rs12380857

Homo sapiens
T>C
MLLT3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0100 (3005/29968,GnomAD)
C=0078 (2295/29118,TOPMED)
C=0096 (479/5008,1000G)
C=0145 (559/3854,ALSPAC)
C=0148 (550/3708,TWINSUK)
chr9:20578042 (GRCh38.p7) (9p21.3)
ND
GWASdb2
1   publication(s)
See rs on genome
373 Enhancers around
12 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.20578042T>C
GRCh37.p13 chr 9NC_000009.11:g.20578041T>C

Gene: MLLT3, myeloid/lymphoid or mixed-lineage leukemia; translocated to, 3(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MLLT3 transcript variant 2NM_001286691.1:c.N/AIntron Variant
MLLT3 transcript variant 1NM_004529.3:c.N/AIntron Variant
MLLT3 transcript variant X1XM_017014726.1:c.N/AIntron Variant
MLLT3 transcript variant X2XM_017014727.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.992C=0.008
1000GenomesAmericanSub694T=0.940C=0.060
1000GenomesEast AsianSub1008T=0.777C=0.223
1000GenomesEuropeSub1006T=0.865C=0.135
1000GenomesGlobalStudy-wide5008T=0.904C=0.096
1000GenomesSouth AsianSub978T=0.930C=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.855C=0.145
The Genome Aggregation DatabaseAfricanSub8726T=0.973C=0.027
The Genome Aggregation DatabaseAmericanSub838T=0.920C=0.080
The Genome Aggregation DatabaseEast AsianSub1614T=0.755C=0.245
The Genome Aggregation DatabaseEuropeSub18488T=0.875C=0.124
The Genome Aggregation DatabaseGlobalStudy-wide29968T=0.899C=0.100
The Genome Aggregation DatabaseOtherSub302T=0.960C=0.040
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.921C=0.078
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.852C=0.148
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
rs123808570.000625nicotine smoking19268276

eQTL of rs12380857 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 rs12380857 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 )
chr92055175420552458E067-25583
chr92055248820552581E067-25460
chr92055259920552691E067-25350
chr92055295320553001E067-25040
chr92055306520553766E067-24275
chr92055802420558189E067-19852
chr92055843520559104E067-18937
chr92056348420563774E067-14267
chr92056386420563914E067-14127
chr92056397820564058E067-13983
chr92056843820568498E067-9543
chr92060191220602044E06723871
chr92060223920602316E06724198
chr92060260320602728E06724562
chr92060284820602955E06724807
chr92060299020603100E06724949
chr92060312820603180E06725087
chr92060323420603385E06725193
chr92060339520603445E06725354
chr92060345720603520E06725416
chr92060352520603788E06725484
chr92060381620603866E06725775
chr92060387420603924E06725833
chr92060395920604110E06725918
chr92060411820604297E06726077
chr92060435920604604E06726318
chr92060693520607043E06728894
chr92060712120607271E06729080
chr92061059320610861E06732552
chr92061678220617147E06738741
chr92061719420617265E06739153
chr92061728820617337E06739247
chr92061830620618807E06740265
chr92061880820619363E06740767
chr92055175420552458E068-25583
chr92055248820552581E068-25460
chr92055259920552691E068-25350
chr92055295320553001E068-25040
chr92055306520553766E068-24275
chr92055566220555745E068-22296
chr92055843520559104E068-18937
chr92055940120559467E068-18574
chr92055956520559987E068-18054
chr92056336220563412E068-14629
chr92056348420563774E068-14267
chr92056386420563914E068-14127
chr92056997220570039E068-8002
chr92059328320593937E06815242
chr92060284820602955E06824807
chr92060299020603100E06824949
chr92060312820603180E06825087
chr92060323420603385E06825193
chr92060339520603445E06825354
chr92060345720603520E06825416
chr92060352520603788E06825484
chr92060381620603866E06825775
chr92060387420603924E06825833
chr92060395920604110E06825918
chr92060411820604297E06826077
chr92060435920604604E06826318
chr92060594720606011E06827906
chr92060618220606912E06828141
chr92060974820609860E06831707
chr92061036620610416E06832325
chr92061047520610569E06832434
chr92061059320610861E06832552
chr92061290220613001E06834861
chr92061304120613091E06835000
chr92061316820613218E06835127
chr92061334120613391E06835300
chr92061341620613466E06835375
chr92061357520613634E06835534
chr92061372420613778E06835683
chr92061719420617265E06839153
chr92061728820617337E06839247
chr92061762620617666E06839585
chr92061773420617788E06839693
chr92061800920618280E06839968
chr92061830620618807E06840265
chr92055175420552458E069-25583
chr92055248820552581E069-25460
chr92055259920552691E069-25350
chr92055295320553001E069-25040
chr92055306520553766E069-24275
chr92055384420553898E069-24143
chr92055406620554155E069-23886
chr92055566220555745E069-22296
chr92055802420558189E069-19852
