Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_00968
Species: Homo sapiens
Position : chr4:55575000-55577000
Year: 2018
Title: AML1/ETO trans-activates c-KIT expression through the long range interaction between promoter and intronic enhancer.
Genome Build: hg19
Enhancer Type: Enhancer
Condition: Disease
Disease Name: acute myeloid leukemia with t(8; 21)(q22; q22.1)
PMID:  29236325
MONDO: MONDO:0850492
Tissue: blood
Tissue Ontology ID: UBERON:0000178
Cell Source: Kasumi-1
CVCL ID: CVCL_0589
Cell Type: myeloblast
Cell Ontology ID: CL:0000835
Experiment Type: Enhancer activity assay; TF binding assay; Chromatin interaction assay; Functional perturbation assay
High Throughput Method: AML1/ETO and cofactor ChIP-seq data analysis; AML patient expression-cohort analysis; ChIP-seq; 3C
Low Throughput Method: Luciferase reporter assay; ChIP-qPCR; ChIP-3C-qPCR; AML1/ETO siRNA knockdown; RT-qPCR; Reporter assay; qPCR
About Target Gene
Target gene : KIT
About TF
TF name : RUNX1::RUNX1T1
About Regulatory State
Regulatory State : Active
Upstream Pathway Annotation of TF
GeneName Pathway Name Source Gene Number
Enhancer Associated Network
Overlapping Enhancers (hg19) 1 found
Enhancer ID Position Tissue Cell Disease
E_03312 chr4:55520000-55580000 digestive tract interstitial cell of Cajal lineage gastrointestinal stromal tumor
Expression of Target Genes for the Enhancer