Variant report
| Variant | nsv611571 |
|---|---|
| Chromosome Location | chr8:79180452-79185503 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs35583505 | chr8:79182469-79182470 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs573381611 | chr8:79182477-79182478 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs540900720 | chr8:79182514-79182515 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs565475159 | chr8:79182555-79182556 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs575919680 | chr8:79182567-79182568 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs147783123 | chr8:79182632-79182633 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs544153915 | chr8:79182665-79182666 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs529483055 | chr8:79182675-79182676 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs189276600 | chr8:79182683-79182684 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs530098740 | chr8:79182711-79182712 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs34500915 | chr8:79182723-79182724 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs143098044 | chr8:79182758-79182759 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs560271414 | chr8:79182771-79182772 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs527526016 | chr8:79182855-79182856 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs552435750 | chr8:79182896-79182897 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs2116069 | chr8:79182913-79182914 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs186566356 | chr8:79182922-79182923 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs549759762 | chr8:79182944-79182945 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs568080703 | chr8:79182960-79182961 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs535517023 | chr8:79182989-79182990 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs535134399 | chr8:79183093-79183094 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs553614904 | chr8:79183098-79183099 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs189445209 | chr8:79183116-79183117 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs556695934 | chr8:79183141-79183142 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs575236616 | chr8:79183144-79183145 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs545481506 | chr8:79183215-79183216 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs376836020 | chr8:79183221-79183222 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs11989300 | chr8:79183267-79183268 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs544612743 | chr8:79183279-79183280 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs564830939 | chr8:79183308-79183309 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs577082752 | chr8:79183310-79183311 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:103)
| Disease | PMID | Source |
|---|---|---|
| Wilms tumour | 21544195 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Melanoma | 18172304 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Autism | 19415332 | CNVD |
| Malaria | 21533027 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Breast cancer | 21245420 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| Seminomas | 18059402 | CNVD |
| Autism | 22495311 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Pancreatic cancer | 21811587 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| Cancer | 20164919 | CNVD |
| primary effusion lymphomas | 17116491 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| abnormal development | 18461090 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Langer-Giedion syndrome | 22283845 | CNVD |
| Cancer | 21637783 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Breast cancer | 20632083 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Cancer | 22429812 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Oral cancer | 19627613 | CNVD |
| Prostate cancer | 21088497 | CNVD |
| colon cancer | 17210682 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Breast cancer | 22028636 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 16751803 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Gastric cancer | 17167181 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| head and neck squamous cell carcinoma | 18028549 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Hepatocellular carcinoma | 18803288 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Melanoma | 22183965 | CNVD |
| Cancer | 21949371 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Acute myeloid leukemia | 21358987 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Adenocarcinoma | 21044232 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Sezary syndrome | 18413736 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Breast cancer | 21399628 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Colorectal cancer | 19455253 | CNVD |
| Bladder cancer | 19088036 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Breast cancer | 21990379 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:79182400-79183400 | Active TSS | Fetal Heart | heart |
