Variant report
| Variant | nsv522380 |
|---|---|
| Chromosome Location | chr14:40717843-40731102 |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr14:40721840..40722668-chr15:81828412..81828932,3 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs1950223 | chr14:40717843-40717844 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs574945540 | chr14:40717844-40717845 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs543987810 | chr14:40717865-40717866 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs186963696 | chr14:40717896-40717897 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs370334582 | chr14:40717930-40717931 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs546300981 | chr14:40717974-40717975 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs559811502 | chr14:40717976-40717977 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs537073155 | chr14:40718010-40718011 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs533569294 | chr14:40718018-40718019 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs373460213 | chr14:40718019-40718020 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs528458078 | chr14:40718035-40718036 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs145187092 | chr14:40718078-40718079 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs561975441 | chr14:40718096-40718097 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs530619913 | chr14:40718100-40718101 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs574487266 | chr14:40718130-40718131 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs149615157 | chr14:40718142-40718143 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs376672240 | chr14:40718248-40718249 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs61417653 | chr14:40718268-40718269 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs528435615 | chr14:40718291-40718292 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs190049993 | chr14:40718294-40718295 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs138800195 | chr14:40718319-40718320 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:62)
| Disease | PMID | Source |
|---|---|---|
| Esophageal cancer | 21851588 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| High-proliferative meningiomas | 17937814 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Cancer | 21637783 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Melanoma | 18172304 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Neuroblastoma | 19435921 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Gastrointestinal stromal cancer | 19259404 | CNVD |
| Gastrointestinal stromal cancer | 17535989 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Paraganglioma | 17535989 | CNVD |
| Pulmonary chondroma | 17535989 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Chronic myeloid leukemia | 20724749 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Prostate cancer | 21298110 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Intellectual disability | 22045946 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Cancer | 21183584 | CNVD |
| Thyroid cancer | 19470727 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| early-passage human iPS cells | 21368824 | CNVD |
| Non-syndromic sensorineural hearing loss | 19587683 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:40717800-40718400 | Enhancers | Fetal Kidney | kidney |
