Variant report
| Variant | rs72682419 |
|---|---|
| Chromosome Location | chr8:120085494-120085495 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- 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 | POLR2A | chr8:120085478-120085507 | MCF10A-Er-Src | breast: | n/a | n/a |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000254278 | TF binding region |
rSNPs within LD-proxies of this variant (count:15)
| rs_ID | r2[population] |
|---|---|
| rs11573939 | 1.00[ASN][1000 genomes] |
| rs11993915 | 1.00[ASN][1000 genomes] |
| rs11997898 | 1.00[ASN][1000 genomes] |
| rs16891963 | 1.00[ASN][1000 genomes] |
| rs1872425 | 1.00[ASN][1000 genomes] |
| rs55781186 | 1.00[ASN][1000 genomes] |
| rs7017788 | 1.00[ASN][1000 genomes] |
| rs72682416 | 0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72682426 | 1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72682427 | 1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72682428 | 1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72682430 | 1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72682431 | 1.00[ASN][1000 genomes] |
| rs72682433 | 0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72682444 | 0.83[AFR][1000 genomes];1.00[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 | nsv868916 | chr8:119911943-120762250 | Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 26 gene(s) | inside rSNPs | diseases |
| 2 | esv2758169 | chr8:119943309-120275750 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 16 gene(s) | inside rSNPs | diseases |
| 3 | esv2759639 | chr8:119943309-120275750 | Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 16 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:120084600-120095200 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
