About Enhancer
| Enhancer ID: | E_00241 |
| Species: | Homo sapiens |
| Position : | chr2:60718042-60718186   |
| Year: | 2013 |
| Title: | An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | sickle cell disease |
| PMID: | 24115442 |
| MONDO: | MONDO:0011382 |
| Tissue: | bone marrow / erythroid compartment |
| Tissue Ontology ID: | UBERON:0002371 |
| Cell Source: | Primary human erythroid precursors/erythroblasts |
| Cell Type: | erythroid progenitor cell |
| Cell Ontology ID: | CL:0000038 |
| Experiment Type: | Constituent +55 enhancer〞GWAS fine-mapping evidence record |
| High Throughput Method: | GWAS fine-mapping; DNase-seq; GATA1/TAL1 ChIP-seq; erythroid chromatin-state profiling |
| Low Throughput Method: | ChIP-qPCR; allele-specific ChIP/pyrosequencing; 3C; transgenic lacZ enhancer reporter; orthologous endogenous enhancer deletion; RT-qPCR; immunoblot |
About Target Gene
| Target gene : | BCL11A |
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)
32 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_00132 | chr2:60718042-60718186 | bone marrow | erythroid progenitor cell | NA |
| E_00136 | chr2:60718042-60718186 | bone marrow | erythroid progenitor cell | NA |
| E_00142 | chr2:60718042-60718186 | blood | erythroid progenitor cell | NA |
| E_00143 | chr2:60718042-60718186 | blood | erythroblast | NA |
| E_00144 | chr2:60718042-60718186 | blood | erythroid progenitor cell | NA |
| E_00145 | chr2:60718042-60718186 | blood | erythroblast | NA |
| E_00239 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00240 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00242 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00243 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00244 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00245 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00246 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00283 | chr2:60718042-60718186 | bone marrow | erythroid progenitor cell | NA |
| E_00284 | chr2:60718042-60718186 | bone marrow | erythroid progenitor cell | NA |
| E_00323 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00324 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00325 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00326 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00327 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00328 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00329 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00330 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00331 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00332 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00333 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00334 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00335 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00336 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00337 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00338 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00417 | chr2:60718043-60725451 | bone marrow | erythroid progenitor cell | NA |
Expression of Target Genes for the Enhancer