rs9554711

Homo sapiens
A>G
TMTC4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0352 (10563/29928,GnomAD)
G=0313 (9130/29118,TOPMED)
G=0389 (1946/5008,1000G)
G=0304 (1171/3854,ALSPAC)
G=0300 (1111/3708,TWINSUK)
chr13:100624630 (GRCh38.p7) (13q32.3)
ND
GWASdb2
1   publication(s)
See rs on genome
443 Enhancers around
41 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.100624630A>G
GRCh37.p13 chr 13NC_000013.10:g.101276884A>G

Gene: TMTC4, transmembrane and tetratricopeptide repeat containing 4(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TMTC4 transcript variant 2NM_001079669.2:c.N/AIntron Variant
TMTC4 transcript variant 3NM_001286453.1:c.N/AIntron Variant
TMTC4 transcript variant 1NM_032813.3:c.N/AIntron Variant
TMTC4 transcript variant X3XM_011521121.2:c.N/AIntron Variant
TMTC4 transcript variant X1XM_011521122.2:c.N/AIntron Variant
TMTC4 transcript variant X2XM_011521123.2:c.N/AIntron Variant
TMTC4 transcript variant X4XM_011521124.2:c.N/AIntron Variant
TMTC4 transcript variant X3XM_011521125.1:c.N/AIntron Variant
TMTC4 transcript variant X5XM_017020796.1:c.N/AIntron Variant
TMTC4 transcript variant X7XM_017020797.1:c.N/AIntron Variant
TMTC4 transcript variant X5XM_017020798.1:c.N/AIntron Variant
TMTC4 transcript variant X9XM_017020799.1:c.N/AIntron Variant
TMTC4 transcript variant X7XM_017020800.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.625G=0.375
1000GenomesAmericanSub694A=0.750G=0.250
1000GenomesEast AsianSub1008A=0.395G=0.605
1000GenomesEuropeSub1006A=0.696G=0.304
1000GenomesGlobalStudy-wide5008A=0.611G=0.389
1000GenomesSouth AsianSub978A=0.630G=0.370
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.696G=0.304
The Genome Aggregation DatabaseAfricanSub8720A=0.651G=0.349
The Genome Aggregation DatabaseAmericanSub836A=0.720G=0.280
The Genome Aggregation DatabaseEast AsianSub1614A=0.411G=0.589
The Genome Aggregation DatabaseEuropeSub18456A=0.662G=0.337
The Genome Aggregation DatabaseGlobalStudy-wide29928A=0.647G=0.352
The Genome Aggregation DatabaseOtherSub302A=0.670G=0.330
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.686G=0.313
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.700G=0.300
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
rs95547115.65E-05nicotine smoking19268276

eQTL of rs9554711 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 rs9554711 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 )
chr13101265417101265585E067-11299
chr13101282085101282174E0675201
chr13101282431101282507E0675547
chr13101282608101282683E0675724
chr13101282778101283180E0675894
chr13101283394101283463E0676510
chr13101283747101283803E0676863
chr13101296705101296913E06719821
chr13101296914101297012E06720030
chr13101297929101298001E06721045
chr13101298121101298190E06721237
chr13101298510101298601E06721626
chr13101298630101298822E06721746
chr13101298850101298940E06721966
chr13101299119101299159E06722235
chr13101299233101299368E06722349
chr13101303454101303571E06726570
chr13101304741101304849E06727857
chr13101304889101304991E06728005
chr13101305263101305317E06728379
chr13101305326101305422E06728442
chr13101305551101305818E06728667
chr13101305837101305903E06728953
chr13101308412101308466E06731528
chr13101308498101308548E06731614
chr13101309263101309320E06732379
chr13101309664101309714E06732780
chr13101309838101309888E06732954
chr13101310113101310440E06733229
chr13101310521101310924E06733637
chr13101311518101311609E06734634
chr13101311936101312136E06735052
chr13101313155101313613E06736271
chr13101313689101313745E06736805
chr13101313756101313806E06736872
chr13101314028101314078E06737144
chr13101314099101314370E06737215
chr13101314526101314576E06737642
chr13101314747101315104E06737863
