Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_01568 |
| Species: | Homo sapiens |
| Position : | chr12:48368875-48369590 |
| Year: | 2014 |
| Title: | Up-regulation of type II collagen gene by 17汕-estradiol in articular chondrocytes involves Sp1/3, Sox-9, and estrogen receptor 汐. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | osteoarthritis |
| PMID: | 25081415 |
| MONDO: | MONDO:0005178 |
| Tissue: | cartilage tissue |
| Tissue Ontology ID: | UBERON:0002418 |
| Cell Source: | dedifferentiated OA-phenotype human articular chondrocytes |
| Cell Type: | chondrocyte |
| Cell Ontology ID: | CL:0000138 |
| Experiment Type: | Hormone-responsive enhancer/TF-complex activity assay; TF binding assay; In vivo functional validation |
| Low Throughput Method: | 17汕-estradiol stimulation; ChIP/Re-ChIP; TF siRNA; DNA-binding assay; reporter assay; RT-qPCR; Western blot; ChIP; siRNA knockdown; In vivo phenotyping |
| Target gene : | COL2A1 |
| TF name : | SP1 |
| Regulatory State : | Active |
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| SP1 | Activation of gene expression by SREBF (SREBP) | reactome | 42 |
| SP1 | AndrogenReceptor | netpath | 167 |
| SP1 | AP-1 transcription factor network | pid | 71 |
| SP1 | C-MYB transcription factor network | pid | 87 |
| SP1 | Direct p53 effectors | pid | 141 |
| SP1 | E2F transcription factor network | pid | 77 |
| SP1 | EGFR1 | netpath | 475 |
| SP1 | FOXA1 transcription factor network | pid | 45 |
| SP1 | FOXA2 and FOXA3 transcription factor networks | pid | 45 |
| SP1 | FOXM1 transcription factor network | pid | 43 |
| SP1 | HIF-1-alpha transcription factor network | pid | 67 |
| SP1 | HIF-2-alpha transcription factor network | pid | 34 |
| SP1 | Huntington disease | panther | 113 |
| SP1 | IL2 signaling events mediated by STAT5 | pid | 30 |
| SP1 | IL4-mediated signaling events | pid | 66 |
| SP1 | Leptin | netpath | 98 |
| SP1 | Oncogene Induced Senescence | reactome | 30 |
| SP1 | p73 transcription factor network | pid | 80 |
| SP1 | PPARA activates gene expression | reactome | 113 |
| SP1 | Regulation of nuclear SMAD2/3 signaling | pid | 82 |
| SP1 | Regulation of Telomerase | pid | 70 |
| SP1 | RNA polymerase II transcribes snRNA genes | reactome | 70 |
| SP1 | SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription | reactome | 32 |
| SP1 | TGF_beta_Receptor | netpath | 220 |
| SP1 | Validated targets of C-MYC transcriptional repression | pid | 63 |
| SP1 | Validated transcriptional targets of AP1 family members Fra1 and Fra2 | pid | 37 |
| SP1 | Validated transcriptional targets of TAp63 isoforms | pid | 54 |
| SP1 | TGF-beta signaling pathway | kegg | 82 |
| SP1 | Huntington's disease | kegg | 182 |
| SP1 | Hs_Corticotropin-releasing_hormone_signaling_pathway_WP2355_90017 | wikipathways | 41 |
| SP1 | Hs_Leptin_signaling_pathway_WP2034_89856 | wikipathways | 37 |
| SP1 | Hs_Interleukin-11_Signaling_Pathway_WP2332_79525 | wikipathways | 17 |
| SP1 | Hs_Integrated_Breast_Cancer_Pathway_WP1984_82941 | wikipathways | 122 |
| SP1 | Hs_Estrogen_signaling_pathway_WP712_78491 | wikipathways | 13 |
| SP1 | Hs_Sudden_Infant_Death_Syndrome_(SIDS)_Susceptibility_Pathways_WP706_86078 | wikipathways | 33 |
| SP1 | Hs_TGF-beta_Signaling_Pathway_WP366_90028 | wikipathways | 67 |
| SP1 | Hs_AGE-RAGE_pathway_WP2324_89798 | wikipathways | 27 |
| SP1 | Hs_Androgen_receptor_signaling_pathway_WP138_79958 | wikipathways | 27 |
| SP1 | Hs_EGF-EGFR_Signaling_Pathway_WP437_79266 | wikipathways | 107 |
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_01553 | chr12:48368875-48369590 | cartilage tissue | chondrocyte | NA |
| E_01554 | chr12:48368875-48369590 | cartilage tissue | chondrocyte | NA |
| E_01555 | chr12:48368875-48369590 | cartilage tissue | chondrocyte | NA |
| E_01556 | chr12:48368875-48369590 | cartilage tissue | chondrocyte | NA |
| E_01566 | chr12:48368875-48369590 | cartilage tissue | chondrocyte | osteoarthritis |
| E_01567 | chr12:48368875-48369590 | cartilage tissue | chondrocyte | osteoarthritis |
| E_01569 | chr12:48368875-48369590 | cartilage tissue | chondrocyte | osteoarthritis |
| E_01585 | chr12:48368875-48369590 | breast | NA | osteoarthritis |
| E_01586 | chr12:48368875-48369590 | breast | NA | osteoarthritis |
| E_01587 | chr12:48368875-48369590 | breast | NA | osteoarthritis |
| E_01588 | chr12:48368875-48369590 | breast | NA | osteoarthritis |
| E_05292 | chr12:48368959-48369159 | NA | malignant cell | NA |
| E_05293 | chr12:48368959-48369159 | NA | malignant cell | NA |
| E_05298 | chr12:48368959-48369159 | NA | NA | NA |
| E_05299 | chr12:48368959-48369159 | NA | NA | NA |
| E_04571 | chr12:48369059-48369213 | NA | NA | NA |
| E_04574 | chr12:48369059-48369213 | cartilage tissue | chondrocyte | NA |