Variant report
| Variant | nsv980580 |
|---|---|
| Chromosome Location | chr5:101385336-101386270 |
| 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:30 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs541072343 | chr5:101385354-101385355 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs551771393 | chr5:101385387-101385388 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs6869524 | chr5:101385401-101385402 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 4 | rs570703059 | chr5:101385432-101385433 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs577851297 | chr5:101385452-101385453 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs545008898 | chr5:101385461-101385462 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs188293940 | chr5:101385465-101385466 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs78847211 | chr5:101385477-101385478 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs528807322 | chr5:101385496-101385497 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs144809888 | chr5:101385528-101385529 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs532005644 | chr5:101385636-101385637 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs2045841 | chr5:101385698-101385699 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs3039993 | chr5:101385708-101385709 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs562270901 | chr5:101385747-101385748 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs148553824 | chr5:101385787-101385788 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs371717930 | chr5:101385793-101385794 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs547632902 | chr5:101385822-101385823 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs565819600 | chr5:101385829-101385830 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs533278563 | chr5:101385841-101385842 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs12054761 | chr5:101385881-101385882 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 21 | rs569730082 | chr5:101385901-101385902 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs199608971 | chr5:101385902-101385903 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs193203288 | chr5:101385910-101385911 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs151106869 | chr5:101385956-101385957 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs184145013 | chr5:101386017-101386018 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs534506138 | chr5:101386041-101386042 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs11242318 | chr5:101386075-101386076 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 28 | rs140034968 | chr5:101386201-101386202 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs374061493 | chr5:101386221-101386222 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs188529314 | chr5:101386251-101386252 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:83)
| Disease | PMID | Source |
|---|---|---|
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| 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 |
| Breast cancer | 17393978 | CNVD |
| Cancer | 21359685 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| adenomatous polyposis | 22470819 | 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 |
| Retinoblastoma | 22278416 | CNVD |
| Bipolar disorder | 18458673 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Merkel cell carcinoma | 19020549 | 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 |
| Testicular cancer | 18059402 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Cancer | 20164920 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| abnormal development | 18461090 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Chronic lymphocytic leukemia | 18922857 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Neurocytoma | 17123091 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Breast cancer | 21509527 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:101384400-101386200 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
| 2 | chr5:101384400-101386200 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
| 3 | chr5:101384600-101386200 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
| 4 | chr5:101384800-101385600 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 5 | chr5:101384800-101386000 | Enhancers | Fetal Intestine Large | intestine |
| 6 | chr5:101384800-101386000 | Enhancers | Fetal Intestine Small | intestine |
| 7 | chr5:101385200-101386200 | Enhancers | Primary hematopoietic stem cells | blood |
| 8 | chr5:101386200-101387400 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
