rs7155721

Organism: Homo sapiens

Alleles: A>C

Gene : Feature

EXOC5 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0224 (6711/29892,GnomAD)
C=0287 (8378/29118,TOPMED)
C=0227 (1135/5008,1000G)
C=0138 (530/3854,ALSPAC)
C=0151 (560/3708,TWINSUK)

Position: chr14:57230712 (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.57230712A>C
GRCh37.p13 chr 14	NC_000014.8:g.57697430A>C

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	A=0.461	C=0.539
1000Genomes	American	Sub	694	A=0.900	C=0.100
1000Genomes	East Asian	Sub	1008	A=0.886	C=0.114
1000Genomes	Europe	Sub	1006	A=0.882	C=0.118
1000Genomes	Global	Study-wide	5008	A=0.773	C=0.227
1000Genomes	South Asian	Sub	978	A=0.880	C=0.120
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.862	C=0.138
The Genome Aggregation Database	African	Sub	8686	A=0.541	C=0.459
The Genome Aggregation Database	American	Sub	836	A=0.900	C=0.100
The Genome Aggregation Database	East Asian	Sub	1616	A=0.856	C=0.144
The Genome Aggregation Database	Europe	Sub	18452	A=0.871	C=0.128
The Genome Aggregation Database	Global	Study-wide	29892	A=0.775	C=0.224
The Genome Aggregation Database	Other	Sub	302	A=0.850	C=0.150
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.712	C=0.287
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.849	C=0.151

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
rs7155721	2.96E-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	34848
chr14	57732458	57732577	E067	35028
chr14	57732861	57733116	E067	35431
chr14	57733172	57733273	E067	35742
chr14	57733522	57733779	E067	36092
chr14	57733916	57733990	E067	36486
chr14	57738665	57738723	E067	41235
chr14	57717975	57718025	E068	20545
chr14	57733522	57733779	E068	36092
chr14	57733916	57733990	E068	36486
chr14	57737923	57737971	E068	40493
chr14	57738075	57738166	E068	40645
chr14	57721672	57721873	E069	24242
chr14	57722133	57722183	E069	24703
chr14	57737923	57737971	E069	40493
chr14	57732278	57732427	E070	34848
chr14	57732458	57732577	E070	35028
chr14	57737923	57737971	E070	40493
chr14	57738075	57738166	E070	40645
chr14	57717975	57718025	E071	20545
chr14	57721672	57721873	E071	24242
chr14	57722133	57722183	E071	24703
chr14	57732278	57732427	E071	34848
chr14	57732458	57732577	E071	35028
chr14	57732861	57733116	E071	35431
chr14	57733172	57733273	E071	35742
chr14	57733522	57733779	E071	36092
chr14	57737923	57737971	E071	40493
chr14	57738075	57738166	E071	40645
chr14	57721672	57721873	E072	24242
chr14	57722133	57722183	E072	24703
chr14	57733916	57733990	E072	36486
chr14	57737923	57737971	E072	40493
chr14	57737923	57737971	E073	40493
chr14	57738075	57738166	E073	40645
chr14	57721672	57721873	E074	24242
chr14	57722133	57722183	E074	24703
chr14	57723123	57723173	E074	25693
chr14	57723318	57723368	E074	25888
chr14	57732861	57733116	E074	35431
chr14	57733172	57733273	E074	35742
chr14	57733916	57733990	E074	36486
chr14	57737923	57737971	E074	40493
chr14	57738075	57738166	E074	40645
chr14	57732861	57733116	E081	35431
chr14	57733172	57733273	E081	35742
chr14	57733522	57733779	E081	36092
chr14	57733916	57733990	E081	36486
chr14	57737923	57737971	E081	40493
chr14	57738075	57738166	E081	40645

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr14	57734554	57734668	E067	37124
chr14	57734740	57736585	E067	37310
chr14	57736749	57736822	E067	39319
chr14	57736945	57736999	E067	39515
chr14	57734554	57734668	E068	37124
chr14	57734740	57736585	E068	37310
chr14	57736749	57736822	E068	39319
chr14	57736945	57736999	E068	39515
chr14	57734554	57734668	E069	37124
chr14	57734740	57736585	E069	37310
chr14	57736749	57736822	E069	39319
chr14	57736945	57736999	E069	39515
chr14	57734554	57734668	E070	37124
chr14	57734740	57736585	E070	37310
chr14	57736749	57736822	E070	39319
chr14	57736945	57736999	E070	39515
chr14	57734554	57734668	E071	37124
chr14	57734740	57736585	E071	37310
chr14	57736749	57736822	E071	39319
chr14	57736945	57736999	E071	39515
chr14	57734740	57736585	E072	37310
chr14	57736749	57736822	E072	39319
chr14	57736945	57736999	E072	39515
chr14	57734554	57734668	E073	37124
chr14	57734740	57736585	E073	37310
chr14	57736749	57736822	E073	39319
chr14	57736945	57736999	E073	39515
chr14	57734554	57734668	E074	37124
chr14	57734740	57736585	E074	37310
chr14	57734554	57734668	E081	37124
chr14	57734740	57736585	E081	37310
chr14	57734554	57734668	E082	37124
chr14	57734740	57736585	E082	37310
chr14	57736749	57736822	E082	39319
chr14	57736945	57736999	E082	39515

rs7155721

Genomic Coordinates

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

Population Frequency

P-Value

eQTL of rs7155721 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs7155721 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Promoter Annotation (GRCh37.p13)