GWAS Annotated Elements: RYR2

Gene: ryanodine receptor 2

Significance Threshold: -log10(P) ≥ 6.0

GHID GWAS Hit Lead SNP -log10P Type Elite Association Location TFBSs
GH01J236997 - 1:236998863:T:C 0.4600 Enhancer Elite C-HiC chr1:236997311-237000217
EP300CTCFPOLR2ACTCFSMARCA4
GH01J237001 - 1:237001777:A:G 0.4076 Enhancer - C-HiC chr1:237001090-237002885
MNTSMARCA4
GH01J237011 - 1:237011899:C:T 1.1530 Enhancer Elite C-HiC,Distance chr1:237011217-237013545
EP300POLR2AATF2L3MBTL2POLR2AEP300NRF1TRIM28FOXK2EP400PRDM10STAT3FOXA2HNF4APKNOX1MEIS2HDAC1ARID1BFOXA1MTA2PHF21ASOX6ZNF263IKZF1KDM1AATF7ZEB2SMARCA4C11orf30FOSATF3SMARCE1MITFZNF316RNF2DPF2JUNNFICNFE2ZNF24JUNDRFX1ESR1MYCNR3C1CEBPB
GH01J237016 - 1:237016915:C:T 0.9480 Enhancer - C-HiC,Distance chr1:237016240-237017700
ASH2LCTCF
GH01J237026 - 1:237028272:T:C 0.5557 Enhancer - Distance chr1:237026654-237028279 -
GH01J237029 - 1:237032219:C:T 0.8783 Enhancer Elite eQTLs,Distance chr1:237029166-237032750
USF1ATF7ATF2CREB1JUNDEP300FOSGABPASP1FOSL2RUNX3JUNDFOSCTCF
GH01J237037 - None 0.0000 Enhancer - Distance chr1:237037753-237038496
CREB1
GH01J237042 - None 0.0000 Promoter/Enhancer Elite Distance chr1:237041999-237042401
EZH2KDM4ACTCFMYCHNRNPLLRAD21ZEB1SMC3YY1ZNF263EP300TCF12EGR1ZNF143SMARCA4SP1SIN3ATBPTAF7POLR2ATAF1JUNDPHF8ZNF263FOXM1LEF1ARNTSUZ12EP300EZH2YY1RAD21
GH01J237043 - None 0.0000 Enhancer Elite eRNA_co-expression,Distance chr1:237043284-237043704
SIN3AZNF263SUZ12EZH2KDM4ARNF2POLR2ASMC3MXI1EP300RAD21
GH01J237045 - 1:237047389:CT:C 1.0872 Enhancer - eQTLs,Distance chr1:237045901-237050750
CTCFEZH2L3MBTL2MNT
GH01J237051 - 1:237051347:G:A 0.5222 Enhancer - Distance chr1:237051252-237052707
PCBP1PCBP2HNRNPK
GH01J237052 - 1:237053600:C:T 0.2352 Enhancer - Distance chr1:237052817-237054301
PKNOX1PCBP1HNRNPKGATA3
GH01J237054 - 1:237054390:G:A 2.4204 Enhancer - Distance chr1:237054334-237056325
PCBP1HNRNPKGATA3ZNF263NFXL1
GH01J237056 - 1:237056997:T:C 0.5335 Enhancer - Distance chr1:237056683-237057950
ZNF263
GH01J237058 - 1:237059438:T:G 0.0067 Enhancer - Distance chr1:237058929-237059540 -
GH01J237069 - 1:237070197:G:A 1.1208 Enhancer - Distance chr1:237069948-237075380
CEBPBATF2ATF7CEBPBTAF7FOSATF3JUND
GH01J237082 - 1:237082962:C:T 0.9039 Enhancer - C-HiC,Distance chr1:237082776-237085047
EZH2ZNF263
GH01J237085 - 1:237086787:G:T 1.1168 Enhancer - Distance chr1:237085236-237087485 -
GH01J237087 - 1:237087921:A:G 0.0495 Enhancer - Distance chr1:237087875-237088611 -
GH01J237090 - None 0.0000 Enhancer - Distance chr1:237090033-237090849
MNT
GH01J237091 - 1:237091650:T:C 0.5632 Enhancer - Distance chr1:237090994-237092665
MNT
GH01J237092 - 1:237094589:T:A 1.3600 Enhancer - Distance chr1:237092686-237097113
EGR1ATF2ATF7ATF4ZFXPOLR2ARESTEP300
GH01J237098 - 1:237098895:A:G 0.4427 Enhancer - Distance chr1:237098451-237099379
ATF3MEIS2CREB1FOSFOXA2EP300JUND
GH01J237099 - 1:237102221:A:C 0.9906 Enhancer - Distance chr1:237099405-237102717 -
GH01J237102 - 1:237106523:G:A 0.8848 Enhancer - Distance chr1:237102791-237107265
MAFKMAFFZNF316MITF
GH01J237107 - 1:237107991:T:C 1.2373 Enhancer - Distance chr1:237107443-237109081
SMARCA4SMARCA4
