Variant report
| Variant | esv3464311 |
|---|---|
| Chromosome Location | chr3:82201368-82204251 |
| 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:48 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs569199352 | chr3:82201447-82201448 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs543568310 | chr3:82201547-82201548 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs201731772 | chr3:82201548-82201549 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs113128517 | chr3:82201565-82201566 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs538318000 | chr3:82201610-82201611 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs377195190 | chr3:82201650-82201651 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs558319826 | chr3:82201666-82201667 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs375051385 | chr3:82201677-82201678 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs73135720 | chr3:82201691-82201692 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs112069766 | chr3:82201840-82201841 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs537383987 | chr3:82201869-82201870 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs140788598 | chr3:82201925-82201926 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs188004529 | chr3:82201926-82201927 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs201917036 | chr3:82201949-82201950 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs573889307 | chr3:82201963-82201964 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs542597692 | chr3:82201981-82201982 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs538260908 | chr3:82203464-82203465 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs558256404 | chr3:82203494-82203495 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs571773872 | chr3:82203500-82203501 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs541636390 | chr3:82203507-82203508 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs376432232 | chr3:82203549-82203550 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs189679801 | chr3:82203567-82203568 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs553924886 | chr3:82203618-82203619 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs573801199 | chr3:82203694-82203695 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs536526371 | chr3:82203709-82203710 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs556199069 | chr3:82203712-82203713 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs575604971 | chr3:82203714-82203715 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs544606459 | chr3:82203720-82203721 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs564595913 | chr3:82203721-82203722 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs552904487 | chr3:82203723-82203724 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs564738641 | chr3:82203725-82203726 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs571796745 | chr3:82203751-82203752 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs540813390 | chr3:82203776-82203777 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs560712486 | chr3:82203781-82203782 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs529494745 | chr3:82203827-82203828 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs35200041 | chr3:82203860-82203861 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs549621649 | chr3:82203954-82203955 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs376485456 | chr3:82204004-82204005 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs9831628 | chr3:82204006-82204007 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs192709384 | chr3:82204013-82204014 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs150101588 | chr3:82204097-82204098 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs373663129 | chr3:82204100-82204101 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs551810566 | chr3:82204153-82204154 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs550472855 | chr3:82204192-82204193 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs138836011 | chr3:82204197-82204198 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs534299261 | chr3:82204238-82204239 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs112982481 | chr3:82204246-82204247 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs547604308 | chr3:82204247-82204248 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:74)
| 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 |
| Splenic marginal zone lymphoma | 21957467 | 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 |
| Mental retardation | 17124404 | CNVD |
| Esophageal squamous carcinoma | 17470683 | CNVD |
| Autism | 20808228 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:82200600-82202000 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 2 | chr3:82203400-82204200 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 3 | chr3:82203400-82204800 | Enhancers | HepG2 | liver |
| 4 | chr3:82204200-82205000 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
