rs3740046

Homo sapiens
C>T
HTR7 : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0152 (4552/29918,GnomAD)
T=0137 (3998/29118,TOPMED)
T=0136 (679/5008,1000G)
T=0152 (584/3854,ALSPAC)
T=0159 (590/3708,TWINSUK)
chr10:90741711 (GRCh38.p7) (10q23.31)
AD
GWASdb2
1   publication(s)
See rs on genome
4 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.90741711C>T
GRCh37.p13 chr 10NC_000010.10:g.92501468C>T
HTR7 RefSeqGeneNG_029218.1:g.121204G>A

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

Molecule type Change Amino acid[Codon] SO Term
HTR7 transcript variant aNM_000872.4:c.N/A3 Prime UTR Variant
HTR7 transcript variant dNM_019859.3:c.N/A3 Prime UTR Variant
HTR7 transcript variant bNM_019860.3:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.936T=0.064
1000GenomesAmericanSub694C=0.910T=0.090
1000GenomesEast AsianSub1008C=0.798T=0.202
1000GenomesEuropeSub1006C=0.833T=0.167
1000GenomesGlobalStudy-wide5008C=0.864T=0.136
1000GenomesSouth AsianSub978C=0.830T=0.170
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.848T=0.152
The Genome Aggregation DatabaseAfricanSub8708C=0.913T=0.087
The Genome Aggregation DatabaseAmericanSub838C=0.930T=0.070
The Genome Aggregation DatabaseEast AsianSub1596C=0.766T=0.234
The Genome Aggregation DatabaseEuropeSub18474C=0.820T=0.179
The Genome Aggregation DatabaseGlobalStudy-wide29918C=0.847T=0.152
The Genome Aggregation DatabaseOtherSub302C=0.840T=0.160
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.862T=0.137
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.841T=0.159
PMID Title Author Journal
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
rs37400460.000283alcohol consumption (maxi-drinks)24277619

eQTL of rs3740046 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 rs3740046 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 )
chr109249862192498678E082-2790
chr109249868292499065E082-2403
chr109249973092499854E082-1614
chr109250182192502285E082353