rs11939576

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0255 (7442/29118,TOPMED)
G=0217 (5501/25252,GnomAD)
G=0240 (1201/5008,1000G)
G=0145 (559/3854,ALSPAC)
G=0140 (518/3708,TWINSUK)

Position: chr4:77840844 (GRCh38.p7) (4q21.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 55 Enhancers around

Promoter: 41 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 4	NC_000004.12:g.77840844A>G
GRCh37.p13 chr 4	NC_000004.11:g.78761998A>G

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.595	G=0.405
1000Genomes	American	Sub	694	A=0.870	G=0.130
1000Genomes	East Asian	Sub	1008	A=0.806	G=0.194
1000Genomes	Europe	Sub	1006	A=0.871	G=0.129
1000Genomes	Global	Study-wide	5008	A=0.760	G=0.240
1000Genomes	South Asian	Sub	978	A=0.740	G=0.260
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.855	G=0.145
The Genome Aggregation Database	African	Sub	7836	A=0.624	G=0.376
The Genome Aggregation Database	American	Sub	750	A=0.860	G=0.140
The Genome Aggregation Database	East Asian	Sub	1574	A=0.835	G=0.165
The Genome Aggregation Database	Europe	Sub	14808	A=0.854	G=0.145
The Genome Aggregation Database	Global	Study-wide	25252	A=0.782	G=0.217
The Genome Aggregation Database	Other	Sub	284	A=0.860	G=0.140
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.744	G=0.255
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.860	G=0.140

PMID	Title	Author	Journal
23743675	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Kapoor M	Hum Genet

P-Value

SNP ID	p-value	Traits	Study
rs11939576	6.99E-05	alcohol consumption	23743675

eQTL of rs11939576 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 rs11939576 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 )
chr4	78722035	78722202	E067	-39796
chr4	78722256	78722380	E067	-39618
chr4	78722404	78722470	E067	-39528
chr4	78722483	78722656	E067	-39342
chr4	78736625	78736683	E067	-25315
chr4	78736879	78737073	E067	-24925
chr4	78742801	78743329	E067	-18669
chr4	78743347	78743599	E067	-18399
chr4	78722035	78722202	E068	-39796
chr4	78722256	78722380	E068	-39618
chr4	78722404	78722470	E068	-39528
chr4	78722483	78722656	E068	-39342
chr4	78736625	78736683	E068	-25315
chr4	78736879	78737073	E068	-24925
chr4	78738053	78738138	E068	-23860
chr4	78742801	78743329	E068	-18669
chr4	78722035	78722202	E069	-39796
chr4	78722256	78722380	E069	-39618
chr4	78722404	78722470	E069	-39528
chr4	78722483	78722656	E069	-39342
chr4	78736625	78736683	E069	-25315
chr4	78736879	78737073	E069	-24925
chr4	78742801	78743329	E069	-18669
chr4	78743347	78743599	E069	-18399
chr4	78736625	78736683	E070	-25315
chr4	78782160	78782214	E070	20162
chr4	78782432	78782632	E070	20434
chr4	78722035	78722202	E071	-39796
chr4	78722256	78722380	E071	-39618
chr4	78722404	78722470	E071	-39528
chr4	78722483	78722656	E071	-39342
chr4	78736625	78736683	E071	-25315
chr4	78736879	78737073	E071	-24925
chr4	78742801	78743329	E071	-18669
chr4	78782432	78782632	E071	20434
chr4	78718519	78718632	E072	-43366
chr4	78742801	78743329	E072	-18669
chr4	78720523	78720573	E073	-41425
chr4	78736879	78737073	E073	-24925
chr4	78742801	78743329	E073	-18669
chr4	78743347	78743599	E073	-18399
chr4	78798485	78798550	E073	36487
chr4	78721744	78721795	E074	-40203
chr4	78722035	78722202	E074	-39796
chr4	78722256	78722380	E074	-39618
chr4	78722404	78722470	E074	-39528
chr4	78722483	78722656	E074	-39342
chr4	78724150	78724243	E074	-37755
chr4	78742801	78743329	E074	-18669
chr4	78782432	78782632	E074	20434
chr4	78782432	78782632	E081	20434
chr4	78736625	78736683	E082	-25315
chr4	78736879	78737073	E082	-24925
chr4	78782432	78782632	E082	20434
chr4	78785259	78785299	E082	23261

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr4	78738623	78740807	E067	-21191
chr4	78740810	78742783	E067	-19215
chr4	78782671	78784705	E067	20673
chr4	78784809	78784882	E067	22811
chr4	78784918	78785151	E067	22920
chr4	78738623	78740807	E068	-21191
chr4	78740810	78742783	E068	-19215
chr4	78782671	78784705	E068	20673
chr4	78784809	78784882	E068	22811
chr4	78784918	78785151	E068	22920
chr4	78738623	78740807	E069	-21191
chr4	78740810	78742783	E069	-19215
chr4	78782671	78784705	E069	20673
chr4	78784809	78784882	E069	22811
chr4	78784918	78785151	E069	22920
chr4	78738623	78740807	E070	-21191
chr4	78740810	78742783	E070	-19215
chr4	78782671	78784705	E070	20673
chr4	78784809	78784882	E070	22811
chr4	78784918	78785151	E070	22920
chr4	78738623	78740807	E071	-21191
chr4	78740810	78742783	E071	-19215
chr4	78782671	78784705	E071	20673
chr4	78784809	78784882	E071	22811
chr4	78784918	78785151	E071	22920
chr4	78738623	78740807	E072	-21191
chr4	78740810	78742783	E072	-19215
chr4	78782671	78784705	E072	20673
chr4	78738623	78740807	E073	-21191
chr4	78740810	78742783	E073	-19215
chr4	78782671	78784705	E073	20673
chr4	78738623	78740807	E074	-21191
chr4	78740810	78742783	E074	-19215
chr4	78782671	78784705	E074	20673
chr4	78738623	78740807	E081	-21191
chr4	78782671	78784705	E081	20673
chr4	78738623	78740807	E082	-21191
chr4	78740810	78742783	E082	-19215
chr4	78782671	78784705	E082	20673
chr4	78784809	78784882	E082	22811
chr4	78784918	78785151	E082	22920