Variant report
| Variant | esv3432920 |
|---|---|
| Chromosome Location | chr12:119513134-119513293 |
| 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:12 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs541693748 | chr12:119513165-119513166 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs148888463 | chr12:119513193-119513194 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs34249187 | chr12:119513194-119513195 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs200461661 | chr12:119513208-119513209 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs201175479 | chr12:119513211-119513212 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs200166800 | chr12:119513234-119513235 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs140591035 | chr12:119513246-119513247 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs549589612 | chr12:119513248-119513249 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs148913974 | chr12:119513254-119513255 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs147569990 | chr12:119513257-119513258 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs200690609 | chr12:119513258-119513259 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs61937983 | chr12:119513281-119513282 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:70)
| 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 |
| small cell lung cancer | 20016488 | CNVD |
| Glioblastoma multiforme | 21390271 | CNVD |
| Cancer | 20164919 | 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 |
| lymphocytic leukemia | 21291569 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Schizophrenia | 18923514 | CNVD |
| Schizophrenia | 22241247 | CNVD |
| Cryptorchidism | 21048976 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Breast cancer | 21806811 | CNVD |
| Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Beckwith-Wiedemann syndrome | 20648245 | CNVD |
| Developmental delay | 21457577 | CNVD |
| dysmorphic | 21457577 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:119506600-119513400 | Weak transcription | Fetal Brain Male | brain |
| 2 | chr12:119507600-119513200 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 3 | chr12:119510000-119519800 | Weak transcription | Fetal Brain Female | brain |
| 4 | chr12:119510600-119513200 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 5 | chr12:119510800-119513200 | Weak transcription | Pancreas | Pancrea |
| 6 | chr12:119513200-119513800 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
| 7 | chr12:119513200-119513800 | ZNF genes & repeats | Pancreas | Pancrea |
| 8 | chr12:119513200-119514000 | ZNF genes & repeats | H9 Cell Line | embryonic stem cell |
| 9 | chr12:119513200-119514000 | ZNF genes & repeats | Fetal Kidney | kidney |
