Variant report
| Variant | esv3351912 |
|---|---|
| Chromosome Location | chr11:8415576-8415924 |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr11:8405491..8409851-chr11:8412424..8416034,4 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs561919721 | chr11:8415581-8415582 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs531064461 | chr11:8415594-8415595 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs550771131 | chr11:8415596-8415597 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs553128021 | chr11:8415644-8415645 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs181983888 | chr11:8415661-8415662 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs185169975 | chr11:8415690-8415691 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs552395092 | chr11:8415706-8415707 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs145228591 | chr11:8415712-8415713 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs76415124 | chr11:8415729-8415730 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs149160712 | chr11:8415781-8415782 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs115868582 | chr11:8415827-8415828 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs529826081 | chr11:8415842-8415843 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs7114156 | chr11:8415849-8415850 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs57577868 | chr11:8415862-8415863 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs189201556 | chr11:8415875-8415876 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs181091893 | chr11:8415906-8415907 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs573237128 | chr11:8415918-8415919 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:64)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Autism | 22495311 | 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 |
| small cell lung cancer | 20016488 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Dysmorphic features | 22052655 | CNVD |
| Intellectual disability | 22052655 | CNVD |
| Obesity | 22052655 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:8408200-8415600 | Enhancers | Fetal Lung | lung |
| 2 | chr11:8411000-8417600 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 3 | chr11:8411200-8417200 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
| 4 | chr11:8411200-8417600 | Weak transcription | H1 Cell Line | embryonic stem cell |
| 5 | chr11:8411200-8417600 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 6 | chr11:8411600-8417600 | Weak transcription | Primary hematopoietic stem cells | blood |
| 7 | chr11:8415600-8417600 | Weak transcription | Fetal Lung | lung |
