Variant report
| Variant | rs2993013 |
|---|---|
| Chromosome Location | chr9:73510880-73510881 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:5)
| rs_ID | r2[population] |
|---|---|
| rs11142639 | 0.92[ASN][1000 genomes] |
| rs1337033 | 0.92[ASN][1000 genomes] |
| rs3010419 | 0.81[CHD][hapmap];1.00[JPT][hapmap] |
| rs3010447 | 0.81[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs7856482 | 0.80[JPT][hapmap] |
Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv893441 | chr9:73486034-73594114 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats | TF binding regionChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 2 | nsv818705 | chr9:73500857-73510880 | Enhancers Weak transcription | n/a | n/a | inside rSNPs | diseases |
| 3 | esv3483093 | chr9:73500939-73514808 | Weak transcription Enhancers | n/a | n/a | inside rSNPs | diseases |
| 4 | esv3483094 | chr9:73500939-73514808 | Enhancers Weak transcription | n/a | n/a | inside rSNPs | diseases |
| 5 | esv3693031 | chr9:73502424-73510880 | Enhancers Weak transcription | n/a | n/a | inside rSNPs | diseases |
| 6 | nsv818706 | chr9:73502424-73510880 | Enhancers Weak transcription | n/a | n/a | inside rSNPs | diseases |
| 7 | nsv516833 | chr9:73502424-73514958 | Weak transcription Enhancers | n/a | n/a | inside rSNPs | diseases |
| 8 | nsv430072 | chr9:73509677-73640530 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs2993013 | FXN | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:73508600-73519800 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
