Variant report
Variant | esv1806640 |
---|---|
Chromosome Location | chr20:15710525-15720528 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:1 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr20:15719119..15720725-chr20:15723805..15725405,2 | MCF-7 | breast: |
No data |
No data |
No data |
No data |
Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page:
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs542736453 | chr20:15719264-15719265 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs150997335 | chr20:15719292-15719293 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs528485389 | chr20:15719329-15719330 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs573910697 | chr20:15719334-15719335 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs116801734 | chr20:15719343-15719344 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs571672179 | chr20:15719360-15719361 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs532656984 | chr20:15719421-15719422 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs551276524 | chr20:15719487-15719488 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs16996441 | chr20:15719488-15719489 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
10 | rs185560239 | chr20:15719578-15719579 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs555031897 | chr20:15719586-15719587 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs553254069 | chr20:15719657-15719658 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs567069737 | chr20:15719687-15719688 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs534414976 | chr20:15719688-15719689 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs573147087 | chr20:15719716-15719717 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs545419450 | chr20:15719745-15719746 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs531687393 | chr20:15719757-15719758 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs190065970 | chr20:15719763-15719764 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs140716399 | chr20:15719800-15719801 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs544948199 | chr20:15719815-15719816 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs369933760 | chr20:15719862-15719863 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs373406298 | chr20:15719884-15719885 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs76396237 | chr20:15719894-15719895 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs549874418 | chr20:15719949-15719950 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs575330803 | chr20:15719966-15719967 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs181708502 | chr20:15719976-15719977 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs76887361 | chr20:15719984-15719985 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs13045059 | chr20:15720025-15720026 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs540742498 | chr20:15720041-15720042 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs150084721 | chr20:15720043-15720044 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs529920770 | chr20:15720090-15720091 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs532565509 | chr20:15720095-15720096 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs73897847 | chr20:15720126-15720127 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs185602368 | chr20:15720134-15720135 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs548327563 | chr20:15720135-15720136 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs114340459 | chr20:15720146-15720147 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs566796133 | chr20:15720179-15720180 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs534377939 | chr20:15720191-15720192 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs114730026 | chr20:15720198-15720199 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs531994284 | chr20:15720230-15720231 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs6110768 | chr20:15720287-15720288 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs571134625 | chr20:15720373-15720374 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs2423986 | chr20:15720400-15720401 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs552176441 | chr20:15720461-15720462 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs556966081 | chr20:15720463-15720464 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs575544387 | chr20:15720502-15720503 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs6131691 | chr20:15720528-15720529 | Enhancers | 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 |
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 | chr20:15719200-15720800 | Enhancers | Hela-S3 | cervix |
2 | chr20:15719800-15721200 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
3 | chr20:15719800-15721600 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
4 | chr20:15720000-15721200 | Enhancers | HUES48 Cell Line | embryonic stem cell |
5 | chr20:15720000-15721600 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
6 | chr20:15720200-15721000 | Enhancers | HUES6 Cell Line | embryonic stem cell |
7 | chr20:15720200-15721200 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
8 | chr20:15720200-15721200 | Enhancers | Foreskin Melanocyte Primary Cells skin01 | Skin |
9 | chr20:15720400-15721000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
10 | chr20:15720400-15721000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
11 | chr20:15720400-15721400 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
12 | chr20:15720400-15722000 | Enhancers | HMEC | breast |