chr13101315166101315357E06738282
chr13101315417101315484E06738533
chr13101318445101318808E06741561
chr13101320237101320391E06743353
chr13101320668101320916E06743784
chr13101320934101321034E06744050
chr13101321063101321138E06744179
chr13101323741101323793E06746857
chr13101323923101323963E06747039
chr13101323987101324119E06747103
chr13101324210101324321E06747326
chr13101324342101324393E06747458
chr13101324553101324723E06747669
chr13101324762101324822E06747878
chr13101325008101325049E06748124
chr13101325107101325186E06748223
chr13101258027101258108E068-18776
chr13101258317101258416E068-18468
chr13101260965101261112E068-15772
chr13101282431101282507E0685547
chr13101282608101282683E0685724
chr13101282778101283180E0685894
chr13101283394101283463E0686510
chr13101298510101298601E06821626
chr13101298630101298822E06821746
chr13101298850101298940E06821966
chr13101299119101299159E06822235
chr13101302157101302201E06825273
chr13101305326101305422E06828442
chr13101305551101305818E06828667
chr13101305837101305903E06828953
chr13101309263101309320E06832379
chr13101309664101309714E06832780
chr13101309838101309888E06832954
chr13101310113101310440E06833229
chr13101310521101310924E06833637
chr13101311518101311609E06834634
chr13101311936101312136E06835052
chr13101312711101312821E06835827
chr13101314099101314370E06837215
chr13101314526101314576E06837642
chr13101314747101315104E06837863
chr13101315166101315357E06838282
chr13101318021101318065E06841137
chr13101318130101318190E06841246
chr13101318445101318808E06841561
chr13101320237101320391E06843353
chr13101320668101320916E06843784
chr13101320934101321034E06844050
chr13101321063101321138E06844179
chr13101321617101321677E06844733
chr13101321901101321955E06845017
chr13101322094101322162E06845210
chr13101322548101322598E06845664
chr13101322699101322796E06845815
chr13101324553101324723E06847669
chr13101324762101324822E06847878
chr13101325008101325049E06848124
chr13101325107101325186E06848223
chr13101325216101325459E06848332
chr13101325478101325528E06848594
chr13101254670101255475E069-21409
chr13101257279101257401E069-19483
chr13101257687101257776E069-19108
chr13101258027101258108E069-18776
chr13101258317101258416E069-18468
chr13101258538101258791E069-18093
chr13101259385101259479E069-17405
chr13101282085101282174E0695201
chr13101282431101282507E0695547
chr13101290026101290100E06913142
chr13101290151101290328E06913267
chr13101290688101290754E06913804
chr13101290901101290941E06914017
chr13101296914101297012E06920030
chr13101297428101297478E06920544
chr13101297617101297896E06920733
chr13101297929101298001E06921045
chr13101298121101298190E06921237
chr13101298510101298601E06921626
chr13101298630101298822E06921746
chr13101298850101298940E06921966
chr13101299119101299159E06922235
chr13101299233101299368E06922349
chr13101302157101302201E06925273
chr13101303454101303571E06926570
chr13101304741101304849E06927857
chr13101304889101304991E06928005
chr13101305263101305317E06928379
chr13101305326101305422E06928442
chr13101305551101305818E06928667
chr13101305837101305903E06928953
chr13101308412101308466E06931528
chr13101308498101308548E06931614
chr13101309263101309320E06932379
chr13101309664101309714E06932780
chr13101309838101309888E06932954
chr13101310113101310440E06933229
chr13101311518101311609E06934634
chr13101311936101312136E06935052
chr13101313756101313806E06936872
chr13101314028101314078E06937144
chr13101314099101314370E06937215
chr13101314526101314576E06937642
chr13101314747101315104E06937863
chr13101315166101315357E06938282
chr13101315417101315484E06938533
chr13101317774101317824E06940890
chr13101318021101318065E06941137
chr13101318130101318190E06941246
chr13101318445101318808E06941561
