SNP Detail Info-rs2888312

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 3	NC_000003.12:g.43443475G>A
GRCh37.p13 chr 3	NC_000003.11:g.43484967G>A
ANO10 RefSeqGene	NG_028216.1:g.183594C>T

Gene: ANO10, anoctamin 10(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ANO10 transcript variant 2	NM_001204831.1:c.	N/A	Intron Variant
ANO10 transcript variant 3	NM_001204832.1:c.	N/A	Intron Variant
ANO10 transcript variant 4	NM_001204833.1:c.	N/A	Intron Variant
ANO10 transcript variant 5	NM_001204834.1:c.	N/A	Intron Variant
ANO10 transcript variant 1	NM_018075.3:c.	N/A	Intron Variant
ANO10 transcript variant X3	XM_011533885.2:c.	N/A	Intron Variant
ANO10 transcript variant X4	XM_011533887.2:c.	N/A	Intron Variant
ANO10 transcript variant X1	XM_017006716.1:c.	N/A	Intron Variant
ANO10 transcript variant X2	XM_017006717.1:c.	N/A	Intron Variant
ANO10 transcript variant X6	XM_017006718.1:c.	N/A	Intron Variant
ANO10 transcript variant X8	XM_017006719.1:c.	N/A	Intron Variant
ANO10 transcript variant X9	XM_017006720.1:c.	N/A	Intron Variant
ANO10 transcript variant X10	XM_017006721.1:c.	N/A	Intron Variant
ANO10 transcript variant X11	XM_017006722.1:c.	N/A	Intron Variant
ANO10 transcript variant X5	XM_011533889.2:c.	N/A	Genic Downstream Transcript Variant
ANO10 transcript variant X6	XM_011533890.2:c.	N/A	Genic Downstream Transcript Variant
ANO10 transcript variant X12	XR_001740190.1:n.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.938	A=0.062
1000Genomes	American	Sub	694	G=0.850	A=0.150
1000Genomes	East Asian	Sub	1008	G=0.887	A=0.113
1000Genomes	Europe	Sub	1006	G=0.738	A=0.262
1000Genomes	Global	Study-wide	5008	G=0.856	A=0.144
1000Genomes	South Asian	Sub	978	G=0.840	A=0.160
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.748	A=0.252
The Genome Aggregation Database	African	Sub	8712	G=0.919	A=0.081
The Genome Aggregation Database	American	Sub	838	G=0.870	A=0.130
The Genome Aggregation Database	East Asian	Sub	1614	G=0.893	A=0.107
The Genome Aggregation Database	Europe	Sub	18438	G=0.787	A=0.212
The Genome Aggregation Database	Global	Study-wide	29904	G=0.832	A=0.167
The Genome Aggregation Database	Other	Sub	302	G=0.690	A=0.310
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.830	A=0.169
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.761	A=0.239

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
rs2888312	7.7E-05	alcoholism (heaviness of drinking)	21529783

eQTL of rs2888312 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 rs2888312 in Fetal Brain

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Enhancer Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr3	43452845	43452979	E067	-31988
chr3	43453040	43453350	E067	-31617
chr3	43509709	43509841	E067	24742
chr3	43521877	43522202	E067	36910
chr3	43522210	43522290	E067	37243
chr3	43522332	43522446	E067	37365
chr3	43452845	43452979	E068	-31988
chr3	43453040	43453350	E068	-31617
chr3	43455232	43455540	E068	-29427
chr3	43509709	43509841	E068	24742
chr3	43515405	43515476	E068	30438
chr3	43452469	43452519	E069	-32448
chr3	43452845	43452979	E069	-31988
chr3	43453040	43453350	E069	-31617
chr3	43453909	43453959	E069	-31008
chr3	43515405	43515476	E069	30438
chr3	43521877	43522202	E069	36910
chr3	43522210	43522290	E069	37243
chr3	43522332	43522446	E069	37365
chr3	43522511	43522598	E069	37544
chr3	43522913	43523351	E069	37946
chr3	43452156	43452321	E070	-32646
chr3	43452469	43452519	E070	-32448
chr3	43453909	43453959	E070	-31008
chr3	43467154	43467235	E070	-17732
chr3	43467458	43467577	E070	-17390
chr3	43515405	43515476	E070	30438
chr3	43516043	43516087	E070	31076
chr3	43516239	43516325	E070	31272
chr3	43452469	43452519	E071	-32448
chr3	43452845	43452979	E071	-31988
chr3	43453040	43453350	E071	-31617
chr3	43453909	43453959	E071	-31008
chr3	43455232	43455540	E071	-29427
chr3	43515405	43515476	E071	30438
chr3	43452845	43452979	E072	-31988
chr3	43453040	43453350	E072	-31617
chr3	43453909	43453959	E072	-31008
chr3	43521877	43522202	E072	36910
chr3	43522210	43522290	E072	37243
chr3	43522332	43522446	E072	37365
chr3	43452469	43452519	E073	-32448
chr3	43452845	43452979	E073	-31988
chr3	43453040	43453350	E073	-31617
chr3	43509709	43509841	E073	24742
chr3	43452845	43452979	E074	-31988
chr3	43453040	43453350	E074	-31617
chr3	43453909	43453959	E074	-31008
chr3	43455232	43455540	E074	-29427
chr3	43509709	43509841	E074	24742
chr3	43521877	43522202	E074	36910
chr3	43522210	43522290	E074	37243
chr3	43522332	43522446	E074	37365
chr3	43452845	43452979	E081	-31988
chr3	43453040	43453350	E081	-31617
chr3	43453040	43453350	E082	-31617

rs2888312

Genomic Coordinates

Gene: ANO10, anoctamin 10(minus strand)

Population Frequency

P-Value

eQTL of rs2888312 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs2888312 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)