Variant report
| Variant | esv3379452 |
|---|---|
| Chromosome Location | chr11:32898999-32899505 |
| 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:20 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs189656058 | chr11:32899004-32899005 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs555484823 | chr11:32899005-32899006 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs575203312 | chr11:32899024-32899025 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs200472491 | chr11:32899034-32899035 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs11406143 | chr11:32899035-32899036 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs397825892 | chr11:32899038-32899039 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs201391369 | chr11:32899039-32899040 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs11032049 | chr11:32899070-32899071 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs182066404 | chr11:32899135-32899136 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs77689446 | chr11:32899140-32899141 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs540162401 | chr11:32899142-32899143 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs80350317 | chr11:32899159-32899160 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs369692044 | chr11:32899188-32899189 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs112725527 | chr11:32899193-32899194 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs115835015 | chr11:32899257-32899258 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs563005475 | chr11:32899282-32899283 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs60475066 | chr11:32899425-32899426 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs548693482 | chr11:32899455-32899456 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs566931956 | chr11:32899456-32899457 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs187615820 | chr11:32899477-32899478 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:80)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| Autism | 22495311 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Non-small cell lung cancer | 21385341 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Potocki-Shaffer syndrome | 19222835 | CNVD |
| WAGR syndrome | 19222835 | CNVD |
| Chordoma | 18071362 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Aniridia syndrome | 21572526 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Retinoblastoma | 22278416 | CNVD |
| Denys-drash syndrome | 21085971 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| WAGR syndrome | 16773131 | CNVD |
| Disorders of sex development | 22290220 | CNVD |
| Aniridia syndrome | 17204608 | CNVD |
| Mental retardation | 17204608 | CNVD |
| WAGR syndrome | 19617690 | CNVD |
| genitourinary abnormalities | 17204608 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Mental retardation | 16773131 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Cancer | 17160897 | CNVD |
| Cancer | 21183584 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| WAGR syndrome | 22470819 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Denys-drash syndrome | 19566914 | CNVD |
| Familial wilms tumor | 19566914 | CNVD |
| Frasier syndrome | 19566914 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| WAGR syndrome | 20603712 | CNVD |
| Autism | 17322880 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Cancer | 20164920 | CNVD |
| Breast cancer | 16620391 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Ependymoma | 20639864 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:32896200-32900600 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
