rs11186320

Homo sapiens
T>C
HTR7 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0369 (11066/29922,GnomAD)
C=0390 (11364/29118,TOPMED)
C=0421 (2110/5008,1000G)
C=0282 (1088/3854,ALSPAC)
C=0280 (1040/3708,TWINSUK)
chr10:90816691 (GRCh38.p7) (10q23.31)
AD
GWASdb2
2   publication(s)
See rs on genome
0 Enhancer around
11 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.90816691T>C
GRCh37.p13 chr 10NC_000010.10:g.92576448T>C
HTR7 RefSeqGeneNG_029218.1:g.46224A>G

Gene: HTR7, 5-hydroxytryptamine receptor 7(minus strand)

Molecule type Change Amino acid[Codon] SO Term
HTR7 transcript variant aNM_000872.4:c.N/AIntron Variant
HTR7 transcript variant dNM_019859.3:c.N/AIntron Variant
HTR7 transcript variant bNM_019860.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.436C=0.564
1000GenomesAmericanSub694T=0.620C=0.380
1000GenomesEast AsianSub1008T=0.577C=0.423
1000GenomesEuropeSub1006T=0.695C=0.305
1000GenomesGlobalStudy-wide5008T=0.579C=0.421
1000GenomesSouth AsianSub978T=0.620C=0.380
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.718C=0.282
The Genome Aggregation DatabaseAfricanSub8706T=0.484C=0.516
The Genome Aggregation DatabaseAmericanSub838T=0.630C=0.370
The Genome Aggregation DatabaseEast AsianSub1608T=0.554C=0.446
The Genome Aggregation DatabaseEuropeSub18468T=0.703C=0.296
The Genome Aggregation DatabaseGlobalStudy-wide29922T=0.630C=0.369
The Genome Aggregation DatabaseOtherSub302T=0.740C=0.260
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.609C=0.390
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.720C=0.280
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
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs111863200.00063alcohol consumption (maxi-drinks)24277619
rs111863200.000792alcohol dependence21314694

eQTL of rs11186320 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 rs11186320 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.

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr109261595792618611E06739509
chr109261595792618611E06839509
chr109261595792618611E06939509
chr109261595792618611E07139509
chr109261595792618611E07239509
chr109261595792618611E07339509
chr109261595792618611E07439509
chr109261475592614846E08238307
chr109261555192615609E08239103
chr109261574592615805E08239297
chr109261595792618611E08239509