About Enhancer
| Enhancer ID: | E_02714 |
| Species: | Homo sapiens |
| Position : | chr16:163380-163907   |
| Year: | 2017 |
| Title: | Editing an 汐-globin enhancer in primary human hematopoietic stem cells as a treatment for 汕-thalassemia. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | alpha thalassemia spectrum |
| PMID: | 28871148 |
| MONDO: | MONDO:0011399 |
| Tissue: | blood |
| Tissue Ontology ID: | UBERON:0000178 |
| Cell Source: | Primary human CD34+ HSPC-derived erythroid cells |
| Cell Type: | erythroid progenitor cell |
| Cell Ontology ID: | CL:0000038 |
| Experiment Type: | Enhancer activity assay; TF binding assay; Functional perturbation assay; Gene expression assay; Chromatin-state assay |
| High Throughput Method: | ChIP-seq |
| Low Throughput Method: | CRISPR-Cas9 MCS-R2 deletion; Sanger sequencing; droplet digital PCR; RT-qPCR; TAL1/SCL ChIP-qPCR; xenograft assay; CRISPR-Cas9 |
About Target Gene
| Target gene : | HBA2 |
About TF
| TF name : | TAL1 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer Associated Network
Overlapping Enhancers (hg19)
5 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_02424 | chr16:163380-163907 | pleural effusion | erythroid lineage cell | NA |
| E_02425 | chr16:163380-163907 | pleural effusion | erythroid lineage cell | NA |
| E_02713 | chr16:163380-163907 | blood | erythroid progenitor cell | alpha thalassemia spectrum |
| E_03501 | chr16:163406-163841 | blood | erythroblast | NA |
| E_03502 | chr16:163406-163841 | blood | erythroblast | NA |
Expression of Target Genes for the Enhancer