About Enhancer
| Enhancer ID: | E_01_012 | |
| Enhancer symbol: | -- | |
| Species: | Human | |
| Position : | chr5:51773619-51857504   |
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| Biosample name: | HEK-293,β-Cell | |
| Experiment class : | Low+High throughput |
| Enhancer type: | Enhancer | |
| Disease: | Type 2 Diabetes Mellitus | |
| DO: | DOID:9352 | |
| Mesh: | D003924 | |
| Distance from TSS: | >2KB | |
| Pubmed ID: | 24413736 |
| Enhancer experiment: | RNA-seq,ChIP-seq,ChIP,EMSA,PCR,4C,Luciferase Reporter Assay | |
| Enhancer experiment description: | To define enhancer clusters, we first created 1,000 iterations of randomized C3 sites in the mappable genome of individual chromosomes. We then calculated for each chromosome the 25th percentile of inter-site distances of randomized C3 sites (Supplementary Fig. 6a). Next,we defined clusters of islet C3 sites as any group of ≥3 C3 sites in which all adjacent C3 sites were separated by less than the abovementioned 25th percentile distance for randomized sites in the same chromosome. The distribution of islet C3 clusters differed from that of clusters generated with randomized C3 sites (Supplementary Fig. 6b) |
About Target gene
| Target gene : | ISL1(ISLET1,Isl-1) | |
| Strong evidence: | 4C | |
| Less strong evidence: | -- | |
| Target gene experiment description: | interactions between the ISL1 promoter and the C3-3 enhancer tested in zebrafish transgenics and located >1 Mb away (green star) |
About TF
| TF name : | FOXA2(HNF3B,TCF3B)MAFB(DURS3,KRML,MCTO)NKX2-2(NKX2.2,NKX2B) | |
| TF experiment: | ChIP-seq | |
| TF experiment description: | To determine the genomic binding sites of these islet transcription factors, we used chromatin immunoprecipitation and sequencing(ChIP-seq) in duplicate human islet samples and identified 3,911-32,747 high-confidence sites per transcription factor. |
About Function
| Enhancer function : | Dysregulation of islet enhancers is relevant to the mechanisms underlying type 2 diabetes. |
| Enhancer function experiment: | Luciferase Reporter Assay |
| Enhancer function experiment description: |
We next attempted to define functional enhancer variants within established GWAs loci that might be causal for T2D susceptibility. These results illustrate how islet accessible chromatin maps can pinpoint functional cis-regulatory variants that are strong candidates for a causal role in driving T2D-association signals. |
About SNP
| SNP ID: | -- | |
| SNP position: | -- |
| SNP experiment: | -- |
Enhancer associated network
The number on yellow line represents the distance between enhancer and target gene
