Variant report
| Variant | nsv981378 |
|---|---|
| Chromosome Location | chr7:4617823-4618323 |
| 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:20 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs549182923 | chr7:4618007-4618008 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs562644841 | chr7:4618014-4618015 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs568603970 | chr7:4618025-4618026 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs140514557 | chr7:4618030-4618031 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs200235571 | chr7:4618041-4618042 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs531437419 | chr7:4618053-4618054 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs28420612 | chr7:4618150-4618151 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs571262658 | chr7:4618160-4618161 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs533553257 | chr7:4618161-4618162 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs376003703 | chr7:4618168-4618169 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs547301783 | chr7:4618195-4618196 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs144083776 | chr7:4618198-4618199 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs535717211 | chr7:4618238-4618239 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs555559788 | chr7:4618243-4618244 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs575384238 | chr7:4618285-4618286 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs559256253 | chr7:4618286-4618287 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs187983841 | chr7:4618295-4618296 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs112150121 | chr7:4618298-4618299 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs578004982 | chr7:4618314-4618315 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs540241654 | chr7:4618322-4618323 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:76)
| Disease | PMID | Source |
|---|---|---|
| Lynch syndrome | 22585707 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Raine Syndrome | 17924334 | CNVD |
| Diffuse large b-cell lymphoma | 21266526 | CNVD |
| Melanoma | 18172304 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Glioma | 18556773 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Urothelial carcinoma | 18382360 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Lynch syndrome | 18415027 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Cancer | 16751803 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Glioma | 21971842 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Oral cancer | 21386901 | CNVD |
| colon cancer | 17210682 | CNVD |
| Lung adenocarcinoma | 21810691 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Hypothalamic hamartomas | 18252217 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Peripheral t-cell lymphoma | 19118030 | CNVD |
| Medulloblastoma | 18056178 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Seminomas | 18059402 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Autism | 19415332 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Malaria | 21533027 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| head and neck squamous cell carcinoma | 19289630 | CNVD |
| Stenocardia | 21860640 | CNVD |
| Vasospasm | 21860640 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Leukemia | 23979775 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Glioblastoma multiforme | 21525872 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Breast cancer | 21045282 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Ovarian clear cell carcinoma | 19293255 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:4618000-4618800 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
| 2 | chr7:4618200-4619200 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
