rs2229515

Homo sapiens
T>C
TJP1 : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0131 (15840/120732,ExAC)
C=0097 (2927/29974,GnomAD)
C=0098 (2875/29118,TOPMED)
T==0097 (1161/11894,GO-ESP)
C=0142 (710/5008,1000G)
C=0101 (390/3854,ALSPAC)
C=0106 (394/3708,TWINSUK)
chr15:29726423 (GRCh38.p7) (15q13.1)
ND
GWASdb2
1   publication(s)
See rs on genome
190 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.29726423T>C
GRCh37.p13 chr 15NC_000015.9:g.30018627T>C
GRCh38.p7 chr 15 fix patch HG2139_PATCHNW_011332701.1:g.1898070T>C
GRCh38.p7 chr 15 alt locus HSCHR15_4_CTG8NT_187660.1:g.2010554T>C

Gene: TJP1, tight junction protein 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TJP1 transcript variant 2NM_175610.3:c.236...NM_175610.3:c.2368A>GI [ATT]> V [GTT]Coding Sequence Variant
tight junction protein ZO-1 isoform bNP_783297.2:p.Ile...NP_783297.2:p.Ile790ValI [Ile]> V [Val]Missense Variant
TJP1 transcript variant 3NM_001301025.1:c....NM_001301025.1:c.2569A>GI [ATT]> V [GTT]Coding Sequence Variant
tight junction protein ZO-1 isoform cNP_001287954.1:p....NP_001287954.1:p.Ile857ValI [Ile]> V [Val]Missense Variant
TJP1 transcript variant 1NM_003257.4:c.236...NM_003257.4:c.2368A>GI [ATT]> V [GTT]Coding Sequence Variant
tight junction protein ZO-1 isoform aNP_003248.3:p.Ile...NP_003248.3:p.Ile790ValI [Ile]> V [Val]Missense Variant
TJP1 transcript variant 4NM_001301026.1:c....NM_001301026.1:c.2380A>GI [ATT]> V [GTT]Coding Sequence Variant
tight junction protein ZO-1 isoform dNP_001287955.1:p....NP_001287955.1:p.Ile794ValI [Ile]> V [Val]Missense Variant
TJP1 transcript variant X1XM_017022521.1:c....XM_017022521.1:c.2647A>GI [ATT]> V [GTT]Coding Sequence Variant
tight junction protein ZO-1 isoform X1XP_016878010.1:p....XP_016878010.1:p.Ile883ValI [Ile]> V [Val]Missense Variant
TJP1 transcript variant X2XM_017022522.1:c....XM_017022522.1:c.2647A>GI [ATT]> V [GTT]Coding Sequence Variant
tight junction protein ZO-1 isoform X2XP_016878011.1:p....XP_016878011.1:p.Ile883ValI [Ile]> V [Val]Missense Variant
TJP1 transcript variant X3XM_017022523.1:c....XM_017022523.1:c.2647A>GI [ATT]> V [GTT]Coding Sequence Variant
tight junction protein ZO-1 isoform X3XP_016878012.1:p....XP_016878012.1:p.Ile883ValI [Ile]> V [Val]Missense Variant
TJP1 transcript variant X4XM_011521972.2:c....XM_011521972.2:c.2647A>GI [ATT]> V [GTT]Coding Sequence Variant
tight junction protein ZO-1 isoform X4XP_011520274.2:p....XP_011520274.2:p.Ile883ValI [Ile]> V [Val]Missense Variant
TJP1 transcript variant X5XM_005254617.3:c....XM_005254617.3:c.2647A>GI [ATT]> V [GTT]Coding Sequence Variant
tight junction protein ZO-1 isoform X5XP_005254674.2:p....XP_005254674.2:p.Ile883ValI [Ile]> V [Val]Missense Variant
TJP1 transcript variant X5XM_017022524.1:c....XM_017022524.1:c.2647A>GI [ATT]> V [GTT]Coding Sequence Variant
tight junction protein ZO-1 isoform X5XP_016878013.1:p....XP_016878013.1:p.Ile883ValI [Ile]> V [Val]Missense Variant
TJP1 transcript variant X6XM_017022525.1:c....XM_017022525.1:c.2380A>GI [ATT]> V [GTT]Coding Sequence Variant
tight junction protein ZO-1 isoform X6XP_016878014.1:p....XP_016878014.1:p.Ile794ValI [Ile]> V [Val]Missense Variant
TJP1 transcript variant X7XM_017022526.1:c....XM_017022526.1:c.2368A>GI [ATT]> V [GTT]Coding Sequence Variant
tight junction protein ZO-1 isoform X7XP_016878015.1:p....XP_016878015.1:p.Ile790ValI [Ile]> V [Val]Missense Variant
TJP1 transcript variant X8XM_017022527.1:c....XM_017022527.1:c.2362A>GI [ATT]> V [GTT]Coding Sequence Variant
tight junction protein ZO-1 isoform X8XP_016878016.1:p....XP_016878016.1:p.Ile788ValI [Ile]> V [Val]Missense Variant
TJP1 transcript variant X9XM_005254619.3:c....XM_005254619.3:c.2647A>GI [ATT]> V [GTT]Coding Sequence Variant
