rs10521308

Homo sapiens
G>A
FTO : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0071 (2154/29970,GnomAD)
A=0082 (2415/29118,TOPMED)
A=0115 (576/5008,1000G)
A=0040 (153/3854,ALSPAC)
A=0039 (143/3708,TWINSUK)
chr16:53831214 (GRCh38.p7) (16q12.2)
ND
GWASdb2
2   publication(s)
See rs on genome
275 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.53831214G>A
GRCh37.p13 chr 16NC_000016.9:g.53865126G>A
FTO RefSeqGeneNG_012969.1:g.132252G>A

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/AIntron Variant
FTO transcript variant X5XM_011523315.2:c.N/AIntron Variant
FTO transcript variant X6XM_011523316.2:c.N/AIntron Variant
FTO transcript variant X2XM_017023654.1:c.N/AIntron Variant
FTO transcript variant X3XM_017023655.1:c.N/AIntron Variant
FTO transcript variant X7XM_017023656.1:c.N/AIntron Variant
FTO transcript variant X8XM_017023657.1:c.N/AIntron Variant
FTO transcript variant X9XM_017023658.1:c.N/AIntron Variant
FTO transcript variant X10XR_001751980.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.903A=0.097
1000GenomesAmericanSub694G=0.960A=0.040
1000GenomesEast AsianSub1008G=0.760A=0.240
1000GenomesEuropeSub1006G=0.953A=0.047
1000GenomesGlobalStudy-wide5008G=0.885A=0.115
1000GenomesSouth AsianSub978G=0.860A=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.960A=0.040
The Genome Aggregation DatabaseAfricanSub8724G=0.893A=0.107
The Genome Aggregation DatabaseAmericanSub838G=0.970A=0.030
The Genome Aggregation DatabaseEast AsianSub1610G=0.720A=0.280
The Genome Aggregation DatabaseEuropeSub18496G=0.960A=0.039
The Genome Aggregation DatabaseGlobalStudy-wide29970G=0.928A=0.071
The Genome Aggregation DatabaseOtherSub302G=0.960A=0.040
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.917A=0.082
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.961A=0.039
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet
19584900Association of FTO variants with BMI and fat mass in the self-contained population of Sorbs in Germany.Tonjes AEur J Hum Genet

