Variant report
| Variant | esv3336471 |
|---|---|
| Chromosome Location | chr12:41125819-41126262 |
| 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:15 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs534495913 | chr12:41125847-41125848 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs17128701 | chr12:41125860-41125861 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs185076323 | chr12:41125876-41125877 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs375436016 | chr12:41125906-41125907 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs76237529 | chr12:41125940-41125941 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs189885758 | chr12:41125941-41125942 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs371368001 | chr12:41125964-41125965 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs60805356 | chr12:41126005-41126006 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs183099452 | chr12:41126017-41126018 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs546581704 | chr12:41126026-41126027 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs571144519 | chr12:41126039-41126040 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs186275992 | chr12:41126155-41126156 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs555540640 | chr12:41126156-41126157 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs191725692 | chr12:41126230-41126231 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs79529668 | chr12:41126233-41126234 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:58)
| Disease | PMID | Source |
|---|---|---|
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Seminomas | 18059402 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Cancer | 20164919 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Breast cancer | 21949216 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 21637783 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Gastrointestinal stromal cancer | 20470368 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Cancer | 21183584 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Lissencephaly | 21572526 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Autism | 20858243 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Cancer | 20164920 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:41122200-41126200 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
| 2 | chr12:41122200-41127600 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 3 | chr12:41122200-41127800 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 4 | chr12:41122800-41129600 | Weak transcription | A549 | lung |
| 5 | chr12:41125800-41127400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 6 | chr12:41126000-41126600 | Enhancers | Pancreatic Islets | Pancreatic Islet |
| 7 | chr12:41126000-41127600 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 8 | chr12:41126000-41127600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 9 | chr12:41126000-41127800 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 10 | chr12:41126200-41130000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