tight junction protein ZO-1 isoform X9XP_005254676.2:p....XP_005254676.2:p.Ile883ValI [Ile]> V [Val]Missense Variant
TJP1 transcript variant X11XM_005254618.3:c....XM_005254618.3:c.2368A>GI [ATT]> V [GTT]Coding Sequence Variant
tight junction protein ZO-1 isoform X11XP_005254675.1:p....XP_005254675.1:p.Ile790ValI [Ile]> V [Val]Missense Variant
TJP1 transcript variant X10XM_005254620.3:c....XM_005254620.3:c.2647A>GI [ATT]> V [GTT]Coding Sequence Variant
tight junction protein ZO-1 isoform X10XP_005254677.2:p....XP_005254677.2:p.Ile883ValI [Ile]> V [Val]Missense Variant
TJP1 transcript variant X13XM_017022528.1:c....XM_017022528.1:c.2380A>GI [ATT]> V [GTT]Coding Sequence Variant
tight junction protein ZO-1 isoform X13XP_016878017.1:p....XP_016878017.1:p.Ile794ValI [Ile]> V [Val]Missense Variant
TJP1 transcript variant X14XM_017022529.1:c....XM_017022529.1:c.2368A>GI [ATT]> V [GTT]Coding Sequence Variant
tight junction protein ZO-1 isoform X14XP_016878018.1:p....XP_016878018.1:p.Ile790ValI [Ile]> V [Val]Missense Variant
TJP1 transcript variant X15XM_017022530.1:c....XM_017022530.1:c.2368A>GI [ATT]> V [GTT]Coding Sequence Variant
tight junction protein ZO-1 isoform X15XP_016878019.1:p....XP_016878019.1:p.Ile790ValI [Ile]> V [Val]Missense Variant
TJP1 transcript variant X11XM_017022531.1:c....XM_017022531.1:c.1369A>GI [ATT]> V [GTT]Coding Sequence Variant
tight junction protein ZO-1 isoform X11XP_016878020.1:p....XP_016878020.1:p.Ile457ValI [Ile]> V [Val]Missense Variant

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 )
chr152996964929969711E067-48916
chr152996983529969879E067-48748
chr152997008329970168E067-48459
chr152999045129990987E067-27640
chr153004136830041589E06722741
chr153004171230042099E06723085
chr153004828330048479E06729656
chr153004863530049541E06730008
chr153004971830049768E06731091
chr153005697330057043E06738346
chr153005735230057419E06738725
chr153005748930057749E06738862
chr153005776130057938E06739134
chr153005820530058285E06739578
chr153005843630058673E06739809
chr153005879130058854E06740164
chr153005898630059030E06740359
chr153005934530059497E06740718
chr153005964130059940E06741014
chr153006667730066811E06748050
chr153006715230067467E06748525
chr153006756430067671E06748937
chr153006770630067788E06749079
chr153006809830068167E06749471
chr153006825330068331E06749626
chr153006837930068429E06749752
chr152999045129990987E068-27640
chr152999707929997166E068-21461
chr152999728629997336E068-21291
chr153002073630020900E0682109
chr153002093830021014E0682311
chr153004136830041589E06822741
chr153004171230042099E06823085
chr153004828330048479E06829656
chr153004863530049541E06830008
chr153004971830049768E06831091
chr153004983030049910E06831203
chr153004994330050022E06831316
chr153005005330050224E06831426
chr153005697330057043E06838346
chr153005735230057419E06838725
chr153005748930057749E06838862
chr153005776130057938E06839134
chr153005820530058285E06839578
chr153005843630058673E06839809
chr153005879130058854E06840164
chr153005898630059030E06840359
chr153005934530059497E06840718
chr153005964130059940E06841014
chr153006000030060080E06841373
chr153006012530060175E06841498
chr153006029330060362E06841666
chr153006037730060521E06841750
chr153006536730065514E06846740
chr153006667730066811E06848050
chr153006715230067467E06848525
chr153006756430067671E06848937
chr153006770630067788E06849079
chr153006809830068167E06849471
chr153006825330068331E06849626
chr153006837930068429E06849752
chr152997018029970913E069-47714
chr152998473729984795E069-33832
chr152998485529984963E069-33664
chr152998498229985134E069-33493
chr152998516029985229E069-33398
chr153004042430040537E06921797
chr153004089730041014E06922270
chr153004105230041103E06922425
chr153004121530041318E06922588
