rs6866391

Homo sapiens
A>G
MAST4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0029 (883/29966,GnomAD)
G=0041 (1206/29118,TOPMED)
G=0031 (156/5008,1000G)
G=0007 (27/3854,ALSPAC)
G=0006 (23/3708,TWINSUK)
chr5:67028247 (GRCh38.p7) (5q12.3)
AD
GWASdb2
1   publication(s)
See rs on genome
168 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.67028247A>G
GRCh37.p13 chr 5NC_000005.9:g.66324075A>G
MAST4 RefSeqGeneNG_034036.1:g.436900A>G

Gene: MAST4, microtubule associated serine/threonine kinase family member 4(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MAST4 transcript variant 3NM_001164664.1:c.N/AIntron Variant
MAST4 transcript variant 4NM_001290226.1:c.N/AIntron Variant
MAST4 transcript variant 5NM_001290227.1:c.N/AIntron Variant
MAST4 transcript variant 7NM_001297651.1:c.N/AIntron Variant
MAST4 transcript variant 1NM_015183.2:c.N/AIntron Variant
MAST4 transcript variant 6NM_001290228.1:c.N/AGenic Downstream Transcript Variant
MAST4 transcript variant 2NM_198828.2:c.N/AGenic Downstream Transcript Variant
MAST4 transcript variant X3XM_006714606.3:c.N/AIntron Variant
MAST4 transcript variant X8XM_006714610.2:c.N/AIntron Variant
MAST4 transcript variant X2XM_011543382.2:c.N/AIntron Variant
MAST4 transcript variant X8XM_011543385.2:c.N/AIntron Variant
MAST4 transcript variant X7XM_011543386.2:c.N/AIntron Variant
MAST4 transcript variant X1XM_017009447.1:c.N/AIntron Variant
MAST4 transcript variant X3XM_017009448.1:c.N/AIntron Variant
MAST4 transcript variant X2XM_017009449.1:c.N/AIntron Variant
MAST4 transcript variant X5XM_017009450.1:c.N/AIntron Variant
MAST4 transcript variant X9XM_017009451.1:c.N/AIntron Variant
MAST4 transcript variant X10XM_017009452.1:c.N/AIntron Variant
MAST4 transcript variant X11XM_017009453.1:c.N/AIntron Variant
MAST4 transcript variant X4XM_011543384.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.905G=0.095
1000GenomesAmericanSub694A=0.990G=0.010
1000GenomesEast AsianSub1008A=1.000G=0.000
1000GenomesEuropeSub1006A=0.988G=0.012
1000GenomesGlobalStudy-wide5008A=0.969G=0.031
1000GenomesSouth AsianSub978A=0.990G=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.993G=0.007
The Genome Aggregation DatabaseAfricanSub8718A=0.910G=0.090
The Genome Aggregation DatabaseAmericanSub838A=0.990G=0.010
The Genome Aggregation DatabaseEast AsianSub1610A=0.999G=0.001
The Genome Aggregation DatabaseEuropeSub18498A=0.995G=0.005
The Genome Aggregation DatabaseGlobalStudy-wide29966A=0.970G=0.029
The Genome Aggregation DatabaseOtherSub302A=1.000G=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.958G=0.041
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.994G=0.006
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs68663910.000379alcohol dependence20201924

