About Enhancer

Enhancer ID: E_01_0209
Species: human
Position : chr4:110614447-110616447
Biosample name:
Experiment class : High+Lowthroughput
Enhancer type: Enhancer
Disease: Atrial fibrillation
Pubmed ID:  31636200
Enhancer experiment: Flow cytometry,PCR,Western blot
Enhancer experiment description: Genome-wide association studies found that increased risk for atrial fibrillation (AF), the most common human heart arrhythmia,is associated with noncoding sequence variants located in proxim_x0002_ity to PITX2.

About Target gene

Target gene : --
Strong evidence: qRT-PCR,qPCR,ChIP,3C
Less strong evidence: RNA-Seq
Target gene experiment description: Genome-wide association studies found that increased risk for atrial fibrillation (AF), the most common human heart arrhythmia,is associated with noncoding sequence variants located in proxim_x0002_ity to PITX2.

About TF

TF name : PITX2(9430085M16Rik,Brx1,Brx1b,Munc30,Otlx2,Ptx2,Rieg)
TF experiment: Flow cytometry,PCR,Western blot
TF experiment description: Genome-wide association studies found that increased risk for atrial fibrillation (AF), the most common human heart arrhythmia,is associated with noncoding sequence variants located in proxim_x0002_ity to PITX2.

About Function

Enhancer function : Genome-wide association studies found that increased risk for atrial fibrillation (AF), the most common human heart arrhythmia,is associated with noncoding sequence variants located in proxim_x0002_ity to PITX2.
Enhancer function experiment: Immunohistochemical staining
Enhancer function
experiment description:
Genome-wide association studies found that increased risk for atrial fibrillation (AF), the most common human heart arrhythmia,is associated with noncoding sequence variants located in proxim_x0002_ity to PITX2.

About SNP

SNP ID: rs2595104

Upstream Pathway Annotation of TF

GeneName Pathway Name Source Gene Number
PITX2 Regulation of nuclear beta catenin signaling and target gene transcription pid 80
PITX2 TGF-beta signaling pathway kegg 82
PITX2 Hs_Heart_Development_WP1591_90186 wikipathways 28
PITX2 Hs_BMP_Signaling_Pathway_in_Eyelid_Development_WP3927_90735 wikipathways 11

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