chr153004136830041589E06922741
chr153004171230042099E06923085
chr153004828330048479E06929656
chr153004863530049541E06930008
chr153005776130057938E06939134
chr153005820530058285E06939578
chr153005843630058673E06939809
chr153005879130058854E06940164
chr153005898630059030E06940359
chr153005934530059497E06940718
chr153006350230063552E06944875
chr153006667730066811E06948050
chr153006715230067467E06948525
chr153006756430067671E06948937
chr153006770630067788E06949079
chr153006809830068167E06949471
chr153006825330068331E06949626
chr153006837930068429E06949752
chr152996872429968772E070-49855
chr152996884929969575E070-49052
chr153006825330068331E07049626
chr153006837930068429E07049752
chr153004171230042099E07123085
chr153004828330048479E07129656
chr153004863530049541E07130008
chr153005820530058285E07139578
chr153005843630058673E07139809
chr153005879130058854E07140164
chr153005898630059030E07140359
chr153005934530059497E07140718
chr153005964130059940E07141014
chr153006000030060080E07141373
chr153006012530060175E07141498
chr153006029330060362E07141666
chr153006037730060521E07141750
chr153006350230063552E07144875
chr153006614930066266E07147522
chr153006667730066811E07148050
chr153006715230067467E07148525
chr153006756430067671E07148937
chr153006770630067788E07149079
chr153006809830068167E07149471
chr153006825330068331E07149626
chr153006837930068429E07149752
chr152996964929969711E072-48916
chr152996983529969879E072-48748
chr152997008329970168E072-48459
chr152997018029970913E072-47714
chr152998965629989966E072-28661
chr152999014529990321E072-28306
chr152999045129990987E072-27640
chr153004089730041014E07222270
chr153004105230041103E07222425
chr153004121530041318E07222588
chr153004136830041589E07222741
chr153004171230042099E07223085
chr153004740630047456E07228779
chr153004748930047554E07228862
chr153004828330048479E07229656
chr153004863530049541E07230008
chr153005226430052315E07233637
chr153005843630058673E07239809
chr153005879130058854E07240164
chr153006350230063552E07244875
chr153006715230067467E07248525
chr153006756430067671E07248937
chr153006770630067788E07249079
chr153006809830068167E07249471
chr152997008329970168E073-48459
chr152997018029970913E073-47714
chr153004105230041103E07322425
chr153004121530041318E07322588
chr153004136830041589E07322741
chr153004171230042099E07323085
chr153004863530049541E07330008
chr153005820530058285E07339578
chr153005843630058673E07339809
chr153005879130058854E07340164
chr153005898630059030E07340359
chr153005934530059497E07340718
chr153006715230067467E07348525
chr153006756430067671E07348937
chr153006770630067788E07349079
chr153006809830068167E07349471
chr153006825330068331E07349626
chr153006837930068429E07349752
chr153004016230040419E07421535
chr153004042430040537E07421797
chr153004136830041589E07422741
chr153004171230042099E07423085
chr153004828330048479E07429656
chr153004863530049541E07430008
chr153005697330057043E07438346
chr153005735230057419E07438725
chr153005748930057749E07438862
chr153005776130057938E07439134
chr153005820530058285E07439578
chr153005843630058673E07439809
chr153005879130058854E07440164
chr153005898630059030E07440359
chr153005934530059497E07440718
chr153005964130059940E07441014
chr153006000030060080E07441373
chr153006012530060175E07441498
chr153006029330060362E07441666
chr153006037730060521E07441750
chr153006460930064663E07445982
chr153006536730065514E07446740
chr153006614930066266E07447522
chr153006667730066811E07448050
chr153006715230067467E07448525
chr153006756430067671E07448937
chr153006770630067788E07449079
chr153006809830068167E07449471
chr153006825330068331E07449626
chr153006837930068429E07449752
chr152996872429968772E081-49855
chr152996884929969575E081-49052
chr152996964929969711E081-48916
chr153004863530049541E08130008









Mpgyi