rs116087723

Homo sapiens
C>T
MTMR4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0015 (478/29990,GnomAD)
T=0023 (681/29118,TOPMED)
T=0020 (100/5008,1000G)
chr17:58507645 (GRCh38.p7) (17q22)
CD
GWASdb2
1   publication(s)
See rs on genome
240 Enhancers around
26 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.58507645C>T
GRCh37.p13 chr 17NC_000017.10:g.56585006C>T

Gene: MTMR4, myotubularin related protein 4(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MTMR4 transcriptNM_004687.4:c.N/AIntron Variant
MTMR4 transcript variant X1XM_005257784.2:c.N/AIntron Variant
MTMR4 transcript variant X2XM_005257785.4:c.N/AIntron Variant
MTMR4 transcript variant X4XM_005257786.4:c.N/AIntron Variant
MTMR4 transcript variant X5XM_006722168.3:c.N/AIntron Variant
MTMR4 transcript variant X3XM_011525460.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.925T=0.075
1000GenomesAmericanSub694C=1.000T=0.000
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=1.000T=0.000
1000GenomesGlobalStudy-wide5008C=0.980T=0.020
1000GenomesSouth AsianSub978C=1.000T=0.000
The Genome Aggregation DatabaseAfricanSub8728C=0.945T=0.055
The Genome Aggregation DatabaseAmericanSub838C=1.000T=0.000
The Genome Aggregation DatabaseEast AsianSub1620C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18502C=0.999T=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29990C=0.984T=0.015
The Genome Aggregation DatabaseOtherSub302C=1.000T=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.976T=0.023
PMID Title Author Journal
23958962Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.Gelernter JMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs1160877230.000292cocaine dependence23958962

