Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_01033
Species: Homo sapiens
Position : chr6:37883250-37883831
Year: 2014
Title: Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants.
Genome Build: hg18
Enhancer Type: Enhancer
Condition: Disease
Disease Name: type 2 diabetes mellitus
PMID:  24413736
MONDO: MONDO:0005148
Tissue: islet of Langerhans
Tissue Ontology ID: UBERON:0000006
Cell Source: primary human pancreatic islets
Experiment Type: Enhancer activity assay; TF binding assay; Allele-specific functional assay; Genetic risk-variant analysis; Disease-variant functional analysis
High Throughput Method: FOXA2 ChIP-seq; PDX1 ChIP-seq; NKX2-2 ChIP-seq; NKX6-1 ChIP-seq; MAFB ChIP-seq; H3K4me1 ChIP-seq; H3K27ac ChIP-seq; FAIRE-seq; RNA-seq
Low Throughput Method: EMSA; NEUROD1 antibody supershift; allele-specific luciferase reporter assay in MIN6 beta cells
About Target Gene
Target gene : ZFAND3
About TF
TF name : NEUROD1
About Regulatory State
Regulatory State : Active
Upstream Pathway Annotation of TF
GeneName Pathway Name Source Gene Number
NEUROD1 Regulation of gene expression in beta cells reactome 17
NEUROD1 Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells reactome 5
NEUROD1 Maturity onset diabetes of the young kegg 25
NEUROD1 Hs_Dopaminergic_Neurogenesis_WP2855_87239 wikipathways 19
Enhancer Associated Network
Overlapping Enhancers (hg18) 4 found
Enhancer ID Position Tissue Cell Disease
E_01032 chr6:37883250-37883831 islet of Langerhans NA type 2 diabetes mellitus
E_01034 chr6:37883250-37883831 islet of Langerhans NA type 2 diabetes mellitus
E_01035 chr6:37883250-37883831 islet of Langerhans NA type 2 diabetes mellitus
E_01036 chr6:37883250-37883831 islet of Langerhans NA type 2 diabetes mellitus
Expression of Target Genes for the Enhancer