Variant report
| Variant | rs59500227 |
|---|---|
| Chromosome Location | chr14:81597547-81597548 |
| allele | C/T |
| 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 | chr14:81596731..81598312-chr14:81628484..81630801,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:29)
| rs_ID | r2[population] |
|---|---|
| rs10131452 | 0.94[ASN][1000 genomes] |
| rs10131719 | 0.94[ASN][1000 genomes] |
| rs10133928 | 0.93[ASN][1000 genomes] |
| rs10142430 | 0.96[ASN][1000 genomes] |
| rs10147462 | 0.87[ASN][1000 genomes] |
| rs12323385 | 0.95[ASN][1000 genomes] |
| rs17111530 | 0.95[ASN][1000 genomes] |
| rs2273845 | 0.87[ASN][1000 genomes] |
| rs2284737 | 0.97[ASN][1000 genomes] |
| rs2300537 | 0.86[ASN][1000 genomes] |
| rs28491084 | 0.89[ASN][1000 genomes] |
| rs28507187 | 0.90[ASN][1000 genomes] |
| rs28640259 | 0.89[ASN][1000 genomes] |
| rs28661095 | 0.90[ASN][1000 genomes] |
| rs28701878 | 0.97[ASN][1000 genomes] |
| rs28730923 | 0.92[ASN][1000 genomes] |
| rs3783938 | 0.96[ASN][1000 genomes] |
| rs3783940 | 0.97[ASN][1000 genomes] |
| rs57632490 | 0.92[EUR][1000 genomes] |
| rs59645772 | 0.90[ASN][1000 genomes] |
| rs6574628 | 0.97[ASN][1000 genomes] |
| rs7150881 | 0.97[ASN][1000 genomes] |
| rs72627193 | 0.97[ASN][1000 genomes] |
| rs72627194 | 0.97[ASN][1000 genomes] |
| rs72627195 | 0.97[ASN][1000 genomes] |
| rs72627196 | 0.97[ASN][1000 genomes] |
| rs72627197 | 0.95[ASN][1000 genomes] |
| rs72627198 | 0.94[ASN][1000 genomes] |
| rs8020489 | 0.95[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1052999 | chr14:81468860-81599074 | Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 5 gene(s) | inside rSNPs | diseases |
| 2 | nsv542144 | chr14:81468860-81599074 | Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 5 gene(s) | inside rSNPs | diseases |
| 3 | nsv832841 | chr14:81588322-81743921 | Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 86 gene(s) | inside rSNPs | diseases |
| 4 | esv2495579 | chr14:81596593-81597975 | Weak transcription Enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 5 | esv7865 | chr14:81596775-81597616 | Weak transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 6 | esv2265006 | chr14:81596841-81597554 | Weak transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:81592200-81597800 | Weak transcription | Liver | Liver |
| 2 | chr14:81592200-81609000 | Weak transcription | Thymus | Thymus |
| 3 | chr14:81592400-81601000 | Weak transcription | Dnd41 | blood |
