About Enhancer

Enhancer ID: E_01_0676
Species: human
Position : chr8:56158399-56160399
Biosample name:
Experiment class : High+Lowthroughput
Enhancer type: Enhancer
Disease: Alzheimer disease
Pubmed ID:  30319691
Enhancer experiment: quantitative trait loci (eQTL)analysis?immunoassay
Enhancer experiment description: Three of the five SNPs were located in promoter or enhancer regions, and transcription factor (TF) binding affinity calculations showed dramatic changes (| Log2FC| > 2) of three TFs (PLAG1, RREB1, and ZBTB33) for two motifs containing SNPs rs2075650 and rs157580. In addition, our GWAS showed that both rs2075650 and rs157580 were significantly associated with the poliovirus receptorrelated 2 (PVRL2) gene (FDR < 0.25), which is involved in spreading of herpes simplex virus (HSV).

About Target gene

Target gene : PLAG1
Strong evidence: qRT-PCR,qPCR,ChIP,3C
Less strong evidence: RNA-Seq
Target gene experiment description: Three of the five SNPs were located in promoter or enhancer regions, and transcription factor (TF) binding affinity calculations showed dramatic changes (| Log2FC| > 2) of three TFs (PLAG1, RREB1, and ZBTB33) for two motifs containing SNPs rs2075650 and rs157580. In addition, our GWAS showed that both rs2075650 and rs157580 were significantly associated with the poliovirus receptorrelated 2 (PVRL2) gene (FDR < 0.25), which is involved in spreading of herpes simplex virus (HSV).

About TF

TF name : --
TF experiment: quantitative trait loci (eQTL)analysis?immunoassay
TF experiment description: Three of the five SNPs were located in promoter or enhancer regions, and transcription factor (TF) binding affinity calculations showed dramatic changes (| Log2FC| > 2) of three TFs (PLAG1, RREB1, and ZBTB33) for two motifs containing SNPs rs2075650 and rs157580. In addition, our GWAS showed that both rs2075650 and rs157580 were significantly associated with the poliovirus receptorrelated 2 (PVRL2) gene (FDR < 0.25), which is involved in spreading of herpes simplex virus (HSV).

About Function

Enhancer function : Three of the five SNPs were located in promoter or enhancer regions, and transcription factor (TF) binding affinity calculations showed dramatic changes (| Log2FC| > 2) of three TFs (PLAG1, RREB1, and ZBTB33) for two motifs containing SNPs rs2075650 and rs157580. In addition, our GWAS showed that both rs2075650 and rs157580 were significantly associated with the poliovirus receptorrelated 2 (PVRL2) gene (FDR < 0.25), which is involved in spreading of herpes simplex virus (HSV).
Enhancer function experiment: Immunohistochemical staining
Enhancer function
experiment description:
Three of the five SNPs were located in promoter or enhancer regions, and transcription factor (TF) binding affinity calculations showed dramatic changes (| Log2FC| > 2) of three TFs (PLAG1, RREB1, and ZBTB33) for two motifs containing SNPs rs2075650 and rs157580. In addition, our GWAS showed that both rs2075650 and rs157580 were significantly associated with the poliovirus receptorrelated 2 (PVRL2) gene (FDR < 0.25), which is involved in spreading of herpes simplex virus (HSV).

About SNP


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