Enhancer ID: | E_01_280 | |
Enhancer symbol: | -- | |
Species: | Human | |
Position : | chr6:12490000-12590000 |
|
Biosample name: | HUVEC | |
Experiment class : | Low throughput |
Enhancer type: | Super-Enhancer | |
Disease: | Coronary Artery Disease,Migraine Headache,Cervical Artery Dissection,Fibromuscular Dysplasia,Hypertension | |
DO: | DOID:10763 | |
Mesh: | D006973 | |
Distance from TSS: | >2KB | |
Pubmed ID: | 28753427 |
Enhancer experiment: | 4C-seq,Luciferase Reporter Assay | |
Enhancer experiment description: | The newly released ENCODE phase 3 data, however, includes four aortic artery samples. In these aortic samples, a strong enhancer signal overlies rs9349379 (Figure 2B), spanning 1 kb. 4C-seq from the rs9349379 site demonstrated a smaller contact region that extended from chr6:12,690,000–13,350,000. There was a possible area of over-lap intergenic to EDN1 and PHACTR1 (Figure 5A). Notably, this region featured high levels of H3K27Ac signal in ECs, consistent with a super enhancer (Figure 5B). The common contact region contains four distinct peaks of H3K27Ac signal. Reporter assays with each of these four sites cloned into an SV40-driven luciferase plasmid demonstrated that each cis element possessed strong enhancer activity in 293T cells (2- to 12-fold luciferase induction) comparedwith SV40-promoter sequence alone (Figure 5C). |
Target gene : | EDN1(ARCND3,ET1,HDLCQ7,PPET1,QME) | |
Strong evidence: | 4C-seq | |
Less strong evidence: | Luciferase Reporter Assay | |
Target gene experiment description: | The newly released ENCODE phase 3 data, however, includes four aortic artery samples. In these aortic samples, a strong enhancer signal overlies rs9349379 (Figure 2B), spanning 1 kb. 4C-seq from the rs9349379 site demonstrated a smaller contact region that extended from chr6:12,690,000–13,350,000. There was a possible area of over-lap intergenic to EDN1 and PHACTR1 (Figure 5A). Notably, this region featured high levels of H3K27Ac signal in ECs, consistent with a super enhancer (Figure 5B). The common contact region contains four distinct peaks of H3K27Ac signal. Reporter assays with each of these four sites cloned into an SV40-driven luciferase plasmid demonstrated that each cis element possessed strong enhancer activity in 293T cells (2- to 12-fold luciferase induction) comparedwith SV40-promoter sequence alone (Figure 5C). |
TF name : | -- | |
TF experiment: | -- | |
TF experiment description: | -- |
Enhancer function : | -- |
Enhancer function experiment: | -- |
Enhancer function experiment description: |
-- |
SNP ID: | rs9349379 | |
SNP position: | 12803957 |
SNP experiment: | RNA-seq |
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