rs3795536

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

MARC2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0301 (9004/29864,GnomAD)
A=0323 (9431/29116,TOPMED)
A=0412 (2062/5008,1000G)
A=0174 (670/3854,ALSPAC)
A=0191 (710/3708,TWINSUK)

Position: chr1:220762635 (GRCh38.p7) (1q41)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 68 Enhancers around

Promoter: 18 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.220762635G>A
GRCh37.p13 chr 1	NC_000001.10:g.220935977G>A

Gene: MARC2, mitochondrial amidoxime reducing component 2(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MARC2 transcript variant 1	NM_001317338.1:c.	N/A	Intron Variant
MARC2 transcript variant 2	NM_017898.4:c.	N/A	Intron Variant
MARC2 transcript variant X6	XM_006711407.2:c.	N/A	Intron Variant
MARC2 transcript variant X2	XM_011509684.1:c.	N/A	Intron Variant
MARC2 transcript variant X4	XM_017001581.1:c.	N/A	Intron Variant
MARC2 transcript variant X1	XR_001737257.1:n.	N/A	Intron Variant
MARC2 transcript variant X3	XR_001737258.1:n.	N/A	Intron Variant
MARC2 transcript variant X2	XR_247029.4:n.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.589	A=0.411
1000Genomes	American	Sub	694	G=0.600	A=0.400
1000Genomes	East Asian	Sub	1008	G=0.313	A=0.687
1000Genomes	Europe	Sub	1006	G=0.792	A=0.208
1000Genomes	Global	Study-wide	5008	G=0.588	A=0.412
1000Genomes	South Asian	Sub	978	G=0.650	A=0.350
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.826	A=0.174
The Genome Aggregation Database	African	Sub	8674	G=0.607	A=0.393
The Genome Aggregation Database	American	Sub	838	G=0.610	A=0.390
The Genome Aggregation Database	East Asian	Sub	1616	G=0.299	A=0.701
The Genome Aggregation Database	Europe	Sub	18434	G=0.780	A=0.220
The Genome Aggregation Database	Global	Study-wide	29864	G=0.698	A=0.301
The Genome Aggregation Database	Other	Sub	302	G=0.720	A=0.280
Trans-Omics for Precision Medicine	Global	Study-wide	29116	G=0.676	A=0.323
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.809	A=0.191

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

P-Value

SNP ID	p-value	Traits	Study
rs3795536	0.000619	alcohol dependence	20201924

eQTL of rs3795536 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr1:220935977	3/2/2018 12:00:00 AM	ENSG00000117791.11	G>A	5.6644e-5	14410	Cerebellum

meQTL of rs3795536 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	220905971	220906038	E067	-29939
chr1	220906086	220907026	E067	-28951
chr1	220924196	220924295	E067	-11682
chr1	220924566	220924756	E067	-11221
chr1	220924760	220924925	E067	-11052
chr1	220924968	220925018	E067	-10959
chr1	220905971	220906038	E068	-29939
chr1	220924002	220924069	E068	-11908
chr1	220924196	220924295	E068	-11682
chr1	220924566	220924756	E068	-11221
chr1	220924760	220924925	E068	-11052
chr1	220949983	220950398	E068	14006
chr1	220964957	220965020	E068	28980
chr1	220924002	220924069	E069	-11908
chr1	220924196	220924295	E069	-11682
chr1	220924566	220924756	E069	-11221
chr1	220924760	220924925	E069	-11052
chr1	220924968	220925018	E069	-10959
chr1	220925119	220925171	E069	-10806
chr1	220948707	220948824	E069	12730
chr1	220959223	220959339	E069	23246
chr1	220923190	220923886	E070	-12091
chr1	220924002	220924069	E070	-11908
chr1	220924196	220924295	E070	-11682
chr1	220924566	220924756	E070	-11221
chr1	220924760	220924925	E070	-11052
chr1	220959223	220959339	E070	23246
chr1	220961418	220961855	E070	25441
chr1	220905971	220906038	E071	-29939
chr1	220924002	220924069	E071	-11908
chr1	220924196	220924295	E071	-11682
chr1	220924566	220924756	E071	-11221
chr1	220981535	220981750	E071	45558
chr1	220949983	220950398	E072	14006
chr1	220961418	220961855	E072	25441
chr1	220964754	220964899	E072	28777
chr1	220964957	220965020	E072	28980
chr1	220906086	220907026	E073	-28951
chr1	220924002	220924069	E073	-11908
chr1	220924196	220924295	E073	-11682
chr1	220924566	220924756	E073	-11221
chr1	220924760	220924925	E073	-11052
chr1	220924968	220925018	E073	-10959
chr1	220925119	220925171	E073	-10806
chr1	220964754	220964899	E073	28777
chr1	220964957	220965020	E073	28980
chr1	220959223	220959339	E074	23246
chr1	220905971	220906038	E081	-29939
chr1	220924196	220924295	E081	-11682
chr1	220924566	220924756	E081	-11221
chr1	220924760	220924925	E081	-11052
chr1	220924968	220925018	E081	-10959
chr1	220925119	220925171	E081	-10806
chr1	220925374	220925452	E081	-10525
chr1	220949983	220950398	E081	14006
chr1	220950424	220950489	E081	14447
chr1	220959223	220959339	E081	23246
chr1	220961418	220961855	E081	25441
chr1	220964365	220964585	E081	28388
chr1	220964754	220964899	E081	28777
chr1	220964957	220965020	E081	28980
chr1	220920704	220920768	E082	-15209
chr1	220924566	220924756	E082	-11221
chr1	220924760	220924925	E082	-11052
chr1	220924968	220925018	E082	-10959
chr1	220925119	220925171	E082	-10806
chr1	220925374	220925452	E082	-10525
chr1	220958994	220959094	E082	23017

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	220920901	220922731	E067	-13246
chr1	220959444	220961072	E067	23467
chr1	220920901	220922731	E068	-13246
chr1	220959444	220961072	E068	23467
chr1	220920901	220922731	E069	-13246
chr1	220959444	220961072	E069	23467
chr1	220920901	220922731	E070	-13246
chr1	220959444	220961072	E070	23467
chr1	220920901	220922731	E071	-13246
chr1	220959444	220961072	E071	23467
chr1	220920901	220922731	E072	-13246
chr1	220959444	220961072	E072	23467
chr1	220920901	220922731	E073	-13246
chr1	220959444	220961072	E073	23467
chr1	220920901	220922731	E074	-13246
chr1	220959444	220961072	E074	23467
chr1	220920901	220922731	E082	-13246
chr1	220959444	220961072	E082	23467