rs755016

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

ANO1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0357 (10681/29886,GnomAD)
A=0295 (8592/29118,TOPMED)
A=0321 (1608/5008,1000G)
A=0439 (1691/3854,ALSPAC)
A=0433 (1605/3708,TWINSUK)

Position: chr11:70106456 (GRCh38.p7) (11q13.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 16 Enhancers around

Promoter: 2 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 11	NC_000011.10:g.70106456G>A
GRCh37.p13 chr 11	NC_000011.9:g.69952562G>A

Gene: ANO1, anoctamin 1(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ANO1 transcript variant 1	NM_018043.5:c.	N/A	Intron Variant
ANO1 transcript variant 2	NR_030691.1:n.	N/A	Intron Variant
ANO1 transcript variant X10	XM_006718602.2:c.	N/A	Intron Variant
ANO1 transcript variant X12	XM_006718604.2:c.	N/A	Intron Variant
ANO1 transcript variant X13	XM_006718605.2:c.	N/A	Intron Variant
ANO1 transcript variant X1	XM_011545121.2:c.	N/A	Intron Variant
ANO1 transcript variant X2	XM_011545123.2:c.	N/A	Intron Variant
ANO1 transcript variant X3	XM_011545124.2:c.	N/A	Intron Variant
ANO1 transcript variant X5	XM_011545125.2:c.	N/A	Intron Variant
ANO1 transcript variant X7	XM_011545126.2:c.	N/A	Intron Variant
ANO1 transcript variant X8	XM_011545127.2:c.	N/A	Intron Variant
ANO1 transcript variant X9	XM_011545128.2:c.	N/A	Intron Variant
ANO1 transcript variant X11	XM_011545129.2:c.	N/A	Intron Variant
ANO1 transcript variant X14	XM_011545131.2:c.	N/A	Intron Variant
ANO1 transcript variant X4	XM_017017956.1:c.	N/A	Intron Variant
ANO1 transcript variant X6	XM_017017957.1:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.934	A=0.066
1000Genomes	American	Sub	694	G=0.600	A=0.400
1000Genomes	East Asian	Sub	1008	G=0.421	A=0.579
1000Genomes	Europe	Sub	1006	G=0.593	A=0.407
1000Genomes	Global	Study-wide	5008	G=0.679	A=0.321
1000Genomes	South Asian	Sub	978	G=0.740	A=0.260
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.561	A=0.439
The Genome Aggregation Database	African	Sub	8710	G=0.880	A=0.120
The Genome Aggregation Database	American	Sub	836	G=0.530	A=0.470
The Genome Aggregation Database	East Asian	Sub	1616	G=0.454	A=0.546
The Genome Aggregation Database	Europe	Sub	18424	G=0.552	A=0.447
The Genome Aggregation Database	Global	Study-wide	29886	G=0.642	A=0.357
The Genome Aggregation Database	Other	Sub	300	G=0.600	A=0.400
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.704	A=0.295
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.567	A=0.433

PMID	Title	Author	Journal
21529783	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Heath AC	Biol Psychiatry

P-Value

SNP ID	p-value	Traits	Study
rs755016	2.2E-05	alcoholism (heaviness of drinking)	21529783

eQTL of rs755016 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 rs755016 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 )
chr11	69958118	69958615	E068	5556
chr11	69988951	69989001	E070	36389
chr11	69989380	69989469	E070	36818
chr11	69989685	69989803	E070	37123
chr11	69986869	69988947	E071	34307
chr11	69944970	69945020	E072	-7542
chr11	69945049	69945124	E072	-7438
chr11	69945218	69945278	E072	-7284
chr11	69986869	69988947	E072	34307
chr11	69936994	69937404	E081	-15158
chr11	69937490	69937562	E081	-15000
chr11	69986869	69988947	E081	34307
chr11	69988951	69989001	E081	36389
chr11	69914742	69914792	E082	-37770
chr11	69914869	69915014	E082	-37548
chr11	69937490	69937562	E082	-15000

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr11	69923977	69924983	E082	-27579
chr11	69925020	69925287	E082	-27275