P-Value

SNP ID p-value Traits Study
rs105213080.000382nicotine smoking19268276

eQTL of rs10521308 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 rs10521308 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 )
chr165381519153815421E067-49705
chr165381544153815624E067-49502
chr165383944053840152E067-24974
chr165384017453840234E067-24892
chr165384047853840560E067-24566
chr165384137853841456E067-23670
chr165384257153842652E067-22474
chr165384274153842872E067-22254
chr165384293753843007E067-22119
chr165384303953843628E067-21498
chr165385688553856996E067-8130
chr165385710953857399E067-7727
chr165385829353858343E067-6783
chr165385843653858500E067-6626
chr165385870353858757E067-6369
chr165385980053859850E067-5276
chr165386157653862145E067-2981
chr165387148653871663E0676360
chr165387180153871851E0676675
chr165387449153874664E0679365
chr165387477853874828E0679652
chr165387499153875041E0679865
chr165387537853875508E06710252
chr165387554853875618E06710422
chr165387569253876144E06710566
chr165387886653879079E06713740
chr165387981853880001E06714692
chr165388304453883084E06717918
chr165388327453883350E06718148
chr165388340553883455E06718279
chr165388346453883592E06718338
chr165388359653883757E06718470
chr165388382753883944E06718701
chr165389794453897994E06732818
chr165389819953898272E06733073
chr165389853153898596E06733405
chr165389878053899846E06733654
chr165389990253899961E06734776
chr165390624253906341E06741116
chr165381825453818495E068-46631
chr165382311653823379E068-41747
chr165382494653825015E068-40111
chr165382518153825231E068-39895
chr165382524553825329E068-39797
chr165383944053840152E068-24974
chr165384017453840234E068-24892
chr165384047853840560E068-24566
chr165384137853841456E068-23670
chr165384211553842199E068-22927
chr165384303953843628E068-21498
chr165384405153844110E068-21016
chr165384435453844425E068-20701
chr165385688553856996E068-8130
chr165385710953857399E068-7727
chr165385829353858343E068-6783
chr165385843653858500E068-6626
chr165385870353858757E068-6369
chr165386047353861093E068-4033
chr165386114953861279E068-3847
chr165386157653862145E068-2981
chr165386313253863515E068-1611
chr165386353653863603E068-1523
chr165387097053871020E0685844
chr165387148653871663E0686360
chr165387180153871851E0686675
chr165387213053872209E0687004
chr165387347053873620E0688344
chr165387449153874664E0689365
chr165387477853874828E0689652
chr165387499153875041E0689865
chr165387537853875508E06810252
chr165387554853875618E06810422
chr165387569253876144E06810566
chr165387886653879079E06813740
chr165387981853880001E06814692
chr165389741353897503E06832287
chr165389819953898272E06833073
chr165389853153898596E06833405
chr165389878053899846E06833654
chr165390602753906131E06840901
chr165390624253906341E06841116
chr165390635853906418E06841232
chr165390644553906522E06841319
chr165390668653907053E06841560
chr165381519153815421E069-49705
chr165382311653823379E069-41747
chr165383944053840152E069-24974
chr165384017453840234E069-24892
chr165384047853840560E069-24566
chr165384137853841456E069-23670
chr165384257153842652E069-22474
chr165384274153842872E069-22254
chr165384293753843007E069-22119
chr165385710953857399E069-7727
chr165385829353858343E069-6783
chr165385843653858500E069-6626
chr165386114953861279E069-3847
chr165386157653862145E069-2981
chr165387148653871663E0696360
chr165387180153871851E0696675
chr165387449153874664E0699365
chr165387477853874828E0699652
chr165387499153875041E0699865
chr165387537853875508E06910252
chr165387554853875618E06910422
chr165387886653879079E06913740
chr165387981853880001E06914692
chr165389794453897994E06932818
chr165389819953898272E06933073
chr165389853153898596E06933405
chr165389878053899846E06933654
chr165390602753906131E06940901
chr165390624253906341E06941116
chr165390635853906418E06941232
chr165390644553906522E06941319
chr165383944053840152E070-24974
chr165384017453840234E070-24892
chr165384047853840560E070-24566
chr165382311653823379E071-41747
chr165382618053826605E071-38521
chr165382662653826741E071-38385
chr165383805753838139E071-26987
chr165383944053840152E071-24974
chr165384017453840234E071-24892
chr165384047853840560E071-24566
chr165384137853841456E071-23670
chr165384257153842652E071-22474
chr165384274153842872E071-22254
chr165384293753843007E071-22119
chr165384303953843628E071-21498
chr165385688553856996E071-8130
chr165385710953857399E071-7727
chr165385829353858343E071-6783
chr165385843653858500E071-6626
