About Enhancer

Enhancer ID: E_01_0193
Species: human
Position : chr17:50181276-50183276
Biosample name:
Experiment class : High+Lowthroughput
Enhancer type: Enhancer
Disease: Inflammation
Pubmed ID:  31666072
Enhancer experiment: ChIP-Seq
Enhancer experiment description: Many mutations associated with these conditions (e.g., col_x0002_lagen [COL1A1] in patients with Ehlers-Danlos syndrome)affect the structural integrity of the vasculature or the abil_x0002_ity of the vessel walls to maintain homeostasis [12, 13].

About Target gene

Target gene : --
Strong evidence: qRT-PCR,qPCR,ChIP,3C
Less strong evidence: RNA-Seq
Target gene experiment description: Many mutations associated with these conditions (e.g., col_x0002_lagen [COL1A1] in patients with Ehlers-Danlos syndrome)affect the structural integrity of the vasculature or the abil_x0002_ity of the vessel walls to maintain homeostasis [12, 13].

About TF

TF name : COL1A1
TF experiment: ChIP-Seq
TF experiment description: Many mutations associated with these conditions (e.g., col_x0002_lagen [COL1A1] in patients with Ehlers-Danlos syndrome)affect the structural integrity of the vasculature or the abil_x0002_ity of the vessel walls to maintain homeostasis [12, 13].

About Function

Enhancer function : Many mutations associated with these conditions (e.g., col_x0002_lagen [COL1A1] in patients with Ehlers-Danlos syndrome)affect the structural integrity of the vasculature or the abil_x0002_ity of the vessel walls to maintain homeostasis [12, 13].
Enhancer function experiment: Immunohistochemical staining
Enhancer function
experiment description:		 Many mutations associated with these conditions (e.g., col_x0002_lagen [COL1A1] in patients with Ehlers-Danlos syndrome)affect the structural integrity of the vasculature or the abil_x0002_ity of the vessel walls to maintain homeostasis [12, 13].

About SNP

SNP ID: rs1333040

Upstream Pathway Annotation of TF

GeneName Pathway Name Source Gene Number
COL1A1 Acenocoumarol Action Pathway smpdb 20
COL1A1 Alteplase Action Pathway smpdb 20
COL1A1 Aminocaproic Acid Action Pathway smpdb 20
COL1A1 Anistreplase Action Pathway smpdb 20
COL1A1 Aprotinin Action Pathway smpdb 20
COL1A1 Ardeparin Action Pathway smpdb 21
COL1A1 Argatroban Action Pathway smpdb 20
COL1A1 Assembly of collagen fibrils and other multimeric structures reactome 44
COL1A1 Beta1 integrin cell surface interactions pid 70
COL1A1 Beta3 integrin cell surface interactions pid 44
COL1A1 Bivalirudin Action Pathway smpdb 20
COL1A1 Coagulation smpdb 20
COL1A1 Collagen biosynthesis and modifying enzymes reactome 66
COL1A1 Dicoumarol Action Pathway smpdb 20
COL1A1 Dicumarol Action Pathway smpdb 20
COL1A1 Enoxaparin Action Pathway smpdb 21
COL1A1 Fondaparinux Action Pathway smpdb 21
COL1A1 Heparin Action Pathway smpdb 21
COL1A1 IL4-mediated signaling events pid 66
COL1A1 Integrin signaling pathway ( Integrin signaling pathway ) inoh 123
COL1A1 Integrin signalling pathway panther 156
COL1A1 Integrins in angiogenesis pid 66
COL1A1 Lepirudin Action Pathway smpdb 20
COL1A1 Phenindione Action Pathway smpdb 20
COL1A1 Phenprocoumon Action Pathway smpdb 20
COL1A1 Reteplase Action Pathway smpdb 20
COL1A1 Scavenging by Class A Receptors reactome 19
COL1A1 Streptokinase Action Pathway smpdb 20
COL1A1 Syndecan-1-mediated signaling events pid 42
COL1A1 Tenecteplase Action Pathway smpdb 20
COL1A1 Tranexamic Acid Action Pathway smpdb 20
COL1A1 Urokinase Action Pathway smpdb 20
COL1A1 VEGFR3 signaling in lymphatic endothelium pid 26
COL1A1 Warfarin Action Pathway smpdb 20
COL1A1 Ximelagatran Action Pathway smpdb 20
COL1A1 Focal adhesion kegg 197
COL1A1 ECM-receptor interaction kegg 84
COL1A1 Amoebiasis kegg 103
COL1A1 Hs_mRNA_Processing_WP411_79980 wikipathways 14
COL1A1 Hs_Osteoblast_Signaling_WP322_90527 wikipathways 10
COL1A1 Hs_Senescence_and_Autophagy_in_Cancer_WP615_81193 wikipathways 62
COL1A1 Hs_miR-509-3p_alteration_of_YAP1-ECM_axis_WP3967_91491 wikipathways 14

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