chr92055843520559104E069-18937
chr92056409620564266E069-13775
chr92059328320593937E06915242
chr92060260320602728E06924562
chr92060618220606912E06928141
chr92060693520607043E06928894
chr92060974820609860E06931707
chr92061036620610416E06932325
chr92061047520610569E06932434
chr92061059320610861E06932552
chr92061316820613218E06935127
chr92061334120613391E06935300
chr92061341620613466E06935375
chr92061357520613634E06935534
chr92061372420613778E06935683
chr92061618120616244E06938140
chr92061636320616403E06938322
chr92061649920616718E06938458
chr92061678220617147E06938741
chr92061719420617265E06939153
chr92061728820617337E06939247
chr92061830620618807E06940265
chr92061880820619363E06940767
chr92056209320562320E070-15721
chr92060191220602044E07023871
chr92060223920602316E07024198
chr92060260320602728E07024562
chr92060284820602955E07024807
chr92060299020603100E07024949
chr92060312820603180E07025087
chr92061290220613001E07034861
chr92061372420613778E07035683
chr92061678220617147E07038741
chr92061719420617265E07039153
chr92061728820617337E07039247
chr92055049520550588E071-27453
chr92055070620551705E071-26336
chr92055175420552458E071-25583
chr92055248820552581E071-25460
chr92055259920552691E071-25350
chr92055295320553001E071-25040
chr92055306520553766E071-24275
chr92055802420558189E071-19852
chr92055843520559104E071-18937
chr92055940120559467E071-18574
chr92055956520559987E071-18054
chr92056458720564720E071-13321
chr92059223320592273E07114192
chr92059328320593937E07115242
chr92059453320594616E07116492
chr92060145420601608E07123413
chr92060191220602044E07123871
chr92060339520603445E07125354
chr92060345720603520E07125416
chr92060352520603788E07125484
chr92060693520607043E07128894
chr92061036620610416E07132325
chr92061047520610569E07132434
chr92061059320610861E07132552
chr92061649920616718E07138458
chr92061678220617147E07138741
chr92061719420617265E07139153
chr92061728820617337E07139247
chr92061762620617666E07139585
chr92061773420617788E07139693
chr92061800920618280E07139968
chr92061830620618807E07140265
chr92061880820619363E07140767
chr92062539720625447E07147356
chr92062550020625572E07147459
chr92055175420552458E072-25583
chr92055248820552581E072-25460
chr92055259920552691E072-25350
chr92055295320553001E072-25040
chr92055306520553766E072-24275
chr92055802420558189E072-19852
chr92055843520559104E072-18937
chr92059328320593937E07215242
chr92060618220606912E07228141
chr92060693520607043E07228894
chr92061800920618280E07239968
chr92061830620618807E07240265
chr92061880820619363E07240767
chr92053566220535712E073-42329
chr92053572620535786E073-42255
chr92055175420552458E073-25583
chr92055843520559104E073-18937
chr92055940120559467E073-18574
chr92056486720564917E073-13124
chr92059838720598461E07320346
chr92059856920598619E07320528
chr92060260320602728E07324562
chr92060284820602955E07324807
chr92060299020603100E07324949
chr92060312820603180E07325087
chr92060323420603385E07325193
chr92060339520603445E07325354
chr92060345720603520E07325416
chr92060352520603788E07325484
chr92060381620603866E07325775
chr92060387420603924E07325833
chr92060395920604110E07325918
chr92060411820604297E07326077
chr92061036620610416E07332325
chr92061047520610569E07332434
chr92061059320610861E07332552
chr92061678220617147E07338741
chr92061719420617265E07339153
chr92061728820617337E07339247
chr92061762620617666E07339585
chr92061773420617788E07339693
chr92055175420552458E074-25583
chr92055259920552691E074-25350
chr92055295320553001E074-25040
chr92055306520553766E074-24275
chr92055552020555570E074-22471
chr92055566220555745E074-22296
chr92055843520559104E074-18937
chr92056317820563238E074-14803
chr92056336220563412E074-14629
chr92056348420563774E074-14267
chr92056386420563914E074-14127
chr92056397820564058E074-13983
chr92056409620564266E074-13775
chr92059328320593937E07415242
chr92060323420603385E07425193
chr92060339520603445E07425354
chr92060345720603520E07425416
chr92060352520603788E07425484
chr92060618220606912E07428141
chr92060693520607043E07428894
chr92060712120607271E07429080
chr92060734220607410E07429301
chr92061036620610416E07432325
chr92061047520610569E07432434
chr92061059320610861E07432552
chr92061171320612444E07433672
chr92061618120616244E07438140
chr92061636320616403E07438322
chr92061649920616718E07438458
chr92061678220617147E07438741
chr92061719420617265E07439153
chr92061728820617337E07439247
chr92061762620617666E07439585
chr92061773420617788E07439693
chr92061800920618280E07439968
chr92061830620618807E07440265
chr92061880820619363E07440767
chr92062539720625447E07447356
chr92053059820530648E081-47393
