Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_01567
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
About Target Gene
Target gene : COL2A1
About TF
TF name : SOX9
About Regulatory State
Regulatory State : Active
Upstream Pathway Annotation of TF
GeneName Pathway Name Source Gene Number
SOX9 Deactivation of the beta-catenin transactivating complex reactome 42
SOX9 TGF_beta_Receptor netpath 220
SOX9 Hs_Neural_Crest_Differentiation_WP2064_79263 wikipathways 40
SOX9 Hs_Spinal_Cord_Injury_WP2431_87678 wikipathways 21
Enhancer Associated Network
Overlapping Enhancers (hg19) 17 found
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_01568 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
Expression of Target Genes for the Enhancer