Variant report
| Variant | rs7240259 |
|---|---|
| Chromosome Location | chr18:28709559-28709560 |
| allele | G/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:11)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:11 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | BHLHE40 | chr18:28709551-28709585 | K562 | blood: | n/a | n/a |
| 2 | EP300 | chr18:28709540-28709688 | K562 | blood: | n/a | n/a |
| 3 | TEAD4 | chr18:28709393-28709654 | K562 | blood: | n/a | n/a |
| 4 | CCNT2 | chr18:28709473-28709866 | K562 | blood: | n/a | n/a |
| 5 | TAL1 | chr18:28709393-28709765 | K562 | blood: | n/a | n/a |
| 6 | GATA2 | chr18:28709418-28709669 | K562 | blood: | n/a | n/a |
| 7 | RCOR1 | chr18:28709441-28709997 | K562 | blood: | n/a | n/a |
| 8 | RCOR1 | chr18:28709455-28709924 | K562 | blood: | n/a | n/a |
| 9 | TEAD4 | chr18:28709396-28709775 | K562 | blood: | n/a | n/a |
| 10 | STAT5A | chr18:28709406-28709783 | K562 | blood: | n/a | n/a |
| 11 | POLR2A | chr18:28709434-28709668 | K562 | blood: | n/a | n/a |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr18:28707023..28709640-chr18:28710441..28712736,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000263698 | TF binding region |
| ENSG00000263698 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:11)
| rs_ID | r2[population] |
|---|---|
| rs16948612 | 1.00[AMR][1000 genomes] |
| rs2043734 | 1.00[AMR][1000 genomes] |
| rs28520988 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs28584973 | 1.00[AMR][1000 genomes] |
| rs28620831 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs9946137 | 0.80[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs9957402 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs9957506 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs9961861 | 1.00[AMR][1000 genomes] |
| rs9963657 | 0.84[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs9964449 | 1.00[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 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 | nsv530788 | chr18:28596461-28751891 | Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
| 2 | esv3360998 | chr18:28693111-28881812 | Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 3 | nsv519734 | chr18:28707415-28721534 | Weak transcription Strong transcription Enhancers | TF binding regionChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr18:28709400-28710400 | Strong transcription | Breast Myoepithelial Primary Cells | Breast |
