rs6573140

Organism: Homo sapiens

Alleles: T>G

Gene : Feature

EXOC5 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0238 (7128/29934,GnomAD)
G=0343 (10008/29118,TOPMED)
G=0274 (1374/5008,1000G)
G=0059 (227/3854,ALSPAC)
G=0059 (220/3708,TWINSUK)

Position: chr14:57266276 (GRCh38.p7) (14q22.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 50 Enhancers around

Promoter: 35 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 14	NC_000014.9:g.57266276T>G
GRCh37.p13 chr 14	NC_000014.8:g.57732994T>G

Gene: EXOC5, exocyst complex component 5(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
EXOC5 transcript	NM_006544.3:c.	N/A	Intron Variant
EXOC5 transcript variant X1	XM_005267272.3:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.172	G=0.828
1000Genomes	American	Sub	694	T=0.900	G=0.100
1000Genomes	East Asian	Sub	1008	T=0.914	G=0.086
1000Genomes	Europe	Sub	1006	T=0.942	G=0.058
1000Genomes	Global	Study-wide	5008	T=0.726	G=0.274
1000Genomes	South Asian	Sub	978	T=0.930	G=0.070
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.941	G=0.059
The Genome Aggregation Database	African	Sub	8690	T=0.307	G=0.693
The Genome Aggregation Database	American	Sub	838	T=0.920	G=0.080
The Genome Aggregation Database	East Asian	Sub	1620	T=0.902	G=0.098
The Genome Aggregation Database	Europe	Sub	18486	T=0.954	G=0.045
The Genome Aggregation Database	Global	Study-wide	29934	T=0.761	G=0.238
The Genome Aggregation Database	Other	Sub	300	T=0.880	G=0.120
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.656	G=0.343
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.941	G=0.059

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

SNP ID	p-value	Traits	Study
rs6573140	4.73E-05	alcohol consumption	23743675

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 )
chr14	57732278	57732427	E067	-567
chr14	57732458	57732577	E067	-417
chr14	57732861	57733116	E067	0
chr14	57733172	57733273	E067	178
chr14	57733522	57733779	E067	528
chr14	57733916	57733990	E067	922
chr14	57738665	57738723	E067	5671
chr14	57717975	57718025	E068	-14969
chr14	57733522	57733779	E068	528
chr14	57733916	57733990	E068	922
chr14	57737923	57737971	E068	4929
chr14	57738075	57738166	E068	5081
chr14	57721672	57721873	E069	-11121
chr14	57722133	57722183	E069	-10811
chr14	57737923	57737971	E069	4929
chr14	57732278	57732427	E070	-567
chr14	57732458	57732577	E070	-417
chr14	57737923	57737971	E070	4929
chr14	57738075	57738166	E070	5081
chr14	57717975	57718025	E071	-14969
chr14	57721672	57721873	E071	-11121
chr14	57722133	57722183	E071	-10811
chr14	57732278	57732427	E071	-567
chr14	57732458	57732577	E071	-417
chr14	57732861	57733116	E071	0
chr14	57733172	57733273	E071	178
chr14	57733522	57733779	E071	528
chr14	57737923	57737971	E071	4929
chr14	57738075	57738166	E071	5081
chr14	57721672	57721873	E072	-11121
chr14	57722133	57722183	E072	-10811
chr14	57733916	57733990	E072	922
chr14	57737923	57737971	E072	4929
chr14	57737923	57737971	E073	4929
chr14	57738075	57738166	E073	5081
chr14	57721672	57721873	E074	-11121
chr14	57722133	57722183	E074	-10811
chr14	57723123	57723173	E074	-9821
chr14	57723318	57723368	E074	-9626
chr14	57732861	57733116	E074	0
chr14	57733172	57733273	E074	178
chr14	57733916	57733990	E074	922
chr14	57737923	57737971	E074	4929
chr14	57738075	57738166	E074	5081
chr14	57732861	57733116	E081	0
chr14	57733172	57733273	E081	178
chr14	57733522	57733779	E081	528
chr14	57733916	57733990	E081	922
chr14	57737923	57737971	E081	4929
chr14	57738075	57738166	E081	5081

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr14	57734554	57734668	E067	1560
chr14	57734740	57736585	E067	1746
chr14	57736749	57736822	E067	3755
chr14	57736945	57736999	E067	3951
chr14	57734554	57734668	E068	1560
chr14	57734740	57736585	E068	1746
chr14	57736749	57736822	E068	3755
chr14	57736945	57736999	E068	3951
chr14	57734554	57734668	E069	1560
chr14	57734740	57736585	E069	1746
chr14	57736749	57736822	E069	3755
chr14	57736945	57736999	E069	3951
chr14	57734554	57734668	E070	1560
chr14	57734740	57736585	E070	1746
chr14	57736749	57736822	E070	3755
chr14	57736945	57736999	E070	3951
chr14	57734554	57734668	E071	1560
chr14	57734740	57736585	E071	1746
chr14	57736749	57736822	E071	3755
chr14	57736945	57736999	E071	3951
chr14	57734740	57736585	E072	1746
chr14	57736749	57736822	E072	3755
chr14	57736945	57736999	E072	3951
chr14	57734554	57734668	E073	1560
chr14	57734740	57736585	E073	1746
chr14	57736749	57736822	E073	3755
chr14	57736945	57736999	E073	3951
chr14	57734554	57734668	E074	1560
chr14	57734740	57736585	E074	1746
chr14	57734554	57734668	E081	1560
chr14	57734740	57736585	E081	1746
chr14	57734554	57734668	E082	1560
chr14	57734740	57736585	E082	1746
chr14	57736749	57736822	E082	3755
chr14	57736945	57736999	E082	3951

rs6573140

Genomic Coordinates

Gene: EXOC5, exocyst complex component 5(minus strand)

Population Frequency

P-Value

eQTL of rs6573140 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs6573140 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Promoter Annotation (GRCh37.p13)