Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_00563
Species: Homo sapiens
Position : chr4:8712912-8728565
Year: 2025
Title: Auricular malformations are driven by copy number variations in a hierarchical enhancer cluster and a dominant enhancer recapitulates human pathogenesis
Genome Build: hg19
Enhancer Type: Enhancer
Condition: Disease
Disease Name: chronic myeloid leukemia
PMID:  40382324
MONDO: MONDO:0011998
Tissue: Blood
Tissue Ontology ID: UBERON:0000178
Cell Source: K562
CVCL ID: CVCL_0004
Cell Type: chronic myeloid leukemia cell
Cell Ontology ID: CL:0001054
Experiment Type: Enhancer activity assay, Chromatin interaction assay
High Throughput Method: ChIP-seq, ATAC-seq, Hi-C
Low Throughput Method: Transgenic Reporter Assay
About Target Gene
Target gene : HMX1
About TF
TF name :
About Regulatory State
Regulatory State : Active
Upstream Pathway Annotation of TF
GeneName Pathway Name Source Gene Number
Enhancer Associated Network
Overlapping Enhancers (hg19)
No overlapping enhancers found in hg19 at this locus.
Expression of Target Genes for the Enhancer