rs11029525

Homo sapiens
A>C
ANO3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0297 (8921/29946,GnomAD)
C=0279 (8142/29118,TOPMED)
C=0340 (1704/5008,1000G)
C=0371 (1431/3854,ALSPAC)
C=0362 (1344/3708,TWINSUK)
chr11:26334327 (GRCh38.p7) (11p14.2)
AD
GWASdb2
1   publication(s)
See rs on genome
7 Enhancers around
29 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.26334327A>C
GRCh37.p13 chr 11NC_000011.9:g.26355874A>C
ANO3 RefSeqGeneNG_042856.1:g.150205A>C

Gene: ANO3, anoctamin 3(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ANO3 transcript variant 1NM_001313726.1:c.N/AIntron Variant
ANO3 transcript variant 2NM_031418.3:c.N/AIntron Variant
ANO3 transcript variant 3NM_001313727.1:c.N/AGenic Upstream Transcript Variant
ANO3 transcript variant X3XM_011520282.2:c.N/AGenic Upstream Transcript Variant
ANO3 transcript variant X1XM_017018118.1:c.N/AGenic Upstream Transcript Variant
ANO3 transcript variant X2XM_017018119.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.893C=0.107
1000GenomesAmericanSub694A=0.480C=0.520
1000GenomesEast AsianSub1008A=0.589C=0.411
1000GenomesEuropeSub1006A=0.630C=0.370
1000GenomesGlobalStudy-wide5008A=0.660C=0.340
1000GenomesSouth AsianSub978A=0.570C=0.430
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.629C=0.371
The Genome Aggregation DatabaseAfricanSub8726A=0.857C=0.143
The Genome Aggregation DatabaseAmericanSub838A=0.490C=0.510
The Genome Aggregation DatabaseEast AsianSub1608A=0.597C=0.403
The Genome Aggregation DatabaseEuropeSub18472A=0.648C=0.351
The Genome Aggregation DatabaseGlobalStudy-wide29946A=0.702C=0.297
The Genome Aggregation DatabaseOtherSub302A=0.670C=0.330
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.720C=0.279
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.638C=0.362
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs110295253.33E-05alcohol consumption23743675

eQTL of rs11029525 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 rs11029525 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 )
chr112632461126325106E071-30768
chr112634972926349855E081-6019
chr112634997526350160E081-5714
chr112635020126350359E081-5515
chr112635055026351341E081-4533
chr112635141626351466E081-4408
chr112635166626351739E081-4135


Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr112630588626306061E068-49813
chr112630606826306217E068-49657
chr112630631626306824E068-49050
chr112635311726354358E068-1516
chr112635437526354552E068-1322
chr112630588626306061E069-49813
chr112630606826306217E069-49657
chr112630631626306824E069-49050
chr112635311726354358E069-1516
chr112635437526354552E069-1322
chr112635311726354358E070-1516
chr112630588626306061E071-49813
chr112630606826306217E071-49657
chr112630631626306824E071-49050
chr112635311726354358E071-1516
chr112635437526354552E071-1322
chr112630588626306061E072-49813
chr112630606826306217E072-49657
chr112630631626306824E072-49050
chr112635311726354358E072-1516
chr112635437526354552E072-1322
chr112630588626306061E073-49813
chr112630606826306217E073-49657
chr112635311726354358E073-1516
chr112635437526354552E073-1322
chr112635311726354358E081-1516
chr112635437526354552E081-1322
chr112635311726354358E082-1516
chr112635437526354552E082-1322