GH01J237109 - 1:237109736:T:A 0.7658 Enhancer - eQTLs,C-HiC,Distance chr1:237109322-237110359
MAFKMAFF
GH01J237110 - 1:237112321:T:C 0.6552 Enhancer - eQTLs,C-HiC,Distance chr1:237110433-237112322
ZNF384CTCFRAD21
GH01J237112 - 1:237112768:T:C 0.5615 Enhancer - eQTLs,C-HiC,Distance chr1:237112750-237113260
EP300
GH01J237113 - 1:237114182:A:G 0.6735 Enhancer - C-HiC,Distance chr1:237113345-237114382 -
GH01J237114 - 1:237115740:T:C 0.7907 Enhancer - eQTLs,C-HiC,Distance chr1:237114499-237115819
IRF1
GH01J237116 - 1:237116703:G:T 1.6501 Enhancer - Distance chr1:237116063-237117496
CTCFRAD21
GH01J237118 - 1:237119671:T:C 0.3909 Enhancer - Distance chr1:237118984-237120105
EP300ATF2
GH01J237120 - 1:237121093:T:G 0.8599 Enhancer - Distance chr1:237120482-237122047 -
GH01J237123 - 1:237125525:A:G 0.5457 Enhancer - Distance chr1:237123782-237125562
ATF4NFICNFIBFOSCTCFXRCC5RAD21MYCTRIM22RESTMAXMNTUSF1ZNF143SMC3
GH01J237126 - 1:237126771:T:A 1.6130 Enhancer - Distance chr1:237126200-237126781 -
GH01J237128 - 1:237128672:G:A 0.2489 Enhancer - Distance chr1:237128264-237128967 -
GH01J237130 - None 0.0000 Enhancer - Distance chr1:237130821-237131353
TRIM28AFF1
GH01J237131 - 1:237133500:G:A 0.8380 Enhancer - Distance chr1:237131677-237134563
TRIM28AFF1FOSATF2FOS
GH01J237134 - 1:237135176:T:G 0.2512 Enhancer - Distance chr1:237134591-237135256 -
GH01J237135 - 1:237136484:C:T 0.4388 Enhancer - Distance chr1:237135739-237136872 -
GH01J237137 - None 0.0000 Enhancer - Distance chr1:237137038-237137681
EZH2
GH01J237139 - 1:237139913:G:A 0.1164 Enhancer - Distance chr1:237139469-237140218
TBX21
GH01J237141 - 1:237141512:G:A 0.0476 Enhancer - Distance chr1:237141212-237144024
EP300
GH01J237146 - None 0.0000 Enhancer Elite Distance chr1:237146082-237146544
EP300
GH01J237147 - 1:237148240:G:C 0.3056 Enhancer - Distance chr1:237147486-237148518 -
GH01J237149 - 1:237150422:A:G 0.1719 Enhancer - Distance chr1:237149797-237150869
NFIC
GH01J237151 - None 0.0000 Enhancer - C-HiC,Distance chr1:237151049-237151704
CREB1
GH01J237152 - 1:237153652:C:CT 0.2232 Enhancer - C-HiC,Distance chr1:237152805-237153652
PKNOX1ATF4FOS
GH01J237153 - 1:237155268:C:T 0.0917 Enhancer - C-HiC,Distance chr1:237153833-237155299
CTCFMYCSTAT3FOSCEBPBPKNOX1
GH01J237155 - 1:237156220:A:G 0.1596 Enhancer - Distance chr1:237155523-237156359
FOXK2
GH01J237156 - 1:237156924:C:A 0.0817 Enhancer - Distance chr1:237156493-237157103 -
GH01J237158 - 1:237158669:G:A 0.2710 Enhancer - Distance chr1:237158356-237159176
POLR2AZNF24MYCPKNOX1STAT3EP300FOS
GH01J237163 - 1:237163853:A:T 0.5153 Enhancer - Distance chr1:237163381-237164938
HNRNPK
GH01J237165 - None 0.0000 Enhancer - Distance chr1:237165535-237166472
CREB1ATF2ATF7
GH01J237167 - 1:237167842:C:T 0.3019 Enhancer - Distance chr1:237167830-237168611
PKNOX1
GH01J237169 - 1:237170216:A:G 0.8310 Enhancer - Distance chr1:237169990-237170660 -
GH01J237173 - 1:237173475:G:T 0.3306 Enhancer - Distance chr1:237173127-237173868 -
GH01J237179 - 1:237180007:G:A 0.2267 Enhancer - Distance chr1:237179366-237180584 -
GH01J237180 - 1:237182021:C:T 0.3461 Enhancer - Distance chr1:237180899-237182172
CREB1GATA2STAT3FOS
