About Enhancer
| Enhancer ID: | E_00147 |
| Species: | Homo sapiens |
| Position : | chr2:60725424-60725688   |
| Year: | 2013 |
| Title: | An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Normal |
| PMID: | 24115442 |
| Tissue: | blood |
| Tissue Ontology ID: | UBERON:0000178 |
| Cell Source: | Primary human erythroblasts |
| Cell Type: | erythroblast |
| Cell Ontology ID: | CL:0000765 |
| Experiment Type: | Lineage-specific enhancer characterization; endogenous functional validation |
| High Throughput Method: | GWAS fine-mapping; DNase-seq; H3K4me1/H3K27ac ChIP-seq; GATA1/TAL1 ChIP-seq; CRISPR-Cas9 saturating mutagenesis in follow-up PMID 26375006 |
| Low Throughput Method: | ChIP-qPCR; allele-specific ChIP/pyrosequencing; 3C; transgenic enhancer reporter assay; genome engineering; RT-qPCR |
About Target Gene
| Target gene : | BCL11A |
About TF
| TF name : | GATA1 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| GATA1 | C-MYB transcription factor network | pid | 87 |
| GATA1 | Factors involved in megakaryocyte development and platelet production | reactome | 111 |
| GATA1 | IL3 | netpath | 84 |
| GATA1 | Notch-mediated HES/HEY network | pid | 48 |
| GATA1 | p73 transcription factor network | pid | 80 |
| GATA1 | Signaling events mediated by HDAC Class I | pid | 89 |
| GATA1 | Signaling events mediated by HDAC Class II | pid | 58 |
Enhancer Associated Network
Overlapping Enhancers (hg19)
42 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_00417 | chr2:60718043-60725451 | bone marrow | erythroid progenitor cell | NA |
| E_00135 | chr2:60725424-60725688 | bone marrow | erythroid progenitor cell | NA |
| E_00137 | chr2:60725424-60725688 | bone marrow | erythroid progenitor cell | NA |
| E_00146 | chr2:60725424-60725688 | blood | erythroid progenitor cell | NA |
| E_00148 | chr2:60725424-60725688 | blood | erythroid progenitor cell | NA |
| E_00149 | chr2:60725424-60725688 | blood | erythroblast | NA |
| E_00231 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00232 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00233 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00234 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00235 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00236 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00237 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00238 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00307 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00308 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00309 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00310 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00311 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00312 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00313 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00314 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00315 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00316 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00317 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00318 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00319 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00320 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00321 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00322 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_01844 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_01845 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_01846 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_01847 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_01859 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_01860 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_01861 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_01862 | chr2:60725424-60725688 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_01867 | chr2:60725424-60725688 | bone marrow | erythroid progenitor cell | sickle cell disease |
| E_01868 | chr2:60725424-60725688 | bone marrow | erythroid progenitor cell | beta-thalassemia |
| E_01869 | chr2:60725424-60725688 | bone marrow | erythroid progenitor cell | sickle cell disease |
| E_01870 | chr2:60725424-60725688 | bone marrow | erythroid progenitor cell | beta-thalassemia |
Expression of Target Genes for the Enhancer