rs8048150

Homo sapiens
T>C
VAT1L : Intron Variant
LOC107984878 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0405 (12131/29912,GnomAD)
C=0352 (10255/29118,TOPMED)
C=0410 (2055/5008,1000G)
chr16:77812766 (GRCh38.p7) (16q23.1)
AD
GWASdb2
1   publication(s)
See rs on genome
13 Enhancers around
42 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.77812766T>C
GRCh37.p13 chr 16NC_000016.9:g.77846663T>C

Gene: VAT1L, vesicle amine transport 1-like(plus strand)

Molecule type Change Amino acid[Codon] SO Term
VAT1L transcriptNM_020927.2:c.N/AIntron Variant

Gene: LOC107984878, uncharacterized LOC107984878(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC107984878 transcript variant X2XR_001752257.1:n.N/AIntron Variant
LOC107984878 transcript variant X4XR_001752258.1:n.N/AIntron Variant
LOC107984878 transcript variant X5XR_001752259.1:n.N/AIntron Variant
LOC107984878 transcript variant X5XR_001752261.1:n.N/AIntron Variant
LOC107984878 transcript variant X6XR_001752262.1:n.N/AIntron Variant
LOC107984878 transcript variant X8XR_001752264.1:n.N/AIntron Variant
LOC107984878 transcript variant X3XR_001752260.1:n.N/AGenic Upstream Transcript Variant
LOC107984878 transcript variant X6XR_001752263.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.694C=0.306
1000GenomesAmericanSub694T=0.650C=0.350
1000GenomesEast AsianSub1008T=0.428C=0.572
1000GenomesEuropeSub1006T=0.578C=0.422
1000GenomesGlobalStudy-wide5008T=0.590C=0.410
1000GenomesSouth AsianSub978T=0.590C=0.410
The Genome Aggregation DatabaseAfricanSub8706T=0.695C=0.305
The Genome Aggregation DatabaseAmericanSub836T=0.670C=0.330
The Genome Aggregation DatabaseEast AsianSub1614T=0.452C=0.548
The Genome Aggregation DatabaseEuropeSub18456T=0.555C=0.445
The Genome Aggregation DatabaseGlobalStudy-wide29912T=0.594C=0.405
The Genome Aggregation DatabaseOtherSub300T=0.640C=0.360
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.647C=0.352
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
rs80481500.000201alcohol consumption23743675

eQTL of rs8048150 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 rs8048150 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 )
chr167779833377798601E068-48062
chr167779833377798601E069-48062
chr167782167877821745E069-24918
chr167783845677838526E070-8137
chr167783862177838722E070-7941
chr167779833377798601E074-48062
chr167779864977798846E074-47817
chr167783830377838399E081-8264
chr167783845677838526E081-8137
chr167783862177838722E081-7941
chr167782144877821491E082-25172
chr167783845677838526E082-8137
chr167783862177838722E082-7941






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr167782175977823019E067-23644
chr167782302577823142E067-23521
chr167782384777824192E067-22471
chr167782175977823019E068-23644
chr167782302577823142E068-23521
chr167782323077823645E068-23018
chr167782365377823723E068-22940
chr167782372977823827E068-22836
chr167782384777824192E068-22471
chr167782423977824440E068-22223
chr167782464877824717E068-21946
chr167782175977823019E069-23644
chr167782302577823142E069-23521
chr167782323077823645E069-23018
chr167782365377823723E069-22940
chr167782372977823827E069-22836
chr167782384777824192E069-22471
chr167782372977823827E070-22836
chr167782384777824192E070-22471
chr167782175977823019E071-23644
chr167782302577823142E071-23521
chr167782175977823019E072-23644
chr167782302577823142E072-23521
chr167782365377823723E072-22940
chr167782372977823827E072-22836
chr167782384777824192E072-22471
chr167782175977823019E073-23644
chr167782302577823142E073-23521
chr167782323077823645E073-23018
chr167782365377823723E073-22940
chr167782372977823827E073-22836
chr167782384777824192E073-22471
chr167782175977823019E074-23644
chr167782302577823142E074-23521
chr167782323077823645E074-23018
chr167782365377823723E074-22940
chr167782372977823827E074-22836
chr167782175977823019E082-23644
chr167782302577823142E082-23521
chr167782323077823645E082-23018
chr167782423977824440E082-22223
chr167782464877824717E082-21946