GH01J237182 - 1:237183408:C:G 0.7560 Enhancer - Distance chr1:237182267-237184463
ATF7CREB1ATF2ATF2MAFKC11orf30ZNF316MAFF
GH01J237185 - 1:237187433:G:A 1.0659 Enhancer - Distance chr1:237185392-237187500 -
GH01J237187 - 1:237188054:C:T 0.6790 Enhancer - Distance chr1:237187555-237188650 -
GH01J237194 - 1:237194427:C:T 0.8806 Enhancer - Distance chr1:237194036-237195091 -
GH01J237197 - 1:237198228:C:T 0.2325 Enhancer - Distance chr1:237197474-237198323
ATF2ATF7CTCFJUNDFOSRAD21JUNGATA2EP300
GH01J237198 - 1:237199450:G:A 0.3336 Enhancer - Distance chr1:237198926-237199764
IKZF1IKZF2FOS
GH01J237200 - 1:237200078:T:C 0.7024 Enhancer - Distance chr1:237200005-237200475 -
GH01J237201 - 1:237201355:T:C 1.9135 Enhancer - Distance chr1:237201096-237202081
MXI1GATA3RCOR1
GH01J237204 - 1:237205713:A:G 1.2128 Enhancer - C-HiC,Distance chr1:237204209-237206467
CTCFSTAT3MYCCEBPBFOS
GH01J237210 - 1:237210712:C:T 0.9012 Enhancer - C-HiC,Distance chr1:237210289-237211968
ZFXPKNOX1MEIS2EP300
GH01J237214 - 1:237214511:G:A 2.0798 Enhancer - Distance chr1:237214067-237214670 -
GH01J237216 - 1:237217870:T:G 0.9573 Enhancer - Distance chr1:237216712-237218022
FOS
GH01J237218 - 1:237218493:A:C 0.8781 Enhancer - Distance chr1:237218347-237219025 -
GH01J237219 - 1:237219920:C:A 1.1550 Enhancer - Distance chr1:237219156-237220916
EP300PKNOX1CTCFSMARCA4RAD21
GH01J237225 - 1:237226533:C:A 0.4356 Enhancer - Distance chr1:237225951-237226775
EP300
GH01J237228 - 1:237229122:AGCATC:A 0.7809 Enhancer - Distance chr1:237228697-237230148
GABPANR2C1GABPB1TRIP13
GH01J237230 - 1:237230784:A:G 0.8927 Enhancer - Distance chr1:237230492-237231002 -
GH01J237234 - 1:237234909:T:C 0.5128 Enhancer - Distance chr1:237234823-237235736
POLR2AEP300
GH01J237238 - 1:237238877:G:A 0.8665 Enhancer - Distance chr1:237238830-237240219
ASH2LPOLR2ATAF1TBPNANOGYY1MYCUSF1NANOG
GH01J237272 - 1:237272236:T:C 0.6430 Enhancer - eRNA_co-expression,Distance chr1:237272166-237272495
ZFX
GH01J237288 - None 0.0000 Enhancer - Distance chr1:237288020-237288150
ETS1NANOGNFICNFIBLCORL
GH01J237314 - 1:237320716:C:T 1.4115 Enhancer - Distance chr1:237314488-237328473
FOSSMARCA4PKNOX1EP300TRIM28FOSSMARCA4SMARCA4SMARCA4SMARCA4GATA3RCOR1FOS
GH01J237338 - 1:237338558:T:G 1.5243 Enhancer - Distance chr1:237338417-237342275
FOSCREB1PKNOX1NANOG
GH01J237346 - None 0.0000 Enhancer - eRNA_co-expression,Distance chr1:237346364-237346577 -
GH01J237471 - None 0.0000 Enhancer - Distance chr1:237471000-237471150
CTBP1POLR2ARESTTBPL3MBTL2MYCFOXA1
GH01J237481 - None 0.0000 Enhancer - eRNA_co-expression,Distance chr1:237481806-237481991 -
GH01J237603 - 1:237603140:C:A 0.0602 Enhancer - Distance chr1:237603140-237603330 -
GH01J237670 - None 0.0000 Enhancer - Distance chr1:237670243-237670523
FOS
GH01J237678 - None 0.0000 Enhancer - Distance chr1:237678140-237678290
CTCFRAD21HNF4ASMC3RXRAATF3JUNDSTAT3FOS
GH01J237736 - 1:237737027:TTCTC:T 0.1045 Enhancer Elite Distance chr1:237736587-237737370
TRIM28TAF1CTCFSRFRAD21SMC3STAT3
GH01J237759 - 1:237760632:G:C 0.8370 Enhancer - Distance chr1:237759480-237761600
STAT3FOSMAFFMYCRXRAMAFFMAFKFOSSP1MYC
GH01J237775 - 1:237775206:T:C 0.5109 Enhancer - Distance chr1:237775072-237775448 -