chr13101320237101320391E06943353
chr13101320668101320916E06943784
chr13101320934101321034E06944050
chr13101321063101321138E06944179
chr13101321617101321677E06944733
chr13101321901101321955E06945017
chr13101322094101322162E06945210
chr13101322548101322598E06945664
chr13101322699101322796E06945815
chr13101323741101323793E06946857
chr13101323923101323963E06947039
chr13101323987101324119E06947103
chr13101324210101324321E06947326
chr13101324342101324393E06947458
chr13101324553101324723E06947669
chr13101324762101324822E06947878
chr13101325008101325049E06948124
chr13101325107101325186E06948223
chr13101254670101255475E070-21409
chr13101260666101260734E070-16150
chr13101260965101261112E070-15772
chr13101282085101282174E0705201
chr13101290026101290100E07013142
chr13101290151101290328E07013267
chr13101290688101290754E07013804
chr13101290901101290941E07014017
chr13101291308101291368E07014424
chr13101291716101291800E07014832
chr13101298510101298601E07021626
chr13101298630101298822E07021746
chr13101298850101298940E07021966
chr13101299119101299159E07022235
chr13101299233101299368E07022349
chr13101302157101302201E07025273
chr13101302362101303058E07025478
chr13101310113101310440E07033229
chr13101310521101310924E07033637
chr13101317774101317824E07040890
chr13101318021101318065E07041137
chr13101318130101318190E07041246
chr13101318445101318808E07041561
chr13101323923101323963E07047039
chr13101323987101324119E07047103
chr13101324210101324321E07047326
chr13101324342101324393E07047458
chr13101324553101324723E07047669
chr13101324762101324822E07047878
chr13101254670101255475E071-21409
chr13101256403101256482E071-20402
chr13101257279101257401E071-19483
chr13101257687101257776E071-19108
chr13101260666101260734E071-16150
chr13101260965101261112E071-15772
chr13101281366101281416E0714482
chr13101281462101281523E0714578
chr13101282085101282174E0715201
chr13101283394101283463E0716510
chr13101283747101283803E0716863
chr13101284351101284526E0717467
chr13101284630101284685E0717746
chr13101296705101296913E07119821
chr13101296914101297012E07120030
chr13101297428101297478E07120544
chr13101297617101297896E07120733
chr13101297929101298001E07121045
chr13101298121101298190E07121237
chr13101298510101298601E07121626
chr13101298630101298822E07121746
chr13101298850101298940E07121966
chr13101299119101299159E07122235
chr13101299233101299368E07122349
chr13101299969101300088E07123085
chr13101300714101300991E07123830
chr13101301932101301997E07125048
chr13101302157101302201E07125273
chr13101303454101303571E07126570
chr13101304741101304849E07127857
chr13101304889101304991E07128005
chr13101305263101305317E07128379
chr13101305326101305422E07128442
chr13101305551101305818E07128667
chr13101308412101308466E07131528
chr13101308498101308548E07131614
chr13101309664101309714E07132780
chr13101309838101309888E07132954
chr13101310113101310440E07133229
chr13101310521101310924E07133637
chr13101311518101311609E07134634
chr13101311936101312136E07135052
chr13101312711101312821E07135827
chr13101313155101313613E07136271
chr13101313689101313745E07136805
chr13101313756101313806E07136872
chr13101314028101314078E07137144
chr13101314099101314370E07137215
chr13101314526101314576E07137642
chr13101314747101315104E07137863
chr13101315166101315357E07138282
chr13101316992101317112E07140108
chr13101317774101317824E07140890
chr13101318021101318065E07141137
chr13101318130101318190E07141246
chr13101318445101318808E07141561
chr13101320237101320391E07143353
chr13101320668101320916E07143784
chr13101320934101321034E07144050
chr13101321063101321138E07144179
chr13101321617101321677E07144733
chr13101321901101321955E07145017
chr13101322699101322796E07145815
chr13101323741101323793E07146857
chr13101323923101323963E07147039
