Variant report
| Variant | nsv520492 |
|---|---|
| Chromosome Location | chr11:3645057-3645345 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
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| No data |
| No data |
| No data |
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| No data |
| Variant related genes | Relation type |
|---|---|
| TRPC2 | TF binding region |
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 | rs2898934 | chr11:3645057-3645058 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 2 | rs368072063 | chr11:3645064-3645065 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs546331321 | chr11:3645081-3645082 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs117398323 | chr11:3645105-3645106 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs6578401 | chr11:3645133-3645134 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 6 | rs6578402 | chr11:3645148-3645149 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs559423145 | chr11:3645211-3645212 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs180670746 | chr11:3645217-3645218 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs548132796 | chr11:3645297-3645298 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs563490410 | chr11:3645312-3645313 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs10834647 | chr11:3645313-3645314 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs10834648 | chr11:3645345-3645346 | Weak transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
Variant related diseases (count:61)
| Disease | PMID | Source |
|---|---|---|
| Ovarian cancer | 21720365 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Breast cancer | 19432969 | CNVD |
| Alzheimer''s disease | 17576883 | CNVD |
| Long-qt syndrome | 17576883 | CNVD |
| Emphysema | 19352772 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Chordoma | 18071362 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Cancer | 21183584 | CNVD |
| Gastric adenocarcinoma | 19115996 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Melanoma | 18172304 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Parathyroid adenoma | 22454399 | CNVD |
| Chordoma | 21602918 | CNVD |
| Breast cancer | 21949216 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 19222835 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Beckwith-Wiedemann syndrome | 21518781 | CNVD |
| Wilms tumour | 21518781 | CNVD |
| Hepatoblastoma | 21518781 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Gastrointestinal stromal cancer | 17535989 | CNVD |
| Paraganglioma | 17535989 | CNVD |
| Pulmonary chondroma | 17535989 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| Ovine squamous-cell carcinoma | 17599052 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioma | 17123091 | CNVD |
| Lung cancer | 16773561 | CNVD |
| Neuroblastoma | 21124317 | CNVD |
| Lung adenocarcinoma | 17086460 | CNVD |
| Lung cancer | 17086460 | CNVD |
| Schizophrenia | 21399695 | CNVD |
| Gastric cancer | 16891809 | CNVD |
| Cancer | 17160897 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:3636000-3648400 | Weak transcription | Right Atrium | heart |
| 2 | chr11:3636400-3646800 | Weak transcription | Spleen | Spleen |
| 3 | chr11:3638600-3647400 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 4 | chr11:3644000-3645800 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
| 5 | chr11:3644200-3647600 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 6 | chr11:3644400-3646800 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
| 7 | chr11:3644400-3647600 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 8 | chr11:3644600-3646600 | Weak transcription | Primary monocytes fromperipheralblood | blood |
| 9 | chr11:3644600-3647200 | Weak transcription | Adipose Nuclei | Adipose |
| 10 | chr11:3644600-3647200 | Weak transcription | Monocytes-CD14+_RO01746 | blood |
