Variant report
Variant | esv3348430 |
---|---|
Chromosome Location | chr20:15214002-15216300 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
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Variant related genes | Relation type |
---|---|
ENSG00000125848 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs538307424 | chr20:15214009-15214010 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs188831072 | chr20:15214016-15214017 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs181213446 | chr20:15214023-15214024 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs536195201 | chr20:15214034-15214035 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs576403788 | chr20:15214132-15214133 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs554502135 | chr20:15214163-15214164 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs115921040 | chr20:15214166-15214167 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs545147736 | chr20:15214232-15214233 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs533539637 | chr20:15214241-15214242 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs175292 | chr20:15214249-15214250 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
11 | rs175293 | chr20:15214267-15214268 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
12 | rs139946995 | chr20:15214271-15214272 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs562355246 | chr20:15214288-15214289 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs185312128 | chr20:15214356-15214357 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs6131653 | chr20:15214372-15214373 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs541746879 | chr20:15214384-15214385 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs6135369 | chr20:15214480-15214481 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs6135370 | chr20:15214489-15214490 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs559996304 | chr20:15214495-15214496 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs6135371 | chr20:15214512-15214513 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs527544260 | chr20:15214516-15214517 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs6135372 | chr20:15214528-15214529 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs552308387 | chr20:15214554-15214555 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs564456753 | chr20:15214559-15214560 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs531721809 | chr20:15214569-15214570 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs550289058 | chr20:15214584-15214585 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs142764265 | chr20:15214610-15214611 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs138948728 | chr20:15214612-15214613 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs7363655 | chr20:15214613-15214614 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs7363656 | chr20:15214615-15214616 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs6034133 | chr20:15214625-15214626 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs189878132 | chr20:15214627-15214628 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs547497740 | chr20:15214629-15214630 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs367590456 | chr20:15214657-15214658 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs113791164 | chr20:15214658-15214659 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs13042252 | chr20:15214724-15214725 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs13042259 | chr20:15214735-15214736 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs175294 | chr20:15214829-15214830 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs175295 | chr20:15214839-15214840 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs375762086 | chr20:15214880-15214881 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs536037229 | chr20:15214930-15214931 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs548144883 | chr20:15214935-15214936 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs175296 | chr20:15214970-15214971 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
44 | rs187328021 | chr20:15214972-15214973 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs527471916 | chr20:15214978-15214979 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs148818185 | chr20:15215062-15215063 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs570389422 | chr20:15215113-15215114 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs558504891 | chr20:15215259-15215260 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs143516269 | chr20:15215261-15215262 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs175297 | chr20:15215266-15215267 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | 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 |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr20:15202200-15217400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
2 | chr20:15215800-15217800 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
3 | chr20:15216000-15217000 | Enhancers | Fetal Brain Male | brain |
4 | chr20:15216000-15217400 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |