Variant report
| Variant | rs6023248 |
|---|---|
| Chromosome Location | chr20:53058436-53058437 |
| allele | A/G |
| 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 | chr20:53055656..53058621-chr20:53075091..53077024,2 | MCF-7 | breast: | |
| 2 | chr20:53057077..53059223-chr7:102716078..102718486,2 | MCF-7 | breast: | |
| 3 | chr20:53057603..53060260-chr20:53065002..53067209,2 | K562 | blood: | |
| 4 | chr20:52879121..52882080-chr20:53057033..53059146,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:25)
| rs_ID | r2[population] |
|---|---|
| rs12329481 | 0.98[EUR][1000 genomes] |
| rs16999643 | 0.80[EUR][1000 genomes] |
| rs17317237 | 0.81[AMR][1000 genomes] |
| rs55957910 | 0.89[AMR][1000 genomes] |
| rs58143732 | 0.89[AMR][1000 genomes] |
| rs6014019 | 0.80[EUR][1000 genomes] |
| rs6014020 | 0.82[EUR][1000 genomes] |
| rs6023244 | 0.96[EUR][1000 genomes] |
| rs6023245 | 0.98[EUR][1000 genomes] |
| rs6023247 | 0.98[EUR][1000 genomes] |
| rs6023251 | 0.80[EUR][1000 genomes] |
| rs6023253 | 0.80[EUR][1000 genomes] |
| rs6023254 | 0.82[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs6023258 | 0.82[EUR][1000 genomes] |
| rs60780716 | 0.89[AMR][1000 genomes] |
| rs6097981 | 0.93[EUR][1000 genomes] |
| rs6097986 | 0.98[EUR][1000 genomes] |
| rs6097987 | 0.80[EUR][1000 genomes] |
| rs6097988 | 0.84[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs7264053 | 0.80[EUR][1000 genomes] |
| rs7264143 | 0.84[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs73141254 | 0.94[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs73141258 | 0.94[AMR][1000 genomes] |
| rs73145273 | 0.81[AMR][1000 genomes] |
| rs73145277 | 0.81[AMR][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 | nsv586224 | chr20:52474850-53279490 | Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 338 gene(s) | inside rSNPs | diseases |
| 2 | nsv834011 | chr20:52858341-53086042 | Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS | Chromatin interactive regionlncRNA | 55 gene(s) | inside rSNPs | diseases |
| 3 | nsv834012 | chr20:52921007-53097177 | Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 43 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr20:53058400-53058800 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
