Variant report
| Variant | rs17042271 |
|---|---|
| Chromosome Location | chr2:21618263-21618264 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:11)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- 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 | RAD21 | chr2:21618222-21618622 | MCF-7 | breast: | n/a | chr2:21618437-21618444 |
| 2 | CTCF | chr2:21618134-21618770 | A549 | lung: | n/a | chr2:21618429-21618447 |
| 3 | CTCF | chr2:21618025-21618619 | GM12878 | blood: | n/a | chr2:21618429-21618447 |
| 4 | RAD21 | chr2:21618024-21618552 | H1-hESC | embryonic stem cell: | n/a | chr2:21618437-21618444 |
| 5 | RAD21 | chr2:21617857-21619157 | SK-N-SH | brain: | n/a | chr2:21618437-21618444 |
| 6 | RAD21 | chr2:21618218-21618638 | HepG2 | liver: | n/a | chr2:21618437-21618444 |
| 7 | CTCF | chr2:21618225-21618670 | MCF-7 | breast: | n/a | chr2:21618429-21618447 |
| 8 | RAD21 | chr2:21617951-21618656 | H1-hESC | embryonic stem cell: | n/a | chr2:21618437-21618444 |
| 9 | CTCF | chr2:21618219-21618623 | HepG2 | liver: | n/a | chr2:21618429-21618447 |
| 10 | CTCF | chr2:21618258-21618658 | MCF-7 | breast: | n/a | chr2:21618429-21618447 |
| 11 | KAP1 | chr2:21617263-21618766 | U2OS | brain: | n/a | n/a |
| No data |
(count:2 , 50 per page) page:
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| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000231204 | TF binding region |
rSNPs within LD-proxies of this variant (count:29)
| rs_ID | r2[population] |
|---|---|
| rs12611495 | 0.87[ASN][1000 genomes] |
| rs12611610 | 0.87[ASN][1000 genomes] |
| rs12613395 | 0.87[ASN][1000 genomes] |
| rs12613921 | 0.92[CHB][hapmap];1.00[AMR][1000 genomes] |
| rs12614377 | 0.87[ASN][1000 genomes] |
| rs12615116 | 0.87[ASN][1000 genomes] |
| rs12615149 | 0.87[ASN][1000 genomes] |
| rs12616024 | 0.87[ASN][1000 genomes] |
| rs12616733 | 1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12621032 | 1.00[AMR][1000 genomes];0.92[ASN][1000 genomes] |
| rs12622330 | 1.00[AMR][1000 genomes];0.95[ASN][1000 genomes] |
| rs12623465 | 0.87[ASN][1000 genomes] |
| rs12623812 | 0.87[ASN][1000 genomes] |
| rs12624085 | 1.00[AMR][1000 genomes];0.95[ASN][1000 genomes] |
| rs1544858 | 0.92[CHB][hapmap] |
| rs17042275 | 0.92[CHB][hapmap] |
| rs17042331 | 1.00[AMR][1000 genomes] |
| rs17042350 | 1.00[AMR][1000 genomes] |
| rs17042404 | 1.00[AMR][1000 genomes] |
| rs58352420 | 1.00[AMR][1000 genomes];0.95[ASN][1000 genomes] |
| rs59092457 | 1.00[AMR][1000 genomes];0.95[ASN][1000 genomes] |
| rs6714370 | 0.84[CHB][hapmap] |
| rs73919240 | 1.00[AMR][1000 genomes];0.95[ASN][1000 genomes] |
| rs73919244 | 1.00[AMR][1000 genomes];0.95[ASN][1000 genomes] |
| rs73919245 | 1.00[AMR][1000 genomes];0.95[ASN][1000 genomes] |
| rs73919246 | 1.00[AMR][1000 genomes];0.95[ASN][1000 genomes] |
| rs73919247 | 1.00[AMR][1000 genomes];0.95[ASN][1000 genomes] |
| rs73919248 | 1.00[AMR][1000 genomes];0.95[ASN][1000 genomes] |
| rs73919249 | 1.00[AMR][1000 genomes];0.95[ASN][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 | nsv1011486 | chr2:21475803-22364002 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| 2 | nsv535602 | chr2:21475803-22364002 | Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| 3 | nsv2631 | chr2:21606995-21652014 | Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | n/a |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:21582000-21634600 | Weak transcription | Aorta | Aorta |
| 2 | chr2:21616200-21618800 | Weak transcription | Placenta Amnion | Placenta Amnion |
