GWAS Annotated: RYR2

Gene: ryanodine receptor 2

GeneGHIDGWAS HitLead SNP-log10PTypeScoreEliteAssociation EvidenceLocationExternal LinksTFBSs
RYR2GH01J236997-1:236998863:T:C0.4600Enhancer293EliteC-HiCchr1:236997311-237000217ENSR1_88Z5NM, ENSR1_7HX9DH
EP300CTCFPOLR2ACTCFSMARCA4
RYR2GH01J237001-1:237001777:A:G0.4076Enhancer36-C-HiCchr1:237001090-237002885-
MNTSMARCA4
RYR2GH01J237011-1:237011899:C:T1.1530Enhancer408EliteC-HiC,Distancechr1:237011217-237013545ENSR1_95H427
EP300POLR2AATF2L3MBTL2POLR2AEP300NRF1TRIM28FOXK2EP400PRDM10STAT3FOXA2HNF4APKNOX1MEIS2HDAC1ARID1BFOXA1MTA2PHF21ASOX6ZNF263IKZF1KDM1AATF7ZEB2SMARCA4C11orf30FOSATF3SMARCE1MITFZNF316RNF2DPF2JUNNFICNFE2ZNF24JUNDRFX1ESR1MYCNR3C1CEBPB
RYR2GH01J237016-1:237016915:C:T0.9480Enhancer1-C-HiC,Distancechr1:237016240-237017700-
ASH2LCTCF
RYR2GH01J237026-1:237028272:T:C0.5557Enhancer1-Distancechr1:237026654-237028279--
RYR2GH01J237029-1:237032219:C:T0.8783Enhancer282EliteeQTLs,Distancechr1:237029166-237032750ENSR1_B3Q34S
USF1ATF7ATF2CREB1JUNDEP300FOSGABPASP1FOSL2RUNX3JUNDFOSCTCF
RYR2GH01J237037-None0.0000Enhancer56-Distancechr1:237037753-237038496-
CREB1
RYR2GH01J237042-None0.0000Promoter/Enhancer502EliteDistancechr1:237041999-237042401ENSR1_95H4BJ, ENSR1_CTJ47, RYR2_1
EZH2KDM4ACTCFMYCHNRNPLLRAD21ZEB1SMC3YY1ZNF263EP300TCF12EGR1ZNF143SMARCA4SP1SIN3ATBPTAF7POLR2ATAF1JUNDPHF8ZNF263FOXM1LEF1ARNTSUZ12EP300EZH2YY1RAD21
RYR2GH01J237043-None0.0000Enhancer265EliteeRNA_co-expression,Distancechr1:237043284-237043704ENSR1_CTJ47
SIN3AZNF263SUZ12EZH2KDM4ARNF2POLR2ASMC3MXI1EP300RAD21
RYR2GH01J237045-1:237047389:CT:C1.0872Enhancer117-eQTLs,Distancechr1:237045901-237050750-
CTCFEZH2L3MBTL2MNT
RYR2GH01J237051-1:237051347:G:A0.5222Enhancer56-Distancechr1:237051252-237052707-
PCBP1PCBP2HNRNPK
RYR2GH01J237052-1:237053600:C:T0.2352Enhancer56-Distancechr1:237052817-237054301-
PKNOX1PCBP1HNRNPKGATA3
RYR2GH01J237054-1:237054390:G:A2.4204Enhancer71-Distancechr1:237054334-237056325-
PCBP1HNRNPKGATA3ZNF263NFXL1
RYR2GH01J237056-1:237056997:T:C0.5335Enhancer36-Distancechr1:237056683-237057950-
ZNF263
RYR2GH01J237058-1:237059438:T:G0.0067Enhancer1-Distancechr1:237058929-237059540--
RYR2GH01J237069-1:237070197:G:A1.1208Enhancer111-Distancechr1:237069948-237075380ENSR1_88Z7CF
CEBPBATF2ATF7CEBPBTAF7FOSATF3JUND
RYR2GH01J237082-1:237082962:C:T0.9039Enhancer1-C-HiC,Distancechr1:237082776-237085047-
EZH2ZNF263
RYR2GH01J237085-1:237086787:G:T1.1168Enhancer36-Distancechr1:237085236-237087485--
