About Enhancer

Enhancer ID: E_01_135
Enhancer symbol: --
Species: Human
Position : chr12:48368959-48369159
Biosample name: HeLa,HEK-293
Experiment class : Low throughput
Enhancer type: Enhancer
Disease: --
DO: --
Mesh: --
Distance from TSS: Intron
Pubmed ID:  23873758
Enhancer experiment: PCR,ChIP
Enhancer experiment description: Real‐time PCR (qPCR) reactions for ChIP and ChIP reChIP were carried out using primers flanking the COL2A1 promoter start site(–167) to (–65), see illustration in Figure 6A. Additional analyses were performed on the Sox9‐binding enhancer region of COL2A1(þ2259) to (þ2430). As a negative control, a distal set of primers flanking the intron 38 (þ24148) to (þ24368) of the COL2A1 gene was used, based on the protocol by Furlan‐Magarill and colleagues.

About Target gene

Target gene : COL2A1(ANFH,AOM,COL11A3,SEDC,STL1)
Strong evidence: --
Less strong evidence: PCR,ChIP
Target gene experiment description: To understand the regulation of the active COL2A1 promoter, we performed ChIP assays using specific primers flanking the promoter start site and enhancer site within the first intron (illustrated in Fig. 6A). We found enhanced occupancy of the DNA‐binding transcription factor SP1 on the promoter start site of 3D cultured cells, whereas passaged cells (P5) showed a slight but insignificant reduction of SP1 (Fig. 6B). Additionally, passaging significantly decreased Sox9 occupancy on the enhancer site.

About TF

TF name : SP1(SP1)SOX9(CMD1,CMPD1,SRA1,SRXX2,SRXY10)
TF experiment: ChIP
TF experiment description: Chromatin immunoprecipitation (ChIP) analyses of 3D cultures showed augmented levels of the DNA‐binding transcription factor SP1, and the histone methyltransferase Set7/9, on the COL2A1 promoter site.

About Function

Enhancer function : Although Sox9 (SRY‐related high mobility group‐Box gene 9) has been shown to regulate the expression of the COL2A1 gene by binding the Enhancer within the first intron,numerous additional coactivators (eg, LSox5, Sox6, PGC1a, Notch) are involved in activa
Enhancer function experiment: PCR,ChIP
Enhancer function
experiment description:
3D cultures also exhibited augmented mRNA and protein levels of the transcription factors SP1 and Sox9 (Fig. 5A. B), which are known to regulate COL2A1 expression by binding the DNA-motifs of the promoter and Enhancer regions, respectively.

About SNP

SNP ID: --
SNP position: --
SNP experiment: --

Enhancer associated network

The number on yellow line represents the distance between enhancer and target gene

Expression of target genes for the enhancer


Enhancer associated SNPs