Variant report
| Variant | rs4811500 |
|---|---|
| Chromosome Location | chr20:52900152-52900153 |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr20:52835609..52839947-chr20:52897046..52901468,5 | MCF-7 | breast: | |
| 2 | chr20:52823385..52825009-chr20:52898097..52901068,2 | MCF-7 | breast: | |
| 3 | chr20:52891210..52894147-chr20:52899496..52901678,2 | MCF-7 | breast: | |
| 4 | chr20:52898596..52901613-chr20:52930745..52932671,3 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000101132 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:12)
| rs_ID | r2[population] |
|---|---|
| rs10485793 | 1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs1382011 | 0.82[EUR][1000 genomes] |
| rs1477722 | 0.89[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs1477723 | 0.83[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs1477731 | 0.82[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs28555372 | 0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs4811499 | 1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs6097867 | 0.93[CEU][hapmap] |
| rs6123369 | 0.90[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs6127152 | 0.81[JPT][hapmap] |
| rs62216588 | 0.90[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs62216601 | 0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
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| 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 | nsv834010 | chr20:52759824-52932939 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 119 gene(s) | inside rSNPs | diseases |
| 3 | 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 |
| 4 | nsv962638 | chr20:52883415-52917517 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS | Chromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr20:52899200-52900400 | Enhancers | Fetal Brain Male | brain |