RYR2GH01J237087-1:237087921:A:G0.0495Enhancer1-Distancechr1:237087875-237088611--
RYR2GH01J237090-None0.0000Enhancer1-Distancechr1:237090033-237090849-
MNT
RYR2GH01J237091-1:237091650:T:C0.5632Enhancer1-Distancechr1:237090994-237092665-
MNT
RYR2GH01J237092-1:237094589:T:A1.3600Enhancer82-Distancechr1:237092686-237097113-
EGR1ATF2ATF7ATF4ZFXPOLR2ARESTEP300
RYR2GH01J237098-1:237098895:A:G0.4427Enhancer117-Distancechr1:237098451-237099379-
ATF3MEIS2CREB1FOSFOXA2EP300JUND
RYR2GH01J237099-1:237102221:A:C0.9906Enhancer36-Distancechr1:237099405-237102717--
RYR2GH01J237102-1:237106523:G:A0.8848Enhancer99-Distancechr1:237102791-237107265-
MAFKMAFFZNF316MITF
RYR2GH01J237107-1:237107991:T:C1.2373Enhancer1-Distancechr1:237107443-237109081-
SMARCA4SMARCA4
RYR2GH01J237109-1:237109736:T:A0.7658Enhancer36-eQTLs,C-HiC,Distancechr1:237109322-237110359-
MAFKMAFF
RYR2GH01J237110-1:237112321:T:C0.6552Enhancer56-eQTLs,C-HiC,Distancechr1:237110433-237112322-
ZNF384CTCFRAD21
RYR2GH01J237112-1:237112768:T:C0.5615Enhancer1-eQTLs,C-HiC,Distancechr1:237112750-237113260-
EP300
RYR2GH01J237113-1:237114182:A:G0.6735Enhancer1-C-HiC,Distancechr1:237113345-237114382--
RYR2GH01J237114-1:237115740:T:C0.7907Enhancer99-eQTLs,C-HiC,Distancechr1:237114499-237115819ENSR1_95H54P
IRF1
RYR2GH01J237116-1:237116703:G:T1.6501Enhancer56-Distancechr1:237116063-237117496-
CTCFRAD21
RYR2GH01J237118-1:237119671:T:C0.3909Enhancer56-Distancechr1:237118984-237120105-
EP300ATF2
RYR2GH01J237120-1:237121093:T:G0.8599Enhancer36-Distancechr1:237120482-237122047--
RYR2GH01J237123-1:237125525:A:G0.5457Enhancer121-Distancechr1:237123782-237125562ENSR1_88Z8F6, ENSR1_543QWB7
ATF4NFICNFIBFOSCTCFXRCC5RAD21MYCTRIM22RESTMAXMNTUSF1ZNF143SMC3
RYR2GH01J237126-1:237126771:T:A1.6130Enhancer36-Distancechr1:237126200-237126781--
RYR2GH01J237128-1:237128672:G:A0.2489Enhancer1-Distancechr1:237128264-237128967--
RYR2GH01J237130-None0.0000Enhancer56-Distancechr1:237130821-237131353-
TRIM28AFF1
RYR2GH01J237131-1:237133500:G:A0.8380Enhancer56-Distancechr1:237131677-237134563-
TRIM28AFF1FOSATF2FOS
RYR2GH01J237134-1:237135176:T:G0.2512Enhancer1-Distancechr1:237134591-237135256--
RYR2GH01J237135-1:237136484:C:T0.4388Enhancer1-Distancechr1:237135739-237136872--
RYR2GH01J237137-None0.0000Enhancer1-Distancechr1:237137038-237137681-
EZH2
RYR2GH01J237139-1:237139913:G:A0.1164Enhancer1-Distancechr1:237139469-237140218-
TBX21
