rs4727685

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0240 (7189/29946,GnomAD)
G==0243 (7084/29118,TOPMED)
G==0174 (869/5008,1000G)
G==0296 (1139/3854,ALSPAC)
G==0297 (1103/3708,TWINSUK)

Position: chr7:107731613 (GRCh38.p7) (7q22.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 86 Enhancers around

Promoter: 10 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 7	NC_000007.14:g.107731613G>A
GRCh37.p13 chr 7	NC_000007.13:g.107372058G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.189	A=0.811
1000Genomes	American	Sub	694	G=0.230	A=0.770
1000Genomes	East Asian	Sub	1008	G=0.017	A=0.983
1000Genomes	Europe	Sub	1006	G=0.304	A=0.696
1000Genomes	Global	Study-wide	5008	G=0.174	A=0.826
1000Genomes	South Asian	Sub	978	G=0.140	A=0.860
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.296	A=0.704
The Genome Aggregation Database	African	Sub	8714	G=0.209	A=0.791
The Genome Aggregation Database	American	Sub	834	G=0.170	A=0.830
The Genome Aggregation Database	East Asian	Sub	1622	G=0.011	A=0.989
The Genome Aggregation Database	Europe	Sub	18474	G=0.276	A=0.723
The Genome Aggregation Database	Global	Study-wide	29946	G=0.240	A=0.759
The Genome Aggregation Database	Other	Sub	302	G=0.300	A=0.700
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.243	A=0.756
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.297	A=0.703

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
rs4727685	6.54E-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 )
chr7	107333486	107333578	E067	-38480
chr7	107333824	107334105	E067	-37953
chr7	107334175	107334517	E067	-37541
chr7	107334625	107335182	E067	-36876
chr7	107335233	107335327	E067	-36731
chr7	107383023	107383099	E067	10965
chr7	107386669	107386772	E067	14611
chr7	107387624	107387709	E067	15566
chr7	107387798	107387880	E067	15740
chr7	107333486	107333578	E068	-38480
chr7	107333824	107334105	E068	-37953
chr7	107334175	107334517	E068	-37541
chr7	107334625	107335182	E068	-36876
chr7	107335233	107335327	E068	-36731
chr7	107341168	107341256	E068	-30802
chr7	107341276	107341497	E068	-30561
chr7	107382753	107382818	E068	10695
chr7	107386669	107386772	E068	14611
chr7	107387624	107387709	E068	15566
chr7	107387798	107387880	E068	15740
chr7	107387932	107387978	E068	15874
chr7	107388350	107388400	E068	16292
chr7	107333486	107333578	E069	-38480
chr7	107333824	107334105	E069	-37953
chr7	107334175	107334517	E069	-37541
chr7	107334625	107335182	E069	-36876
chr7	107335233	107335327	E069	-36731
chr7	107335529	107335618	E069	-36440
chr7	107337294	107337374	E069	-34684
chr7	107337495	107337545	E069	-34513
chr7	107383023	107383099	E069	10965
chr7	107386669	107386772	E069	14611
chr7	107387624	107387709	E069	15566
chr7	107387798	107387880	E069	15740
chr7	107387932	107387978	E069	15874
chr7	107332948	107333294	E070	-38764
chr7	107333486	107333578	E070	-38480
chr7	107333824	107334105	E070	-37953
chr7	107334175	107334517	E070	-37541
chr7	107334625	107335182	E070	-36876
chr7	107335233	107335327	E070	-36731
chr7	107335529	107335618	E070	-36440
chr7	107335644	107335829	E070	-36229
chr7	107337495	107337545	E070	-34513
chr7	107337639	107338679	E070	-33379
chr7	107383023	107383099	E070	10965
chr7	107386669	107386772	E070	14611
chr7	107387798	107387880	E070	15740
chr7	107387932	107387978	E070	15874
chr7	107388350	107388400	E070	16292
chr7	107332129	107332230	E071	-39828
chr7	107332267	107332442	E071	-39616
chr7	107332948	107333294	E071	-38764
chr7	107333486	107333578	E071	-38480
chr7	107333824	107334105	E071	-37953
chr7	107335233	107335327	E071	-36731
chr7	107337495	107337545	E071	-34513
chr7	107337639	107338679	E071	-33379
chr7	107383023	107383099	E071	10965
chr7	107333824	107334105	E072	-37953
chr7	107334175	107334517	E072	-37541
chr7	107334625	107335182	E072	-36876
chr7	107337639	107338679	E072	-33379
chr7	107383023	107383099	E072	10965
chr7	107386669	107386772	E072	14611
chr7	107333824	107334105	E073	-37953
chr7	107334175	107334517	E073	-37541
chr7	107334625	107335182	E073	-36876
chr7	107335233	107335327	E073	-36731
chr7	107337639	107338679	E073	-33379
chr7	107333486	107333578	E074	-38480
chr7	107333824	107334105	E074	-37953
chr7	107334175	107334517	E074	-37541
chr7	107335233	107335327	E074	-36731
chr7	107333824	107334105	E081	-37953
chr7	107337639	107338679	E081	-33379
chr7	107338996	107339076	E081	-32982
chr7	107334175	107334517	E082	-37541
chr7	107334625	107335182	E082	-36876
chr7	107337294	107337374	E082	-34684
chr7	107337495	107337545	E082	-34513
chr7	107337639	107338679	E082	-33379
chr7	107386669	107386772	E082	14611
chr7	107387798	107387880	E082	15740
chr7	107387932	107387978	E082	15874
chr7	107388350	107388400	E082	16292

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr7	107383118	107385525	E067	11060
chr7	107383118	107385525	E068	11060
chr7	107383118	107385525	E069	11060
chr7	107383118	107385525	E070	11060
chr7	107383118	107385525	E071	11060
chr7	107383118	107385525	E072	11060
chr7	107383118	107385525	E073	11060
chr7	107383118	107385525	E074	11060
chr7	107383118	107385525	E081	11060
chr7	107383118	107385525	E082	11060

rs4727685

Genomic Coordinates

Population Frequency

P-Value

eQTL of rs4727685 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs4727685 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Promoter Annotation (GRCh37.p13)