About Enhancer
| Enhancer ID: | E_00469 |
| Species: | Homo sapiens |
| Position : | chr13:42940000-42940969   |
| Year: | 2018 |
| Title: | Multiple functional variants at 13q14 risk locus for osteoporosis regulate RANKL expression through long-range super-enhancer |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Normal |
| Disease Name: | -- |
| PMID: | 29528523 |
| MONDO: | |
| Tissue: | Blood |
| Tissue Ontology ID: | UBERON:0000178 |
| Cell Source: | GM12878 |
| CVCL ID: | CVCL_7526 |
| Cell Type: | B lymphoblastoid cell |
| Cell Ontology ID: | CL:0000945 |
| Experiment Type: | Enhancer activity assay, TF binding assay, Chromatin interaction assay, Functional perturbation assay |
| High Throughput Method: | Hi-C, ChIP-seq, RNA-seq |
| Low Throughput Method: | qRT-PCR, and ChIP-qPCR |
About Target Gene
| Target gene : | RANKL |
About TF
| TF name : | NFIC |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| NFIC | FOXA1 transcription factor network | pid | 45 |
| NFIC | p75(NTR)-mediated signaling | pid | 74 |
| NFIC | RNA Polymerase III Abortive And Retractive Initiation | reactome | 41 |
| NFIC | RNA Polymerase III Transcription Termination | reactome | 23 |
Enhancer Associated Network
Overlapping Enhancers (hg19)
4 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_00465 | chr13:42939000-42967000 | Blood | B lymphoblastoid cell | -- |
| E_00466 | chr13:42939000-42967000 | Bone Marrow | CD34-positive hematopoietic stem cell | -- |
| E_00467 | chr13:42939000-42967000 | Bone | osteosarcoma cell | osteosarcoma |
| E_00468 | chr13:42940000-42940969 | Bone | osteosarcoma cell | osteosarcoma |
Expression of Target Genes for the Enhancer