About Enhancer

Enhancer ID: E_01_0879
Species: human
Position : chr20:46005995-46007995
Biosample name:
Experiment class : High+Lowthroughput
Enhancer type: Enhancer
Disease: Exfoliative glaucoma (xfg) in the central russian caucasian population
Pubmed ID:  33099542
Enhancer experiment: DNA isolation and genotyping assays, functional SNPs
Enhancer experiment description: Allele C rs3918249 MMP9 decreased risk for XFG (OR = 0.75), and allele G of the rs2250889 MMP9 locus increased risk for XFG (OR = 1.59-1.68) in the Caucasian population of Central Russia.

About Target gene

Target gene : --
Strong evidence: qRT-PCR,qPCR,ChIP,3C
Less strong evidence: RNA-Seq
Target gene experiment description: Allele C rs3918249 MMP9 decreased risk for XFG (OR = 0.75), and allele G of the rs2250889 MMP9 locus increased risk for XFG (OR = 1.59-1.68) in the Caucasian population of Central Russia.

About TF

TF name : MMP9
TF experiment: DNA ????????????? SNP
TF experiment description: Allele C rs3918249 MMP9 decreased risk for XFG (OR = 0.75), and allele G of the rs2250889 MMP9 locus increased risk for XFG (OR = 1.59-1.68) in the Caucasian population of Central Russia.

About Function

Enhancer function : Allele C rs3918249 MMP9 decreased risk for XFG (OR = 0.75), and allele G of the rs2250889 MMP9 locus increased risk for XFG (OR = 1.59-1.68) in the Caucasian population of Central Russia.
Enhancer function experiment: Immunohistochemical staining
Enhancer function
experiment description:		 Allele C rs3918249 MMP9 decreased risk for XFG (OR = 0.75), and allele G of the rs2250889 MMP9 locus increased risk for XFG (OR = 1.59-1.68) in the Caucasian population of Central Russia.

About SNP

SNP ID: rs3918242,rs3918249,rs17576,rs3787268,rs2250889,rs17577

Upstream Pathway Annotation of TF

GeneName Pathway Name Source Gene Number
MMP9 Activation of Matrix Metalloproteinases reactome 32
MMP9 Alzheimer disease-presenilin pathway panther 98
MMP9 amb2 Integrin signaling pid 32
MMP9 AP-1 transcription factor network pid 71
MMP9 Assembly of collagen fibrils and other multimeric structures reactome 44
MMP9 Collagen degradation reactome 39
MMP9 CXCR4-mediated signaling events pid 87
MMP9 Degradation of the extracellular matrix reactome 72
MMP9 EPH-ephrin mediated repulsion of cells reactome 48
MMP9 FGF signaling pathway pid 55
MMP9 LPA receptor mediated events pid 65
MMP9 Osteopontin-mediated events pid 32
MMP9 Plasma membrane estrogen receptor signaling pid 42
MMP9 Plasminogen activating cascade panther 16
MMP9 Regulation of nuclear beta catenin signaling and target gene transcription pid 80
MMP9 Signaling by SCF-KIT reactome 37
MMP9 Syndecan-1-mediated signaling events pid 42
MMP9 Syndecan-4-mediated signaling events pid 32
MMP9 Urokinase-type plasminogen activator (uPA) and uPAR-mediated signaling pid 42
MMP9 Validated targets of C-MYC transcriptional activation pid 80
MMP9 Validated transcriptional targets of AP1 family members Fra1 and Fra2 pid 37
MMP9 Leukocyte transendothelial migration kegg 116
MMP9 Pathways in cancer kegg 321
MMP9 Bladder cancer kegg 38
MMP9 Hs_Angiogenesis_WP1539_88983 wikipathways 17
MMP9 Hs_TNF_related_weak_inducer_of_apoptosis_(TWEAK)_Signaling_Pathway_WP2036_89910 wikipathways 27

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