Variant report
Variant | nsv825358 |
---|---|
Chromosome Location | chr10:45846158-45846722 |
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)
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs559926221 | chr10:45846177-45846178 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs533252278 | chr10:45846184-45846185 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs533148278 | chr10:45846190-45846191 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs569973893 | chr10:45846191-45846192 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs142136944 | chr10:45846200-45846201 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs116512122 | chr10:45846231-45846232 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs144147163 | chr10:45846242-45846243 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs567968206 | chr10:45846271-45846272 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs576714601 | chr10:45846299-45846300 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs535314613 | chr10:45846317-45846318 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs553544269 | chr10:45846372-45846373 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs192781337 | chr10:45846374-45846375 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs72788095 | chr10:45846404-45846405 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
14 | rs183259731 | chr10:45846412-45846413 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs557798721 | chr10:45846419-45846420 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs575956074 | chr10:45846462-45846463 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs543393711 | chr10:45846489-45846490 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs200193107 | chr10:45846518-45846519 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs188483609 | chr10:45846527-45846528 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs193077706 | chr10:45846546-45846547 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs574378594 | chr10:45846561-45846562 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs72788096 | chr10:45846569-45846570 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
23 | rs559669104 | chr10:45846583-45846584 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs533540608 | chr10:45846602-45846603 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs184217579 | chr10:45846634-45846635 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs371307447 | chr10:45846641-45846642 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs530817711 | chr10:45846709-45846710 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
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 |
Developmental delay | 21948486 | CNVD |
Dysmorphic features | 21948486 | CNVD |
Epilepsy | 21948486 | CNVD |
Non-syndromic sensorineural hearing loss | 17289997 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Glioblastoma multiforme | 21138945 | CNVD |
Autism | 19287141 | CNVD |
Intellectual disability | 21948486 | CNVD |
Glioblastoma multiforme | 21525872 | CNVD |
Non-syndromic sensorineural hearing loss | 19587683 | CNVD |
small cell lung cancer | 20016488 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr10:45844200-45848200 | Weak transcription | Esophagus | oesophagus |
2 | chr10:45846400-45847200 | Enhancers | GM12878-XiMat | blood |