About Enhancer
| Enhancer ID: | E_00226 |
| Species: | Homo sapiens |
| Position : | chr2:60722238-60722466   |
| 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: | beta-thalassemia |
| PMID: | 24115442 |
| MONDO: | MONDO:0019402 |
| 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 +58 enhancer〞TF occupancy and enhancer-promoter looping evidence |
| 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)
50 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_00417 | chr2:60718043-60725451 | bone marrow | erythroid progenitor cell | NA |
| E_00133 | chr2:60722238-60722466 | bone marrow | erythroid progenitor cell | NA |
| E_00134 | chr2:60722238-60722466 | bone marrow | erythroid progenitor cell | NA |
| E_00138 | chr2:60722238-60722466 | blood | erythroid progenitor cell | NA |
| E_00139 | chr2:60722238-60722466 | blood | erythroblast | NA |
| E_00140 | chr2:60722238-60722466 | blood | erythroid progenitor cell | NA |
| E_00141 | chr2:60722238-60722466 | blood | erythroblast | NA |
| E_00221 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00222 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00223 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00224 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00225 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00227 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00228 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00229 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00230 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00285 | chr2:60722238-60722466 | bone marrow | erythroid progenitor cell | NA |
| E_00286 | chr2:60722238-60722466 | bone marrow | erythroid progenitor cell | NA |
| E_00287 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00288 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00289 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00290 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00291 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00292 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00293 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00294 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00295 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00296 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00297 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00298 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00299 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00300 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00301 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00302 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00303 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00304 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00305 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00306 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_01842 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_01843 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_01848 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_01849 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_01857 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_01858 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_01863 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_01864 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_01865 | chr2:60722238-60722466 | bone marrow | erythroid progenitor cell | sickle cell disease |
| E_01866 | chr2:60722238-60722466 | bone marrow | erythroid progenitor cell | beta-thalassemia |
| E_04242 | chr2:60722238-60722466 | blood | hematopoietic stem/progenitor cell | beta-thalassemia |
| E_01805 | chr2:60722300-60722700 | hematopoietic system | erythroid progenitor cell | NA |
Expression of Target Genes for the Enhancer