Variant report
| Variant | rs1820535 |
|---|---|
| Chromosome Location | chr8:125923178-125923179 |
| allele | A/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr8:125922613..125924246-chr8:125927138..125929372,2 | MCF-7 | breast: | |
| 2 | chr8:125921317..125924138-chr8:125956961..125959492,2 | MCF-7 | breast: | |
| 3 | chr8:125922807..125927741-chr8:125929705..125933401,5 | MCF-7 | breast: | |
| 4 | chr8:125921782..125924509-chr8:125964835..125967359,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000250428 | Chromatin interaction |
| ENSG00000249816 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:15)
| rs_ID | r2[population] |
|---|---|
| rs11779177 | 0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap] |
| rs13273002 | 0.89[JPT][hapmap] |
| rs16900098 | 0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap] |
| rs1820536 | 0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs28890850 | 0.94[ASN][1000 genomes] |
| rs5012401 | 0.83[CHB][hapmap];0.88[JPT][hapmap] |
| rs59588340 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs61634814 | 0.95[ASN][1000 genomes] |
| rs6470322 | 0.95[ASN][1000 genomes] |
| rs6986033 | 0.93[ASN][1000 genomes] |
| rs6993611 | 0.81[ASN][1000 genomes] |
| rs6998268 | 0.94[ASN][1000 genomes] |
| rs7009755 | 0.95[ASN][1000 genomes] |
| rs7821961 | 0.96[ASN][1000 genomes] |
| rs7834130 | 0.95[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv891434 | chr8:125630655-126324432 | Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 80 gene(s) | inside rSNPs | diseases |
| 2 | nsv1030803 | chr8:125868684-125969635 | Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 36 gene(s) | inside rSNPs | diseases |
| 3 | nsv1024405 | chr8:125868684-125971035 | Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 36 gene(s) | inside rSNPs | diseases |
| 4 | nsv1020502 | chr8:125868684-125972572 | Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 36 gene(s) | inside rSNPs | diseases |
| 5 | nsv971701 | chr8:125909483-125925671 | Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer | Chromatin interactive region | 5 gene(s) | inside rSNPs | n/a |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:125922200-125925400 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 2 | chr8:125923000-125923600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
