About Enhancer
| Enhancer ID: | E_00467 |
| Species: | Homo sapiens |
| Position : | chr13:42939000-42967000   |
| 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: | Disease |
| Disease Name: | osteosarcoma |
| PMID: | 29528523 |
| MONDO: | MONDO:0005087 |
| Tissue: | Bone |
| Tissue Ontology ID: | UBERON:0001474 |
| Cell Source: | U2-OS osteosarcoma osteoblastic cells |
| CVCL ID: | CVCL_0042 |
| Cell Type: | osteosarcoma cell |
| Cell Ontology ID: | CL:0000082 |
| Experiment Type: | Enhancer activity 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 : |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer Associated Network
Overlapping Enhancers (hg19)
13 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_00468 | chr13:42940000-42940969 | Bone | osteosarcoma cell | osteosarcoma |
| E_00469 | chr13:42940000-42940969 | Blood | B lymphoblastoid cell | -- |
| E_00470 | chr13:42955000-42955967 | Bone | osteosarcoma cell | osteosarcoma |
| E_00471 | chr13:42955000-42955967 | Blood | B lymphoblastoid cell | -- |
| E_00472 | chr13:42955000-42955967 | Bone Marrow | CD34-positive hematopoietic stem cell | -- |
| E_00473 | chr13:42956000-42956832 | Bone | osteosarcoma cell | osteosarcoma |
| E_00474 | chr13:42956000-42956832 | Blood | B lymphoblastoid cell | -- |
| E_00475 | chr13:42956000-42956832 | Bone Marrow | CD34-positive hematopoietic stem cell | -- |
| E_00476 | chr13:42965000-42965891 | Bone | osteosarcoma cell | osteosarcoma |
| E_00477 | chr13:42965000-42965891 | Blood | B lymphoblastoid cell | -- |
| E_00478 | chr13:42965000-42965891 | Bone Marrow | CD34-positive hematopoietic stem cell | -- |
Expression of Target Genes for the Enhancer