Variant report
| Variant | nsv972204 |
|---|---|
| Chromosome Location | chr8:4666465-4685737 |
| 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 |
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs569304368 | chr8:4666476-4666477 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs535239773 | chr8:4666477-4666478 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs181021448 | chr8:4666480-4666481 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs74663638 | chr8:4666493-4666494 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs545248758 | chr8:4666500-4666501 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs562990431 | chr8:4666501-4666502 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs555546603 | chr8:4666507-4666508 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs574884531 | chr8:4666511-4666512 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs146332855 | chr8:4666519-4666520 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs79534916 | chr8:4666520-4666521 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs539842308 | chr8:4666526-4666527 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs546783479 | chr8:4666532-4666533 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs373181057 | chr8:4666546-4666547 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs532498570 | chr8:4666547-4666548 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs375827723 | chr8:4666562-4666563 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs550886556 | chr8:4666570-4666571 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs139197713 | chr8:4666575-4666576 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs551757386 | chr8:4666580-4666581 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs542534379 | chr8:4666598-4666599 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs76204456 | chr8:4666615-4666616 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs537423180 | chr8:4666651-4666652 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs17071459 | chr8:4666654-4666655 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 23 | rs567762235 | chr8:4666666-4666667 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs567210376 | chr8:4666678-4666679 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs553531754 | chr8:4666686-4666687 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs571503741 | chr8:4666687-4666688 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs538986751 | chr8:4666696-4666697 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs185363401 | chr8:4666699-4666700 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs17071462 | chr8:4666701-4666702 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 30 | rs188174188 | chr8:4666707-4666708 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs554226705 | chr8:4666708-4666709 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs369989635 | chr8:4666718-4666719 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs572898558 | chr8:4666742-4666743 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs148125368 | chr8:4666748-4666749 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs141886449 | chr8:4666775-4666776 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs577204595 | chr8:4666784-4666785 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs181930294 | chr8:4666792-4666793 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs150571142 | chr8:4666799-4666800 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs562795103 | chr8:4666815-4666816 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs186300987 | chr8:4666841-4666842 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs539860278 | chr8:4666843-4666844 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs139555610 | chr8:4666854-4666855 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs192041133 | chr8:4666855-4666856 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs546769192 | chr8:4666873-4666874 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs144534158 | chr8:4666902-4666903 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs538826419 | chr8:4666916-4666917 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs373508952 | chr8:4666926-4666927 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs534492564 | chr8:4666954-4666955 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs569219551 | chr8:4666977-4666978 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs147421122 | chr8:4666998-4666999 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:125)
| 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 |
| 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 |
| 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 |
| Colorectal cancer | 16774939 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Colorectal cancer | 22014273 | CNVD |
| Lung squamous cell carcinoma | 22363434 | CNVD |
| Cancer | 20164919 | CNVD |
| Non-syndromic sensorineural hearing loss | 17289997 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Chronic myeloid leukemia | 21384125 | CNVD |
| Tetralogy of Fallot | 22912587 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:4658400-4670600 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 2 | chr8:4668000-4668200 | Enhancers | Fetal Brain Male | brain |
| 3 | chr8:4668200-4669600 | Weak transcription | Fetal Brain Male | brain |
| 4 | chr8:4669400-4669800 | Active TSS | Brain Angular Gyrus | brain |
| 5 | chr8:4669400-4670000 | Active TSS | Brain Substantia Nigra | brain |
| 6 | chr8:4669600-4670000 | Enhancers | Fetal Brain Male | brain |
| 7 | chr8:4670000-4671600 | Weak transcription | Fetal Brain Male | brain |
| 8 | chr8:4671600-4672000 | Enhancers | Fetal Brain Male | brain |
| 9 | chr8:4681200-4693800 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
| 10 | chr8:4684600-4685200 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 11 | chr8:4684800-4685200 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 12 | chr8:4685000-4685200 | Enhancers | HUES48 Cell Line | embryonic stem cell |
