About Enhancer

Enhancer ID: E_01_0734
Species: human
Position : chr2:60447469-60449469
Biosample name:
Experiment class : High+Lowthroughput
Enhancer type: Enhancer
Disease: B-globin thalassemia
Pubmed ID:  30182035
Enhancer experiment: Miseq deep sequencing, QRT PCR, immunofluorescence staining
Enhancer experiment description: In addition, BCL11A enhancer modification in mobilized CD34+ cells from patients with b-thalassemia major resulted in a readily detectable g-globin increase with a preferential increase in G-gamma, leading to an improved phenotype and, likely, a survival advantage for maturing erythroid cells after editing.

About Target gene

Target gene : BCL11A
Strong evidence: qRT-PCR,qPCR,ChIP,3C
Less strong evidence: RNA-Seq
Target gene experiment description: In addition, BCL11A enhancer modification in mobilized CD34+ cells from patients with b-thalassemia major resulted in a readily detectable g-globin increase with a preferential increase in G-gamma, leading to an improved phenotype and, likely, a survival advantage for maturing erythroid cells after editing.

About TF

TF name : --
TF experiment: MiSeq Deep Sequencing,qRT-PCR,??????
TF experiment description: In addition, BCL11A enhancer modification in mobilized CD34+ cells from patients with b-thalassemia major resulted in a readily detectable g-globin increase with a preferential increase in G-gamma, leading to an improved phenotype and, likely, a survival advantage for maturing erythroid cells after editing.

About Function

Enhancer function : In addition, BCL11A enhancer modification in mobilized CD34+ cells from patients with b-thalassemia major resulted in a readily detectable g-globin increase with a preferential increase in G-gamma, leading to an improved phenotype and, likely, a survival advantage for maturing erythroid cells after editing.
Enhancer function experiment: Immunohistochemical staining
Enhancer function
experiment description:
In addition, BCL11A enhancer modification in mobilized CD34+ cells from patients with b-thalassemia major resulted in a readily detectable g-globin increase with a preferential increase in G-gamma, leading to an improved phenotype and, likely, a survival advantage for maturing erythroid cells after editing.

About SNP

SNP ID: --

Upstream Pathway Annotation of TF

GeneName Pathway Name Source Gene Number

Enhancer associated network

The number on yellow line represents the distance between enhancer and target gene

Expression of target genes for the enhancer


Enhancer associated SNPs