Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_00475
Species: Homo sapiens
Position : chr13:42956000-42956832
Year: 2018
Title: Multiple functional variants at 13q14 risk locus for osteoporosis regulate RANKL expression through long-range super-enhancer
Genome Build: hg19
Enhancer Type: Enhancer
Condition: Normal
Disease Name: --
PMID:  29528523
MONDO:
Tissue: Bone Marrow
Tissue Ontology ID: UBERON:0002371
Cell Source: CD34+ hematopoietic stem cells
CVCL ID:
Cell Type: CD34-positive hematopoietic stem cell
Cell Ontology ID: CL:0001029
Experiment Type: Enhancer activity assay, Chromatin interaction assay
High Throughput Method: Hi-C, ChIP-seq, RNA-seq
Low Throughput Method: qRT-PCR, and ChIP-qPCR
About Target Gene
Target gene : RANKL
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) 5 found
Enhancer ID Position Tissue Cell Disease
E_00465 chr13:42939000-42967000 Blood B lymphoblastoid cell --
E_00466 chr13:42939000-42967000 Bone Marrow CD34-positive hematopoietic stem cell --
E_00467 chr13:42939000-42967000 Bone osteosarcoma cell osteosarcoma
E_00473 chr13:42956000-42956832 Bone osteosarcoma cell osteosarcoma
E_00474 chr13:42956000-42956832 Blood B lymphoblastoid cell --
Expression of Target Genes for the Enhancer