rs6793661

Homo sapiens
C>T
PRSS46 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0227 (6820/29922,GnomAD)
T=0277 (8069/29118,TOPMED)
T=0251 (1259/5008,1000G)
T=0149 (574/3854,ALSPAC)
T=0149 (551/3708,TWINSUK)
chr3:46736518 (GRCh38.p7) (3p21.31)
AD
GWASdb2
1   publication(s)
See rs on genome
53 Enhancers around
13 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.46736518C>T
GRCh37.p13 chr 3NC_000003.11:g.46778008C>T

Gene: PRSS46, protease, serine 46(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
PRSS46 transcriptNM_001205271.1:c.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.545T=0.455
1000GenomesAmericanSub694C=0.790T=0.210
1000GenomesEast AsianSub1008C=0.879T=0.121
1000GenomesEuropeSub1006C=0.854T=0.146
1000GenomesGlobalStudy-wide5008C=0.749T=0.251
1000GenomesSouth AsianSub978C=0.750T=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.851T=0.149
The Genome Aggregation DatabaseAfricanSub8708C=0.596T=0.404
The Genome Aggregation DatabaseAmericanSub836C=0.770T=0.230
The Genome Aggregation DatabaseEast AsianSub1620C=0.901T=0.099
The Genome Aggregation DatabaseEuropeSub18456C=0.842T=0.157
The Genome Aggregation DatabaseGlobalStudy-wide29922C=0.772T=0.227
The Genome Aggregation DatabaseOtherSub302C=0.850T=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.722T=0.277
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.851T=0.149
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs67936610.000223alcohol dependence20201924

eQTL of rs6793661 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr3:46778008PRSS45ENSG00000188086.8C>T1.8047e-9-75198Cerebellum
Chr3:46778008PRSS45ENSG00000188086.8C>T8.0486e-7-75198Nucleus_accumbens_basal_ganglia

meQTL of rs6793661 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 )
chr34673590446735978E067-42030
chr34673605546736398E067-41610
chr34673642846738419E067-39589
chr34674122446741391E067-36617
chr34674139646741758E067-36250
chr34674183146741886E067-36122
chr34674224946742627E067-35381
chr34673642846738419E068-39589
chr34673845946738584E068-39424
chr34674122446741391E068-36617
chr34674139646741758E068-36250
chr34674183146741886E068-36122
chr34674224946742627E068-35381
chr34674377946743866E068-34142
chr34674391746743991E068-34017
chr34673642846738419E069-39589
chr34674183146741886E069-36122
chr34674224946742627E069-35381
chr34674377946743866E069-34142
chr34674391746743991E069-34017
chr34674637546747178E069-30830
chr34676705546767135E069-10873
chr34676721946767423E069-10585
chr34674377946743866E070-34142
chr34674391746743991E070-34017
chr34673642846738419E071-39589
chr34673845946738584E071-39424
chr34674122446741391E071-36617
chr34674139646741758E071-36250
chr34674183146741886E071-36122
chr34674377946743866E071-34142
chr34674391746743991E071-34017
chr34673590446735978E072-42030
chr34673605546736398E072-41610
chr34673642846738419E072-39589
chr34674122446741391E072-36617
chr34674139646741758E072-36250
chr34674183146741886E072-36122
chr34673590446735978E073-42030
chr34673605546736398E073-41610
chr34673642846738419E073-39589
chr34673845946738584E073-39424
chr34674139646741758E073-36250
chr34674183146741886E073-36122
chr34674224946742627E073-35381
chr34674637546747178E073-30830
chr34674139646741758E074-36250
chr34674183146741886E074-36122
chr34674224946742627E074-35381
chr34674377946743866E074-34142
chr34674224946742627E081-35381
chr34674377946743866E081-34142
chr34674391746743991E081-34017









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr34673403246735874E067-42134
chr34673403246735874E068-42134
chr34673403246735874E069-42134
chr34673403246735874E070-42134
chr34674273246742842E070-35166
chr34673403246735874E071-42134
chr34674273246742842E071-35166
chr34673403246735874E072-42134
chr34674273246742842E072-35166
chr34673403246735874E073-42134
chr34674273246742842E073-35166
chr34673403246735874E074-42134
chr34674273246742842E082-35166