117804815	E082	44834
chr10	117804868	117805156	E082	45417
chr10	117805263	117805599	E082	45812
chr10	117805651	117805727	E082	46200
chr10	117805778	117805828	E082	46327
chr10	117805849	117805965	E082	46398
chr10	117806144	117806224	E082	46693
chr10	117806742	117806806	E082	47291
chr10	117806891	117806974	E082	47440

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr10	117740600	117740992	E068	-18459
chr10	117740600	117740992	E069	-18459
chr10	117740600	117740992	E071	-18459

rs942950

Genomic Coordinates

Population Frequency

P-Value

eQTL of rs942950 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs942950 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Promoter Annotation (GRCh37.p13)