About Enhancer

Enhancer ID: E_02_0537
Species: human
Position : chr13:99979122-99981122
Biosample name:
Experiment class : High+Lowthroughput
Enhancer type: Enhancer
Disease: Holoprosencephaly (hpe), congenital heart
Pubmed ID:  29992973
Enhancer experiment: Microarray analysis,qPCR,In situ hybridisation,Chip-Seq,EMSA assays
Enhancer experiment description: ZIC2 mutation is known to cause holoprosencephaly (HPE).

About Target gene

Target gene : ZIC2
Strong evidence: qRT-PCR,qPCR,ChIP,3C
Less strong evidence: RNA-Seq
Target gene experiment description: ZIC2 mutation is known to cause holoprosencephaly (HPE).

About TF

TF name : --
TF experiment: Microarray analysis,qPCR,In situ hybridisation,Chip-Seq,EMSA assays
TF experiment description: ZIC2 mutation is known to cause holoprosencephaly (HPE).

About Function

Enhancer function : ZIC2 mutation is known to cause holoprosencephaly (HPE).
Enhancer function experiment: Immunohistochemical staining
Enhancer function
experiment description:
ZIC2 mutation is known to cause holoprosencephaly (HPE).

About SNP

SNP ID: rs13482392

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