About Enhancer

Enhancer ID: E_02_175
Enhancer symbol: --
Species: Mouse
Position : chr7:129554284-129564284
Biosample name: Rat Chondrosarcoma Cells (RCS cells)
Experiment class : Low+High throughput
Enhancer type: Enhancer
Disease: Skeletal Diseases
DO: --
Mesh: --
Distance from TSS: Intron
Pubmed ID:  27881681
Enhancer experiment: Luciferase Reporter Assay,ChIP-seq
Enhancer experiment description: However, ChIP sequencing revealed that SOX9 does not strongly bind to intron 1, but rather it binds to intron 6 and a site 30 kb upstream of the transcription start site. Here, we aimed to determine the role of the novel SOX9-binding site in intron 6. We prepared reporter constructs that contain a Col2a1 promoter, intron 1 with or without intron 6, and the luciferase gene.

About Target gene

Target gene : Col2a1(ANFH,AOM,COL11A3,SEDC,STL1)
Strong evidence: CRISPR/Cas9
Less strong evidence: Luciferase Reporter Assay,ChIP-seq
Target gene experiment description: the ChIP-Seq data of SOX9 in the Col2a1 gene using rat chondrosarcoma cells (RCS cells)show that there is a strong SOX9-binding site in intron 6 and a weaker binding site in intron 1.Although the reporter constructs were not activated by SOX9 alone, the construct that contained both introns 1 and 6 was activated 5–10-fold by the SOX9/SOX5 or the SOX9/SOX6 combination in transient-transfection assays in 293T cells. This enhancement was also observed in rat chondrosarcoma cells that stably expressed the construct. CRISPR/Cas9-induced deletion of intron 6 in RCS cells revealed that a 10-bp region of intron 6 is necessary both for Col2a1 expression and SOX9 binding.

About TF

TF name : Sox9(CMD1,CMPD1,SRA1,SRXX2,SRXY10)
TF experiment: ChIP-seq,ChIP-qPCR,EMSA
TF experiment description: SOX9 bind to intron 6 and the binding of SOX5/SOX6 to intron 6 may facilitate the binding of SOX9 to the intron 1.To explore this possibility, we tested whether SOX9 and SOX5 bound to the SB2 fragment(600bp)shownabove or an even shorter fragment by means of an EMSA.

About Function

Enhancer function : --
Enhancer function experiment: --
Enhancer function
experiment description:
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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