Variant report
| Variant | nsv980578 |
|---|---|
| Chromosome Location | chr5:99414325-99441791 |
| 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:36 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs534227680 | chr5:99416408-99416409 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs559176528 | chr5:99416433-99416434 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs576779974 | chr5:99416439-99416440 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs537882715 | chr5:99416444-99416445 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs370192926 | chr5:99416445-99416446 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs554620851 | chr5:99416488-99416489 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs541517037 | chr5:99416500-99416501 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs28722874 | chr5:99416507-99416508 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs571859178 | chr5:99416572-99416573 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs28641943 | chr5:99416602-99416603 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs199932729 | chr5:99416606-99416607 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs113046070 | chr5:99416620-99416621 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs545798494 | chr5:99416648-99416649 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs6892730 | chr5:99416649-99416650 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs112181221 | chr5:99416657-99416658 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs182599870 | chr5:99416660-99416661 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs111796902 | chr5:99416725-99416726 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs550979235 | chr5:99416739-99416740 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs532553026 | chr5:99416743-99416744 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs562866089 | chr5:99416838-99416839 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs187246951 | chr5:99416848-99416849 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs116838347 | chr5:99416916-99416917 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs530286939 | chr5:99416920-99416921 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs62388142 | chr5:99416942-99416943 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs191285540 | chr5:99416945-99416946 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs147812202 | chr5:99416952-99416953 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs571153281 | chr5:99416971-99416972 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs183828734 | chr5:99416985-99416986 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs571398674 | chr5:99416997-99416998 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs370844316 | chr5:99416998-99416999 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs190199402 | chr5:99417062-99417063 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs553656738 | chr5:99417102-99417103 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs62388143 | chr5:99417109-99417110 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs201268760 | chr5:99417113-99417114 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs551922408 | chr5:99417114-99417115 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs567674646 | chr5:99417178-99417179 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:88)
| 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 |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Schizophrenia | 20967226 | CNVD |
| Non-syndromic sensorineural hearing loss | 19587683 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 18316590 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:99416400-99417200 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
