rs7252741

Homo sapiens
T>C
MBD3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0236 (7053/29882,GnomAD)
C=0218 (6357/29118,TOPMED)
C=0261 (1308/5008,1000G)
C=0227 (874/3854,ALSPAC)
C=0212 (787/3708,TWINSUK)
chr19:1580335 (GRCh38.p7) (19p13.3)
AD
GWASdb2
2   publication(s)
See rs on genome
129 Enhancers around
30 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.1580335T>C
GRCh37.p13 chr 19NC_000019.9:g.1580334T>C
MBD3 RefSeqGeneNG_029897.2:g.17319A>G

Gene: MBD3, methyl-CpG binding domain protein 3(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MBD3 transcript variant 1NM_001281453.1:c.N/AIntron Variant
MBD3 transcript variant 2NM_001281454.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.742C=0.258
1000GenomesAmericanSub694T=0.730C=0.270
1000GenomesEast AsianSub1008T=0.612C=0.388
1000GenomesEuropeSub1006T=0.781C=0.219
1000GenomesGlobalStudy-wide5008T=0.739C=0.261
1000GenomesSouth AsianSub978T=0.830C=0.170
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.773C=0.227
The Genome Aggregation DatabaseAfricanSub8692T=0.744C=0.256
The Genome Aggregation DatabaseAmericanSub838T=0.800C=0.200
The Genome Aggregation DatabaseEast AsianSub1618T=0.590C=0.410
The Genome Aggregation DatabaseEuropeSub18432T=0.787C=0.212
The Genome Aggregation DatabaseGlobalStudy-wide29882T=0.764C=0.236
The Genome Aggregation DatabaseOtherSub302T=0.740C=0.260
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.781C=0.218
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.788C=0.212
PMID Title Author Journal
24849540Genetic association study between methyl-CpG-binding domain genes and schizophrenia among Chinese family trios.Xie BPsychiatr Genet
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs72527410.000552alcohol dependence24277619

eQTL of rs7252741 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 rs7252741 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 )
chr1915655511565688E067-14646
chr1916028991603034E06722565
chr1916031061603156E06722772
chr1916031821603346E06722848
chr1916036411603806E06723307
chr1916038211603914E06723487
chr1916066221606700E06726288
chr1916068071606887E06726473
chr1916069151607095E06726581
chr1916031061603156E06822772
chr1916031821603346E06822848
chr1916036411603806E06823307
chr1916038211603914E06823487
chr1916273781627428E06847044
chr1916274911627541E06847157
chr1916277551627816E06847421
chr1915655511565688E069-14646
chr1915691271569245E069-11089
chr1915942941594376E06913960
chr1916026561602887E06922322
chr1916028991603034E06922565
chr1916031061603156E06922772
chr1916031821603346E06922848
chr1916036411603806E06923307
chr1916038211603914E06923487
chr1916066221606700E06926288
chr1915543151554447E070-25887
chr1915546281554688E070-25646
chr1915601301560201E070-20133
chr1915602491560303E070-20031
chr1915603281560756E070-19578
chr1915610971561253E070-19081
chr1915612721561338E070-18996
chr1915634621563561E070-16773
chr1915636271563667E070-16667
chr1915636721563726E070-16608
chr1915637961563935E070-16399
chr1915643681564409E070-15925
chr1915895671590100E0709233
chr1915902341590370E0709900
chr1915903901590594E07010056
chr1916066221606700E07026288
chr1916182411618780E07037907
chr1916187851618901E07038451
chr1915655511565688E071-14646
chr1915691271569245E071-11089
chr1916026561602887E07122322
chr1916028991603034E07122565
chr1916031061603156E07122772
chr1916031821603346E07122848
chr1916036411603806E07123307
chr1916038211603914E07123487
chr1916066221606700E07126288
chr1916068071606887E07126473
chr1916069151607095E07126581
chr1915655511565688E072-14646
chr1916026561602887E07222322
chr1916028991603034E07222565
chr1916031061603156E07222772
chr1916031821603346E07222848
chr1916036411603806E07223307
chr1916038211603914E07223487
chr1916243921624905E07244058
chr1916249961625046E07244662
chr1915415071541636E073-38698
chr1915416741541740E073-38594
chr1915942941594376E07313960
chr1916012241601322E07320890
chr1916013821601432E07321048
chr1916016711601901E07321337
chr1916026561602887E07322322
chr1916028991603034E07322565
chr1916031061603156E07322772
chr1916031821603346E07322848
chr1916036411603806E07323307
chr1916038211603914E07323487
chr1916066221606700E07326288
chr1916036411603806E07423307
chr1916038211603914E07423487
chr1915403201540856E081-39478
chr1915598801559970E081-20364
chr1915601301560201E081-20133
chr1915602491560303E081-20031
chr1915603281560756E081-19578
chr1915608731560923E081-19411
chr1915609751561088E081-19246
chr1915610971561253E081-19081
chr1915612721561338E081-18996
chr1915634621563561E081-16773
chr1915636271563667E081-16667
chr1915636721563726E081-16608
chr1915637961563935E081-16399
chr1915643681564409E081-15925
chr1915646631564707E081-15627
chr1915647601564849E081-15485
chr1915649041565077E081-15257
chr1915652621565318E081-15016
chr1915655511565688E081-14646
chr1915691271569245E081-11089
chr1916026561602887E08122322
chr1916028991603034E08122565
chr1916031061603156E08122772
chr1916031821603346E08122848
chr1916036411603806E08123307
chr1916038211603914E08123487
chr1915595771559632E082-20702
chr1915596441559694E082-20640
chr1915596971559757E082-20577
chr1915598801559970E082-20364
chr1915601301560201E082-20133
chr1915602491560303E082-20031
chr1915603281560756E082-19578
chr1915608731560923E082-19411
chr1915609751561088E082-19246
chr1915610971561253E082-19081
chr1915634621563561E082-16773
chr1915636271563667E082-16667
chr1915636721563726E082-16608
chr1915637961563935E082-16399
chr1915643681564409E082-15925
chr1915646631564707E082-15627
chr1915647601564849E082-15485
chr1915649041565077E082-15257
chr1915903901590594E08210056
chr1916026561602887E08222322
chr1916028991603034E08222565
chr1916031061603156E08222772
chr1916066221606700E08226288
chr1916292961629336E08248962










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1915661861567711E067-12623
chr1915906891594023E06710355
chr1916047691606568E06724435
chr1915661861567711E068-12623
chr1915906891594023E06810355
chr1916047691606568E06824435
chr1915661861567711E069-12623
chr1915906891594023E06910355
chr1916047691606568E06924435
chr1915661861567711E070-12623
chr1915906891594023E07010355
chr1916047691606568E07024435
chr1915661861567711E071-12623
chr1915906891594023E07110355
chr1916047691606568E07124435
chr1915661861567711E072-12623
chr1915906891594023E07210355
chr1916047691606568E07224435
chr1915661861567711E073-12623
chr1915677251569083E073-11251
chr1915906891594023E07310355
chr1916047691606568E07324435
chr1915661861567711E074-12623
chr1915906891594023E07410355
chr1916047691606568E07424435
chr1916047691606568E08124435
chr1915661861567711E082-12623
chr1915677251569083E082-11251
chr1915906891594023E08210355
chr1916047691606568E08224435