rs11854297

Homo sapiens
T>C
AQP9 : Intron Variant
LOC101928635 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0100 (3001/29976,GnomAD)
T==0163 (817/5008,1000G)
T==0044 (169/3854,ALSPAC)
T==0040 (150/3708,TWINSUK)
chr15:58182926 (GRCh38.p7) (15q21.3)
AD
GWASdb2
1   publication(s)
See rs on genome
82 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.58182926T>C
GRCh37.p13 chr 15NC_000015.9:g.58475125T>C
AQP9 RefSeqGeneNG_011975.2:g.49718T>C

Gene: AQP9, aquaporin 9(plus strand)

Molecule type Change Amino acid[Codon] SO Term
AQP9 transcript variant 2NM_001320635.1:c.N/AIntron Variant
AQP9 transcript variant 3NM_001320636.1:c.N/AIntron Variant
AQP9 transcript variant 1NM_020980.4:c.N/AIntron Variant

Gene: LOC101928635, uncharacterized LOC101928635(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC101928635 transcript variant X1XM_011522293.2:c.N/AGenic Downstream Transcript Variant
LOC101928635 transcript variant X12XR_001751559.1:n.N/AIntron Variant
LOC101928635 transcript variant X9XR_001751556.1:n.N/AGenic Downstream Transcript Variant
LOC101928635 transcript variant X10XR_001751557.1:n.N/AGenic Downstream Transcript Variant
LOC101928635 transcript variant X11XR_001751558.1:n.N/AGenic Downstream Transcript Variant
LOC101928635 transcript variant X13XR_001751560.1:n.N/AGenic Downstream Transcript Variant
LOC101928635 transcript variant X8XR_001751561.1:n.N/AGenic Downstream Transcript Variant
LOC101928635 transcript variant X10XR_001751562.1:n.N/AGenic Downstream Transcript Variant
LOC101928635 transcript variant X5XR_001751563.1:n.N/AGenic Downstream Transcript Variant
LOC101928635 transcript variant X12XR_001751564.1:n.N/AGenic Downstream Transcript Variant
LOC101928635 transcript variant X7XR_001751565.1:n.N/AGenic Downstream Transcript Variant
LOC101928635 transcript variant X15XR_001751566.1:n.N/AGenic Downstream Transcript Variant
LOC101928635 transcript variant X3XR_429537.3:n.N/AGenic Downstream Transcript Variant
LOC101928635 transcript variant X13XR_932292.2:n.N/AGenic Downstream Transcript Variant
LOC101928635 transcript variant X16XR_932293.2:n.N/AGenic Downstream Transcript Variant
LOC101928635 transcript variant X18XR_932294.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.290C=0.710
1000GenomesAmericanSub694T=0.080C=0.920
1000GenomesEast AsianSub1008T=0.190C=0.810
1000GenomesEuropeSub1006T=0.054C=0.946
1000GenomesGlobalStudy-wide5008T=0.163C=0.837
1000GenomesSouth AsianSub978T=0.130C=0.870
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.044C=0.956
The Genome Aggregation DatabaseAfricanSub8714T=0.213C=0.787
The Genome Aggregation DatabaseAmericanSub838T=0.070C=0.930
The Genome Aggregation DatabaseEast AsianSub1618T=0.211C=0.789
The Genome Aggregation DatabaseEuropeSub18504T=0.039C=0.960
The Genome Aggregation DatabaseGlobalStudy-wide29976T=0.100C=0.899
The Genome Aggregation DatabaseOtherSub302T=0.030C=0.970
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.040C=0.960
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs118542970.000515alcohol dependence21314694

eQTL of rs11854297 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 rs11854297 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 )
chr155851621358516692E06741088
chr155851673958516789E06741614
chr155852074158522106E06745616
chr155852215758522318E06747032
chr155852252158522582E06747396
chr155852271358522850E06747588
chr155852290858522980E06747783
chr155852299758523082E06747872
chr155852312958523217E06748004
chr155851621358516692E06841088
chr155851673958516789E06841614
chr155852074158522106E06845616
chr155852252158522582E06847396
chr155852271358522850E06847588
chr155852290858522980E06847783
chr155852299758523082E06847872
chr155852312958523217E06848004
chr155850512958505565E06930004
chr155851621358516692E06941088
chr155851673958516789E06941614
chr155851696058517046E06941835
chr155851987958520649E06944754
chr155852074158522106E06945616
chr155852271358522850E06947588
chr155852290858522980E06947783
chr155852299758523082E06947872
chr155845871558458765E070-16360
chr155845921858459807E070-15318
chr155849347758493608E07018352
chr155849362658493776E07018501
chr155849380858494033E07018683
chr155852215758522318E07047032
chr155849347758493608E07118352
chr155851621358516692E07141088
chr155851673958516789E07141614
chr155851696058517046E07141835
chr155851987958520649E07144754
chr155852074158522106E07145616
chr155852215758522318E07147032
chr155852252158522582E07147396
chr155852271358522850E07147588
chr155852290858522980E07147783
chr155852299758523082E07147872
chr155847466758475099E072-26
chr155849347758493608E07218352
chr155849362658493776E07218501
chr155851621358516692E07241088
chr155851673958516789E07241614
chr155851987958520649E07244754
chr155852074158522106E07245616
chr155852252158522582E07247396
chr155852271358522850E07247588
chr155852290858522980E07247783
chr155852299758523082E07247872
chr155852312958523217E07248004
chr155849347758493608E07318352
chr155849362658493776E07318501
chr155851621358516692E07341088
chr155851673958516789E07341614
chr155851987958520649E07344754
chr155852074158522106E07345616
chr155852215758522318E07347032
chr155852252158522582E07347396
chr155852271358522850E07347588
chr155852290858522980E07347783
chr155852299758523082E07347872
chr155852312958523217E07348004
chr155851621358516692E07441088
chr155851673958516789E07441614
chr155851696058517046E07441835
chr155852252158522582E07447396
chr155852271358522850E07447588
chr155852290858522980E07447783
chr155852299758523082E07447872
chr155852312958523217E07448004
chr155845684558456928E081-18197
chr155849347758493608E08118352
chr155849362658493776E08118501
chr155851621358516692E08141088
chr155851673958516789E08141614
chr155851696058517046E08141835
chr155851823558518319E08143110