Variant report
| Variant | nsv961222 |
|---|---|
| Chromosome Location | chr19:43123367-43124155 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr19:43118862..43121094-chr19:43122600..43124613,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:23 , 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 | rs577231170 | chr19:43123407-43123408 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs192723250 | chr19:43123421-43123422 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs559823773 | chr19:43123524-43123525 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs573095265 | chr19:43123608-43123609 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs542059387 | chr19:43123629-43123630 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs113600732 | chr19:43123684-43123685 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs562004226 | chr19:43123715-43123716 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs531112728 | chr19:43123732-43123733 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs549723853 | chr19:43123748-43123749 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs143048648 | chr19:43123762-43123763 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs532168968 | chr19:43123802-43123803 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs183584833 | chr19:43123816-43123817 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs187933275 | chr19:43123834-43123835 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs28545051 | chr19:43123858-43123859 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs548415983 | chr19:43123873-43123874 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs148183075 | chr19:43123886-43123887 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs77305822 | chr19:43123898-43123899 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs542765566 | chr19:43123918-43123919 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs192400322 | chr19:43124001-43124002 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs557254301 | chr19:43124006-43124007 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs577143913 | chr19:43124020-43124021 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs539865798 | chr19:43124038-43124039 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs553041209 | chr19:43124066-43124067 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:62)
| Disease | PMID | Source |
|---|---|---|
| Myelodysplastic syndrome | 17634407 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Chordoma | 21602918 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Cancer | 21637783 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Cancer | 20164919 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Autism | 22495311 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Ductal carcinoma | 22052326 | CNVD |
| Congenital nephrotic syndrome | 18421352 | CNVD |
| Astrocytoma | 17934521 | CNVD |
| Leukemia | 17361228 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Glioma | 21971842 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| renal disease | 20603712 | CNVD |
| Salivary gland adenoid cystic carcinoma | 17545515 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Invasive pancreatic ductal carcinoma | 18765526 | CNVD |
| Rhabdomyosarcoma | 16790082 | CNVD |
| Chordoma | 18071362 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Gastric cancer | 18160780 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Basal cell lymphoma | 19029149 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Diffuse large b-cell lymphoma | 19029149 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Ovarian clear cell carcinoma | 19293255 | CNVD |
| Astrocytoma | 22246337 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Breast cancer | 21509527 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr19:43118400-43135400 | Weak transcription | Adipose Nuclei | Adipose |
