About Enhancer
| Enhancer ID: | E_02_0157 |
| Species: | human |
| Position : | chr3:38545360-38547360   |
| Biosample name: | |
| Experiment class : | High+Lowthroughput |
| Enhancer type: | Enhancer |
| Disease: | Arrhythmia |
| Pubmed ID: | 31666509 |
| Enhancer experiment: | Flow cytometry,PCR |
| Enhancer experiment description: | Mutations and variations in and around SCN5A, encoding the major cardiac sodium channel, influence impulse conduction and are associated with a broad spectrum of arrhythmia dis_x0002_orders. |
About Target gene
| Target gene : | SCN5A(Nav1.5,Nav1.5c,SkM1,SkM2,mH1),SCN10A |
| Strong evidence: | qRT-PCR,qPCR,ChIP,3C |
| Less strong evidence: | RNA-Seq |
| Target gene experiment description: | Mutations and variations in and around SCN5A, encoding the major cardiac sodium channel, influence impulse conduction and are associated with a broad spectrum of arrhythmia dis_x0002_orders.;The activity of REs is largely limited to target genes that fall within the same TAD8, including SCN5A, SCN10A, EXOG, SCN11A, and WDR48. |
About TF
| TF name : | -- |
| TF experiment: | Flow cytometry,PCR |
| TF experiment description: | Mutations and variations in and around SCN5A, encoding the major cardiac sodium channel, influence impulse conduction and are associated with a broad spectrum of arrhythmia dis_x0002_orders.;The activity of REs is largely limited to target genes that fall within the same TAD8, including SCN5A, SCN10A, EXOG, SCN11A, and WDR48. |
About Function
| Enhancer function : | Mutations and variations in and around SCN5A, encoding the major cardiac sodium channel, influence impulse conduction and are associated with a broad spectrum of arrhythmia dis_x0002_orders. |
| Enhancer function experiment: | Immunohistochemical staining |
| Enhancer function experiment description: |
Mutations and variations in and around SCN5A, encoding the major cardiac sodium channel, influence impulse conduction and are associated with a broad spectrum of arrhythmia dis_x0002_orders. |
About SNP
| SNP ID: | rs6810361 |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer associated network
The number on yellow line represents the distance between enhancer and
target gene