rs4640131

Homo sapiens
A>G
OCA2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0095 (2864/29960,GnomAD)
G=0130 (3799/29118,TOPMED)
G=0124 (622/5008,1000G)
G=0060 (232/3854,ALSPAC)
G=0052 (193/3708,TWINSUK)
chr15:28014717 (GRCh38.p7) (15q13.1)
AD
GWASdb2
2   publication(s)
See rs on genome
131 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.28014717A>G
GRCh37.p13 chr 15NC_000015.9:g.28259863A>G
OCA2 RefSeqGeneNG_009846.1:g.89596T>C
GRCh38.p7 chr 15 fix patch HG2139_PATCHNW_011332701.1:g.149017A>G
GRCh38.p7 chr 15 alt locus HSCHR15_4_CTG8NT_187660.1:g.149017A>G

Gene: OCA2, OCA2 melanosomal transmembrane protein(minus strand)

Molecule type Change Amino acid[Codon] SO Term
OCA2 transcript variant 1NM_000275.2:c.N/AIntron Variant
OCA2 transcript variant 2NM_001300984.1:c.N/AIntron Variant
OCA2 transcript variant X2XM_011521640.2:c.N/AIntron Variant
OCA2 transcript variant X1XM_017022255.1:c.N/AIntron Variant
OCA2 transcript variant X3XM_017022256.1:c.N/AIntron Variant
OCA2 transcript variant X4XM_017022257.1:c.N/AIntron Variant
OCA2 transcript variant X5XM_017022258.1:c.N/AIntron Variant
OCA2 transcript variant X6XM_017022259.1:c.N/AIntron Variant
OCA2 transcript variant X7XM_017022260.1:c.N/AIntron Variant
OCA2 transcript variant X8XM_017022261.1:c.N/AIntron Variant
OCA2 transcript variant X9XM_017022262.1:c.N/AIntron Variant
OCA2 transcript variant X10XM_017022263.1:c.N/AIntron Variant
OCA2 transcript variant X11XM_017022264.1:c.N/AIntron Variant
OCA2 transcript variant X12XM_017022265.1:c.N/AIntron Variant
OCA2 transcript variant X13XR_001751294.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.731G=0.269
1000GenomesAmericanSub694A=0.940G=0.060
1000GenomesEast AsianSub1008A=0.995G=0.005
1000GenomesEuropeSub1006A=0.932G=0.068
1000GenomesGlobalStudy-wide5008A=0.876G=0.124
1000GenomesSouth AsianSub978A=0.850G=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.940G=0.060
The Genome Aggregation DatabaseAfricanSub8704A=0.783G=0.217
The Genome Aggregation DatabaseAmericanSub838A=0.940G=0.060
The Genome Aggregation DatabaseEast AsianSub1620A=0.991G=0.009
The Genome Aggregation DatabaseEuropeSub18496A=0.953G=0.046
The Genome Aggregation DatabaseGlobalStudy-wide29960A=0.904G=0.095
The Genome Aggregation DatabaseOtherSub302A=0.830G=0.170
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.869G=0.130
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.948G=0.052
PMID Title Author Journal
17236130A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.Duffy DLAm J Hum Genet
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
rs46401310.000884alcohol consumption (maxi-drinks)24277619

eQTL of rs4640131 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 rs4640131 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 )
chr152826595328266009E0676090
chr152826612128266171E0676258
chr152826678328267386E0676920
chr152826745428267525E0677591
chr152826550328265640E0685640
chr152826658128266761E0686718
chr152826678328267386E0686920
chr152826745428267525E0687591
chr152826760628267687E0687743
chr152826779428267844E0687931
chr152826865028268704E0688787
chr152826658128266761E0696718
chr152826678328267386E0696920
chr152826745428267525E0697591
chr152826760628267687E0697743
chr152826779428267844E0697931
chr152821035428210408E070-49455
chr152821080528210951E070-48912
chr152823499528235131E070-24732
chr152823514728235202E070-24661
chr152823531628235569E070-24294
chr152823574328235966E070-23897
chr152823603128236655E070-23208
chr152823665828236781E070-23082
chr152823690228236996E070-22867
chr152823709228237146E070-22717
chr152825181328252014E070-7849
chr152826379428263874E0703931
chr152826392828263991E0704065
chr152826420228264281E0704339
chr152826455228264783E0704689
chr152826482128265411E0704958
chr152826550328265640E0705640
chr152826566928265896E0705806
chr152826678328267386E0706920
chr152826745428267525E0707591
chr152826760628267687E0707743
chr152826779428267844E0707931
chr152826833728268413E0708474
chr152826865028268704E0708787
chr152826901628269066E0709153
chr152826912628269176E0709263
chr152826937528269425E0709512
chr152827055328270630E07010690
chr152827075228270802E07010889
chr152827089228271488E07011029
chr152827233828272378E07012475
chr152827243528272485E07012572
chr152829690228297008E07037039
chr152829717428297281E07037311
chr152829729828297654E07037435
chr152826595328266009E0716090
chr152826678328267386E0716920
chr152826745428267525E0717591
chr152826745428267525E0727591
chr152826833728268413E0728474
chr152826865028268704E0728787
chr152826566928265896E0735806
chr152826595328266009E0736090
chr152826612128266171E0736258
chr152826745428267525E0737591
chr152826760628267687E0737743
chr152826779428267844E0737931
chr152826865028268704E0738787
chr152823499528235131E081-24732
chr152823514728235202E081-24661
chr152823531628235569E081-24294
chr152823574328235966E081-23897
chr152823603128236655E081-23208
chr152823665828236781E081-23082
chr152823968428239822E081-20041
chr152826637828266422E0816515
chr152826644628266505E0816583
chr152826658128266761E0816718
chr152826678328267386E0816920
chr152826745428267525E0817591
chr152826760628267687E0817743
chr152826779428267844E0817931
chr152826833728268413E0818474
chr152826865028268704E0818787
chr152826990128269951E08110038
chr152827000328270053E08110140
chr152827010528270255E08110242
chr152827034428270394E08110481
chr152827055328270630E08110690
chr152827075228270802E08110889
chr152827089228271488E08111029
chr152827233828272378E08112475
chr152827243528272485E08112572
chr152828333028283991E08123467
chr152828814528288203E08128282
chr152828834828288398E08128485
chr152828857028289370E08128707
chr152828939428289746E08129531
chr152828979628289846E08129933
chr152829572728295817E08135864
chr152829588928295992E08136026
chr152829615928296240E08136296
chr152829933928299508E08139476
chr152830216028302316E08142297
chr152823465928234839E082-25024
chr152823499528235131E082-24732
chr152823514728235202E082-24661
chr152823531628235569E082-24294
chr152823574328235966E082-23897
chr152823603128236655E082-23208
chr152823665828236781E082-23082
chr152823968428239822E082-20041
chr152826482128265411E0824958
chr152826550328265640E0825640
chr152826566928265896E0825806
chr152826658128266761E0826718
chr152826678328267386E0826920
chr152826745428267525E0827591
chr152826760628267687E0827743
chr152826779428267844E0827931
chr152826833728268413E0828474
chr152826937528269425E0829512
chr152827055328270630E08210690
chr152827075228270802E08210889
chr152827089228271488E08211029
chr152828207928282205E08222216
chr152828333028283991E08223467
chr152828857028289370E08228707
chr152828939428289746E08229531
chr152828979628289846E08229933
chr152829690228297008E08237039
chr152829717428297281E08237311
chr152829729828297654E08237435
chr152830155728301607E08241694
chr152830216028302316E08242297