Variant report
| Variant | esv3382848 |
|---|---|
| Chromosome Location | chr13:63215000-63237399 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:2)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
(count:2 , 50 per page) page:
1
| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-AL445989.1-23 | chr13:63222838-63223214 | NONHSAT034150 |
| 2 | lnc-AL445989.1-23 | chr13:63220133-63220531 | NONHSAT034150 |
| No data |
| No data |
| No data |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs564847281 | chr13:63215001-63215002 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs538919236 | chr13:63215016-63215017 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs542279079 | chr13:63215020-63215021 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs190809001 | chr13:63215138-63215139 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs531159101 | chr13:63215235-63215236 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs74085524 | chr13:63215257-63215258 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs536013173 | chr13:63215282-63215283 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs111257193 | chr13:63215305-63215306 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs182659034 | chr13:63215311-63215312 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs528752736 | chr13:63215322-63215323 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs568999642 | chr13:63215361-63215362 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs187747566 | chr13:63215373-63215374 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs564663527 | chr13:63215395-63215396 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs9539536 | chr13:63215462-63215463 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs547240473 | chr13:63215468-63215469 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs548217963 | chr13:63215585-63215586 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs192731062 | chr13:63215614-63215615 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs563595309 | chr13:63215622-63215623 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs531248203 | chr13:63215715-63215716 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs199846976 | chr13:63215717-63215718 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs561551178 | chr13:63215724-63215725 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs567036235 | chr13:63215742-63215743 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs566745873 | chr13:63215746-63215747 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs184701812 | chr13:63215775-63215776 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs58731970 | chr13:63215792-63215793 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs546751882 | chr13:63215806-63215807 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs529416484 | chr13:63215856-63215857 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs571252025 | chr13:63215899-63215900 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs142174616 | chr13:63215976-63215977 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs577566681 | chr13:63215980-63215981 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs534179385 | chr13:63215992-63215993 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs369815071 | chr13:63216018-63216019 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs557025629 | chr13:63216040-63216041 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs569023858 | chr13:63216098-63216099 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs536569499 | chr13:63216137-63216138 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs569330877 | chr13:63216165-63216166 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs117306747 | chr13:63216169-63216170 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs566694310 | chr13:63216191-63216192 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs187137135 | chr13:63216247-63216248 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs58798908 | chr13:63216283-63216284 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs192309781 | chr13:63216298-63216299 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs115036583 | chr13:63216301-63216302 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs556949914 | chr13:63216335-63216336 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs184461373 | chr13:63216346-63216347 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs551713816 | chr13:63216399-63216400 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs80119835 | chr13:63216444-63216445 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs573424114 | chr13:63216474-63216475 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs189564070 | chr13:63216510-63216511 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs564926023 | chr13:63216525-63216526 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs147572668 | chr13:63216587-63216588 | 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 |
| Autism | 20531469 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:63213000-63217000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 2 | chr13:63217800-63219200 | Enhancers | GM12878-XiMat | blood |
| 3 | chr13:63218000-63218400 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 4 | chr13:63218000-63218600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 5 | chr13:63218000-63218600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 6 | chr13:63218200-63218800 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 7 | chr13:63218400-63218600 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 8 | chr13:63231200-63231600 | Active TSS | Spleen | Spleen |
| 9 | chr13:63235400-63235800 | Enhancers | Fetal Heart | heart |
| 10 | chr13:63236000-63237400 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 11 | chr13:63236800-63238000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 12 | chr13:63237200-63238000 | Enhancers | HUES64 Cell Line | embryonic stem cell |
