rs4810479

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0321 (9622/29918,GnomAD)
C==0340 (9900/29118,TOPMED)
C==0454 (2274/5008,1000G)
C==0249 (961/3854,ALSPAC)
C==0242 (899/3708,TWINSUK)
chr20:45916409 (GRCh38.p7) (20q13.12)
AD
GWASdb2
10   publication(s)
See rs on genome
109 Enhancers around
37 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.45916409C>T
GRCh37.p13 chr 20NC_000020.10:g.44545048C>T
PLTP RefSeqGeneNG_012115.1:g.739G>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.398T=0.602
1000GenomesAmericanSub694C=0.470T=0.530
1000GenomesEast AsianSub1008C=0.629T=0.371
1000GenomesEuropeSub1006C=0.288T=0.712
1000GenomesGlobalStudy-wide5008C=0.454T=0.546
1000GenomesSouth AsianSub978C=0.510T=0.490
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.249T=0.751
The Genome Aggregation DatabaseAfricanSub8710C=0.394T=0.606
The Genome Aggregation DatabaseAmericanSub836C=0.530T=0.470
The Genome Aggregation DatabaseEast AsianSub1612C=0.614T=0.386
The Genome Aggregation DatabaseEuropeSub18458C=0.253T=0.746
The Genome Aggregation DatabaseGlobalStudy-wide29918C=0.321T=0.678
The Genome Aggregation DatabaseOtherSub302C=0.270T=0.730
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.340T=0.660
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.242T=0.758
PMID Title Author Journal
19936222Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.Chasman DIPLoS Genet
21283740Large-scale candidate gene analysis of HDL particle features.Kaess BMPLoS One
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
21597005An increased burden of common and rare lipid-associated risk alleles contributes to the phenotypic spectrum of hypertriglyceridemia.Johansen CTArterioscler Thromb Vasc Biol
26009633PLTP activity inversely correlates with CAAD: effects of PON1 enzyme activity and genetic variants on PLTP activity.Kim DSJ Lipid Res
21736953Role of plasma phospholipid transfer protein in lipid and lipoprotein metabolism.Albers JJBiochim Biophys Acta
19965587Genetic and nongenetic sources of variation in phospholipid transfer protein activity.Jarvik GPJ Lipid Res
21041806Genetic determinants of plasma triglycerides.Johansen CTJ Lipid Res
22315312Genetic predisposition to dyslipidemia and type 2 diabetes risk in two prospective cohorts.Qi QDiabetes
22629316Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.Musunuru KPLoS One

P-Value

SNP ID p-value Traits Study
rs48104790.000333alcohol dependence20201924

eQTL of rs4810479 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 rs4810479 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 )
chr204451851544518565E067-26483
chr204452140544522134E067-22914
chr204451236744512655E068-32393
chr204451269944512947E068-32101
chr204451821244518330E068-26718
chr204451851544518565E068-26483
chr204453818944538281E068-6767
chr204453832244538403E068-6645
chr204453849944538988E068-6060
chr204454150144541556E068-3492
chr204454744744547608E0682399
chr204454763244547877E0682584
chr204454799144548082E0682943
chr204454818944549428E0683141
chr204454952244549716E0684474
chr204454976144549945E0684713
chr204455008144550192E0685033
chr204455043744550505E0685389
chr204455050844550682E0685460
chr204455076144550842E0685713
chr204455307244553559E0688024
chr204451060844510658E069-34390
chr204451080044510882E069-34166
chr204451093744510983E069-34065
chr204455285344552919E0697805
chr204455307244553559E0698024
chr204450906344509168E070-35880
chr204450919344509278E070-35770
chr204451851544518565E070-26483
chr204452140544522134E070-22914
chr204452233244522435E070-22613
chr204452243644522551E070-22497
chr204455533644555762E07010288
chr204456558744565650E07020539
chr204456582044565947E07020772
chr204456600744566248E07020959
chr204451080044510882E071-34166
chr204451093744510983E071-34065
chr204453832244538403E071-6645
chr204453849944538988E071-6060
chr204454639044546731E0711342
chr204454678544547407E0711737
chr204454744744547608E0712399
chr204454763244547877E0712584
chr204454799144548082E0712943
chr204454818944549428E0713141
chr204455307244553559E0718024
chr204456487044564932E07119822
chr204456510544565224E07120057
chr204456525544565355E07120207
chr204456539644565582E07120348
chr204456558744565650E07120539
chr204456582044565947E07120772
chr204456600744566248E07120959
chr204456640044566749E07121352
chr204456686544566951E07121817
chr204456704844567098E07122000
chr204451269944512947E072-32101
chr204453832244538403E072-6645
chr204453849944538988E072-6060
chr204454678544547407E0721737
chr204455367244553819E0728624
chr204455396444554112E0728916
chr204456640044566749E07221352
chr204451060844510658E073-34390
chr204451080044510882E073-34166
chr204451093744510983E073-34065
chr204451202144512118E073-32930
chr204451217244512231E073-32817
chr204451226344512330E073-32718
chr204451236744512655E073-32393
chr204451358544514088E073-30960
chr204452140544522134E073-22914
chr204453849944538988E073-6060
chr204454639044546731E0731342
chr204454678544547407E0731737
chr204454818944549428E0733141
chr204455043744550505E0735389
chr204455050844550682E0735460
chr204455115044551467E0736102
chr204456600744566248E07320959
chr204456640044566749E07321352
chr204450312444503446E074-41602
chr204454952244549716E0744474
chr204455285344552919E0747805
chr204455307244553559E0748024
chr204456487044564932E07419822
chr204451060844510658E081-34390
chr204451080044510882E081-34166
chr204451093744510983E081-34065
chr204451236744512655E081-32393
chr204451269944512947E081-32101
chr204453802044538158E081-6890
chr204453818944538281E081-6767
chr204453832244538403E081-6645
chr204453849944538988E081-6060
chr204455307244553559E0818024
chr204456159244561746E08116544
chr204451120544511628E082-33420
chr204451170244511837E082-33211
chr204451184644511886E082-33162
chr204451190644511975E082-33073
chr204451202144512118E082-32930
chr204451217244512231E082-32817
chr204451226344512330E082-32718
chr204451236744512655E082-32393
chr204451748244517722E082-27326
chr204451772644517946E082-27102
chr204451851544518565E082-26483










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr204450944844510451E067-34597
chr204451860444521322E067-23726
chr204453908844541437E067-3611
chr204456176344564769E06716715
chr204450944844510451E068-34597
chr204451860444521322E068-23726
chr204453908844541437E068-3611
chr204456176344564769E06816715
chr204450944844510451E069-34597
chr204451860444521322E069-23726
chr204453908844541437E069-3611
chr204456176344564769E06916715
chr204450944844510451E070-34597
chr204451860444521322E070-23726
chr204453908844541437E070-3611
chr204456176344564769E07016715
chr204450944844510451E071-34597
chr204451860444521322E071-23726
chr204453908844541437E071-3611
chr204456176344564769E07116715
chr204450944844510451E072-34597
chr204451860444521322E072-23726
chr204453908844541437E072-3611
chr204456176344564769E07216715
chr204451860444521322E073-23726
chr204453908844541437E073-3611
chr204456176344564769E07316715
chr204450944844510451E074-34597
chr204451860444521322E074-23726
chr204453908844541437E074-3611
chr204456176344564769E07416715
chr204450944844510451E081-34597
chr204456176344564769E08116715
chr204450944844510451E082-34597
chr204451860444521322E082-23726
chr204453908844541437E082-3611
chr204456176344564769E08216715