eQTL of rs116087723 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 rs116087723 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 )
chr175656786156567915E067-17091
chr175656814256568212E067-16794
chr175656830456568348E067-16658
chr175656888756569384E067-15622
chr175658961656589975E0674610
chr175658998556590062E0674979
chr175659011656590189E0675110
chr175659019156590242E0675185
chr175659025956590442E0675253
chr175659288756592957E0677881
chr175659300756593174E0678001
chr175659319056593366E0678184
chr175659338556593504E0678379
chr175659351256593635E0678506
chr175660229656603187E06717290
chr175660332256603373E06718316
chr175660725156607374E06722245
chr175660743656607530E06722430
chr175660757556608075E06722569
chr175661036956610623E06725363
chr175661069256610958E06725686
chr175661097256611209E06725966
chr175661125056611778E06726244
chr175661182356612070E06726817
chr175661208756612175E06727081
chr175661218456612703E06727178
chr175661287856613192E06727872
chr175661614256616418E06731136
chr175661643056616722E06731424
chr175661672856617015E06731722
chr175661715356617419E06732147
chr175661870456618867E06733698
chr175663358956633717E06748583
chr175663419256634594E06749186
chr175663467156634721E06749665
chr175656706656567715E068-17291
chr175656786156567915E068-17091
chr175656814256568212E068-16794
chr175656830456568348E068-16658
chr175658961656589975E0684610
chr175658998556590062E0684979
chr175659011656590189E0685110
chr175659019156590242E0685185
chr175659025956590442E0685253
chr175659288756592957E0687881
chr175659300756593174E0688001
chr175659319056593366E0688184
chr175659338556593504E0688379
chr175659351256593635E0688506
chr175660229656603187E06817290
chr175661036956610623E06825363
chr175661069256610958E06825686
chr175661097256611209E06825966
chr175661125056611778E06826244
chr175661182356612070E06826817
chr175661208756612175E06827081
chr175661218456612703E06827178
chr175661287856613192E06827872
chr175663145656631526E06846450
chr175663240056632450E06847394
chr175663245756632725E06847451
chr175663358956633717E06848583
chr175663419256634594E06849186
chr175656706656567715E069-17291
chr175656786156567915E069-17091
chr175656814256568212E069-16794
chr175656830456568348E069-16658
chr175659019156590242E0695185
chr175659025956590442E0695253
chr175659288756592957E0697881
chr175659300756593174E0698001
chr175659319056593366E0698184
chr175659338556593504E0698379
chr175659351256593635E0698506
chr175659908556599225E06914079
chr175659926156599495E06914255
chr175660229656603187E06917290
chr175661036956610623E06925363
chr175661069256610958E06925686
chr175661097256611209E06925966
chr175661125056611778E06926244
chr175661182356612070E06926817
chr175661208756612175E06927081
chr175661218456612703E06927178
chr175661564756615794E06930641
chr175661614256616418E06931136
chr175661643056616722E06931424
chr175661672856617015E06931722
chr175661715356617419E06932147
chr175661928856619368E06934282
chr175663358956633717E06948583
chr175663419256634594E06949186
chr175656786156567915E070-17091
chr175656814256568212E070-16794
chr175656830456568348E070-16658
chr175657201456572078E070-12928
chr175657209156572219E070-12787
chr175657233156572425E070-12581
chr175658945756589530E0704451
chr175659288756592957E0707881
chr175659300756593174E0708001
chr175659319056593366E0708184
chr175659338556593504E0708379
chr175659351256593635E0708506
chr175661584756615960E07030841
chr175661597656616099E07030970
chr175661614256616418E07031136
chr175661643056616722E07031424
chr175661672856617015E07031722
chr175656706656567715E071-17291
chr175656786156567915E071-17091
chr175656814256568212E071-16794
chr175656830456568348E071-16658
chr175659019156590242E0715185
chr175659025956590442E0715253
chr175659288756592957E0717881
chr175659300756593174E0718001
chr175659319056593366E0718184
chr175659338556593504E0718379
chr175659351256593635E0718506
chr175659717956597848E07112173
chr175659788856597942E07112882
chr175659794456598081E07112938
chr175659810256598213E07113096
chr175659826156598661E07113255
chr175659887156598939E07113865
chr175659908556599225E07114079
chr175659926156599495E07114255
chr175659966456599730E07114658
chr175660109756601228E07116091
chr175660144456601599E07116438
chr175661036956610623E07125363
chr175661069256610958E07125686
chr175661097256611209E07125966
chr175661125056611778E07126244
chr175661182356612070E07126817
chr175661208756612175E07127081
chr175661218456612703E07127178
chr175661287856613192E07127872
chr175661614256616418E07131136
chr175661643056616722E07131424
chr175661870456618867E07133698
chr175661928856619368E07134282
chr175663240056632450E07147394
chr175663245756632725E07147451
chr175663358956633717E07148583
chr175663419256634594E07149186
chr175663467156634721E07149665
chr175656706656567715E072-17291
chr175656786156567915E072-17091
chr175656814256568212E072-16794
chr175656830456568348E072-16658
chr175658961656589975E0724610
chr175658998556590062E0724979
chr175659011656590189E0725110
chr175659019156590242E0725185
chr175659025956590442E0725253
chr175659810256598213E07213096
chr175659826156598661E07213255
chr175659887156598939E07213865
chr175659908556599225E07214079
chr175659926156599495E07214255
chr175660229656603187E07217290
chr175661036956610623E07225363
chr175661069256610958E07225686
chr175661097256611209E07225966
chr175661125056611778E07226244
chr175661182356612070E07226817
chr175661208756612175E07227081
chr175661218456612703E07227178
chr175661287856613192E07227872
chr175661952056619578E07234514
chr175663145656631526E07246450
chr175663358956633717E07248583
chr175663419256634594E07249186
chr175663467156634721E07249665
chr175656786156567915E073-17091
chr175656814256568212E073-16794
chr175656830456568348E073-16658
chr175656888756569384E073-15622
chr175658998556590062E0734979
chr175659011656590189E0735110
chr175659019156590242E0735185
chr175659025956590442E0735253
chr175659717956597848E07312173
chr175659788856597942E07312882
chr175659794456598081E07312938
chr175659810256598213E07313096
chr175659826156598661E07313255
chr175659887156598939E07313865
chr175659908556599225E07314079
chr175659926156599495E07314255
chr175660229656603187E07317290
chr175660332256603373E07318316
chr175660743656607530E07322430
chr175660757556608075E07322569
chr175661097256611209E07325966
chr175661125056611778E07326244
chr175661182356612070E07326817
chr175661208756612175E07327081
chr175661218456612703E07327178
chr175661287856613192E07327872
chr175661643056616722E07331424
chr175661672856617015E07331722
chr175656706656567715E074-17291
chr175656786156567915E074-17091
chr175656814256568212E074-16794
chr175656830456568348E074-16658
chr175659019156590242E0745185
chr175659025956590442E0745253
chr175659338556593504E0748379
chr175659351256593635E0748506
chr175659908556599225E07414079
chr175659926156599495E07414255
chr175660109756601228E07416091
chr175660144456601599E07416438
chr175660229656603187E07417290
chr175660332256603373E07418316
chr175661036956610623E07425363
chr175661069256610958E07425686
chr175661097256611209E07425966
chr175661125056611778E07426244
chr175661182356612070E07426817
chr175661208756612175E07427081
chr175661218456612703E07427178
chr175661870456618867E07433698
chr175663358956633717E07448583
chr175663419256634594E07449186
chr175658945756589530E0814451
chr175658961656589975E0814610
chr175658998556590062E0814979
chr175659011656590189E0815110
chr175659019156590242E0815185
chr175660811756608205E08123111
chr175660831456608374E08123308
chr175659288756592957E0827881
chr175659300756593174E0828001
chr175659319056593366E0828184
chr175659338556593504E0828379
chr175659351256593635E0828506










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr175659367256596758E0678666
chr175659680556597028E06711799
chr175659706756597127E06712061
chr175660839256610129E06723386
chr175659367256596758E0688666
chr175660839256610129E06823386
chr175659367256596758E0698666
chr175660839256610129E06923386
chr175659367256596758E0708666
chr175659680556597028E07011799
chr175660839256610129E07023386
chr175659367256596758E0718666
chr175660839256610129E07123386
chr175659367256596758E0728666
chr175659680556597028E07211799
chr175660839256610129E07223386
chr175659367256596758E0738666
chr175659680556597028E07311799
chr175659706756597127E07312061
chr175660839256610129E07323386
chr175659367256596758E0748666
chr175660839256610129E07423386
chr175659367256596758E0818666
chr175659367256596758E0828666
chr175659680556597028E08211799
chr175660839256610129E08223386