rs11710107

Organism: Homo sapiens

Alleles: A>C

Gene : Feature

ANO10 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0168 (5038/29908,GnomAD)
C=0171 (4981/29118,TOPMED)
C=0145 (728/5008,1000G)
C=0253 (975/3854,ALSPAC)
C=0241 (893/3708,TWINSUK)

Position: chr3:43432422 (GRCh38.p7) (3p22.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 73 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 3	NC_000003.12:g.43432422A>C
GRCh37.p13 chr 3	NC_000003.11:g.43473914A>C
ANO10 RefSeqGene	NG_028216.1:g.194647T>G

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 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 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 X3	XM_011533885.2:c.	N/A	Genic Downstream Transcript 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 X6	XM_017006718.1:c.	N/A	Genic Downstream Transcript Variant
ANO10 transcript variant X12	XR_001740190.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.938	C=0.062
1000Genomes	American	Sub	694	A=0.850	C=0.150
1000Genomes	East Asian	Sub	1008	A=0.887	C=0.113
1000Genomes	Europe	Sub	1006	A=0.736	C=0.264
1000Genomes	Global	Study-wide	5008	A=0.855	C=0.145
1000Genomes	South Asian	Sub	978	A=0.830	C=0.170
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.747	C=0.253
The Genome Aggregation Database	African	Sub	8712	A=0.919	C=0.081
The Genome Aggregation Database	American	Sub	838	A=0.870	C=0.130
The Genome Aggregation Database	East Asian	Sub	1614	A=0.893	C=0.107
The Genome Aggregation Database	Europe	Sub	18444	A=0.785	C=0.214
The Genome Aggregation Database	Global	Study-wide	29908	A=0.831	C=0.168
The Genome Aggregation Database	Other	Sub	300	A=0.680	C=0.320
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.828	C=0.171
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.759	C=0.241

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

SNP ID	p-value	Traits	Study
rs11710107	7.5E-05	alcoholism (heaviness of drinking)	21529783

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

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 )
chr3	43452845	43452979	E067	-20935
chr3	43453040	43453350	E067	-20564
chr3	43509709	43509841	E067	35795
chr3	43521877	43522202	E067	47963
chr3	43522210	43522290	E067	48296
chr3	43522332	43522446	E067	48418
chr3	43430474	43430798	E068	-43116
chr3	43430880	43432024	E068	-41890
chr3	43452845	43452979	E068	-20935
chr3	43453040	43453350	E068	-20564
chr3	43455232	43455540	E068	-18374
chr3	43509709	43509841	E068	35795
chr3	43515405	43515476	E068	41491
chr3	43430474	43430798	E069	-43116
chr3	43430880	43432024	E069	-41890
chr3	43452469	43452519	E069	-21395
chr3	43452845	43452979	E069	-20935
chr3	43453040	43453350	E069	-20564
chr3	43453909	43453959	E069	-19955
chr3	43515405	43515476	E069	41491
chr3	43521877	43522202	E069	47963
chr3	43522210	43522290	E069	48296
chr3	43522332	43522446	E069	48418
chr3	43522511	43522598	E069	48597
chr3	43522913	43523351	E069	48999
chr3	43452156	43452321	E070	-21593
chr3	43452469	43452519	E070	-21395
chr3	43453909	43453959	E070	-19955
chr3	43467154	43467235	E070	-6679
chr3	43467458	43467577	E070	-6337
chr3	43515405	43515476	E070	41491
chr3	43516043	43516087	E070	42129
chr3	43516239	43516325	E070	42325
chr3	43429708	43430125	E071	-43789
chr3	43430474	43430798	E071	-43116
chr3	43430880	43432024	E071	-41890
chr3	43432053	43432179	E071	-41735
chr3	43432283	43432352	E071	-41562
chr3	43432999	43433098	E071	-40816
chr3	43452469	43452519	E071	-21395
chr3	43452845	43452979	E071	-20935
chr3	43453040	43453350	E071	-20564
chr3	43453909	43453959	E071	-19955
chr3	43455232	43455540	E071	-18374
chr3	43515405	43515476	E071	41491
chr3	43452845	43452979	E072	-20935
chr3	43453040	43453350	E072	-20564
chr3	43453909	43453959	E072	-19955
chr3	43521877	43522202	E072	47963
chr3	43522210	43522290	E072	48296
chr3	43522332	43522446	E072	48418
chr3	43432053	43432179	E073	-41735
chr3	43432283	43432352	E073	-41562
chr3	43452469	43452519	E073	-21395
chr3	43452845	43452979	E073	-20935
chr3	43453040	43453350	E073	-20564
chr3	43509709	43509841	E073	35795
chr3	43429708	43430125	E074	-43789
chr3	43430474	43430798	E074	-43116
chr3	43430880	43432024	E074	-41890
chr3	43432053	43432179	E074	-41735
chr3	43452845	43452979	E074	-20935
chr3	43453040	43453350	E074	-20564
chr3	43453909	43453959	E074	-19955
chr3	43455232	43455540	E074	-18374
chr3	43509709	43509841	E074	35795
chr3	43521877	43522202	E074	47963
chr3	43522210	43522290	E074	48296
chr3	43522332	43522446	E074	48418
chr3	43430880	43432024	E081	-41890
chr3	43452845	43452979	E081	-20935
chr3	43453040	43453350	E081	-20564
chr3	43453040	43453350	E082	-20564

rs11710107

Genomic Coordinates

Gene: ANO10, anoctamin 10(minus strand)

Population Frequency

P-Value

eQTL of rs11710107 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs11710107 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)