rs7607379

Homo sapiens
C>T
UPP2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0415 (12389/29836,GnomAD)
C==0390 (11372/29118,TOPMED)
T=0462 (2313/5008,1000G)
C==0402 (1548/3854,ALSPAC)
C==0402 (1489/3708,TWINSUK)
chr2:158071694 (GRCh38.p7) (2q24.1)
AD
GWASdb2
1   publication(s)
See rs on genome
18 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.158071694C>T
GRCh37.p13 chr 2NC_000002.11:g.158928206C>T

Gene: UPP2, uridine phosphorylase 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
UPP2 transcript variant 2NM_001135098.1:c.N/AIntron Variant
UPP2 transcript variant 1NM_173355.3:c.N/AGenic Upstream Transcript Variant
UPP2 transcript variant X4XM_005246359.3:c.N/AGenic Upstream Transcript Variant
UPP2 transcript variant X3XM_017003484.1:c.N/AGenic Upstream Transcript Variant
UPP2 transcript variant X1XR_001738652.1:n.N/AGenic Upstream Transcript Variant
UPP2 transcript variant X2XR_922880.2:n.N/AGenic Upstream Transcript Variant
UPP2 transcript variant X5XR_922881.2:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.298T=0.702
1000GenomesAmericanSub694C=0.430T=0.570
1000GenomesEast AsianSub1008C=0.937T=0.063
1000GenomesEuropeSub1006C=0.426T=0.574
1000GenomesGlobalStudy-wide5008C=0.538T=0.462
1000GenomesSouth AsianSub978C=0.640T=0.360
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.402T=0.598
The Genome Aggregation DatabaseAfricanSub8674C=0.328T=0.672
The Genome Aggregation DatabaseAmericanSub836C=0.490T=0.510
The Genome Aggregation DatabaseEast AsianSub1614C=0.937T=0.063
The Genome Aggregation DatabaseEuropeSub18410C=0.405T=0.594
The Genome Aggregation DatabaseGlobalStudy-wide29836C=0.415T=0.584
The Genome Aggregation DatabaseOtherSub302C=0.480T=0.520
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.390T=0.609
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.402T=0.598
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
rs76073790.00093alcohol dependence20201924

eQTL of rs7607379 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 rs7607379 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 )
chr2158936211158936455E0688005
chr2158890789158891233E070-36973
chr2158895122158895270E070-32936
chr2158898016158898377E070-29829
chr2158898716158899052E070-29154
chr2158899347158899603E070-28603
chr2158900091158900353E070-27853
chr2158972032158972080E07043826
chr2158972161158972259E07043955
chr2158977620158977670E07049414
chr2158978014158978064E07049808
chr2158972032158972080E07143826
chr2158972161158972259E07143955
chr2158977299158977465E08149093
chr2158977620158977670E08149414
chr2158971841158971972E08243635
chr2158972032158972080E08243826
chr2158972161158972259E08243955