chr13101323987101324119E07147103
chr13101324210101324321E07147326
chr13101324342101324393E07147458
chr13101324553101324723E07147669
chr13101324762101324822E07147878
chr13101325008101325049E07148124
chr13101325107101325186E07148223
chr13101257279101257401E072-19483
chr13101257687101257776E072-19108
chr13101281366101281416E0724482
chr13101281462101281523E0724578
chr13101282085101282174E0725201
chr13101282431101282507E0725547
chr13101282608101282683E0725724
chr13101282778101283180E0725894
chr13101283394101283463E0726510
chr13101283747101283803E0726863
chr13101296705101296913E07219821
chr13101296914101297012E07220030
chr13101297428101297478E07220544
chr13101297617101297896E07220733
chr13101297929101298001E07221045
chr13101298121101298190E07221237
chr13101298510101298601E07221626
chr13101298630101298822E07221746
chr13101298850101298940E07221966
chr13101299119101299159E07222235
chr13101299233101299368E07222349
chr13101302157101302201E07225273
chr13101303454101303571E07226570
chr13101305551101305818E07228667
chr13101305837101305903E07228953
chr13101309263101309320E07232379
chr13101309664101309714E07232780
chr13101309838101309888E07232954
chr13101310113101310440E07233229
chr13101310521101310924E07233637
chr13101311518101311609E07234634
chr13101311936101312136E07235052
chr13101314028101314078E07237144
chr13101314099101314370E07237215
chr13101314526101314576E07237642
chr13101314747101315104E07237863
chr13101315166101315357E07238282
chr13101315417101315484E07238533
chr13101318021101318065E07241137
chr13101318130101318190E07241246
chr13101318445101318808E07241561
chr13101320237101320391E07243353
chr13101320668101320916E07243784
chr13101320934101321034E07244050
chr13101321063101321138E07244179
chr13101321617101321677E07244733
chr13101321901101321955E07245017
chr13101322094101322162E07245210
chr13101322548101322598E07245664
chr13101322699101322796E07245815
chr13101323741101323793E07246857
chr13101323923101323963E07247039
chr13101323987101324119E07247103
chr13101324210101324321E07247326
chr13101324342101324393E07247458
chr13101324553101324723E07247669
chr13101324762101324822E07247878
chr13101325008101325049E07248124
chr13101325107101325186E07248223
chr13101325216101325459E07248332
chr13101325478101325528E07248594
chr13101263256101263306E073-13578
chr13101263376101263482E073-13402
chr13101282431101282507E0735547
chr13101282608101282683E0735724
chr13101282778101283180E0735894
chr13101283394101283463E0736510
chr13101283747101283803E0736863
chr13101298510101298601E07321626
chr13101298630101298822E07321746
chr13101298850101298940E07321966
chr13101309664101309714E07332780
chr13101309838101309888E07332954
chr13101311936101312136E07335052
chr13101314747101315104E07337863
chr13101315166101315357E07338282
chr13101320237101320391E07343353
chr13101320668101320916E07343784
chr13101322094101322162E07345210
chr13101322548101322598E07345664
chr13101322699101322796E07345815
chr13101324553101324723E07347669
chr13101324762101324822E07347878
chr13101325216101325459E07348332
chr13101325478101325528E07348594
chr13101257279101257401E074-19483
chr13101257687101257776E074-19108
chr13101260965101261112E074-15772
chr13101282085101282174E0745201
chr13101282431101282507E0745547
chr13101282608101282683E0745724
chr13101282778101283180E0745894
chr13101283394101283463E0746510
chr13101283747101283803E0746863
chr13101284351101284526E0747467
chr13101285700101286277E0748816
chr13101296705101296913E07419821
chr13101296914101297012E07420030
chr13101297428101297478E07420544
chr13101297617101297896E07420733
chr13101297929101298001E07421045
chr13101298121101298190E07421237
chr13101298510101298601E07421626
chr13101298630101298822E07421746
chr13101298850101298940E07421966
