Variant report
| Variant | esv3388195 |
|---|---|
| Chromosome Location | chr12:43045289-43045905 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:9)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:9 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | CTCF | chr12:43045815-43046338 | MCF-7 | breast: | n/a | n/a |
| 2 | GATA3 | chr12:43045853-43046377 | MCF-7 | breast: | n/a | n/a |
| 3 | NR2F2 | chr12:43045758-43046334 | MCF-7 | breast: | n/a | n/a |
| 4 | RAD21 | chr12:43045887-43046339 | ECC-1 | luminal epithelium: | n/a | n/a |
| 5 | RAD21 | chr12:43045780-43046340 | HCT-116 | colon: | n/a | n/a |
| 6 | RAD21 | chr12:43045816-43046336 | MCF-7 | breast: | n/a | n/a |
| 7 | RAD21 | chr12:43045854-43046340 | MCF-7 | breast: | n/a | n/a |
| 8 | RAD21 | chr12:43045904-43046244 | HCT-116 | colon: | n/a | n/a |
| 9 | RAD21 | chr12:43045779-43046346 | ECC-1 | luminal epithelium: | n/a | n/a |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000257510 | TF binding region |
Variant overlapped rSNPs/rCNVs (count:13 , 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 | rs556072408 | chr12:43045371-43045372 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs574581748 | chr12:43045374-43045375 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs147777376 | chr12:43045415-43045416 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs375992032 | chr12:43045417-43045418 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs553675443 | chr12:43045426-43045427 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs572869421 | chr12:43045465-43045466 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs374912000 | chr12:43045631-43045632 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs181509468 | chr12:43045652-43045653 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs185756830 | chr12:43045659-43045660 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs564968508 | chr12:43045795-43045796 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs532468188 | chr12:43045829-43045830 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs141088150 | chr12:43045876-43045877 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs562893103 | chr12:43045898-43045899 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:57)
| Disease | PMID | Source |
|---|---|---|
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Seminomas | 18059402 | CNVD |
| Wilms tumour | 21544195 | 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 |
| Ewing''s sarcoma | 21437220 | 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 |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Breast cancer | 21949216 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 21637783 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Gastrointestinal stromal cancer | 20470368 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Cancer | 21183584 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Lissencephaly | 21572526 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Breast cancer | 21364760 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Cancer | 20164919 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:43035200-43045800 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 2 | chr12:43045000-43046600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 3 | chr12:43045400-43046000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 4 | chr12:43045400-43046000 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
| 5 | chr12:43045400-43046200 | Enhancers | H1 Cell Line | embryonic stem cell |
| 6 | chr12:43045600-43046200 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 7 | chr12:43045800-43046200 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
