rs7138247

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

ANO6 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0163 (4889/29928,GnomAD)
G==0195 (5697/29118,TOPMED)
G==0265 (1327/5008,1000G)
G==0061 (235/3854,ALSPAC)
G==0067 (248/3708,TWINSUK)

Position: chr12:45275970 (GRCh38.p7) (12q12)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 72 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.45275970G>A
GRCh37.p13 chr 12	NC_000012.11:g.45669753G>A
ANO6 RefSeqGene	NG_028220.1:g.64984G>A

Gene: ANO6, anoctamin 6(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ANO6 transcript variant 1	NM_001025356.2:c.	N/A	Intron Variant
ANO6 transcript variant 3	NM_001142679.1:c.	N/A	Intron Variant
ANO6 transcript variant 5	NM_001204803.1:c.	N/A	Intron Variant
ANO6 transcript variant 2	NM_001142678.1:c.	N/A	Genic Upstream Transcript Variant
ANO6 transcript variant X2	XM_005268707.3:c.	N/A	Intron Variant
ANO6 transcript variant X1	XM_005268706.4:c.	N/A	Genic Upstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.390	A=0.610
1000Genomes	American	Sub	694	G=0.120	A=0.880
1000Genomes	East Asian	Sub	1008	G=0.447	A=0.553
1000Genomes	Europe	Sub	1006	G=0.064	A=0.936
1000Genomes	Global	Study-wide	5008	G=0.265	A=0.735
1000Genomes	South Asian	Sub	978	G=0.220	A=0.780
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.061	A=0.939
The Genome Aggregation Database	African	Sub	8692	G=0.326	A=0.674
The Genome Aggregation Database	American	Sub	838	G=0.110	A=0.890
The Genome Aggregation Database	East Asian	Sub	1604	G=0.420	A=0.580
The Genome Aggregation Database	Europe	Sub	18492	G=0.068	A=0.931
The Genome Aggregation Database	Global	Study-wide	29928	G=0.163	A=0.836
The Genome Aggregation Database	Other	Sub	302	G=0.080	A=0.920
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.195	A=0.804
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.067	A=0.933

PMID	Title	Author	Journal
19581569	Genome-wide association study of alcohol dependence.	Treutlein J	Arch Gen Psychiatry

P-Value

SNP ID	p-value	Traits	Study
rs7138247	7.21E-06	alcohol dependence	19581569

eQTL of rs7138247 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 rs7138247 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 )
chr12	45627842	45629879	E067	-39874
chr12	45653291	45654710	E067	-15043
chr12	45697383	45697524	E067	27630
chr12	45697649	45698081	E067	27896
chr12	45698243	45698798	E067	28490
chr12	45621175	45621790	E068	-47963
chr12	45625376	45627217	E068	-42536
chr12	45627842	45629879	E068	-39874
chr12	45697383	45697524	E068	27630
chr12	45697649	45698081	E068	27896
chr12	45698243	45698798	E068	28490
chr12	45698965	45699031	E068	29212
chr12	45703551	45704356	E068	33798
chr12	45704368	45704440	E068	34615
chr12	45627842	45629879	E069	-39874
chr12	45697649	45698081	E069	27896
chr12	45698243	45698798	E069	28490
chr12	45698965	45699031	E069	29212
chr12	45621175	45621790	E070	-47963
chr12	45621886	45622061	E070	-47692
chr12	45622282	45622342	E070	-47411
chr12	45650673	45650791	E070	-18962
chr12	45677825	45678656	E070	8072
chr12	45678720	45678770	E070	8967
chr12	45627842	45629879	E071	-39874
chr12	45650845	45651677	E071	-18076
chr12	45652896	45653007	E071	-16746
chr12	45653114	45653222	E071	-16531
chr12	45653291	45654710	E071	-15043
chr12	45697383	45697524	E071	27630
chr12	45697649	45698081	E071	27896
chr12	45698243	45698798	E071	28490
chr12	45698965	45699031	E071	29212
chr12	45699445	45699714	E071	29692
chr12	45703551	45704356	E071	33798
chr12	45704368	45704440	E071	34615
chr12	45627842	45629879	E072	-39874
chr12	45697649	45698081	E072	27896
chr12	45698243	45698798	E072	28490
chr12	45698965	45699031	E072	29212
chr12	45625376	45627217	E073	-42536
chr12	45627842	45629879	E073	-39874
chr12	45650845	45651677	E073	-18076
chr12	45653114	45653222	E073	-16531
chr12	45653291	45654710	E073	-15043
chr12	45662345	45663376	E073	-6377
chr12	45697383	45697524	E073	27630
chr12	45697649	45698081	E073	27896
chr12	45698243	45698798	E073	28490
chr12	45625376	45627217	E074	-42536
chr12	45627218	45627433	E074	-42320
chr12	45642810	45642850	E074	-26903
chr12	45650845	45651677	E074	-18076
chr12	45667381	45668266	E074	-1487
chr12	45694607	45694683	E074	24854
chr12	45694736	45694846	E074	24983
chr12	45697383	45697524	E074	27630
chr12	45697649	45698081	E074	27896
chr12	45698243	45698798	E074	28490
chr12	45698965	45699031	E074	29212
chr12	45650845	45651677	E081	-18076
chr12	45651904	45651954	E081	-17799
chr12	45652366	45652434	E081	-17319
chr12	45652604	45652702	E081	-17051
chr12	45652896	45653007	E081	-16746
chr12	45653114	45653222	E081	-16531
chr12	45673707	45674240	E081	3954
chr12	45674311	45674566	E081	4558
chr12	45653114	45653222	E082	-16531
chr12	45653291	45654710	E082	-15043
chr12	45697649	45698081	E082	27896
chr12	45698243	45698798	E082	28490