Variant report
| Variant | rs2031151 |
|---|---|
| Chromosome Location | chr13:53490071-53490072 |
| 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 | chr13:53484977..53486705-chr13:53488074..53490777,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:16)
| rs_ID | r2[population] |
|---|---|
| rs2031152 | 0.94[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs2146641 | 0.83[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs4884286 | 0.94[EUR][1000 genomes] |
| rs4886025 | 0.89[EUR][1000 genomes] |
| rs4886027 | 0.91[EUR][1000 genomes] |
| rs543848 | 0.86[EUR][1000 genomes] |
| rs583444 | 0.86[EUR][1000 genomes] |
| rs586119 | 0.84[EUR][1000 genomes] |
| rs600114 | 0.84[EUR][1000 genomes] |
| rs666082 | 0.86[EUR][1000 genomes] |
| rs693209 | 0.81[EUR][1000 genomes] |
| rs7327287 | 0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs7328943 | 0.90[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs7490792 | 0.94[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs7987314 | 0.95[EUR][1000 genomes] |
| rs9568774 | 0.91[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv530719 | chr13:53173014-53675953 | Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 26 gene(s) | inside rSNPs | diseases |
| 2 | esv3440613 | chr13:53307609-53671072 | Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 10 gene(s) | inside rSNPs | diseases |
| 3 | nsv900090 | chr13:53429453-53495715 | Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:53482400-53490600 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