RYR2GH01J237141-1:237141512:G:A0.0476Enhancer1-Distancechr1:237141212-237144024ENSR1_95H5DD
EP300
RYR2GH01J237146-None0.0000Enhancer98EliteDistancechr1:237146082-237146544ENSR1_B3Q3PD
EP300
RYR2GH01J237147-1:237148240:G:C0.3056Enhancer1-Distancechr1:237147486-237148518--
RYR2GH01J237149-1:237150422:A:G0.1719Enhancer1-Distancechr1:237149797-237150869-
NFIC
RYR2GH01J237151-None0.0000Enhancer1-C-HiC,Distancechr1:237151049-237151704-
CREB1
RYR2GH01J237152-1:237153652:C:CT0.2232Enhancer181-C-HiC,Distancechr1:237152805-237153652-
PKNOX1ATF4FOS
RYR2GH01J237153-1:237155268:C:T0.0917Enhancer117-C-HiC,Distancechr1:237153833-237155299ENSR1_95H5J3
CTCFMYCSTAT3FOSCEBPBPKNOX1
RYR2GH01J237155-1:237156220:A:G0.1596Enhancer36-Distancechr1:237155523-237156359-
FOXK2
RYR2GH01J237156-1:237156924:C:A0.0817Enhancer1-Distancechr1:237156493-237157103--
RYR2GH01J237158-1:237158669:G:A0.2710Enhancer111-Distancechr1:237158356-237159176-
POLR2AZNF24MYCPKNOX1STAT3EP300FOS
RYR2GH01J237163-1:237163853:A:T0.5153Enhancer1-Distancechr1:237163381-237164938-
HNRNPK
RYR2GH01J237165-None0.0000Enhancer99-Distancechr1:237165535-237166472-
CREB1ATF2ATF7
RYR2GH01J237167-1:237167842:C:T0.3019Enhancer36-Distancechr1:237167830-237168611-
PKNOX1
RYR2GH01J237169-1:237170216:A:G0.8310Enhancer1-Distancechr1:237169990-237170660--
RYR2GH01J237173-1:237173475:G:T0.3306Enhancer1-Distancechr1:237173127-237173868--
RYR2GH01J237179-1:237180007:G:A0.2267Enhancer1-Distancechr1:237179366-237180584--
RYR2GH01J237180-1:237182021:C:T0.3461Enhancer111-Distancechr1:237180899-237182172ENSR1_88Z9M3
CREB1GATA2STAT3FOS
RYR2GH01J237182-1:237183408:C:G0.7560Enhancer121-Distancechr1:237182267-237184463ENSR1_88Z9NC
ATF7CREB1ATF2ATF2MAFKC11orf30ZNF316MAFF
RYR2GH01J237185-1:237187433:G:A1.0659Enhancer1-Distancechr1:237185392-237187500--
RYR2GH01J237187-1:237188054:C:T0.6790Enhancer36-Distancechr1:237187555-237188650--
RYR2GH01J237194-1:237194427:C:T0.8806Enhancer36-Distancechr1:237194036-237195091--
RYR2GH01J237197-1:237198228:C:T0.2325Enhancer140-Distancechr1:237197474-237198323-
ATF2ATF7CTCFJUNDFOSRAD21JUNGATA2EP300
RYR2GH01J237198-1:237199450:G:A0.3336Enhancer1-Distancechr1:237198926-237199764-
IKZF1IKZF2FOS
RYR2GH01J237200-1:237200078:T:C0.7024Enhancer1-Distancechr1:237200005-237200475--
RYR2GH01J237201-1:237201355:T:C1.9135Enhancer36-Distancechr1:237201096-237202081-
MXI1GATA3RCOR1
RYR2GH01J237204-1:237205713:A:G1.2128Enhancer82-C-HiC,Distancechr1:237204209-237206467ENSR1_88ZB5X