eQTL of rs6866391 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 rs6866391 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 )
chr56627650366276600E067-47475
chr56627670166276802E067-47273
chr56627685166276898E067-47177
chr56627693066276992E067-47083
chr56627740466277931E067-46144
chr56627796866278054E067-46021
chr56627817466278273E067-45802
chr56627842866278575E067-45500
chr56628376066283807E067-40268
chr56628385066284193E067-39882
chr56628769266287815E067-36260
chr56629900566299222E067-24853
chr56633287266332922E0678797
chr56634308966343269E06719014
chr56634603366346296E06721958
chr56634647266346562E06722397
chr56634657166346758E06722496
chr56635490766355094E06730832
chr56636538166365517E06741306
chr56627670166276802E068-47273
chr56627685166276898E068-47177
chr56627693066276992E068-47083
chr56627740466277931E068-46144
chr56627796866278054E068-46021
chr56627817466278273E068-45802
chr56627842866278575E068-45500
chr56627939066279561E068-44514
chr56629837466298453E068-25622
chr56629847066298683E068-25392
chr56630631766308415E068-15660
chr56630997766310017E068-14058
chr56634279466342866E06818719
chr56634308966343269E06819014
chr56635490766355094E06830832
chr56635520066355454E06831125
chr56635553866355870E06831463
chr56636124366361383E06837168
chr56636143466361539E06837359
chr56636622066366277E06842145
chr56627740466277931E069-46144
chr56627796866278054E069-46021
chr56627817466278273E069-45802
chr56627842866278575E069-45500
chr56628933966289394E069-34681
chr56628942066289500E069-34575
chr56628980166289941E069-34134
chr56629869166299004E069-25071
chr56629900566299222E069-24853
chr56632622566326777E0692150
chr56632701466327147E0692939
chr56632978266330532E0695707
chr56634603366346296E06921958
chr56634647266346562E06922397
chr56634657166346758E06922496
chr56634681066347465E06922735
chr56635490766355094E06930832
chr56636124366361383E06937168
chr56636143466361539E06937359
chr56636267366362773E06938598
chr56636280866362895E06938733
chr56633795666338962E07013881
chr56636143466361539E07037359
chr56636163466361887E07037559
chr56627624666276296E071-47779
chr56627740466277931E071-46144
chr56627796866278054E071-46021
chr56627817466278273E071-45802
chr56627842866278575E071-45500
chr56627939066279561E071-44514
chr56628933966289394E071-34681
chr56628942066289500E071-34575
chr56629847066298683E071-25392
chr56629869166299004E071-25071
chr56629900566299222E071-24853
chr56630997766310017E071-14058
chr56632622566326777E0712150
chr56632701466327147E0712939
chr56632720366327278E0713128
chr56632763066327899E0713555
chr56632978266330532E0715707
chr56633795666338962E07113881
chr56634647266346562E07122397
chr56634657166346758E07122496
chr56634681066347465E07122735
chr56635553866355870E07131463
chr56635587366355934E07131798
chr56627624666276296E072-47779
chr56627740466277931E072-46144
chr56627796866278054E072-46021
chr56627817466278273E072-45802
chr56627842866278575E072-45500
chr56634308966343269E07219014
chr56634603366346296E07221958
chr56634647266346562E07222397
chr56634657166346758E07222496
chr56634681066347465E07222735
chr56636124366361383E07237168
chr56636143466361539E07237359
chr56636163466361887E07237559
chr56636478466364928E07240709
chr56636538166365517E07241306
chr56627624666276296E073-47779
chr56627650366276600E073-47475
chr56627670166276802E073-47273
chr56627685166276898E073-47177
chr56627693066276992E073-47083
chr56627740466277931E073-46144
chr56627796866278054E073-46021
chr56627817466278273E073-45802
chr56628055866280618E073-43457
chr56632622566326777E0732150
chr56633795666338962E07313881
chr56634308966343269E07319014
chr56634353466343676E07319459
chr56634367866343730E07319603
chr56634603366346296E07321958
chr56634647266346562E07322397
chr56634657166346758E07322496
chr56636538166365517E07341306
chr56636559666365885E07341521
chr56636622066366277E07342145
chr56627600366276158E074-47917
chr56627624666276296E074-47779
chr56627650366276600E074-47475
chr56627670166276802E074-47273
chr56627685166276898E074-47177
chr56627693066276992E074-47083
chr56627740466277931E074-46144
chr56627796866278054E074-46021
chr56627817466278273E074-45802
chr56627842866278575E074-45500
chr56629837466298453E074-25622
chr56629847066298683E074-25392
chr56629869166299004E074-25071
chr56629900566299222E074-24853
chr56633513666335436E07411061
chr56633795666338962E07413881
chr56634308966343269E07419014
chr56634353466343676E07419459
chr56634367866343730E07419603
chr56634603366346296E07421958
chr56634647266346562E07422397
chr56634657166346758E07422496
chr56635490766355094E07430832
chr56635520066355454E07431125
chr56636559666365885E07441521
chr56627670166276802E081-47273
chr56627685166276898E081-47177
chr56627693066276992E081-47083
chr56627740466277931E081-46144
chr56627796866278054E081-46021
chr56627817466278273E081-45802
chr56627842866278575E081-45500
chr56631659266317384E081-6691
chr56631774966318400E081-5675
chr56632904666329509E0814971
chr56632952666329637E0815451
chr56632978266330532E0815707
chr56633090766331140E0816832
chr56633127366331453E0817198
chr56633705166337105E08112976
chr56634226266342512E08118187
chr56634269366342743E08118618
chr56634279466342866E08118719
chr56634308966343269E08119014
chr56634353466343676E08119459
chr56634367866343730E08119603
chr56633795666338962E08213881










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr56629925866299484E067-24591
chr56629948966301372E067-22703
chr56629925866299484E068-24591
chr56629948966301372E068-22703
chr56629948966301372E069-22703
chr56629925866299484E070-24591
chr56629948966301372E070-22703
chr56629948966301372E071-22703
chr56630143966302775E071-21300
chr56629925866299484E072-24591
chr56629948966301372E072-22703
chr56629925866299484E073-24591
chr56629948966301372E073-22703
chr56629948966301372E074-22703
chr56629925866299484E081-24591
chr56629948966301372E081-22703
chr56630143966302775E081-21300
chr56629925866299484E082-24591
chr56629948966301372E082-22703