rs677735

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0134 (4017/29956,GnomAD)
A==0139 (4047/29118,TOPMED)
A==0188 (939/5008,1000G)
A==0109 (420/3854,ALSPAC)
A==0108 (402/3708,TWINSUK)

Position: chr1:5235116 (GRCh38.p7) (1p36.32)

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 1	NC_000001.11:g.5235116A>G
GRCh37.p13 chr 1	NC_000001.10:g.5295176A>G

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.160	G=0.840
1000Genomes	American	Sub	694	A=0.300	G=0.700
1000Genomes	East Asian	Sub	1008	A=0.202	G=0.798
1000Genomes	Europe	Sub	1006	A=0.107	G=0.893
1000Genomes	Global	Study-wide	5008	A=0.188	G=0.812
1000Genomes	South Asian	Sub	978	A=0.210	G=0.790
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.109	G=0.891
The Genome Aggregation Database	African	Sub	8722	A=0.162	G=0.838
The Genome Aggregation Database	American	Sub	838	A=0.280	G=0.720
The Genome Aggregation Database	East Asian	Sub	1612	A=0.208	G=0.792
The Genome Aggregation Database	Europe	Sub	18482	A=0.108	G=0.891
The Genome Aggregation Database	Global	Study-wide	29956	A=0.134	G=0.865
The Genome Aggregation Database	Other	Sub	302	A=0.080	G=0.920
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.139	G=0.861
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.108	G=0.892

PMID	Title	Author	Journal
23953852	Genome-wide association studies of maximum number of drinks.	Pan Y	J Psychiatr Res

P-Value

SNP ID	p-value	Traits	Study
rs677735	5.84E-05	alcohol consumption	23953852

eQTL of rs677735 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

meQTL of rs677735 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 )
chr1	5280660	5281294	E067	-13882
chr1	5281434	5281655	E067	-13521
chr1	5298476	5298644	E067	3300
chr1	5298929	5299093	E067	3753
chr1	5299366	5299667	E067	4190
chr1	5300132	5300318	E067	4956
chr1	5300434	5300488	E067	5258
chr1	5283496	5283575	E068	-11601
chr1	5298929	5299093	E068	3753
chr1	5300132	5300318	E068	4956
chr1	5283496	5283575	E069	-11601
chr1	5298476	5298644	E069	3300
chr1	5298929	5299093	E069	3753
chr1	5299366	5299667	E069	4190
chr1	5300132	5300318	E069	4956
chr1	5333507	5333699	E069	38331
chr1	5333756	5333935	E069	38580
chr1	5251531	5251581	E070	-43595
chr1	5251595	5251666	E070	-43510
chr1	5251667	5251853	E070	-43323
chr1	5298476	5298644	E070	3300
chr1	5298929	5299093	E070	3753
chr1	5299366	5299667	E070	4190
chr1	5300132	5300318	E070	4956
chr1	5300434	5300488	E070	5258
chr1	5283496	5283575	E071	-11601
chr1	5298476	5298644	E071	3300
chr1	5299366	5299667	E071	4190
chr1	5300132	5300318	E071	4956
chr1	5300434	5300488	E071	5258
chr1	5333507	5333699	E071	38331
chr1	5333756	5333935	E071	38580
chr1	5334077	5334202	E071	38901
chr1	5334671	5334775	E071	39495
chr1	5334778	5334897	E071	39602
chr1	5339345	5339486	E071	44169
chr1	5283496	5283575	E072	-11601
chr1	5298929	5299093	E072	3753
chr1	5299366	5299667	E072	4190
chr1	5300132	5300318	E072	4956
chr1	5300434	5300488	E072	5258
chr1	5298476	5298644	E073	3300
chr1	5298929	5299093	E073	3753
chr1	5333507	5333699	E073	38331
chr1	5333756	5333935	E073	38580
chr1	5283496	5283575	E074	-11601
chr1	5299366	5299667	E074	4190
chr1	5300132	5300318	E074	4956
chr1	5300434	5300488	E074	5258
chr1	5333507	5333699	E074	38331
chr1	5333756	5333935	E074	38580
chr1	5334077	5334202	E074	38901
chr1	5339345	5339486	E074	44169
chr1	5280660	5281294	E081	-13882
chr1	5281434	5281655	E081	-13521
chr1	5291637	5292502	E081	-2674
chr1	5298476	5298644	E081	3300
chr1	5298929	5299093	E081	3753
chr1	5299366	5299667	E081	4190
chr1	5325458	5326053	E081	30282
chr1	5327621	5327734	E081	32445
chr1	5327773	5327995	E081	32597
chr1	5280660	5281294	E082	-13882
chr1	5291637	5292502	E082	-2674
chr1	5325458	5326053	E082	30282