rs12797615

Homo sapiens
T>C
ME3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0217 (6513/29934,GnomAD)
C=0202 (5893/29118,TOPMED)
C=0149 (744/5008,1000G)
C=0341 (1316/3854,ALSPAC)
C=0320 (1187/3708,TWINSUK)
chr11:86555641 (GRCh38.p7) (11q14.2)
ND
GWASdb2
1   publication(s)
See rs on genome
90 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.86555641T>C
GRCh37.p13 chr 11NC_000011.9:g.86266683T>C

Gene: ME3, malic enzyme 3(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ME3 transcript variant 2NM_001014811.1:c.N/AIntron Variant
ME3 transcript variant 3NM_001161586.1:c.N/AIntron Variant
ME3 transcript variant 1NM_006680.2:c.N/AIntron Variant
ME3 transcript variant X2XM_005273717.1:c.N/AIntron Variant
ME3 transcript variant X1XM_017017136.1:c.N/AIntron Variant
ME3 transcript variant X15XM_017017138.1:c.N/AIntron Variant
ME3 transcript variant X3XM_017017137.1:c.N/AGenic Upstream Transcript Variant
ME3 transcript variant X3XR_001747735.1:n.N/AIntron Variant
ME3 transcript variant X6XR_001747736.1:n.N/AIntron Variant
ME3 transcript variant X7XR_001747737.1:n.N/AIntron Variant
ME3 transcript variant X8XR_001747738.1:n.N/AIntron Variant
ME3 transcript variant X10XR_001747739.1:n.N/AIntron Variant
ME3 transcript variant X9XR_001747740.1:n.N/AIntron Variant
ME3 transcript variant X12XR_001747741.1:n.N/AIntron Variant
ME3 transcript variant X13XR_001747742.1:n.N/AIntron Variant
ME3 transcript variant X15XR_001747743.1:n.N/AIntron Variant
ME3 transcript variant X16XR_001747744.1:n.N/AIntron Variant
ME3 transcript variant X16XR_001747745.1:n.N/AIntron Variant
ME3 transcript variant X17XR_001747746.1:n.N/AIntron Variant
ME3 transcript variant X20XR_001747747.1:n.N/AIntron Variant
ME3 transcript variant X21XR_001747748.1:n.N/AIntron Variant
ME3 transcript variant X22XR_001747749.1:n.N/AIntron Variant
ME3 transcript variant X2XR_949760.2:n.N/AIntron Variant
ME3 transcript variant X9XR_949761.2:n.N/AIntron Variant
ME3 transcript variant X14XR_949766.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.958C=0.042
1000GenomesAmericanSub694T=0.800C=0.200
1000GenomesEast AsianSub1008T=0.949C=0.051
1000GenomesEuropeSub1006T=0.713C=0.287
1000GenomesGlobalStudy-wide5008T=0.851C=0.149
1000GenomesSouth AsianSub978T=0.780C=0.220
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.659C=0.341
The Genome Aggregation DatabaseAfricanSub8722T=0.917C=0.083
The Genome Aggregation DatabaseAmericanSub838T=0.770C=0.230
The Genome Aggregation DatabaseEast AsianSub1622T=0.951C=0.049
The Genome Aggregation DatabaseEuropeSub18452T=0.704C=0.295
The Genome Aggregation DatabaseGlobalStudy-wide29934T=0.782C=0.217
The Genome Aggregation DatabaseOtherSub300T=0.770C=0.230
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.797C=0.202
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.680C=0.320
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs127976154.28E-05nicotine smoking19268276

eQTL of rs12797615 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 rs12797615 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 )
chr118622989286231005E067-35678
chr118623109386231159E067-35524
chr118623123586231448E067-35235
chr118625873386260117E067-6566
chr118628983686290001E06723153
chr118629026586290757E06723582
chr118630781886308695E06741135
chr118622989286231005E068-35678
chr118625873386260117E068-6566
chr118626998986271050E0683306
chr118627721286277262E06810529
chr118627727186277321E06810588
chr118629954186300141E06832858
chr118630306586304546E06836382
chr118625873386260117E069-6566
chr118629398186294066E06927298
chr118629954186300141E06932858
chr118630781886308695E06941135
chr118622968286229793E070-36890
chr118622989286231005E070-35678
chr118623109386231159E070-35524
chr118623123586231448E070-35235
chr118623154386231597E070-35086
chr118629881586299535E07032132
chr118629954186300141E07032858
chr118630015586300261E07033472
chr118630030886300424E07033625
chr118622989286231005E071-35678
chr118625873386260117E071-6566
chr118630781886308695E07141135
chr118623109386231159E072-35524
chr118625873386260117E072-6566
chr118628983686290001E07223153
chr118622268386222776E073-43907
chr118622283086222880E073-43803
chr118622968286229793E073-36890
chr118622989286231005E073-35678
chr118626998986271050E0733306
chr118628742986287519E07320746
chr118628754786287601E07320864
chr118628769586287765E07321012
chr118628777586288346E07321092
chr118628844386288762E07321760
chr118628876886289792E07322085
chr118629840386298477E07331720
chr118629851186298569E07331828
chr118629954186300141E07332858
chr118630306586304546E07336382
chr118630781886308695E07341135
chr118626998986271050E0743306
chr118630781886308695E07441135
chr118622775186227934E081-38749
chr118622922586229543E081-37140
chr118622968286229793E081-36890
chr118622989286231005E081-35678
chr118623109386231159E081-35524
chr118623123586231448E081-35235
chr118623154386231597E081-35086
chr118623163786231759E081-34924
chr118625873386260117E081-6566
chr118626042986260484E081-6199
chr118626066586260732E081-5951
chr118626073886260792E081-5891
chr118626111586261165E081-5518
chr118626152286261650E081-5033
chr118626178486261870E081-4813
chr118626193386262080E081-4603
chr118626212886262259E081-4424
chr118626226686263023E081-3660
chr118626307286263717E081-2966
chr118626613086267162E0810
chr118626742386267940E081740
chr118629954186300141E08132858
chr118630015586300261E08133472
chr118622922586229543E082-37140
chr118622968286229793E082-36890
chr118622989286231005E082-35678
chr118623109386231159E082-35524
chr118623123586231448E082-35235
chr118625873386260117E082-6566
chr118626042986260484E082-6199
chr118626066586260732E082-5951
chr118626073886260792E082-5891
chr118627644286276522E0829759
chr118627681186276976E08210128
chr118627700786277057E08210324
chr118627709986277207E08210416
chr118627721286277262E08210529
chr118627727186277321E08210588
chr118630781886308695E08241135