About Enhancer
| Enhancer ID: | E_00853 |
| 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: | Disease |
| Disease Name: | osteoporosis |
| PMID: | 29528523 |
| MONDO: | MONDO:0005298 |
| Tissue: | blood |
| Tissue Ontology ID: | UBERON:0000178 |
| Cell Source: | GM12878 |
| CVCL ID: | CVCL_7526 |
| Cell Type: | B-lymphoblastoid cell |
| Experiment Type: | GWAS/eQTL integration; enhancer activity; chromatin interaction; endogenous perturbation |
| High Throughput Method: | GWAS/eQTL; Hi-C; epigenomic annotation; RNA-seq/ChIP-seq integration; eQTL analysis |
| Low Throughput Method: | Dual-luciferase reporter assay; CRISPR-Cas9 deletion of rs9533090 region; ChIP-qPCR; qRT-PCR; protein analysis; CRISPR-Cas9; Luciferase reporter assay |
About Target Gene
| Target gene : | TNFSF11 |
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_00871 | chr13:42939000-42967000 | bone marrow | hematopoietic stem/progenitor cell | osteoporosis |
| E_00872 | chr13:42939000-42967000 | blood | B-lymphoblastoid cell | osteoporosis |
| E_00873 | chr13:42939000-42967000 | bone | osteosarcoma-derived osteoblast-like cell | osteoporosis |
| E_00858 | chr13:42940000-42940969 | bone | osteosarcoma-derived osteoblast-like cell | osteoporosis |
Expression of Target Genes for the Enhancer