Variant report
| Variant | nsv889934 |
|---|---|
| Chromosome Location | chr8:4019462-4045689 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr8:4010079..4014350-chr8:4015920..4019883,4 | K562 | blood: |
| 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 | rs569829870 | chr8:4024403-4024404 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs536683733 | chr8:4024417-4024418 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs554958716 | chr8:4024418-4024419 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs573274251 | chr8:4024431-4024432 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs534414996 | chr8:4024440-4024441 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs189694665 | chr8:4024461-4024462 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs578153337 | chr8:4024470-4024471 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs545267934 | chr8:4024481-4024482 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs564034827 | chr8:4024486-4024487 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs575830424 | chr8:4024506-4024507 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs543306364 | chr8:4024524-4024525 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs561273163 | chr8:4024549-4024550 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs181087010 | chr8:4024554-4024555 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs185130605 | chr8:4024567-4024568 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs373156142 | chr8:4024569-4024570 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs376332767 | chr8:4024577-4024578 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs533182898 | chr8:4024583-4024584 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs551272038 | chr8:4024584-4024585 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs569798382 | chr8:4024612-4024613 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs115907927 | chr8:4024615-4024616 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs189554936 | chr8:4024616-4024617 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs183246073 | chr8:4024621-4024622 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs187406051 | chr8:4024626-4024627 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs118083522 | chr8:4024632-4024633 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs192249028 | chr8:4024643-4024644 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs570461016 | chr8:4024647-4024648 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs539252702 | chr8:4024658-4024659 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs553607101 | chr8:4024664-4024665 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs183559800 | chr8:4024677-4024678 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs373560617 | chr8:4024687-4024688 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs376937018 | chr8:4024692-4024693 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs386721251 | chr8:4024706-4024707 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs188555283 | chr8:4024714-4024715 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs74887665 | chr8:4024716-4024717 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs573324456 | chr8:4024718-4024719 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs540243514 | chr8:4024723-4024724 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs565413437 | chr8:4024728-4024729 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs369714131 | chr8:4024734-4024735 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs77578630 | chr8:4024742-4024743 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs544666468 | chr8:4024749-4024750 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs563340682 | chr8:4024751-4024752 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs74952822 | chr8:4024753-4024754 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs118003545 | chr8:4024761-4024762 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs148568475 | chr8:4024766-4024767 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs11780496 | chr8:4024767-4024768 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs571843201 | chr8:4024771-4024772 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs528101983 | chr8:4024772-4024773 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs191837021 | chr8:4024779-4024780 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs182531337 | chr8:4024796-4024797 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs538374233 | chr8:4024797-4024798 | Enhancers | 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 |
| 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 |
| Pancreatic ductal adenocarcinoma | 19077451 | 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 |
| Ependymoma | 20639864 | CNVD |
| Schizophrenia | 21346763 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:4024400-4025000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 2 | chr8:4024400-4025000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 3 | chr8:4024600-4025000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 4 | chr8:4026400-4027200 | Enhancers | HepG2 | liver |
| 5 | chr8:4028400-4028600 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 6 | chr8:4028400-4028600 | Enhancers | Pancreas | Pancrea |
| 7 | chr8:4031400-4031600 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