chr165385870353858757E071-6369
chr165386047353861093E071-4033
chr165386114953861279E071-3847
chr165386157653862145E071-2981
chr165387097053871020E0715844
chr165387148653871663E0716360
chr165387180153871851E0716675
chr165387213053872209E0717004
chr165387449153874664E0719365
chr165387477853874828E0719652
chr165387499153875041E0719865
chr165387537853875508E07110252
chr165387554853875618E07110422
chr165387569253876144E07110566
chr165387886653879079E07113740
chr165387981853880001E07114692
chr165388020053880250E07115074
chr165388234653882605E07117220
chr165388275253882929E07117626
chr165389741353897503E07132287
chr165389794453897994E07132818
chr165389819953898272E07133073
chr165389853153898596E07133405
chr165389878053899846E07133654
chr165389990253899961E07134776
chr165390602753906131E07140901
chr165390624253906341E07141116
chr165390635853906418E07141232
chr165390644553906522E07141319
chr165390668653907053E07141560
chr165382853353828621E072-36505
chr165383944053840152E072-24974
chr165384017453840234E072-24892
chr165384047853840560E072-24566
chr165384137853841456E072-23670
chr165384211553842199E072-22927
chr165384257153842652E072-22474
chr165384274153842872E072-22254
chr165384293753843007E072-22119
chr165384303953843628E072-21498
chr165385688553856996E072-8130
chr165385710953857399E072-7727
chr165385829353858343E072-6783
chr165385843653858500E072-6626
chr165385870353858757E072-6369
chr165387180153871851E0726675
chr165387213053872209E0727004
chr165387477853874828E0729652
chr165387537853875508E07210252
chr165387554853875618E07210422
chr165387569253876144E07210566
chr165387886653879079E07213740
chr165387981853880001E07214692
chr165389741353897503E07232287
chr165389794453897994E07232818
chr165389819953898272E07233073
chr165389853153898596E07233405
chr165389878053899846E07233654
chr165383944053840152E073-24974
chr165384017453840234E073-24892
chr165384257153842652E073-22474
chr165384274153842872E073-22254
chr165384293753843007E073-22119
chr165384303953843628E073-21498
chr165387537853875508E07310252
chr165387554853875618E07310422
chr165387569253876144E07310566
chr165387886653879079E07313740
chr165387981853880001E07314692
chr165389853153898596E07333405
chr165389878053899846E07333654
chr165391259153912631E07347465
chr165391269953912783E07347573
chr165382311653823379E074-41747
chr165382494653825015E074-40111
chr165382518153825231E074-39895
chr165382853353828621E074-36505
chr165383805753838139E074-26987
chr165383827053838328E074-26798
chr165383857053838644E074-26482
chr165383883753838887E074-26239
chr165383891553839217E074-25909
chr165383944053840152E074-24974
chr165384017453840234E074-24892
chr165384047853840560E074-24566
chr165384137853841456E074-23670
chr165384257153842652E074-22474
chr165384274153842872E074-22254
chr165384293753843007E074-22119
chr165384303953843628E074-21498
chr165385688553856996E074-8130
chr165385710953857399E074-7727
chr165385829353858343E074-6783
chr165385843653858500E074-6626
chr165385870353858757E074-6369
chr165386047353861093E074-4033
chr165386114953861279E074-3847
chr165386157653862145E074-2981
chr165386313253863515E074-1611
chr165386353653863603E074-1523
chr165386375653863900E074-1226
chr165386395553864043E074-1083
chr165387148653871663E0746360
chr165387180153871851E0746675
chr165387213053872209E0747004
chr165387449153874664E0749365
chr165387477853874828E0749652
chr165387499153875041E0749865
chr165387537853875508E07410252
chr165387554853875618E07410422
chr165387569253876144E07410566
chr165387752853877620E07412402
chr165387886653879079E07413740
chr165387981853880001E07414692
chr165388211253882200E07416986
chr165388221853882334E07417092
chr165388234653882605E07417220
chr165388275253882929E07417626
chr165388304453883084E07417918
chr165388327453883350E07418148
chr165388340553883455E07418279
chr165388346453883592E07418338
chr165388359653883757E07418470
chr165388382753883944E07418701
chr165388399553884212E07418869
chr165389713953897189E07432013
chr165389741353897503E07432287
chr165389794453897994E07432818
chr165389819953898272E07433073
chr165389853153898596E07433405
chr165389878053899846E07433654
chr165389990253899961E07434776
chr165390602753906131E07440901
chr165390624253906341E07441116
chr165390635853906418E07441232
chr165390644553906522E07441319
chr165390668653907053E07441560
chr165391259153912631E07447465
chr165391269953912783E07447573
chr165383944053840152E081-24974
chr165384017453840234E081-24892