Variant report
| Variant | esv12341 |
|---|---|
| Chromosome Location | chr6:80461435-80476237 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr6:80472166..80472697-chr6:80523383..80524280,2 | K562 | blood: | |
| 2 | chr6:80471814..80472343-chr6:80803616..80804186,2 | MCF-7 | breast: | |
| 3 | chr6:80471735..80472653-chr6:80523715..80524291,2 | MCF-7 | breast: | |
| 4 | chr6:80465546..80468077-chr6:80483987..80486479,2 | MCF-7 | breast: |
| 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 | rs9443701 | chr6:80461450-80461451 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs373633274 | chr6:80461466-80461467 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs181283119 | chr6:80461485-80461486 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs559852154 | chr6:80461499-80461500 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs530371915 | chr6:80461535-80461536 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs79182235 | chr6:80461590-80461591 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs77416760 | chr6:80464809-80464810 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs367897886 | chr6:80464810-80464811 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs531974123 | chr6:80464899-80464900 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs533021759 | chr6:80464939-80464940 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs185505872 | chr6:80464973-80464974 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs9448787 | chr6:80464995-80464996 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs551649543 | chr6:80465027-80465028 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs535067486 | chr6:80465049-80465050 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs548583973 | chr6:80465103-80465104 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs144145942 | chr6:80465198-80465199 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs534988217 | chr6:80465207-80465208 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs188813190 | chr6:80465249-80465250 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs578114939 | chr6:80465267-80465268 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs537290094 | chr6:80465285-80465286 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs146018824 | chr6:80465290-80465291 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs574068313 | chr6:80465301-80465302 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs562416235 | chr6:80465306-80465307 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs543017274 | chr6:80465364-80465365 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs559790086 | chr6:80465404-80465405 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs75528323 | chr6:80465452-80465453 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs541324401 | chr6:80465480-80465481 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs371832032 | chr6:80465523-80465524 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs369939978 | chr6:80465534-80465535 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs112325986 | chr6:80465562-80465563 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs564271671 | chr6:80465580-80465581 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs565971402 | chr6:80465593-80465594 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs193294140 | chr6:80465594-80465595 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs543286608 | chr6:80465630-80465631 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs113589179 | chr6:80465652-80465653 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs113047415 | chr6:80465659-80465660 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs34288615 | chr6:80465698-80465699 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs528976437 | chr6:80465699-80465700 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs374037107 | chr6:80465708-80465709 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs368025974 | chr6:80465718-80465719 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs113674045 | chr6:80465729-80465730 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs113487837 | chr6:80465730-80465731 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs554247330 | chr6:80465731-80465732 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs574192750 | chr6:80465739-80465740 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs2144190 | chr6:80465754-80465755 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 46 | rs548522359 | chr6:80465765-80465766 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs372171474 | chr6:80465800-80465801 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs111857326 | chr6:80465802-80465803 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs62411103 | chr6:80465803-80465804 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs528114233 | chr6:80465852-80465853 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:107)
| 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 |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Autism | 22495311 | 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 |
| Acute lymphoblastic leukemia | 17443227 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| lymphocytic leukemia | 21291569 | 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 |
| Ductal carcinoma | 22052326 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| Acute lymphoblastic leukemia | 17640729 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:80460400-80461600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 2 | chr6:80460600-80461600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 3 | chr6:80460800-80461600 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 4 | chr6:80464800-80466800 | Enhancers | HUVEC | blood vessel |
| 5 | chr6:80465000-80465200 | Enhancers | Osteobl | bone |
| 6 | chr6:80466800-80467800 | Weak transcription | HUVEC | blood vessel |
| 7 | chr6:80468000-80468200 | Enhancers | HUVEC | blood vessel |
| 8 | chr6:80474600-80474800 | Enhancers | Esophagus | oesophagus |
| 9 | chr6:80474800-80475000 | Bivalent Enhancer | Esophagus | oesophagus |
| 10 | chr6:80474800-80475600 | ZNF genes & repeats | Pancreas | Pancrea |
| 11 | chr6:80475000-80475400 | ZNF genes & repeats | Esophagus | oesophagus |
