Variant report
| Variant | rs280920 |
|---|---|
| Chromosome Location | chr13:30261653-30261654 |
| 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 | chr13:30168183..30170103-chr13:30259878..30262393,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000139514 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:31)
| rs_ID | r2[population] |
|---|---|
| rs1023162 | 0.93[ASN][1000 genomes] |
| rs1023163 | 0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1093774 | 0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1104261 | 0.87[EUR][1000 genomes] |
| rs12428341 | 0.96[ASN][1000 genomes] |
| rs2089944 | 0.89[EUR][1000 genomes] |
| rs2234417 | 1.00[CHB][hapmap] |
| rs2388240 | 0.90[ASN][1000 genomes] |
| rs2388243 | 0.84[ASN][1000 genomes] |
| rs2669033 | 0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs2776951 | 0.89[EUR][1000 genomes] |
| rs280921 | 0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs280948 | 0.96[ASN][1000 genomes] |
| rs280957 | 0.93[ASN][1000 genomes] |
| rs280958 | 0.93[ASN][1000 genomes] |
| rs280959 | 0.96[ASN][1000 genomes] |
| rs280960 | 0.93[ASN][1000 genomes] |
| rs35803474 | 0.89[ASN][1000 genomes] |
| rs542930 | 0.89[ASN][1000 genomes] |
| rs547522 | 0.93[ASN][1000 genomes] |
| rs563819 | 0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs566688 | 0.96[ASN][1000 genomes] |
| rs573080 | 0.88[EUR][1000 genomes] |
| rs598281 | 1.00[CHB][hapmap];0.86[JPT][hapmap] |
| rs73157112 | 0.81[ASN][1000 genomes] |
| rs7326804 | 0.81[ASN][1000 genomes] |
| rs819102 | 0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs819104 | 0.96[ASN][1000 genomes] |
| rs819406 | 0.89[EUR][1000 genomes] |
| rs819408 | 0.89[EUR][1000 genomes] |
| rs943564 | 0.90[ASN][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 | nsv899961 | chr13:30226924-30407273 | Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS | Chromatin interactive regionlncRNAmiRNA target site | 4 gene(s) | inside rSNPs | diseases |
| 2 | esv3520592 | chr13:30243601-30648554 | Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 20 gene(s) | inside rSNPs | diseases |
| 3 | esv3520593 | chr13:30243601-30648554 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 20 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:30255000-30262200 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
| 2 | chr13:30259800-30263600 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
