Variant report
| Variant | nsv348136 |
|---|---|
| Chromosome Location | chr6:132015999-132016008 |
| 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 | chr6:131965455..131967671-chr6:132014535..132016282,2 | K562 | blood: | |
| 2 | chr6:132015065..132016761-chr6:132065945..132068393,2 | K562 | blood: | |
| 3 | chr6:132007332..132009041-chr6:132015162..132016904,2 | K562 | blood: | |
| 4 | chr6:132015771..132016655-chr6:132243782..132245174,3 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs200935139 | chr6:132015999-132016000 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs201094056 | chr6:132016002-132016003 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs111442148 | chr6:132016006-132016007 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs111537943 | chr6:132016007-132016008 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs143896726 | chr6:132016008-132016009 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:80)
| 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 |
| Autism | 22495311 | 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 |
| Melanoma | 18172304 | CNVD |
| Cancer | 21637783 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Gastric cancer | 17908304 | 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 |
| Breast cancer | 16272173 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | 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 |
| Lung adenocarcinoma | 21935476 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Chondromyxoid Fibroma | 20696777 | CNVD |
| Cancer | 21183584 | CNVD |
| Developmental delay | 19490664 | CNVD |
| Non-muscle invasive bladder neoplasm | 19445696 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Kartagener syndrome | 16639409 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Follicular lymphoma | 18703704 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Leukemia | 18688285 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:131993600-132020600 | Weak transcription | Rectal Mucosa Donor 29 | rectum |
| 2 | chr6:131998600-132054000 | Weak transcription | Fetal Intestine Small | intestine |
| 3 | chr6:131998800-132043000 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
| 4 | chr6:131999200-132017600 | Weak transcription | Fetal Intestine Large | intestine |
| 5 | chr6:131999400-132020600 | Weak transcription | Sigmoid Colon | Sigmoid Colon |
| 6 | chr6:132002600-132054400 | Weak transcription | K562 | blood |
| 7 | chr6:132012200-132017400 | Weak transcription | Fetal Adrenal Gland | Adrenal Gland |
| 8 | chr6:132013600-132016200 | Enhancers | Primary B cells from cord blood | blood |
| 9 | chr6:132014600-132016000 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 10 | chr6:132014600-132019400 | Strong transcription | HepG2 | liver |
| 11 | chr6:132015200-132018400 | Weak transcription | H9 Cell Line | embryonic stem cell |
