Variant report
| Variant | esv20221 |
|---|---|
| Chromosome Location | chr10:18670711-18671270 |
| 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:29 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs567598940 | chr10:18670711-18670712 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs11013950 | chr10:18670717-18670718 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 3 | rs552926583 | chr10:18670774-18670775 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs571204899 | chr10:18670778-18670779 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs565152541 | chr10:18670852-18670853 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs530093470 | chr10:18670855-18670856 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs556787876 | chr10:18670897-18670898 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs541237512 | chr10:18670929-18670930 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs117282185 | chr10:18670934-18670935 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs7908976 | chr10:18670996-18670997 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs181018191 | chr10:18671000-18671001 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs143680080 | chr10:18671018-18671019 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs144044269 | chr10:18671028-18671029 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs559695706 | chr10:18671052-18671053 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs374497436 | chr10:18671053-18671054 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs148654300 | chr10:18671056-18671057 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs545449103 | chr10:18671059-18671060 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs142124464 | chr10:18671070-18671071 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs370129346 | chr10:18671093-18671094 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs74360634 | chr10:18671094-18671095 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs549876919 | chr10:18671098-18671099 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs547116586 | chr10:18671105-18671106 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs185020556 | chr10:18671111-18671112 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs528776949 | chr10:18671118-18671119 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs113545986 | chr10:18671186-18671187 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs370868506 | chr10:18671187-18671188 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs191048246 | chr10:18671231-18671232 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs538273980 | chr10:18671256-18671257 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs563511358 | chr10:18671257-18671258 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:40)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 16783165 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Phyllodes tumor | 17334353 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Chordoma | 21602918 | CNVD |
| Ewing''s sarcoma | 21437220 | 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 |
| Oral cancer | 21386901 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 20724749 | CNVD |
| Autism | 22495311 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Cutaneous T-cell lymphoma | 21881587 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Cancer | 20164919 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Epilepsy | 22083797 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:18659400-18676000 | Weak transcription | Right Ventricle | heart |
| 2 | chr10:18665200-18680400 | Weak transcription | Fetal Stomach | stomach |
| 3 | chr10:18666400-18682400 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
| 4 | chr10:18667800-18672200 | Weak transcription | Ovary | ovary |
| 5 | chr10:18668400-18684000 | Weak transcription | Stomach Smooth Muscle | stomach |
| 6 | chr10:18669000-18689400 | Weak transcription | Left Ventricle | heart |
| 7 | chr10:18670200-18675600 | Weak transcription | Fetal Heart | heart |
