Variant report
| Variant | esv3517660 |
|---|---|
| Chromosome Location | chr12:34300120-34300437 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:6)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:6 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | POLR2A | chr12:34300192-34300392 | GM12878 | blood: | n/a | n/a |
| 2 | POLR2A | chr12:34300425-34300623 | MCF10A-Er-Src | breast: | n/a | n/a |
| 3 | SPI1 | chr12:34299913-34300207 | HL-60 | blood: | n/a | n/a |
| 4 | SPI1 | chr12:34299983-34300227 | K562 | blood: | n/a | n/a |
| 5 | ZNF384 | chr12:34300079-34300274 | GM12878 | blood: | n/a | n/a |
| 6 | ZNF384 | chr12:34300048-34300134 | K562 | blood: | n/a | n/a |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000255628 | TF binding region |
Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs78238355 | chr12:34300125-34300126 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs386376194 | chr12:34300133-34300134 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs386376195 | chr12:34300150-34300151 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs71298046 | chr12:34300153-34300154 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs571430639 | chr12:34300178-34300179 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs533996006 | chr12:34300196-34300197 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs11053139 | chr12:34300231-34300232 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs112348870 | chr12:34300236-34300237 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs189989095 | chr12:34300241-34300242 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs555367810 | chr12:34300247-34300248 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs575547033 | chr12:34300296-34300297 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs193210365 | chr12:34300342-34300343 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 13 | rs185614722 | chr12:34300363-34300364 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 14 | rs371822711 | chr12:34300370-34300371 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 15 | rs539899215 | chr12:34300376-34300377 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 16 | rs553776097 | chr12:34300386-34300387 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 17 | rs573545987 | chr12:34300387-34300388 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 18 | rs545213934 | chr12:34300425-34300426 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 19 | rs565097179 | chr12:34300426-34300427 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:50)
| Disease | PMID | Source |
|---|---|---|
| Wilms tumour | 21544195 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Cancer | 16751803 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Seminomas | 18059402 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Cancer | 20164919 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Cancer | 21129771 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Breast cancer | 17133270 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Chordoma | 18071362 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Intellectual disability | 22045946 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
Chromatin state (count:0 , 50 per page) page:
| No data |
