Variant report
| Variant | rs17147878 |
|---|---|
| Chromosome Location | chr5:120812225-120812226 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr5:120810139..120812318-chr5:120820921..120823113,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:14)
| rs_ID | r2[population] |
|---|---|
| rs10036021 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs10036090 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs10036095 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs10037570 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs10037571 | 0.86[AFR][1000 genomes] |
| rs10037592 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs10037660 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs10040626 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs28545688 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs6861264 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs6876219 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs6876623 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs6877028 | 0.86[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs6879719 | 1.00[AFR][1000 genomes] |
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 | esv33642 | chr5:120380525-120848760 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 2 | nsv1023679 | chr5:120689805-120890257 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
| 3 | nsv882803 | chr5:120722413-120873947 | Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 4 | nsv882805 | chr5:120732139-120818132 | Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 5 | nsv882806 | chr5:120741900-120917249 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS | TF binding regionChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 6 | nsv882807 | chr5:120758647-120873947 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS | Chromatin interactive region | n/a | inside rSNPs | n/a |
| 7 | nsv882808 | chr5:120776767-120818132 | Weak transcription Flanking Active TSS Enhancers Active TSS | Chromatin interactive region | n/a | inside rSNPs | n/a |
| 8 | nsv981028 | chr5:120809278-120817237 | Enhancers Flanking Active TSS Weak transcription Active TSS | Chromatin interactive region | n/a | inside rSNPs | n/a |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:120812000-120813000 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
