Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_04425
Species: Homo sapiens
Position : chr11:5191975-5193451
Year: 2003
Title: Persistent gamma-globin expression in adult transgenic mice is mediated by HPFH-2, HPFH-3, and HPFH-6 breakpoint sequences.
Genome Build: hg19
Enhancer Type: Enhancer
Condition: Disease
Disease Name: hereditary persistence of fetal hemoglobin
PMID:  12855570
MONDO: MONDO:0020989
Tissue: blood
Tissue Ontology ID: UBERON:0000178
Cell Source: transgenic mouse erythroid cells
Cell Type: erythroid cell
Experiment Type: In vivo enhancer activity assay; disease breakpoint analysis
Low Throughput Method: Transgenic mouse reporter assay; Cre-mediated single-copy transgene conversion; fetal globin expression analysis
About Target Gene
Target gene : HBG2
About TF
TF name : NA
About Regulatory State
Regulatory State : Active
Upstream Pathway Annotation of TF
GeneName Pathway Name Source Gene Number
Enhancer Associated Network
Overlapping Enhancers (hg19) 2 found
Enhancer ID Position Tissue Cell Disease
E_04424 chr11:5191975-5193451 blood erythroid cell hereditary persistence of fetal hemoglobin
E_04437 chr11:5191975-5193451 blood erythroid cell hereditary persistence of fetal hemoglobin
Expression of Target Genes for the Enhancer