Variant report
| Variant | rs73682386 |
|---|---|
| Chromosome Location | chr8:58404356-58404357 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:7)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:7 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | SMC3 | chr8:58403711-58404407 | SK-N-SH | brain: | n/a | chr8:58404061-58404075 |
| 2 | CTCF | chr8:58404280-58404430 | GM12871 | blood: | n/a | n/a |
| 3 | CTCF | chr8:58404260-58404410 | AG09319 | gingival: | n/a | n/a |
| 4 | CTCF | chr8:58404320-58404470 | AG09319 | gingival: | n/a | n/a |
| 5 | CTCF | chr8:58403808-58404394 | A549 | lung: | n/a | chr8:58404054-58404075 |
| 6 | CTCF | chr8:58404300-58404450 | HRE | kidney: | n/a | n/a |
| 7 | RAD21 | chr8:58403475-58404400 | SK-N-SH | brain: | n/a | n/a |
| No data |
(count:3 , 50 per page) page:
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| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000253821 | TF binding region |
rSNPs within LD-proxies of this variant (count:14)
| rs_ID | r2[population] |
|---|---|
| rs16922262 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs16922301 | 1.00[AMR][1000 genomes] |
| rs2218844 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs57421534 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs57722638 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73680249 | 1.00[AMR][1000 genomes] |
| rs73682315 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73682388 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73682390 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73682394 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73682624 | 1.00[AMR][1000 genomes] |
| rs73682629 | 1.00[AMR][1000 genomes] |
| rs73685103 | 1.00[AMR][1000 genomes] |
| rs73685107 | 1.00[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:9 , 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 | esv2758161 | chr8:57930392-58474449 | Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
| 2 | esv2759618 | chr8:57930392-58474449 | Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
| 3 | nsv533217 | chr8:57991065-58789001 | Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
| 4 | nsv890936 | chr8:58266339-58564501 | Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 5 | nsv524390 | chr8:58305969-58572471 | Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 6 | nsv518178 | chr8:58328635-58542880 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS | TF binding regionChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 7 | nsv1029189 | chr8:58336604-58409288 | Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 8 | nsv831322 | chr8:58389416-58551242 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS | TF binding regionChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 9 | nsv1015600 | chr8:58400271-58548970 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats | TF binding regionChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:58403800-58404400 | Enhancers | Liver | Liver |
| 2 | chr8:58404000-58408000 | Weak transcription | Muscle Satellite Cultured Cells | -- |
| 3 | chr8:58404200-58405200 | Enhancers | Pancreatic Islets | Pancreatic Islet |
