Variant report
| Variant | esv3412525 |
|---|---|
| Chromosome Location | chr7:57242606-57243128 |
| 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 | rs150227916 | chr7:57242613-57242614 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs13227732 | chr7:57242629-57242630 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs13224308 | chr7:57242643-57242644 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs373823358 | chr7:57242656-57242657 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs138695768 | chr7:57242676-57242677 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs150570909 | chr7:57242692-57242693 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs149354996 | chr7:57242745-57242746 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs73353178 | chr7:57242746-57242747 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs183881150 | chr7:57242765-57242766 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs73353179 | chr7:57242768-57242769 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs566054992 | chr7:57242793-57242794 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs533423070 | chr7:57242804-57242805 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs551682761 | chr7:57242809-57242810 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs569910030 | chr7:57242818-57242819 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs117377801 | chr7:57242856-57242857 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs386713637 | chr7:57242862-57242863 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs28488084 | chr7:57242864-57242865 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs35321435 | chr7:57242865-57242866 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs577667247 | chr7:57242903-57242904 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs372460540 | chr7:57242928-57242929 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs145858785 | chr7:57242965-57242966 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs188159610 | chr7:57242993-57242994 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs545314510 | chr7:57242997-57242998 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs112241523 | chr7:57242998-57242999 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs575494380 | chr7:57243008-57243009 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs542970133 | chr7:57243013-57243014 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs537269350 | chr7:57243019-57243020 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs34643536 | chr7:57243047-57243048 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs565189064 | chr7:57243055-57243056 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs561187419 | chr7:57243097-57243098 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:85)
| Disease | PMID | Source |
|---|---|---|
| Neuroblastoma | 18923191 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Glioma | 21971842 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Medulloblastoma | 21979893 | 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 |
| Esophageal squamous carcinoma | 21637470 | 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 |
| Melanoma | 18172304 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| head and neck squamous cell carcinoma | 19289630 | CNVD |
| Stenocardia | 21860640 | CNVD |
| Vasospasm | 21860640 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Autism | 22495311 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Cancer | 21183584 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Williams-beuren syndrome | 22470819 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Glioblastoma multiforme | 21750150 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Gastric cancer | 24379144 | CNVD |
| Glioblastoma multiforme | 17002787 | CNVD |
| Lung cancer | 18438408 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Lissencephaly | 21572526 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cutaneous T-cell lymphoma | 21881587 | CNVD |
| Glioblastoma multiforme | 22291905 | CNVD |
| Glioblastoma multiforme | 19435819 | CNVD |
| Intracranial ependymoma | 16609018 | CNVD |
| Lung cancer | 21911935 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Breast cancer | 21990379 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Colorectal cancer | 19455253 | CNVD |
| Lung cancer | 17925434 | CNVD |
| Glioma | 24330732 | CNVD |
| Lung adenocarcinoma | 23938291 | CNVD |
| Glioma | 17634744 | CNVD |
| Oral squamous cell carcinoma | 19276369 | CNVD |
| Ovine squamous-cell carcinoma | 17599052 | CNVD |
| Lung cancer | 20031968 | CNVD |
| Glioblastoma | 17090523 | CNVD |
| Esophageal squamous carcinoma | 18405350 | CNVD |
| Glioma | 17123091 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Medullary thyroid carcinoma | 18765511 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| Williams Syndrome | 20824207 | CNVD |
| early-passage human iPS cells | 21368824 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:57241800-57243800 | ZNF genes & repeats | Monocytes-CD14+_RO01746 | blood |
| 2 | chr7:57242600-57243800 | ZNF genes & repeats | Brain Substantia Nigra | brain |
| 3 | chr7:57242800-57243600 | ZNF genes & repeats | Adipose Nuclei | Adipose |
