Variant report
| Variant | rs57076954 |
|---|---|
| Chromosome Location | chr8:60510368-60510369 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | STAT3 | chr8:60510358-60510412 | MCF10A-Er-Src | breast: | n/a | n/a |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr8:60505094..60507330-chr8:60508230..60511083,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000253879 | TF binding region |
| ENSG00000253260 | TF binding region |
| ENSG00000253260 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:21)
| rs_ID | r2[population] |
|---|---|
| rs56956534 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs57775428 | 0.86[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs58767989 | 1.00[AMR][1000 genomes] |
| rs61007460 | 1.00[AMR][1000 genomes] |
| rs6996210 | 1.00[AMR][1000 genomes] |
| rs7008888 | 1.00[AMR][1000 genomes] |
| rs7009016 | 1.00[AMR][1000 genomes] |
| rs7013015 | 1.00[AMR][1000 genomes] |
| rs7013170 | 1.00[AMR][1000 genomes] |
| rs7013484 | 1.00[AMR][1000 genomes] |
| rs7014445 | 1.00[AMR][1000 genomes] |
| rs73245943 | 1.00[AMR][1000 genomes] |
| rs73245946 | 0.84[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73245948 | 1.00[AMR][1000 genomes] |
| rs73245951 | 0.86[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73245971 | 1.00[AMR][1000 genomes] |
| rs73245974 | 1.00[AMR][1000 genomes] |
| rs73245978 | 1.00[AMR][1000 genomes] |
| rs73245993 | 1.00[AMR][1000 genomes] |
| rs73245999 | 1.00[AMR][1000 genomes] |
| rs7813801 | 1.00[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1029441 | chr8:60099776-60539141 | Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 2 | nsv539629 | chr8:60099776-60539141 | ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 3 | nsv831330 | chr8:60270398-60514078 | Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 4 | nsv1030564 | chr8:60445016-60752655 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| 5 | nsv539630 | chr8:60445016-60752655 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:60506000-60511800 | Weak transcription | Fetal Heart | heart |
| 2 | chr8:60506400-60510800 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 3 | chr8:60509800-60511000 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
