About Enhancer

Enhancer ID: E_01_0251
Species: human
Position : chr1:10633990-10635990
Biosample name:
Experiment class : High+Lowthroughput
Enhancer type: Enhancer
Disease: Chronic venous disease
Pubmed ID:  31570750
Enhancer experiment: PCR,Flow cytometry
Enhancer experiment description: This study demonstrates that the CASZ1 gene associated C-allele of rs11121615 has a signifcant, reproducible, association with CVD (CEAP C?2 meta-odds ratio 1.31, 95% CI 1.271.34, P=110?98, PHet=0.25), but not with non-varicose vein (CEAP C1, telangiectasia or reticular veins) forms of venous disease.

About Target gene

Target gene : CASZ1
Strong evidence: qRT-PCR,qPCR,ChIP,3C
Less strong evidence: RNA-Seq
Target gene experiment description: This study demonstrates that the CASZ1 gene associated C-allele of rs11121615 has a signifcant, reproducible, association with CVD (CEAP C?2 meta-odds ratio 1.31, 95% CI 1.271.34, P=110?98, PHet=0.25), but not with non-varicose vein (CEAP C1, telangiectasia or reticular veins) forms of venous disease.

About TF

TF name : --
TF experiment: PCR,Flow cytometry
TF experiment description: This study demonstrates that the CASZ1 gene associated C-allele of rs11121615 has a signifcant, reproducible, association with CVD (CEAP C?2 meta-odds ratio 1.31, 95% CI 1.271.34, P=110?98, PHet=0.25), but not with non-varicose vein (CEAP C1, telangiectasia or reticular veins) forms of venous disease.

About Function

Enhancer function : This study demonstrates that the CASZ1 gene associated C-allele of rs11121615 has a signifcant, reproducible, association with CVD (CEAP C?2 meta-odds ratio 1.31, 95% CI 1.271.34, P=110?98, PHet=0.25), but not with non-varicose vein (CEAP C1, telangiectasia or reticular veins) forms of venous disease.
Enhancer function experiment: Immunohistochemical staining
Enhancer function
experiment description:
This study demonstrates that the CASZ1 gene associated C-allele of rs11121615 has a signifcant, reproducible, association with CVD (CEAP C?2 meta-odds ratio 1.31, 95% CI 1.271.34, P=110?98, PHet=0.25), but not with non-varicose vein (CEAP C1, telangiectasia or reticular veins) forms of venous disease.

About SNP

SNP ID: rs11121615

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