Variant report
| Variant | esv3383576 |
|---|---|
| Chromosome Location | chr12:103847913-103848291 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:103845899..103849186-chr12:103851469..103854474,4 | K562 | blood: |
| 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 | rs565182957 | chr12:103847995-103847996 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs530901134 | chr12:103848000-103848001 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs560440704 | chr12:103848037-103848038 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs550667356 | chr12:103848042-103848043 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs561080557 | chr12:103848055-103848056 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs530128373 | chr12:103848062-103848063 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs548970040 | chr12:103848070-103848071 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs368502559 | chr12:103848092-103848093 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs192814124 | chr12:103848100-103848101 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs182371124 | chr12:103848141-103848142 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs534946216 | chr12:103848153-103848154 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs200488451 | chr12:103848179-103848180 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs551599396 | chr12:103848272-103848273 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs12825882 | chr12:103848275-103848276 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs537105812 | chr12:103848279-103848280 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:65)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Autism | 22495311 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | 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 |
| Lung cancer | 18438408 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Melanoma | 18172304 | CNVD |
| Glioblastoma multiforme | 21390271 | CNVD |
| Cancer | 20164919 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Cancer | 16751803 | CNVD |
| Biliary cancer | 20360734 | CNVD |
| Breast cancer | 20360734 | CNVD |
| Coronary artery disease | 20360734 | CNVD |
| Crohn''s disease | 20360734 | CNVD |
| Hypertension | 20360734 | CNVD |
| Rheumatoid arthritis | 20360734 | CNVD |
| Type 1 diabetes | 20360734 | CNVD |
| Type 2 diabetes | 20360734 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Chronic lymphocytic leukemia | 21049055 | CNVD |
| Neurocytoma | 17123091 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:103847600-103851400 | Enhancers | Primary T helper memory cells from peripheral blood 1 | blood |
| 2 | chr12:103847800-103849000 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
| 3 | chr12:103847800-103850600 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
| 4 | chr12:103848000-103851400 | Enhancers | Primary T helper naive cells fromperipheralblood | blood |
| 5 | chr12:103848200-103850600 | Enhancers | Primary T helper naive cells from peripheral blood | blood |
| 6 | chr12:103848200-103851800 | Enhancers | Primary B cells from peripheral blood | blood |