chr13101299119101299159E07422235
chr13101299233101299368E07422349
chr13101302157101302201E07425273
chr13101302362101303058E07425478
chr13101303454101303571E07426570
chr13101304741101304849E07427857
chr13101304889101304991E07428005
chr13101305263101305317E07428379
chr13101305326101305422E07428442
chr13101305551101305818E07428667
chr13101308412101308466E07431528
chr13101308498101308548E07431614
chr13101309263101309320E07432379
chr13101309664101309714E07432780
chr13101309838101309888E07432954
chr13101310113101310440E07433229
chr13101310521101310924E07433637
chr13101311518101311609E07434634
chr13101311936101312136E07435052
chr13101313756101313806E07436872
chr13101314028101314078E07437144
chr13101314099101314370E07437215
chr13101314526101314576E07437642
chr13101314747101315104E07437863
chr13101315166101315357E07438282
chr13101315417101315484E07438533
chr13101318021101318065E07441137
chr13101318130101318190E07441246
chr13101318445101318808E07441561
chr13101320237101320391E07443353
chr13101320668101320916E07443784
chr13101320934101321034E07444050
chr13101321063101321138E07444179
chr13101322699101322796E07445815
chr13101323741101323793E07446857
chr13101323923101323963E07447039
chr13101323987101324119E07447103
chr13101324210101324321E07447326
chr13101324342101324393E07447458
chr13101324553101324723E07447669
chr13101324762101324822E07447878
chr13101325008101325049E07448124
chr13101325107101325186E07448223
chr13101254227101254319E081-22565
chr13101254670101255475E081-21409
chr13101258317101258416E081-18468
chr13101258538101258791E081-18093
chr13101260666101260734E081-16150
chr13101282085101282174E0815201
chr13101282431101282507E0815547
chr13101282608101282683E0815724
chr13101282778101283180E0815894
chr13101285700101286277E0818816
chr13101302157101302201E08125273
chr13101303454101303571E08126570
chr13101309838101309888E08132954
chr13101310113101310440E08133229
chr13101310521101310924E08133637
chr13101325216101325459E08148332
chr13101325478101325528E08148594
chr13101254227101254319E082-22565
chr13101298510101298601E08221626
chr13101302362101303058E08225478
chr13101310113101310440E08233229
chr13101323923101323963E08247039
chr13101324553101324723E08247669
chr13101324762101324822E08247878
chr13101325008101325049E08248124
chr13101325107101325186E08248223










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr13101240351101240441E067-36443
chr13101240457101241905E067-34979
chr13101284175101284229E0677291
chr13101286495101286535E0679611
chr13101286952101287002E06710068
chr13101287059101287198E06710175
chr13101288027101288081E06711143
chr13101240351101240441E068-36443
chr13101240457101241905E068-34979
chr13101288027101288081E06811143
chr13101288793101289030E06811909
chr13101240351101240441E069-36443
chr13101240457101241905E069-34979
chr13101284175101284229E0697291
chr13101286495101286535E0699611
chr13101288027101288081E06911143
chr13101288793101289030E06911909
chr13101240351101240441E070-36443
chr13101240457101241905E070-34979
chr13101284175101284229E0707291
chr13101286495101286535E0709611
chr13101288027101288081E07011143
chr13101288793101289030E07011909
chr13101240351101240441E071-36443
chr13101240457101241905E071-34979
chr13101288027101288081E07111143
chr13101288793101289030E07111909
chr13101240457101241905E072-34979
chr13101288027101288081E07211143
chr13101288793101289030E07211909
chr13101240351101240441E073-36443
chr13101240457101241905E073-34979
chr13101286952101287002E07310068
chr13101287059101287198E07310175
chr13101288027101288081E07311143
chr13101240351101240441E074-36443
chr13101240457101241905E074-34979
chr13101288027101288081E07411143
chr13101288793101289030E07411909
chr13101240351101240441E082-36443
chr13101240457101241905E082-34979