Variant report
| Variant | nsv1020799 |
|---|---|
| Chromosome Location | chr8:3158741-3170812 |
| 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 |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs529618150 | chr8:3162628-3162629 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs541806515 | chr8:3162660-3162661 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs560232282 | chr8:3162665-3162666 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs527367269 | chr8:3162680-3162681 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs181034365 | chr8:3162693-3162694 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs186318008 | chr8:3162697-3162698 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs189542340 | chr8:3162700-3162701 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs1503276 | chr8:3162736-3162737 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs78140917 | chr8:3162737-3162738 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs563085683 | chr8:3162748-3162749 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs549770396 | chr8:3162755-3162756 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs375606157 | chr8:3162768-3162769 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs568343602 | chr8:3162774-3162775 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs143908711 | chr8:3162775-3162776 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs181437818 | chr8:3162777-3162778 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs565768643 | chr8:3162781-3162782 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs113581306 | chr8:3162803-3162804 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs149223313 | chr8:3162822-3162823 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs368054402 | chr8:3162823-3162824 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs539524044 | chr8:3162832-3162833 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs557851471 | chr8:3162892-3162893 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs576195376 | chr8:3162902-3162903 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs537661302 | chr8:3162928-3162929 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs555731330 | chr8:3163016-3163017 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs533612070 | chr8:3163022-3163023 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs368727290 | chr8:3163031-3163032 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs541575427 | chr8:3163035-3163036 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs371686920 | chr8:3163057-3163058 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs546767412 | chr8:3163062-3163063 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs574267636 | chr8:3163072-3163073 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs73502000 | chr8:3163075-3163076 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 32 | rs560170845 | chr8:3163089-3163090 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs74304347 | chr8:3163156-3163157 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs112775940 | chr8:3163171-3163172 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs545882800 | chr8:3163175-3163176 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs146863575 | chr8:3163180-3163181 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs367986593 | chr8:3163190-3163191 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs186118185 | chr8:3163199-3163200 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs34222614 | chr8:3163214-3163215 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 40 | rs190796022 | chr8:3163226-3163227 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs529168755 | chr8:3163228-3163229 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs569998433 | chr8:3163229-3163230 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs377052841 | chr8:3163237-3163238 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs565707279 | chr8:3163238-3163239 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs114775627 | chr8:3163248-3163249 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs182984063 | chr8:3163255-3163256 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs559392151 | chr8:3163264-3163265 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs186674125 | chr8:3163265-3163266 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs574181543 | chr8:3163272-3163273 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs111726138 | chr8:3163275-3163276 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:127)
| Disease | PMID | Source |
|---|---|---|
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| abnormal development | 18461090 | CNVD |
| Crohn''s disease | 19220326 | CNVD |
| Psoriasis | 19220326 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Prostate cancer | 18515986 | CNVD |
| Chronic obstructive pulmonary disease | 20378733 | CNVD |
| Autism | 18414403 | CNVD |
| Cancer | 21183584 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Cervical cancer | 17311676 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Schizophrenia | 20877625 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Heart disease | 21282601 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Colorectal cancer | 21297112 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Melanoma | 18172304 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Chronic lymphocytic leukemia | 18922857 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Cancer | 21637783 | CNVD |
| Breast cancer | 20837533 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Cancer | 22429812 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Prostate cancer | 21088497 | CNVD |
| Breast cancer | 20940404 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Gastric cancer | 17167181 | CNVD |
| Prostate cancer | 16705090 | CNVD |
| 8p-syndrome | 17576883 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Lung adenocarcinoma | 19525976 | CNVD |
| Lung cancer | 19525976 | CNVD |
| Prostate cancer | 17245344 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Cancer | 16751803 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Gastric cancer | 17908304 | 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 |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| Cancer | 20164919 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Ductal carcinoma | 22052326 | CNVD |
| Breast cancer | 21509527 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Epilepsy | 22083797 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 21858162 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Autism | 22495311 | CNVD |
| Congenital diaphragmatic hernia | 21064195 | CNVD |
| Ovarian cancer | 22355333 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Cancer | 20164920 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Esophageal squamous carcinoma | 18405350 | CNVD |
| Prostate cancer | 17217626 | CNVD |
| Developmental delay | 19128483 | CNVD |
| Neuroticism | 17667963 | CNVD |
| Leukoplakia | 24403051 | CNVD |
| Intellectual disability | 22045946 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Seminomas | 18059402 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Schizophrenia | 19805367 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Colorectal cancer | 22014273 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| Osteosarcoma | 21215367 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:3162600-3164600 | Weak transcription | Brain Anterior Caudate | brain |
| 2 | chr8:3163600-3166000 | Weak transcription | Brain Dorsolateral Prefrontal Cortex | brain |
| 3 | chr8:3164600-3165400 | ZNF genes & repeats | Brain Anterior Caudate | brain |
| 4 | chr8:3165000-3165200 | Weak transcription | Brain Substantia Nigra | brain |
| 5 | chr8:3165200-3165400 | ZNF genes & repeats | Brain Substantia Nigra | brain |
| 6 | chr8:3165400-3166800 | Weak transcription | Brain Substantia Nigra | brain |
| 7 | chr8:3165800-3166000 | Enhancers | Fetal Brain Male | brain |
| 8 | chr8:3167000-3167400 | Enhancers | Fetal Kidney | kidney |
| 9 | chr8:3167400-3167600 | Weak transcription | Fetal Kidney | kidney |
| 10 | chr8:3167600-3168000 | Enhancers | Fetal Kidney | kidney |
| 11 | chr8:3167800-3168400 | Enhancers | Fetal Brain Male | brain |
| 12 | chr8:3168000-3172400 | Weak transcription | Fetal Kidney | kidney |
