Variant report
| Variant | nsv976276 |
|---|---|
| Chromosome Location | chr13:63206566-63222997 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:3)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
(count:3 , 50 per page) page:
1
| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-PCDH20-17 | chr13:63210043-63210152 | NONHSAT034148 |
| 2 | lnc-AL445989.1-23 | chr13:63220133-63220531 | NONHSAT034150 |
| 3 | lnc-AL445989.1-23 | chr13:63222838-63223214 | NONHSAT034150 |
| No data |
| No data |
| No data |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs565322854 | chr13:63210079-63210080 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 2 | rs568448595 | chr13:63210113-63210114 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 3 | rs373227489 | chr13:63210135-63210136 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 4 | rs531129601 | chr13:63210151-63210152 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 5 | rs532914591 | chr13:63212403-63212404 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs138510500 | chr13:63212416-63212417 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs564316174 | chr13:63212419-63212420 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs9592199 | chr13:63212474-63212475 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs570853187 | chr13:63212532-63212533 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs144102897 | chr13:63212597-63212598 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs550200023 | chr13:63212608-63212609 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs192863775 | chr13:63212624-63212625 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs540418160 | chr13:63212630-63212631 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs185242765 | chr13:63212638-63212639 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs190090469 | chr13:63212679-63212680 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs532736334 | chr13:63212681-63212682 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs150193707 | chr13:63212687-63212688 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs566170086 | chr13:63212742-63212743 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs539130005 | chr13:63212778-63212779 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs557469896 | chr13:63212793-63212794 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs559855656 | chr13:63212811-63212812 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs377337638 | chr13:63212813-63212814 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs117126706 | chr13:63212824-63212825 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs181938015 | chr13:63212825-63212826 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs148363519 | chr13:63212853-63212854 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs573852497 | chr13:63212917-63212918 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs141457758 | chr13:63212935-63212936 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs9539534 | chr13:63212999-63213000 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 29 | rs9539535 | chr13:63213046-63213047 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs577955107 | chr13:63213047-63213048 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs546314926 | chr13:63213062-63213063 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs543489771 | chr13:63213071-63213072 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs564523170 | chr13:63213082-63213083 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs531849585 | chr13:63213124-63213125 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs372590284 | chr13:63213155-63213156 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs550111500 | chr13:63213227-63213228 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs372517549 | chr13:63213308-63213309 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs375176331 | chr13:63213326-63213327 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs529569484 | chr13:63213336-63213337 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs73192360 | chr13:63213400-63213401 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 41 | rs1353855 | chr13:63213512-63213513 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 42 | rs571123548 | chr13:63213559-63213560 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs563313178 | chr13:63213594-63213595 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs185094996 | chr13:63213642-63213643 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs117017330 | chr13:63213684-63213685 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs551569760 | chr13:63213719-63213720 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs569378492 | chr13:63213726-63213727 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs536771933 | chr13:63213728-63213729 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs547203551 | chr13:63213748-63213749 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs555322307 | chr13:63213779-63213780 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:97)
| Disease | PMID | Source |
|---|---|---|
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| HIV/AIDS | 22032296 | CNVD |
| Prostate cancer | 16705090 | CNVD |
| High-proliferative meningiomas | 17937814 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Cancer | 20164919 | CNVD |
| Autism | 22495311 | CNVD |
| Chordoma | 21602918 | CNVD |
| Bladder cancer | 21949216 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Cancer | 21637783 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Chronic lymphocytic leukemia | 21518781 | CNVD |
| colon cancer | 17210682 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Intracranial aneurysm | 19064780 | CNVD |
| Breast cancer | 19287154 | CNVD |
| Acute myeloid leukemia | 18379011 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Myoepithelioma | 18604193 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Paraganglioma | 21461997 | CNVD |
| Pheochromocytoma | 21461997 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Prostate cancer | 17245344 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Colorectal cancer | 21586687 | CNVD |
| Small bowel adenocarcinoma | 21586687 | CNVD |
| Retinoblastoma | 19183342 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Melanoma | 18172304 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Merkel cell carcinoma | 19020549 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Glioblastoma multiforme | 21922591 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Glioblastoma multiforme | 21750150 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Cancer | 21183584 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Splenic marginal zone lymphoma | 18492102 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| abnormal development | 18461090 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Anaplastic thyroid cancer | 18753363 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Schizophrenia | 20967226 | CNVD |
| Schizophrenia | 21346763 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:63212400-63212600 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
| 2 | chr13:63212600-63213000 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 3 | chr13:63213000-63217000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 4 | chr13:63217800-63219200 | Enhancers | GM12878-XiMat | blood |
| 5 | chr13:63218000-63218400 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 6 | chr13:63218000-63218600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 7 | chr13:63218000-63218600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 8 | chr13:63218200-63218800 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 9 | chr13:63218400-63218600 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
