About Enhancer
| Enhancer ID: | E_01034 |
| Species: | Homo sapiens |
| Position : | chr2:219988763-219991870   |
| Year: | 2023 |
| Title: | IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | lung squamous cell carcinoma |
| PMID: | 37580330 |
| MONDO: | MONDO:0005089 |
| Tissue: | Lung |
| Tissue Ontology ID: | UBERON:0002048 |
| Cell Source: | Primary human LUSC tumor cells |
| CVCL ID: | |
| Cell Type: | lung squamous cell carcinoma cell |
| Cell Ontology ID: | CL:0000066 |
| Experiment Type: | Enhancer activity assay |
| High Throughput Method: | ATAC-seq |
| Low Throughput Method: | Transgenic Reporter Assay, Sanger Sequencing |
About Target Gene
| Target gene : | IHH |
About TF
| TF name : |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer Associated Network
Overlapping Enhancers (hg19)
No overlapping enhancers found in hg19 at this locus.
Expression of Target Genes for the Enhancer