rs1014968

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0140 (4210/29922,GnomAD)
T=0162 (4727/29118,TOPMED)
T=0136 (679/5008,1000G)
T=0117 (452/3854,ALSPAC)
T=0118 (437/3708,TWINSUK)

Position: chr11:58673247 (GRCh38.p7) (11q12.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 65 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 11	NC_000011.10:g.58673247C>T
GRCh37.p13 chr 11	NC_000011.9:g.58440720C>T

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.845	T=0.155
1000Genomes	American	Sub	694	C=0.770	T=0.230
1000Genomes	East Asian	Sub	1008	C=0.889	T=0.111
1000Genomes	Europe	Sub	1006	C=0.877	T=0.123
1000Genomes	Global	Study-wide	5008	C=0.864	T=0.136
1000Genomes	South Asian	Sub	978	C=0.920	T=0.080
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.883	T=0.117
The Genome Aggregation Database	African	Sub	8710	C=0.840	T=0.160
The Genome Aggregation Database	American	Sub	836	C=0.770	T=0.230
The Genome Aggregation Database	East Asian	Sub	1620	C=0.921	T=0.079
The Genome Aggregation Database	Europe	Sub	18456	C=0.867	T=0.132
The Genome Aggregation Database	Global	Study-wide	29922	C=0.859	T=0.140
The Genome Aggregation Database	Other	Sub	300	C=0.820	T=0.180
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.837	T=0.162
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.882	T=0.118

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
rs1014968	0.00061	alcohol dependence	20201924

eQTL of rs1014968 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr11:58440720	LPXN	ENSG00000110031.8	C>T	1.6545e-3	95027	Frontal_Cortex_BA9

meQTL of rs1014968 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 )
chr11	58395047	58395837	E067	-44883
chr11	58407040	58407090	E067	-33630
chr11	58407226	58407272	E067	-33448
chr11	58407412	58407532	E067	-33188
chr11	58407620	58407707	E067	-33013
chr11	58407775	58407851	E067	-32869
chr11	58407864	58408367	E067	-32353
chr11	58408436	58408671	E067	-32049
chr11	58442769	58442819	E067	2049
chr11	58395047	58395837	E068	-44883
chr11	58396039	58396197	E068	-44523
chr11	58397018	58397178	E068	-43542
chr11	58407040	58407090	E068	-33630
chr11	58407226	58407272	E068	-33448
chr11	58407412	58407532	E068	-33188
chr11	58407620	58407707	E068	-33013
chr11	58407775	58407851	E068	-32869
chr11	58407864	58408367	E068	-32353
chr11	58395047	58395837	E069	-44883
chr11	58396039	58396197	E069	-44523
chr11	58407412	58407532	E069	-33188
chr11	58407620	58407707	E069	-33013
chr11	58407775	58407851	E069	-32869
chr11	58407864	58408367	E069	-32353
chr11	58408436	58408671	E069	-32049
chr11	58407864	58408367	E070	-32353
chr11	58394509	58394647	E071	-46073
chr11	58394648	58394770	E071	-45950
chr11	58395047	58395837	E071	-44883
chr11	58396039	58396197	E071	-44523
chr11	58406723	58406796	E071	-33924
chr11	58406816	58406933	E071	-33787
chr11	58407040	58407090	E071	-33630
chr11	58407226	58407272	E071	-33448
chr11	58407412	58407532	E071	-33188
chr11	58407620	58407707	E071	-33013
chr11	58407775	58407851	E071	-32869
chr11	58407864	58408367	E071	-32353
chr11	58408436	58408671	E071	-32049
chr11	58408748	58409269	E071	-31451
chr11	58442969	58443517	E071	2249
chr11	58394509	58394647	E072	-46073
chr11	58394648	58394770	E072	-45950
chr11	58395047	58395837	E072	-44883
chr11	58396039	58396197	E072	-44523
chr11	58407620	58407707	E072	-33013
chr11	58407775	58407851	E072	-32869
chr11	58407864	58408367	E072	-32353
chr11	58395047	58395837	E073	-44883
chr11	58407040	58407090	E073	-33630
chr11	58407226	58407272	E073	-33448
chr11	58407412	58407532	E073	-33188
chr11	58407620	58407707	E073	-33013
chr11	58407775	58407851	E073	-32869
chr11	58407864	58408367	E073	-32353
chr11	58408436	58408671	E073	-32049
chr11	58408748	58409269	E073	-31451
chr11	58394648	58394770	E074	-45950
chr11	58395047	58395837	E074	-44883
chr11	58396039	58396197	E074	-44523
chr11	58407412	58407532	E074	-33188
chr11	58407620	58407707	E074	-33013
chr11	58407775	58407851	E074	-32869
chr11	58407864	58408367	E074	-32353
chr11	58408436	58408671	E074	-32049