Variant report
| Variant | esv3386306 |
|---|---|
| Chromosome Location | chr10:44246727-44247174 |
| 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:22 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs563645935 | chr10:44246786-44246787 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs560165719 | chr10:44246821-44246822 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs531248075 | chr10:44246870-44246871 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs549687214 | chr10:44246875-44246876 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs528959577 | chr10:44246893-44246894 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs187248244 | chr10:44246901-44246902 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs59661247 | chr10:44246904-44246905 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs536364893 | chr10:44246929-44246930 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs147142619 | chr10:44246970-44246971 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs191660760 | chr10:44246991-44246992 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs185206858 | chr10:44246996-44246997 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs539096882 | chr10:44247015-44247016 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs7911606 | chr10:44247026-44247027 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs575596904 | chr10:44247032-44247033 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs536634022 | chr10:44247040-44247041 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs190055876 | chr10:44247059-44247060 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs555661018 | chr10:44247064-44247065 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs375065323 | chr10:44247092-44247093 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs73268468 | chr10:44247095-44247096 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 20 | rs181705280 | chr10:44247109-44247110 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs374446025 | chr10:44247110-44247111 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs559236153 | chr10:44247124-44247125 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:53)
| Disease | PMID | Source |
|---|---|---|
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Chordoma | 21602918 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Melanoma | 18172304 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Acute lymphoblastic leukemia | 20724749 | CNVD |
| Autism | 22495311 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Autism | 18414403 | CNVD |
| Cockayne syndrome | 18421352 | CNVD |
| Glioblastoma | 16823260 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Mental retardation | 21062444 | CNVD |
| Cancer | 21183584 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Glioma | 21971842 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Schizophrenia | 22241247 | CNVD |
| Intellectual disability | 21811512 | CNVD |
| Papillary thyroid carcinoma | 21436994 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Obesity | 21956041 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Breast cancer | 21785460 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Developmental delay | 21948486 | CNVD |
| Dysmorphic features | 21948486 | CNVD |
| Epilepsy | 21948486 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:44244800-44248600 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 2 | chr10:44246200-44248000 | Weak transcription | Fetal Adrenal Gland | Adrenal Gland |
| 3 | chr10:44246600-44248400 | Weak transcription | Pancreas | Pancrea |
