Variant report
| Variant | esv3418975 |
|---|---|
| Chromosome Location | chr6:129058449-129058658 |
| 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 |
| No data |
Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs192779231 | chr6:129058451-129058452 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs543907024 | chr6:129058458-129058459 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs369031269 | chr6:129058476-129058477 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs376048650 | chr6:129058478-129058479 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs386705728 | chr6:129058509-129058510 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs4897275 | chr6:129058510-129058511 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs374512678 | chr6:129058512-129058513 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs377404066 | chr6:129058513-129058514 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs142391848 | chr6:129058539-129058540 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs192098935 | chr6:129058551-129058552 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs200686648 | chr6:129058581-129058582 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs12524140 | chr6:129058583-129058584 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs527548541 | chr6:129058601-129058602 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs200607232 | chr6:129058635-129058636 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:96)
| 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 |
| 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 |
| Melanoma | 18172304 | CNVD |
| Cancer | 21637783 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | 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 |
| Breast cancer | 16272173 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Urothelial carcinoma | 18382360 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Prostate cancer | 19242612 | 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 |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Neurocytoma | 17123091 | CNVD |
| Chordoma | 21602918 | CNVD |
| Kartagener syndrome | 16639409 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Follicular lymphoma | 18703704 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Metastatic melanoma | 18483359 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Leukemia | 18688285 | CNVD |
| Ependymoma | 18628472 | CNVD |
| Ewing''s sarcoma | 18628472 | CNVD |
| Leukemia | 18628472 | CNVD |
| Breast cancer | 21958427 | CNVD |
| Mental retardation | 17847001 | CNVD |
| Cancer | 17440070 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Cancer | 20164919 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:129045200-129062000 | Weak transcription | H1 Cell Line | embryonic stem cell |
| 2 | chr6:129056200-129058600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 3 | chr6:129058000-129058600 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 4 | chr6:129058000-129058600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 5 | chr6:129058000-129058600 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 6 | chr6:129058200-129059200 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 7 | chr6:129058400-129064000 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 8 | chr6:129058400-129064000 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
| 9 | chr6:129058400-129065800 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 10 | chr6:129058600-129061600 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 11 | chr6:129058600-129062200 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
| 12 | chr6:129058600-129063800 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
