Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_01742
Species: Homo sapiens
Position : chr7:156785000-156786000
Year: 2021
Title: Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia
Genome Build: hg38
Enhancer Type: Enhancer
Condition: Normal
Disease Name: --
PMID:  33863876
MONDO:
Tissue: Blood
Tissue Ontology ID: UBERON:0000178
Cell Source: Patient lymphoblastoid
CVCL ID:
Cell Type: lymphoblastoid cell
Cell Ontology ID: CL:0000945
Experiment Type: Chromatin interaction assay, TF binding assay
High Throughput Method: 4C-seq, ChIP-seq
Low Throughput Method: DNA FISH, ChIP-RT-qPCR
About Target Gene
Target gene : SHH
About TF
TF name : CTCF
About Regulatory State
Regulatory State : Active
Upstream Pathway Annotation of TF
GeneName Pathway Name Source Gene Number
CTCF Activation of anterior HOX genes in hindbrain development during early embryogenesis reactome 120
CTCF TGF_beta_Receptor netpath 220
Enhancer Associated Network
Overlapping Enhancers (hg38)
No overlapping enhancers found in hg38 at this locus.
Expression of Target Genes for the Enhancer