Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_00941
Species: Homo sapiens
Position : chr5:51773619-51857504
Year: 2014
Title: Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants.
Genome Build: hg19
Enhancer Type: Enhancer
Condition: Disease
Disease Name: Type 2 Diabetes Mellitus
PMID:  24413736
MONDO: MONDO:0005148
Tissue: pancreas
Tissue Ontology ID: UBERON:0001264
Cell Source: HEK-293,汕-Cell
CVCL ID: CVCL_0045
Cell Type: pancreatic beta cell
Cell Ontology ID: CL:0000169
Experiment Type: Enhancer activity assay; TF-binding/chromatin assay; Chromatin interaction assay; Genetic-variant functional analysis; In vivo functional validation; Disease-associated enhancer analysis
High Throughput Method: ChIP-seq; RNA-seq
Low Throughput Method: Luciferase reporter assay; Reporter assay; ChIP-qPCR/ChIP; EMSA/gel-shift assay; 4C
About Target Gene
Target gene : ISL1
About TF
TF name : MAFB
About Regulatory State
Regulatory State : Active
Upstream Pathway Annotation of TF
GeneName Pathway Name Source Gene Number
MAFB Activation of anterior HOX genes in hindbrain development during early embryogenesis reactome 120
MAFB Hs_Ectoderm_Differentiation_WP2858_89329 wikipathways 56
Enhancer Associated Network
Overlapping Enhancers (hg19) 2 found
Enhancer ID Position Tissue Cell Disease
E_00940 chr5:51773619-51857504 pancreas pancreatic beta cell Type 2 Diabetes Mellitus
E_00942 chr5:51773619-51857504 pancreas pancreatic beta cell Type 2 Diabetes Mellitus
Expression of Target Genes for the Enhancer