Variant report
| Variant | esv2017272 |
|---|---|
| Chromosome Location | chr12:50759434-50759438 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:7)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:1)
- 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 | CEBPD | chr12:50759437-50759876 | K562 | blood: | n/a | n/a |
| 2 | GATA2 | chr12:50759397-50759980 | K562 | blood: | n/a | n/a |
| 3 | MAX | chr12:50759409-50759851 | K562 | blood: | n/a | n/a |
| 4 | NR2F2 | chr12:50759313-50759951 | K562 | blood: | n/a | n/a |
| 5 | TBP | chr12:50759438-50759810 | K562 | blood: | n/a | n/a |
| 6 | TEAD4 | chr12:50759392-50759987 | K562 | blood: | n/a | n/a |
| 7 | USF1 | chr12:50759377-50759824 | 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 | chr12:50758172..50761780-chr12:50791230..50796188,4 | K562 | blood: |
(count:1 , 50 per page) page:
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| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-LARP4-2 | chr12:50759435-50759869 | NONHSAT028208 |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000244266 | TF binding region |
| ENSG00000161813 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs148585199 | chr12:50759434-50759435 | Flanking Active TSS | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 2 | rs376666931 | chr12:50759436-50759437 | Flanking Active TSS | Chromatin interactive regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs148080117 | chr12:50759437-50759438 | Flanking Active TSS | Chromatin interactive regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:68)
| 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 |
| T-cell prolymphocytic leukemia | 19278963 | 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 |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Lissencephaly | 21572526 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Melanoma | 18172304 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| liposarcomas | 17372913 | CNVD |
| Non-small cell lung cancer | 24170126 | CNVD |
| Cancer | 16751803 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Breast cancer | 17661082 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 21785460 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Intracranial ependymoma | 16609018 | CNVD |
| Cancer | 17160897 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:50759200-50759600 | Flanking Active TSS | K562 | blood |
