Variant report
| Variant | nsv463164 |
|---|---|
| Chromosome Location | chr6:77315788-77322488 |
| 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 |
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs566386959 | chr6:77316817-77316818 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs535442651 | chr6:77316847-77316848 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs187956292 | chr6:77316854-77316855 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs376925479 | chr6:77316909-77316910 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs546604427 | chr6:77317004-77317005 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs548165159 | chr6:77317022-77317023 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs566463100 | chr6:77317035-77317036 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs148157847 | chr6:77317081-77317082 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs57197985 | chr6:77317084-77317085 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs200454108 | chr6:77317090-77317091 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs201206727 | chr6:77317091-77317092 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs192261649 | chr6:77317101-77317102 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs527327710 | chr6:77317104-77317105 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs143155902 | chr6:77317125-77317126 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs1457971 | chr6:77317134-77317135 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 16 | rs538821794 | chr6:77317141-77317142 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs557552033 | chr6:77317146-77317147 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs568965552 | chr6:77317202-77317203 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs1457970 | chr6:77317206-77317207 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 20 | rs116566807 | chr6:77317261-77317262 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs117045955 | chr6:77317299-77317300 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs540652470 | chr6:77317305-77317306 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs184597678 | chr6:77317359-77317360 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs377365004 | chr6:77317378-77317379 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs112119679 | chr6:77317380-77317381 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs536079551 | chr6:77317421-77317422 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs56763739 | chr6:77317426-77317427 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs544028401 | chr6:77317445-77317446 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs1457969 | chr6:77317457-77317458 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 30 | rs56339799 | chr6:77317605-77317606 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs147049691 | chr6:77317606-77317607 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs138301939 | chr6:77317608-77317609 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs543995836 | chr6:77317640-77317641 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs574105455 | chr6:77317651-77317652 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs189567498 | chr6:77317655-77317656 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs1457968 | chr6:77317683-77317684 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 37 | rs565410563 | chr6:77317694-77317695 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs532845158 | chr6:77317712-77317713 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs149552980 | chr6:77317720-77317721 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs569100119 | chr6:77317746-77317747 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs144402483 | chr6:77317812-77317813 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs548257702 | chr6:77317856-77317857 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs58431895 | chr6:77317874-77317875 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs533908696 | chr6:77317907-77317908 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs181573926 | chr6:77317917-77317918 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs112308554 | chr6:77317967-77317968 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs74369183 | chr6:77318067-77318068 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs113770946 | chr6:77318114-77318115 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs141566695 | chr6:77318117-77318118 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs542079229 | chr6:77318128-77318129 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:98)
| Disease | PMID | Source |
|---|---|---|
| Uveal melanoma | 21693616 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Autism | 21448237 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Autism | 22495311 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Biliary cancer | 20360734 | CNVD |
| Breast cancer | 20360734 | CNVD |
| Coronary artery disease | 20360734 | CNVD |
| Crohn''s disease | 20360734 | CNVD |
| Hypertension | 20360734 | CNVD |
| Rheumatoid arthritis | 20360734 | CNVD |
| Type 1 diabetes | 20360734 | CNVD |
| Type 2 diabetes | 20360734 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Systemic lupus erythematosus | 17503323 | CNVD |
| Melanoma | 18172304 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Cancer | 21637783 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute lymphoblastic leukemia | 17443227 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Follicular lymphoma | 19010834 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Phyllodes tumor | 17334353 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Non-small cell lung cancer | 21385341 | CNVD |
| Prostate cancer | 16705090 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Ependymoma | 16718352 | CNVD |
| High-proliferative meningiomas | 17937814 | CNVD |
| Intracranial tumor | 16823260 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Breast cancer | 16272173 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Urothelial carcinoma | 18382360 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Follicular lymphoma | 17699855 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Leukemia | 18688285 | CNVD |
| Prostate cancer | 19242612 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Glioma | 21046410 | CNVD |
| Primary central nervous system lymphoma | 21088137 | CNVD |
| Zellweger syndrome | 21572526 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Malignant melanoma | 18718029 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Lung adenocarcinoma | 21935476 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Lung cancer | 16773561 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Mental retardation | 21045960 | CNVD |
| Obesity | 21045960 | CNVD |
| learning difficulties | 21045960 | CNVD |
| Prostate cancer | 17245344 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Cancer | 20164920 | CNVD |
| Burkitt''s lymphoma | 20823134 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:77316800-77322400 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 2 | chr6:77318600-77318800 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
| 3 | chr6:77318800-77319000 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
| 4 | chr6:77318800-77319200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 5 | chr6:77319000-77320200 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 6 | chr6:77319000-77320800 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
| 7 | chr6:77319200-77319400 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
| 8 | chr6:77319400-77326200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 9 | chr6:77320200-77320400 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
| 10 | chr6:77320800-77321000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 11 | chr6:77321000-77321400 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
| 12 | chr6:77321400-77322400 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 13 | chr6:77321400-77323200 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 14 | chr6:77321600-77322200 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 15 | chr6:77322200-77322600 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 16 | chr6:77322200-77323200 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 17 | chr6:77322200-77323400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 18 | chr6:77322200-77323400 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 19 | chr6:77322400-77322800 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 20 | chr6:77322400-77323000 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 21 | chr6:77322400-77323000 | Flanking Active TSS | iPS-20b Cell Line | embryonic stem cell |
| 22 | chr6:77322400-77323200 | Enhancers | HUES6 Cell Line | embryonic stem cell |
