rs3212369

Homo sapiens
A>G
MC1R : 3 Prime UTR Variant
TUBB3 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0221 (6617/29914,GnomAD)
G=0268 (7821/29118,TOPMED)
G=0231 (1159/5008,1000G)
G=0158 (608/3854,ALSPAC)
G=0174 (646/3708,TWINSUK)
chr16:89920352 (GRCh38.p7) (16q24.3)
AD
GWASdb2
3   publication(s)
See rs on genome
79 Enhancers around
52 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.89920352A>G
GRCh37.p13 chr 16NC_000016.9:g.89986760A>G
TUBB3 RefSeqGeneNG_027810.1:g.3344A>G
MC1R RefSeqGeneNG_012026.1:g.7474A>G

Gene: MC1R, melanocortin 1 receptor(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MC1R transcriptNM_002386.3:c.N/A3 Prime UTR Variant

Gene: TUBB3, tubulin beta 3 class III(plus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
TUBB3 transcript variant 2NM_001197181.1:c.N/AUpstream Transcript Variant
TUBB3 transcript variant 1NM_006086.3:c.N/AN/A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.613G=0.387
1000GenomesAmericanSub694A=0.870G=0.130
1000GenomesEast AsianSub1008A=0.708G=0.292
1000GenomesEuropeSub1006A=0.841G=0.159
1000GenomesGlobalStudy-wide5008A=0.769G=0.231
1000GenomesSouth AsianSub978A=0.890G=0.110
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.842G=0.158
The Genome Aggregation DatabaseAfricanSub8700A=0.636G=0.364
The Genome Aggregation DatabaseAmericanSub838A=0.890G=0.110
The Genome Aggregation DatabaseEast AsianSub1618A=0.707G=0.293
The Genome Aggregation DatabaseEuropeSub18456A=0.846G=0.153
The Genome Aggregation DatabaseGlobalStudy-wide29914A=0.778G=0.221
The Genome Aggregation DatabaseOtherSub302A=0.850G=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.731G=0.268
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.826G=0.174
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
26921301Latitudinal Clines of the Human Vitamin D Receptor and Skin Color Genes.Tiosano DG3 (Bethesda)
17999355A genomewide association study of skin pigmentation in a South Asian population.Stokowski RPAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs32123690.000378alcohol dependence20201924

eQTL of rs3212369 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 rs3212369 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 )
chr168997533789975538E067-11222
chr168997565489975947E067-10813
chr168997611689977523E067-9237
chr168998215589982780E067-3980
chr169001664990016713E06729889
chr168997611689977523E068-9237
chr168998178289982057E068-4703
chr168998215589982780E068-3980
chr169001664990016713E06829889
chr168995151789951647E069-35113
chr168995171189951797E069-34963
chr168995191489952009E069-34751
chr168997611689977523E069-9237
chr168998178289982057E069-4703
chr168998215589982780E069-3980
chr169001664990016713E06929889
chr168998376089983914E070-2846
chr168998597089986348E070-412
chr168998642089986628E070-132
chr168999449389994543E0707733
chr168999920889999280E07012448
chr169000188390001943E07015123
chr169000252090002743E07015760
chr169000279090002838E07016030
chr169000293390003151E07016173
chr169000315690003209E07016396
chr169001664990016713E07029889
chr168994162589941912E071-44848
chr168997533789975538E071-11222
chr168997565489975947E071-10813
chr168997611689977523E071-9237
chr168997765189977724E071-9036
chr168997776389977841E071-8919
chr168998215589982780E071-3980
chr168998597089986348E071-412
chr169001664990016713E07129889
chr168994162589941912E072-44848
chr168995028189950366E072-36394
chr168995042389950475E072-36285
chr168995063789950692E072-36068
chr168995667789957098E072-29662
chr168995734089957609E072-29151
chr168995777989957858E072-28902
chr168997533789975538E072-11222
chr168997565489975947E072-10813
chr168997611689977523E072-9237
chr168998012389980241E072-6519
chr168998026989980533E072-6227
chr168998178289982057E072-4703
chr168998215589982780E072-3980
chr169001664990016713E07229889
chr168997533789975538E073-11222
chr168997565489975947E073-10813
chr168997611689977523E073-9237
chr168998215589982780E073-3980
chr168998597089986348E073-412
chr169001646590016526E07329705
chr169001664990016713E07329889
chr168997611689977523E074-9237
chr168998215589982780E074-3980
chr169001646590016526E07429705
chr169001664990016713E07429889
chr168998642089986628E081-132
chr168999393789993977E0817177
chr168999398389994086E0817223
chr168999410789994215E0817347
chr168999423289994475E0817472
chr168999449389994543E0817733
chr168999597489996063E0819214
chr168999836589998419E08111605
chr169000102090001217E08114260
chr169001646590016526E08129705
chr168999393789993977E0827177
chr168999398389994086E0827223
chr168999410789994215E0827347
chr168999423289994475E0827472
chr168999449389994543E0827733
chr168999764289997811E08210882
chr168999807289998182E08211312










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr168993925889941554E067-45206
chr168998666489991691E0670
chr168999183389993157E0675073
chr169001490590015256E06728145
chr169001553890015626E06728778
chr169001573590015822E06728975
chr168993925889941554E068-45206
chr168998666489991691E0680
chr168999183389993157E0685073
chr169001490590015256E06828145
chr169001553890015626E06828778
chr169001573590015822E06828975
chr168993925889941554E069-45206
chr168999183389993157E0695073
chr169001490590015256E06928145
chr169001553890015626E06928778
chr169001573590015822E06928975
chr168993925889941554E070-45206
chr168998666489991691E0700
chr168999183389993157E0705073
chr169001490590015256E07028145
chr169001553890015626E07028778
chr169001573590015822E07028975
chr168993925889941554E071-45206
chr168999183389993157E0715073
chr169001490590015256E07128145
chr169001553890015626E07128778
chr169001573590015822E07128975
chr168993925889941554E072-45206
chr168998666489991691E0720
chr168999183389993157E0725073
chr169001490590015256E07228145
chr169001553890015626E07228778
chr169001573590015822E07228975
chr168993925889941554E073-45206
chr168998666489991691E0730
chr168999183389993157E0735073
chr169001490590015256E07328145
chr169001553890015626E07328778
chr169001573590015822E07328975
chr168993925889941554E074-45206
chr168999183389993157E0745073
chr169001490590015256E07428145
chr169001553890015626E07428778
chr169001573590015822E07428975
chr168998666489991691E0810
chr168993925889941554E082-45206
chr168998666489991691E0820
chr168999183389993157E0825073
chr169001490590015256E08228145
chr169001553890015626E08228778
chr169001573590015822E08228975