Variant report
| Variant | nsv328690 |
|---|---|
| Chromosome Location | chr5:124465999-124466044 |
| 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:13 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs70991663 | chr5:124465999-124466000 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs370911294 | chr5:124466000-124466001 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs60385052 | chr5:124466003-124466004 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs111603217 | chr5:124466006-124466007 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs11241787 | chr5:124466009-124466010 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs13174130 | chr5:124466011-124466012 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs374335146 | chr5:124466012-124466013 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs13156507 | chr5:124466013-124466014 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs59079949 | chr5:124466017-124466018 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs61492906 | chr5:124466023-124466024 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs60789227 | chr5:124466027-124466028 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs28674783 | chr5:124466034-124466035 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs57356039 | chr5:124466043-124466044 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:72)
| Disease | PMID | Source |
|---|---|---|
| Metanephric adenoma | 20802469 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Phyllodes tumor | 17334353 | CNVD |
| Malaria | 21533027 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Cancer | 20164919 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Cancer | 16751803 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Melanoma | 18172304 | CNVD |
| Glioma | 20126413 | CNVD |
| Cancer | 22429812 | CNVD |
| Cancer | 21637783 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Leukemia | 17361228 | CNVD |
| Myelodysplastic syndrome | 18508791 | CNVD |
| 5q-syndrome | 17576883 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Lung cancer | 16740712 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Esophageal adenocarcinoma | 19417022 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Bipolar disorder | 18458673 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Cancer | 20164920 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Renal cell carcinoma | 19377443 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Gastrointestinal stromal cancer | 19259404 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Parathyroid adenoma | 22454399 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:124456200-124470000 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 2 | chr5:124456200-124470200 | Weak transcription | ES-WA7 Cell Line | embryonic stem cell |
| 3 | chr5:124461400-124468200 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 4 | chr5:124465400-124470000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 5 | chr5:124465400-124471000 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
| 6 | chr5:124465600-124468600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 7 | chr5:124465600-124470000 | Weak transcription | HUVEC | blood vessel |
| 8 | chr5:124465600-124470000 | Weak transcription | NHDF-Ad | bronchial |
