Variant report
Variant | nsv585622 |
---|---|
Chromosome Location | chr20:15302383-15303701 |
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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Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page:
1
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs372997142 | chr20:15302438-15302439 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs191764327 | chr20:15302452-15302453 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs149543954 | chr20:15302488-15302489 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs183110452 | chr20:15302492-15302493 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs540963941 | chr20:15302522-15302523 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs565235516 | chr20:15302572-15302573 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs532621844 | chr20:15302585-15302586 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs536632433 | chr20:15302654-15302655 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs187137211 | chr20:15302714-15302715 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs569276750 | chr20:15302780-15302781 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs117493779 | chr20:15302793-15302794 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs199846303 | chr20:15302858-15302859 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs548787971 | chr20:15302881-15302882 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs2423921 | chr20:15302888-15302889 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
15 | rs377359200 | chr20:15302897-15302898 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs573372855 | chr20:15302948-15302949 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs571572872 | chr20:15302977-15302978 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs559015455 | chr20:15302979-15302980 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs538899370 | chr20:15303013-15303014 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs557410146 | chr20:15303037-15303038 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs144128072 | chr20:15303173-15303174 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs535334849 | chr20:15303178-15303179 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs536789758 | chr20:15303207-15303208 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs566001679 | chr20:15303216-15303217 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs148622739 | chr20:15303268-15303269 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs6079749 | chr20:15303290-15303291 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs573432472 | chr20:15303307-15303308 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs535224911 | chr20:15303369-15303370 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs540474049 | chr20:15303405-15303406 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs36029610 | chr20:15303451-15303452 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs565097113 | chr20:15303462-15303463 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs558112529 | chr20:15303498-15303499 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs191649045 | chr20:15303519-15303520 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs182316393 | chr20:15303586-15303587 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs544481600 | chr20:15303624-15303625 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs573801994 | chr20:15303625-15303626 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs6110571 | chr20:15303701-15303702 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Breast cancer | 16397240 | CNVD |
abortions and stillbirths | 19751515 | CNVD |
Wilms tumour | 21544195 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Breast cancer | 16272173 | CNVD |
Melanoma | 18172304 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Oral cancer | 19627613 | CNVD |
colon cancer | 17210682 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Cancer | 16751803 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
Central neurocytomas | 17123091 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Gastric cancer | 17908304 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Colorectal cancer | 21645411 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Autism | 22495311 | CNVD |
Glaucoma | 21310917 | CNVD |
Alagille syndrome | 22470819 | CNVD |
Lung cancer | 16773561 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Alagille syndrome | 17576883 | CNVD |
Anaplastic large cell lymphoma | 18179710 | CNVD |
Prostate cancer | 18632612 | CNVD |
Ewing''s sarcoma | 18628472 | CNVD |
Glioblastoma multiforme | 18628472 | CNVD |
Leukemia | 18628472 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Kabuki syndrome | 21720541 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Neurocytoma | 17123091 | CNVD |
Glioblastoma multiforme | 21138945 | CNVD |
Cancer | 20164919 | CNVD |
Multiple sclerosis | 20663923 | CNVD |
Schizophrenia | 20663923 | CNVD |
brain infarct | 20663923 | CNVD |
Breast cancer | 22522925 | CNVD |
Cancer | 20164920 | CNVD |
Schizophrenia | 23813976 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Breast cancer | 21364760 | CNVD |
Non-small cell lung cancer | 16651412 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr20:15300800-15302400 | Enhancers | HMEC | breast |
2 | chr20:15301000-15302400 | Enhancers | Fetal Heart | heart |
3 | chr20:15301400-15302400 | Enhancers | NHEK | skin |
4 | chr20:15301600-15302600 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
5 | chr20:15302000-15303600 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
6 | chr20:15302200-15303200 | Weak transcription | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
7 | chr20:15302200-15303800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
8 | chr20:15302400-15303200 | Weak transcription | Fetal Heart | heart |
9 | chr20:15302400-15303200 | Weak transcription | HMEC | breast |
10 | chr20:15302600-15304800 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
11 | chr20:15303200-15303400 | Enhancers | HMEC | breast |
12 | chr20:15303200-15303800 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
13 | chr20:15303200-15304200 | Enhancers | Fetal Heart | heart |
14 | chr20:15303400-15308800 | Weak transcription | HMEC | breast |