rs1446891

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

EXOC6B : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C==0116 (3498/29956,GnomAD)
C==0135 (3946/29116,TOPMED)
C==0093 (465/5008,1000G)
C==0113 (437/3854,ALSPAC)
C==0119 (442/3708,TWINSUK)

Position: chr2:72579122 (GRCh38.p7) (2p13.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 76 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.72579122C>T
GRCh37.p13 chr 2	NC_000002.11:g.72806251C>T

Gene: EXOC6B, exocyst complex component 6B(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
EXOC6B transcript variant 1	NM_001321729.1:c.	N/A	Intron Variant
EXOC6B transcript variant 3	NM_001321730.1:c.	N/A	Intron Variant
EXOC6B transcript variant 4	NM_001321731.1:c.	N/A	Intron Variant
EXOC6B transcript variant 5	NM_001321733.1:c.	N/A	Intron Variant
EXOC6B transcript variant 6	NM_001321734.1:c.	N/A	Intron Variant
EXOC6B transcript variant 2	NM_015189.2:c.	N/A	Intron Variant
EXOC6B transcript variant 7	NR_135773.1:n.	N/A	Intron Variant
EXOC6B transcript variant 8	NR_135774.1:n.	N/A	Intron Variant
EXOC6B transcript variant X1	XM_011532711.2:c.	N/A	Intron Variant
EXOC6B transcript variant X2	XM_011532712.2:c.	N/A	Intron Variant
EXOC6B transcript variant X3	XM_017003641.1:c.	N/A	Intron Variant
EXOC6B transcript variant X4	XM_005264224.1:c.	N/A	Genic Upstream Transcript Variant
EXOC6B transcript variant X5	XM_017003642.1:c.	N/A	Genic Upstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.166	T=0.834
1000Genomes	American	Sub	694	C=0.100	T=0.900
1000Genomes	East Asian	Sub	1008	C=0.006	T=0.994
1000Genomes	Europe	Sub	1006	C=0.100	T=0.900
1000Genomes	Global	Study-wide	5008	C=0.093	T=0.907
1000Genomes	South Asian	Sub	978	C=0.070	T=0.930
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.113	T=0.887
The Genome Aggregation Database	African	Sub	8724	C=0.179	T=0.821
The Genome Aggregation Database	American	Sub	832	C=0.070	T=0.930
The Genome Aggregation Database	East Asian	Sub	1622	C=0.005	T=0.995
The Genome Aggregation Database	Europe	Sub	18476	C=0.099	T=0.900
The Genome Aggregation Database	Global	Study-wide	29956	C=0.116	T=0.883
The Genome Aggregation Database	Other	Sub	302	C=0.110	T=0.890
Trans-Omics for Precision Medicine	Global	Study-wide	29116	C=0.135	T=0.864
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.119	T=0.881

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs1446891	0.00099	alcohol dependence	20201924

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 )
chr2	72760541	72760608	E067	-45643
chr2	72766193	72766762	E067	-39489
chr2	72788996	72789369	E067	-16882
chr2	72789446	72789512	E067	-16739
chr2	72789544	72789687	E067	-16564
chr2	72789688	72789932	E067	-16319
chr2	72841101	72841741	E067	34850
chr2	72852557	72852848	E067	46306
chr2	72852925	72853001	E067	46674
chr2	72765697	72766179	E068	-40072
chr2	72766193	72766762	E068	-39489
chr2	72788996	72789369	E068	-16882
chr2	72830626	72830986	E068	24375
chr2	72856066	72856116	E068	49815
chr2	72856161	72856213	E068	49910
chr2	72765697	72766179	E069	-40072
chr2	72766193	72766762	E069	-39489
chr2	72788996	72789369	E069	-16882
chr2	72789446	72789512	E069	-16739
chr2	72789544	72789687	E069	-16564
chr2	72789688	72789932	E069	-16319
chr2	72803687	72803811	E069	-2440
chr2	72841101	72841741	E069	34850
chr2	72852557	72852848	E069	46306
chr2	72852925	72853001	E069	46674
chr2	72854136	72854325	E069	47885
chr2	72854363	72854444	E069	48112
chr2	72760541	72760608	E071	-45643
chr2	72761007	72761141	E071	-45110
chr2	72761989	72762161	E071	-44090
chr2	72765697	72766179	E071	-40072
chr2	72766193	72766762	E071	-39489
chr2	72788996	72789369	E071	-16882
chr2	72789446	72789512	E071	-16739
chr2	72789544	72789687	E071	-16564
chr2	72789688	72789932	E071	-16319
chr2	72803687	72803811	E071	-2440
chr2	72803868	72804113	E071	-2138
chr2	72841974	72842054	E071	35723
chr2	72845987	72846134	E071	39736
chr2	72846881	72846994	E071	40630
chr2	72854136	72854325	E071	47885
chr2	72854363	72854444	E071	48112
chr2	72760541	72760608	E072	-45643
chr2	72761007	72761141	E072	-45110
chr2	72765697	72766179	E072	-40072
chr2	72766193	72766762	E072	-39489
chr2	72788996	72789369	E072	-16882
chr2	72789446	72789512	E072	-16739
chr2	72789544	72789687	E072	-16564
chr2	72830626	72830986	E072	24375
chr2	72841101	72841741	E072	34850
chr2	72841974	72842054	E072	35723
chr2	72852557	72852848	E072	46306
chr2	72852925	72853001	E072	46674
chr2	72856066	72856116	E072	49815
chr2	72856161	72856213	E072	49910
chr2	72766193	72766762	E073	-39489
chr2	72788996	72789369	E073	-16882
chr2	72789446	72789512	E073	-16739
chr2	72841974	72842054	E073	35723
chr2	72765697	72766179	E074	-40072
chr2	72766193	72766762	E074	-39489
chr2	72788996	72789369	E074	-16882
chr2	72789446	72789512	E074	-16739
chr2	72789544	72789687	E074	-16564
chr2	72789688	72789932	E074	-16319
chr2	72830626	72830986	E074	24375
chr2	72841101	72841741	E074	34850
chr2	72841974	72842054	E074	35723
chr2	72845987	72846134	E074	39736
chr2	72846881	72846994	E074	40630
chr2	72847189	72847249	E074	40938
chr2	72856161	72856213	E074	49910
chr2	72774116	72774213	E081	-32038
chr2	72830626	72830986	E082	24375

rs1446891

Genomic Coordinates

Gene: EXOC6B, exocyst complex component 6B(minus strand)

Population Frequency

P-Value

eQTL of rs1446891 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs1446891 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)