chr92054899920549049E081-28992
chr92055175420552458E081-25583
chr92055248820552581E081-25460
chr92055259920552691E081-25350
chr92055463420554684E081-23357
chr92055473420554812E081-23229
chr92055490020554950E081-23091
chr92055802420558189E081-19852
chr92055843520559104E081-18937
chr92055940120559467E081-18574
chr92055956520559987E081-18054
chr92056055220560602E081-17439
chr92056094320560983E081-17058
chr92056107220561240E081-16801
chr92056147320562040E081-16001
chr92056209320562320E081-15721
chr92056263120562671E081-15370
chr92056268820562728E081-15313
chr92056277720562922E081-15119
chr92056295920563137E081-14904
chr92056317820563238E081-14803
chr92056336220563412E081-14629
chr92056348420563774E081-14267
chr92056409620564266E081-13775
chr92056638820566438E081-11603
chr92056683420566884E081-11157
chr92056693420567030E081-11011
chr92056754520567603E081-10438
chr92056775920567813E081-10228
chr92056792120567965E081-10076
chr92056802220568178E081-9863
chr92056894320569056E081-8985
chr92056958320569840E081-8201
chr92059241320592495E08114372
chr92059802820598133E08119987
chr92059838720598461E08120346
chr92059856920598619E08120528
chr92060023120600372E08122190
chr92060046220600516E08122421
chr92060191220602044E08123871
chr92060223920602316E08124198
chr92060260320602728E08124562
chr92060284820602955E08124807
chr92060299020603100E08124949
chr92060312820603180E08125087
chr92060323420603385E08125193
chr92060339520603445E08125354
chr92060345720603520E08125416
chr92060352520603788E08125484
chr92060381620603866E08125775
chr92060387420603924E08125833
chr92060395920604110E08125918
chr92060411820604297E08126077
chr92060435920604604E08126318
chr92060521420605269E08127173
chr92060531020605383E08127269
chr92060552220605576E08127481
chr92060582420605874E08127783
chr92060594720606011E08127906
chr92060618220606912E08128141
chr92060693520607043E08128894
chr92060712120607271E08129080
chr92060734220607410E08129301
chr92060771620607882E08129675
chr92060800220608056E08129961
chr92060856520608689E08130524
chr92060876720608888E08130726
chr92060927520609325E08131234
chr92060974820609860E08131707
chr92061036620610416E08132325
chr92061047520610569E08132434
chr92061059320610861E08132552
chr92061171320612444E08133672
chr92061290220613001E08134861
chr92061304120613091E08135000
chr92061316820613218E08135127
chr92061334120613391E08135300
chr92061341620613466E08135375
chr92061357520613634E08135534
chr92061372420613778E08135683
chr92061468420614740E08136643
chr92061482920614898E08136788
chr92061505220615172E08137011
chr92061520620615296E08137165
chr92061552120615571E08137480
chr92061649920616718E08138458
chr92061678220617147E08138741
chr92062539720625447E08147356
chr92062550020625572E08147459
chr92055175420552458E082-25583
chr92055802420558189E082-19852
chr92055843520559104E082-18937
chr92055940120559467E082-18574
chr92055956520559987E082-18054
chr92056147320562040E082-16001
chr92056209320562320E082-15721
chr92056263120562671E082-15370
chr92056268820562728E082-15313
chr92056277720562922E082-15119
chr92056295920563137E082-14904
chr92056317820563238E082-14803
chr92056336220563412E082-14629
chr92056348420563774E082-14267
chr92056386420563914E082-14127
chr92056397820564058E082-13983
chr92056409620564266E082-13775
chr92056458720564720E082-13321
chr92056683420566884E082-11157
chr92056693420567030E082-11011
chr92056754520567603E082-10438
chr92056775920567813E082-10228
chr92056792120567965E082-10076
chr92056894320569056E082-8985
chr92056958320569840E082-8201
chr92056986620569916E082-8125
chr92059027420590379E08212233
chr92059968520599826E08221644
chr92059994720600060E08221906
chr92060023120600372E08222190
chr92060145420601608E08223413
chr92060352520603788E08225484
chr92060381620603866E08225775
chr92060387420603924E08225833
chr92060395920604110E08225918
chr92060411820604297E08226077
chr92060435920604604E08226318
chr92060594720606011E08227906
chr92060693520607043E08228894
chr92060712120607271E08229080
chr92061171320612444E08233672
chr92061468420614740E08236643
chr92061482920614898E08236788
chr92061552120615571E08237480
chr92062539720625447E08247356
chr92062550020625572E08247459










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr92061963820625246E06741597
chr92060461520604891E06826574
chr92060493320605140E06826892
chr92061963820625246E06841597
chr92061963820625246E06941597
chr92061963820625246E07041597
chr92061963820625246E07141597
chr92061963820625246E07241597
chr92061963820625246E07341597
chr92061963820625246E07441597
chr92061963820625246E08141597
chr92061963820625246E08241597