rs16953047

Homo sapiens
G>T
FTO : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0146 (4396/29974,GnomAD)
T=0126 (633/5008,1000G)
T=0151 (583/3854,ALSPAC)
T=0147 (544/3708,TWINSUK)
chr16:54096258 (GRCh38.p7) (16q12.2)
AD
GWASdb2
1   publication(s)
See rs on genome
70 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.54096258G>T
GRCh37.p13 chr 16NC_000016.9:g.54130170G>T
FTO RefSeqGeneNG_012969.1:g.397296G>T

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
1000GenomesAfricanSub1322G=0.918T=0.082
1000GenomesAmericanSub694G=0.810T=0.190
1000GenomesEast AsianSub1008G=0.843T=0.157
1000GenomesEuropeSub1006G=0.847T=0.153
1000GenomesGlobalStudy-wide5008G=0.874T=0.126
1000GenomesSouth AsianSub978G=0.920T=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.849T=0.151
The Genome Aggregation DatabaseAfricanSub8720G=0.918T=0.082
The Genome Aggregation DatabaseAmericanSub838G=0.810T=0.190
The Genome Aggregation DatabaseEast AsianSub1614G=0.844T=0.156
The Genome Aggregation DatabaseEuropeSub18500G=0.825T=0.174
The Genome Aggregation DatabaseGlobalStudy-wide29974G=0.853T=0.146
The Genome Aggregation DatabaseOtherSub302G=0.830T=0.170
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.853T=0.147
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs169530470.0004alcohol dependence21314694

eQTL of rs16953047 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 rs16953047 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 )
chr165408800954088210E067-41960
chr165408825254088668E067-41502
chr165408879854088960E067-41210
chr165409629254096695E067-33475
chr165408781454087913E068-42257
chr165408800954088210E068-41960
chr165408825254088668E068-41502
chr165408879854088960E068-41210
chr165409671854097712E068-32458
chr165412733854127921E068-2249
chr165415354554153585E06823375
chr165416297854163083E06832808
chr165416350554163559E06833335
chr165408800954088210E069-41960
chr165408825254088668E069-41502
chr165412718254127281E069-2889
chr165408305954084087E070-46083
chr165408716254087257E070-42913
chr165408736654087765E070-42405
chr165408781454087913E070-42257
chr165408800954088210E070-41960
chr165408825254088668E070-41502
chr165408879854088960E070-41210
chr165414906654149184E07018896
chr165414921554149265E07019045
chr165414927754149335E07019107
chr165414937354149460E07019203
chr165415125154151309E07021081
chr165408305954084087E071-46083
chr165408825254088668E071-41502
chr165408879854088960E071-41210
chr165408904254089406E071-40764
chr165408985354090053E071-40117
chr165409019954090243E071-39927
chr165409024454090324E071-39846
chr165409318854093553E071-36617
chr165409671854097712E071-32458
chr165409775554097830E071-32340
chr165416297854163083E07132808
chr165416350554163559E07133335
chr165408825254088668E072-41502
chr165408879854088960E072-41210
chr165409671854097712E072-32458
chr165412681354126853E072-3317
chr165412718254127281E072-2889
chr165412733854127921E072-2249
chr165412799454128056E072-2114
chr165416350554163559E07233335
chr165408305954084087E074-46083
chr165408800954088210E074-41960
chr165408825254088668E074-41502
chr165408879854088960E074-41210
chr165408904254089406E074-40764
chr165409671854097712E074-32458
chr165409775554097830E074-32340
chr165410456354104994E074-25176
chr165412681354126853E074-3317
chr165412718254127281E074-2889
chr165412733854127921E074-2249
chr165412799454128056E074-2114
chr165416297854163083E07432808
chr165408800954088210E081-41960
chr165414921554149265E08119045
chr165414927754149335E08119107
chr165414937354149460E08119203
chr165408781454087913E082-42257
chr165408879854088960E082-41210
chr165410622254106519E082-23651
chr165410656754106687E082-23483
chr165414906654149184E08218896