About Enhancer

Enhancer ID: E_01_0846
Species: human
Position : chr16:30111578-30113578
Biosample name:
Experiment class : High+Lowthroughput
Enhancer type: Enhancer
Disease: Schizophrenia
Pubmed ID:  33246552
Enhancer experiment: Expression quantitative trait locus analysis, identification of epigenomic features, luciferase reporter assays, chromatin conformation capture, homology directed genome editing by CRISPR / cas9 (clustered regularly interspaced short palindromic repeats / cas9), RNA sequencing, and ATAC SEQ (assay for transposase accessible chromatin using sequencing)
Enhancer experiment description: We found that the schizophrenia GWAS risk variations at 16p11.2 were significantly associated with mRNA levels of multiple genes in human brain, and one of the leading eQTL genes, MAPK3, located ~200-kb away from these risk variations in the genome.

About Target gene

Target gene : MAPK3
Strong evidence: qRT-PCR,qPCR,ChIP,3C
Less strong evidence: RNA-Seq
Target gene experiment description: We found that the schizophrenia GWAS risk variations at 16p11.2 were significantly associated with mRNA levels of multiple genes in human brain, and one of the leading eQTL genes, MAPK3, located ~200-kb away from these risk variations in the genome.

About TF

TF name : --
TF experiment: ??????????????????????????????????????????CRISPR / Cas9?????????????????/ Cas9????????????RNA???ATAC-Seq??????????????????
TF experiment description: We found that the schizophrenia GWAS risk variations at 16p11.2 were significantly associated with mRNA levels of multiple genes in human brain, and one of the leading eQTL genes, MAPK3, located ~200-kb away from these risk variations in the genome.

About Function

Enhancer function : We found that the schizophrenia GWAS risk variations at 16p11.2 were significantly associated with mRNA levels of multiple genes in human brain, and one of the leading eQTL genes, MAPK3, located ~200-kb away from these risk variations in the genome.
Enhancer function experiment: Immunohistochemical staining
Enhancer function
experiment description:
We found that the schizophrenia GWAS risk variations at 16p11.2 were significantly associated with mRNA levels of multiple genes in human brain, and one of the leading eQTL genes, MAPK3, located ~200-kb away from these risk variations in the genome.

About SNP

SNP ID: rs4420550

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