About Enhancer
| Enhancer ID: | E_00258 |
| Species: | Homo sapiens |
| Position : | chr2:127892710-127893072   |
| Year: | 2019 |
| Title: | Brain cell type-specific enhancer-promoter interactome maps and disease-risk association. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | Alzheimer disease |
| PMID: | 31727856 |
| MONDO: | MONDO:0004975 |
| Tissue: | brain |
| Tissue Ontology ID: | UBERON:0000955 |
| Cell Source: | Resected cerebral cortex PU.1+ nuclei |
| Cell Type: | microglial cell |
| Cell Ontology ID: | CL:0000129 |
| Experiment Type: | Enhancer activity assay; Chromatin interaction assay; TF binding assay; Functional perturbation assay |
| High Throughput Method: | ATAC-seq; H3K27ac ChIP-seq; H3K4me3 ChIP-seq; H3K4me3 PLAC-seq; RNA-seq; PU.1 ChIP-seq (supporting PMID 28546318) |
| Low Throughput Method: | CRISPR-Cas9 363-bp enhancer deletion; genomic PCR; amplicon cloning and sequencing; immunohistochemistry; Western blot; Flow cytometry |
About Target Gene
| Target gene : | BIN1 |
About TF
| TF name : | SPI1 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| SPI1 | C-MYB transcription factor network | pid | 87 |
| SPI1 | ERK cascade ( FGF8 signaling (Mouse) ) | inoh | 17 |
| SPI1 | ERK cascade ( FGF8 signaling (Xenopus) ) | inoh | 17 |
| SPI1 | FGF8 signaling pathway(Mouse) ( FGF8 signaling (Mouse) ) | inoh | 20 |
| SPI1 | FGF8 signaling pathway(Xenopus) ( FGF8 signaling (Xenopus) ) | inoh | 18 |
| SPI1 | Glucocorticoid receptor regulatory network | pid | 85 |
| SPI1 | IL4-mediated signaling events | pid | 66 |
| SPI1 | IL4 | netpath | 75 |
| SPI1 | Interleukin signaling pathway | panther | 86 |
| SPI1 | RANKL | netpath | 84 |
| SPI1 | Regulation of retinoblastoma protein | pid | 67 |
| SPI1 | Validated targets of C-MYC transcriptional repression | pid | 63 |
| SPI1 | Pathways in cancer | kegg | 321 |
| SPI1 | Acute myeloid leukemia | kegg | 53 |
| SPI1 | Hs_RANKL-RANK_(Receptor_activator_of_NFKB_(ligand))_Signaling_Pathway_WP2018_90016 | wikipathways | 26 |
Enhancer Associated Network
Overlapping Enhancers (hg19)
33 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_00186 | chr2:127892600-127892962 | brain | microglial cell | Alzheimer disease |
| E_00282 | chr2:127892600-127892962 | brain | microglial cell | NA |
| E_00641 | chr2:127892600-127892962 | brain | astrocyte | NA |
| E_00642 | chr2:127892600-127892962 | brain | neuron | NA |
| E_00188 | chr2:127892629-127892991 | cerebral cortex | microglial cell | Alzheimer disease |
| E_00189 | chr2:127892629-127892991 | cerebral cortex | microglial cell | Alzheimer disease |
| E_00190 | chr2:127892629-127892991 | cerebral cortex | microglial cell | Alzheimer disease |
| E_00255 | chr2:127892710-127893072 | brain | neuron | Alzheimer disease |
| E_00256 | chr2:127892710-127893072 | brain | neuron | Alzheimer disease |
| E_00257 | chr2:127892710-127893072 | brain | neuron | Alzheimer disease |
| E_00259 | chr2:127892710-127893072 | brain | microglial cell | Alzheimer disease |
| E_00260 | chr2:127892710-127893072 | brain | microglial cell | Alzheimer disease |
| E_00261 | chr2:127892710-127893072 | brain | neuron | Alzheimer disease |
| E_00262 | chr2:127892710-127893072 | brain | neuron | Alzheimer disease |
| E_00263 | chr2:127892710-127893072 | brain | neuron | Alzheimer disease |
| E_00264 | chr2:127892710-127893072 | brain | microglial cell | Alzheimer disease |
| E_00265 | chr2:127892710-127893072 | brain | microglial cell | Alzheimer disease |
| E_00266 | chr2:127892710-127893072 | brain | microglial cell | Alzheimer disease |
| E_00267 | chr2:127892710-127893072 | brain | neuron | Alzheimer disease |
| E_00268 | chr2:127892710-127893072 | brain | neuron | Alzheimer disease |
| E_00269 | chr2:127892710-127893072 | brain | neuron | Alzheimer disease |
| E_00270 | chr2:127892710-127893072 | brain | microglial cell | Alzheimer disease |
| E_00271 | chr2:127892710-127893072 | brain | microglial cell | Alzheimer disease |
| E_00272 | chr2:127892710-127893072 | brain | microglial cell | Alzheimer disease |
| E_00433 | chr2:127892710-127893072 | brain | astrocyte | Alzheimer disease |
| E_00434 | chr2:127892710-127893072 | brain | astrocyte | Alzheimer disease |
| E_00435 | chr2:127892710-127893072 | brain | astrocyte | Alzheimer disease |
| E_00436 | chr2:127892710-127893072 | brain | astrocyte | Alzheimer disease |
| E_00437 | chr2:127892710-127893072 | brain | astrocyte | Alzheimer disease |
| E_00438 | chr2:127892710-127893072 | brain | astrocyte | Alzheimer disease |
| E_00439 | chr2:127892710-127893072 | brain | astrocyte | Alzheimer disease |
| E_00440 | chr2:127892710-127893072 | brain | astrocyte | Alzheimer disease |
| E_00441 | chr2:127892710-127893072 | brain | astrocyte | Alzheimer disease |
Expression of Target Genes for the Enhancer