About Enhancer
| Enhancer ID: | E_01_0197 |
| Species: | human |
| Position : | chr11:128455802-128457802   |
| Biosample name: | |
| Experiment class : | High+Lowthroughput |
| Enhancer type: | Enhancer |
| Disease: | Systemic lupus erythematosus |
| Pubmed ID: | 31659207 |
| Enhancer experiment: | Flow cytometry,PCR |
| Enhancer experiment description: | ETS1 is involved in B cell and T17 cell diferentiation, and an association between rs1128334 and SLE has been reported in Asian SLE cohorts39. |
About Target gene
| Target gene : | TLR7,TNPO3 |
| Strong evidence: | qRT-PCR,qPCR,ChIP,3C |
| Less strong evidence: | RNA-Seq |
| Target gene experiment description: | ETS1 is involved in B cell and T17 cell diferentiation, and an association between rs1128334 and SLE has been reported in Asian SLE cohorts39.;Te rare variant we identifed at this locus was located in a lower information nucleotide in a FOXP3 motif and was found to increase ETS1 expression via luciferase assay (Fig. 1D and Supplementary Table 1).;We found a rare variant near rs10036748, within the TNIP1 gene, which impaired TNIP1 expression according to a luciferase reporter assay (Fig. 1E and Supplementary Table 1).;We identifed novel variants in the loci of IRF5, ETS1, ITGAM1 and TNIP1, each of which caused alterations in the expression levels of the association genes.;Moreover, mice lacking Gf1 have recently been reported to develop a TLR7-dependent lupus-like phenotype, which the authors showed to involve excess NF?B signaling45.;The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share. |
About TF
| TF name : | ETS1(ETS-1,EWSR2,c-ets-1,p54)FOXP3TNIP1IRF5 |
| TF experiment: | Flow cytometry,PCR |
| TF experiment description: | ETS1 is involved in B cell and T17 cell diferentiation, and an association between rs1128334 and SLE has been reported in Asian SLE cohorts39.;Te rare variant we identifed at this locus was located in a lower information nucleotide in a FOXP3 motif and was found to increase ETS1 expression via luciferase assay (Fig. 1D and Supplementary Table 1).;We found a rare variant near rs10036748, within the TNIP1 gene, which impaired TNIP1 expression according to a luciferase reporter assay (Fig. 1E and Supplementary Table 1).;We identifed novel variants in the loci of IRF5, ETS1, ITGAM1 and TNIP1, each of which caused alterations in the expression levels of the association genes.;Moreover, mice lacking Gf1 have recently been reported to develop a TLR7-dependent lupus-like phenotype, which the authors showed to involve excess NF?B signaling45.;The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share. |
About Function
| Enhancer function : | ETS1 is involved in B cell and T17 cell diferentiation, and an association between rs1128334 and SLE has been reported in Asian SLE cohorts39. |
| Enhancer function experiment: | Immunohistochemical staining |
| Enhancer function experiment description: |
ETS1 is involved in B cell and T17 cell diferentiation, and an association between rs1128334 and SLE has been reported in Asian SLE cohorts39. |
About SNP
| SNP ID: | rs9888739 |
Upstream Pathway Annotation of TF
Enhancer associated network
The number on yellow line represents the distance between enhancer and
target gene