Variant report
| Variant | esv3330817 |
|---|---|
| Chromosome Location | chr3:84575662-84579610 |
| 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:40 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs533783032 | chr3:84575735-84575736 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs17021590 | chr3:84575736-84575737 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs568439306 | chr3:84575739-84575740 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs146971344 | chr3:84575820-84575821 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs537753109 | chr3:84575858-84575859 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs566552776 | chr3:84575862-84575863 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs574509134 | chr3:84575866-84575867 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs542180541 | chr3:84575869-84575870 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs560415635 | chr3:84575880-84575881 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs371397628 | chr3:84575893-84575894 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs572491641 | chr3:84575918-84575919 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs183257095 | chr3:84575934-84575935 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs1471801 | chr3:84576004-84576005 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs531898310 | chr3:84576009-84576010 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs550508773 | chr3:84576011-84576012 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs113053883 | chr3:84576027-84576028 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs529683082 | chr3:84576043-84576044 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs552017320 | chr3:84576076-84576077 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs548156173 | chr3:84576094-84576095 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs571826710 | chr3:84576120-84576121 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs367784096 | chr3:84576130-84576131 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs370156161 | chr3:84576142-84576143 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs575110964 | chr3:84576163-84576164 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs374946463 | chr3:84576193-84576194 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs551811034 | chr3:84576215-84576216 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs368019372 | chr3:84576286-84576287 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs570322092 | chr3:84576291-84576292 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs537617321 | chr3:84576315-84576316 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs386663047 | chr3:84576322-84576323 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs62254689 | chr3:84576325-84576326 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 31 | rs535519792 | chr3:84576361-84576362 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs554133437 | chr3:84576369-84576370 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs572303429 | chr3:84576375-84576376 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs546285523 | chr3:84576405-84576406 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs143098253 | chr3:84576480-84576481 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs576729577 | chr3:84576484-84576485 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs147243514 | chr3:84576485-84576486 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs189065980 | chr3:84576527-84576528 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs193145987 | chr3:84576567-84576568 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs529584375 | chr3:84576587-84576588 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:78)
| Disease | PMID | Source |
|---|---|---|
| Glioblastoma multiforme | 21080181 | CNVD |
| Melanoma | 18172304 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Insulin resistance | 16721378 | CNVD |
| Neuroblastoma | 18664255 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Neuroblastoma | 21484798 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Oral cancer | 19627613 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Epithelial cancer | 22065749 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Pancreatic endocrine tumor | 20981439 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Cutaneous squamous cell carcinomas | 19131950 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Uveal melanoma | 20484589 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Cancer | 21183584 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Bipolar disorder | 20877625 | CNVD |
| Bipolar disorder | 21956041 | CNVD |
| Bipolar disorder | 22241247 | CNVD |
| Biliary cancer | 18923514 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Cancer | 21129771 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Cancer | 20164919 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Bipolar disorder | 18458673 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Soft tissue tumor | 16732325 | CNVD |
| Breast cancer | 21858162 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Mental retardation | 17124404 | CNVD |
| Esophageal squamous carcinoma | 17470683 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| craniofacial dysmorphism | 21918468 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| Lung squamous cell carcinoma | 22363434 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:84575400-84576600 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
