Variant report
| Variant | esv3492141 |
|---|---|
| Chromosome Location | chr12:104293380-104293731 |
| 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 | chr12:104293129..104295287-chr12:104295560..104297769,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs138581786 | chr12:104293395-104293396 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs200415046 | chr12:104293408-104293409 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs201680103 | chr12:104293409-104293410 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs199768023 | chr12:104293430-104293431 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs113175760 | chr12:104293714-104293715 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs112818489 | chr12:104293723-104293724 | Enhancers Weak transcription | 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 | chr12:104284000-104299600 | Weak transcription | GM12878-XiMat | blood |
| 2 | chr12:104284600-104294200 | Weak transcription | Thymus | Thymus |
| 3 | chr12:104288400-104300000 | Weak transcription | Brain Hippocampus Middle | brain |
| 4 | chr12:104292200-104294200 | Weak transcription | Primary T killer naive cells fromperipheralblood | blood |
| 5 | chr12:104293200-104293600 | Enhancers | Primary T killer memory cells from peripheral blood | blood |
| 6 | chr12:104293200-104294800 | Enhancers | Primary T cells from cord blood | blood |
| 7 | chr12:104293600-104294000 | Weak transcription | Primary T killer memory cells from peripheral blood | blood |
