Variant report
| Variant | nsv523243 |
|---|---|
| Chromosome Location | chr3:164088664-164092986 |
| 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:41 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs13070763 | chr3:164088664-164088665 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs545126685 | chr3:164088691-164088692 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs192574856 | chr3:164088695-164088696 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs374273584 | chr3:164088726-164088727 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs78394296 | chr3:164088748-164088749 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs185312646 | chr3:164088933-164088934 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs73157132 | chr3:164088939-164088940 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs574617796 | chr3:164088973-164088974 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs543114603 | chr3:164088978-164088979 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs557123576 | chr3:164089038-164089039 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs576924353 | chr3:164089044-164089045 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs189793199 | chr3:164089049-164089050 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs76350742 | chr3:164089100-164089101 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs559271708 | chr3:164089109-164089110 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs572779537 | chr3:164089119-164089120 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs147540865 | chr3:164089121-164089122 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs114662392 | chr3:164089248-164089249 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs111388193 | chr3:164089294-164089295 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs550377149 | chr3:164089308-164089309 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs549958781 | chr3:164089387-164089388 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs368988438 | chr3:164089416-164089417 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs574101119 | chr3:164089422-164089423 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs578148473 | chr3:164089429-164089430 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs563914623 | chr3:164089456-164089457 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs182029821 | chr3:164089516-164089517 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs139427561 | chr3:164089520-164089521 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs13077034 | chr3:164089530-164089531 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 28 | rs184668835 | chr3:164089555-164089556 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs548221723 | chr3:164089569-164089570 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs567919341 | chr3:164089604-164089605 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs369203184 | chr3:164089696-164089697 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs537160752 | chr3:164089775-164089776 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs556822808 | chr3:164089778-164089779 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs576872204 | chr3:164089831-164089832 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs539277207 | chr3:164089888-164089889 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs552734800 | chr3:164089898-164089899 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs553341374 | chr3:164089920-164089921 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs572818257 | chr3:164089939-164089940 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs78031587 | chr3:164089948-164089949 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs139315194 | chr3:164089985-164089986 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs188285017 | chr3:164089993-164089994 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:77)
| Disease | PMID | Source |
|---|---|---|
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Melanoma | 18172304 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Cervical Cancer | 21857958 | CNVD |
| Melanoma | 21693616 | CNVD |
| Lung cancer | 21426551 | CNVD |
| Cancer | 21637783 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Cancer | 22065749 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Non-small cell lung cancer | 19010865 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Prostate cancer | 16547154 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Mantle cell lymphoma | 19029149 | CNVD |
| Malformation | 19546859 | CNVD |
| Schizophrenia | 19546859 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Attention deficit hyperactivity disorder | 21324949 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| epilepsy | 18472482 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Parkinson disease | 21907011 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Glioblastoma multiforme | 21138945 | CNVD |
| Cancer | 20164919 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| early-passage human iPS cells | 21368824 | CNVD |
| Alcoholism | 21790672 | CNVD |
| Schizophrenia | 20967226 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| Acute myeloid leukemia | 19651600 | CNVD |
| Autism | 19287141 | CNVD |
| Incontinentia Pigmenti | 22033527 | CNVD |
| Rett syndrome | 21593744 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Autism | 20531469 | CNVD |
| Non-syndromic sensorineural hearing loss | 19587683 | CNVD |
| Recurrent pregnancy loss | 19789632 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:164088600-164089800 | Enhancers | Fetal Heart | heart |
| 2 | chr3:164089600-164090000 | Enhancers | Fetal Brain Female | brain |
