Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_00117
Species: Homo sapiens
Position : chr12:64791312-64791930
Year: 2024
Title: Multiplex single-cell CRISPRa screening for cell type specific regulatory elements
Genome Build: hg38
Enhancer Type: Enhancer
Condition: Disease
Disease Name: Neurodevelopmental disorder
PMID:  39294132
MONDO: MONDO:0007186
Tissue: Brain
Tissue Ontology ID: UBERON:0000955
Cell Source: WTC11 iPSC-neuron
CVCL ID:
Cell Type: excitatory iPSC-derived neuron
Cell Ontology ID: CL:0002358
Experiment Type: CRISPRa gain-of-function perturbation, single-cell RNA-seq validation
High Throughput Method: scRNA-seq, neuronal ATAC-seq, H3K27ac CUT&RUN, pooled CRISPR screening
Low Throughput Method: bulk RNA-seq singleton validation, iPSC differentiation, lentiviral transduction, RT-qPCR
About Target Gene
Target gene : HMGA1
About TF
TF name :
About Regulatory State
Regulatory State : Active
Upstream Pathway Annotation of TF
GeneName Pathway Name Source Gene Number
Enhancer Associated Network
Overlapping Enhancers (hg38) 2 found
Enhancer ID Position Tissue Cell Disease
E_00116 chr12:64791312-64791930 Brain excitatory iPSC-derived neuron --
E_00118 chr12:64791312-64791930 Bone marrow erythroleukemia cell Chronic myelogenous leukemia
Expression of Target Genes for the Enhancer