rs2302673

Homo sapiens
T>C
FTO : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0207 (6200/29950,GnomAD)
C=0278 (1393/5008,1000G)
C=0139 (537/3854,ALSPAC)
C=0140 (519/3708,TWINSUK)
chr16:54034209 (GRCh38.p7) (16q12.2)
ND
GWASdb2
3   publication(s)
See rs on genome
100 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.54034209T>C
GRCh37.p13 chr 16NC_000016.9:g.54068121T>C
FTO RefSeqGeneNG_012969.1:g.335247T>C

Gene: FTO, fat mass and obesity associated(plus strand)

Molecule type Change Amino acid[Codon] SO Term
FTO transcriptNM_001080432.2:c.N/AIntron Variant
FTO transcript variant X1XM_011523313.2:c.N/AIntron Variant
FTO transcript variant X4XM_011523314.2:c.N/AGenic Downstream Transcript Variant
FTO transcript variant X5XM_011523315.2:c.N/AGenic Downstream Transcript Variant
FTO transcript variant X6XM_011523316.2:c.N/AGenic Downstream Transcript Variant
FTO transcript variant X2XM_017023654.1:c.N/AGenic Downstream Transcript Variant
FTO transcript variant X3XM_017023655.1:c.N/AGenic Downstream Transcript Variant
FTO transcript variant X7XM_017023656.1:c.N/AGenic Downstream Transcript Variant
FTO transcript variant X8XM_017023657.1:c.N/AGenic Downstream Transcript Variant
FTO transcript variant X9XM_017023658.1:c.N/AGenic Downstream Transcript Variant
FTO transcript variant X10XR_001751980.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.536C=0.464
1000GenomesAmericanSub694T=0.840C=0.160
1000GenomesEast AsianSub1008T=0.842C=0.158
1000GenomesEuropeSub1006T=0.851C=0.149
1000GenomesGlobalStudy-wide5008T=0.722C=0.278
1000GenomesSouth AsianSub978T=0.630C=0.370
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.861C=0.139
The Genome Aggregation DatabaseAfricanSub8712T=0.596C=0.404
The Genome Aggregation DatabaseAmericanSub838T=0.880C=0.120
The Genome Aggregation DatabaseEast AsianSub1616T=0.832C=0.168
The Genome Aggregation DatabaseEuropeSub18482T=0.877C=0.122
The Genome Aggregation DatabaseGlobalStudy-wide29950T=0.793C=0.207
The Genome Aggregation DatabaseOtherSub302T=0.830C=0.170
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.860C=0.140
PMID Title Author Journal
22157232Lack of an association between three tagging SNPs within the FTO gene and smoking behavior.Hubacek JANicotine Tob Res
17158188Novel genes identified in a high-density genome wide association study for nicotine dependence.Bierut LJHum Mol Genet
18783506Association of a single nucleotide polymorphism in neuronal acetylcholine receptor subunit alpha 5 (CHRNA5) with smoking status and with 'pleasurable buzz' during early experimentation with smoking.Sherva RAddiction

P-Value

SNP ID p-value Traits Study
rs23026738.85E-05nicotine dependence17158188

eQTL of rs2302673 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 rs2302673 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 )
chr165402504054026305E067-41816
chr165404155654041632E067-26489
chr165404167854041732E067-26389
chr165404175054041902E067-26219
chr165408800954088210E06719888
chr165408825254088668E06720131
chr165408879854088960E06720677
chr165409629254096695E06728171
chr165402019654020382E068-47739
chr165402504054026305E068-41816
chr165406015454060211E068-7910
chr165406050754060605E068-7516
chr165406093754060991E068-7130
chr165406112854061333E068-6788
chr165407229354072376E0684172
chr165407238154072473E0684260
chr165408781454087913E06819693
chr165408800954088210E06819888
chr165408825254088668E06820131
chr165408879854088960E06820677
chr165409671854097712E06828597
chr165402504054026305E069-41816
chr165402640954026510E069-41611
chr165406050754060605E069-7516
chr165406093754060991E069-7130
chr165408800954088210E06919888
chr165408825254088668E06920131
chr165401959054019640E070-48481
chr165401969554019795E070-48326
chr165401991154020075E070-48046
chr165402019654020382E070-47739
chr165402061954020775E070-47346
chr165402088554021051E070-47070
chr165408305954084087E07014938
chr165408716254087257E07019041
chr165408736654087765E07019245
chr165408781454087913E07019693
chr165408800954088210E07019888
chr165408825254088668E07020131
chr165408879854088960E07020677
chr165402019654020382E071-47739
chr165402478654024970E071-43151
chr165402504054026305E071-41816
chr165402640954026510E071-41611
chr165404155654041632E071-26489
chr165404167854041732E071-26389
chr165404175054041902E071-26219
chr165406050754060605E071-7516
chr165406093754060991E071-7130
chr165406112854061333E071-6788
chr165406136054061470E071-6651
chr165406149154061678E071-6443
chr165408305954084087E07114938
chr165408825254088668E07120131
chr165408879854088960E07120677
chr165408904254089406E07120921
chr165408985354090053E07121732
chr165409019954090243E07122078
chr165409024454090324E07122123
chr165409318854093553E07125067
chr165409671854097712E07128597
chr165409775554097830E07129634
chr165402478654024970E072-43151
chr165402504054026305E072-41816
chr165402640954026510E072-41611
chr165408825254088668E07220131
chr165408879854088960E07220677
chr165409671854097712E07228597
chr165402504054026305E073-41816
chr165402504054026305E074-41816
chr165402640954026510E074-41611
chr165402671154026766E074-41355
chr165403363254033714E074-34407
chr165404155654041632E074-26489
chr165404167854041732E074-26389
chr165404175054041902E074-26219
chr165406136054061470E074-6651
chr165406149154061678E074-6443
chr165408305954084087E07414938
chr165408800954088210E07419888
chr165408825254088668E07420131
chr165408879854088960E07420677
chr165408904254089406E07420921
chr165409671854097712E07428597
chr165409775554097830E07429634
chr165410456354104994E07436442
chr165402019654020382E081-47739
chr165402061954020775E081-47346
chr165402088554021051E081-47070
chr165402504054026305E081-41816
chr165408800954088210E08119888
chr165401991154020075E082-48046
chr165402019654020382E082-47739
chr165402061954020775E082-47346
chr165406050754060605E082-7516
chr165406379454063844E082-4277
chr165408781454087913E08219693
chr165408879854088960E08220677
chr165410622254106519E08238101
chr165410656754106687E08238446