CTCFSTAT3MYCCEBPBFOS
RYR2GH01J237210-1:237210712:C:T0.9012Enhancer56-C-HiC,Distancechr1:237210289-237211968-
ZFXPKNOX1MEIS2EP300
RYR2GH01J237214-1:237214511:G:A2.0798Enhancer1-Distancechr1:237214067-237214670--
RYR2GH01J237216-1:237217870:T:G0.9573Enhancer36-Distancechr1:237216712-237218022-
FOS
RYR2GH01J237218-1:237218493:A:C0.8781Enhancer1-Distancechr1:237218347-237219025--
RYR2GH01J237219-1:237219920:C:A1.1550Enhancer71-Distancechr1:237219156-237220916ENSR1_88ZBG3, ENSR1_95H686
EP300PKNOX1CTCFSMARCA4RAD21
RYR2GH01J237225-1:237226533:C:A0.4356Enhancer36-Distancechr1:237225951-237226775-
EP300
RYR2GH01J237228-1:237229122:AGCATC:A0.7809Enhancer71-Distancechr1:237228697-237230148-
GABPANR2C1GABPB1TRIP13
RYR2GH01J237230-1:237230784:A:G0.8927Enhancer1-Distancechr1:237230492-237231002--
RYR2GH01J237234-1:237234909:T:C0.5128Enhancer1-Distancechr1:237234823-237235736ENSR1_88ZBQZ
POLR2AEP300
RYR2GH01J237238-1:237238877:G:A0.8665Enhancer91-Distancechr1:237238830-237240219-
ASH2LPOLR2ATAF1TBPNANOGYY1MYCUSF1NANOG
RYR2GH01J237272-1:237272236:T:C0.6430Enhancer14-eRNA_co-expression,Distancechr1:237272166-237272495-
ZFX
RYR2GH01J237288-None0.0000Enhancer117-Distancechr1:237288020-237288150-
ETS1NANOGNFICNFIBLCORL
RYR2GH01J237314-1:237320716:C:T1.4115Enhancer111-Distancechr1:237314488-237328473-
FOSSMARCA4PKNOX1EP300TRIM28FOSSMARCA4SMARCA4SMARCA4SMARCA4GATA3RCOR1FOS
RYR2GH01J237338-1:237338558:T:G1.5243Enhancer56-Distancechr1:237338417-237342275-
FOSCREB1PKNOX1NANOG
RYR2GH01J237346-None0.0000Enhancer11-eRNA_co-expression,Distancechr1:237346364-237346577--
RYR2GH01J237471-None0.0000Enhancer149-Distancechr1:237471000-237471150ENSR1_95H8WN
CTBP1POLR2ARESTTBPL3MBTL2MYCFOXA1
RYR2GH01J237481-None0.0000Enhancer41-eRNA_co-expression,Distancechr1:237481806-237481991--
RYR2GH01J237603-1:237603140:C:A0.0602Enhancer1-Distancechr1:237603140-237603330ENSR1_95HBBW-
RYR2GH01J237670-None0.0000Enhancer87-Distancechr1:237670243-237670523-
FOS
RYR2GH01J237678-None0.0000Enhancer126-Distancechr1:237678140-237678290-
CTCFRAD21HNF4ASMC3RXRAATF3JUNDSTAT3FOS
RYR2GH01J237736-1:237737027:TTCTC:T0.1045Enhancer133EliteDistancechr1:237736587-237737370ENSR1_B3Q6TR, ENSR1_543WR7D
TRIM28TAF1CTCFSRFRAD21SMC3STAT3
RYR2GH01J237759-1:237760632:G:C0.8370Enhancer146-Distancechr1:237759480-237761600-
STAT3FOSMAFFMYCRXRAMAFFMAFKFOSSP1MYC
RYR2GH01J237775-1:237775206:T:C0.5109Enhancer6-Distancechr1:237775072-237775448--