Variant report
Variant | nsv818164 |
---|---|
Chromosome Location | chr3:103700909-103719786 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:4 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr3:103709966..103710719-chr3:104179327..104180275,3 | MCF-7 | breast: | |
2 | chr3:103709950..103710945-chr3:103925530..103926295,2 | MCF-7 | breast: | |
3 | chr3:103706366..103707164-chr3:187218063..187218925,2 | MCF-7 | breast: | |
4 | chr18:59467934..59468577-chr3:103711169..103712107,2 | MCF-7 | breast: |
No data |
No data |
No data |
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs543758964 | chr3:103704402-103704403 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs187641477 | chr3:103704405-103704406 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs568828999 | chr3:103704416-103704417 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs544947042 | chr3:103704437-103704438 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs563332415 | chr3:103704500-103704501 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs377035896 | chr3:103704529-103704530 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs79718519 | chr3:103704559-103704560 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs537860414 | chr3:103704671-103704672 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs527517457 | chr3:103704778-103704779 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs192909447 | chr3:103704793-103704794 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs139104849 | chr3:103704801-103704802 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs62260060 | chr3:103704854-103704855 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
13 | rs577692896 | chr3:103704884-103704885 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs76609699 | chr3:103705047-103705048 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs550953938 | chr3:103705209-103705210 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs569315209 | chr3:103705214-103705215 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs199744603 | chr3:103705221-103705222 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs183497981 | chr3:103705241-103705242 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs149445169 | chr3:103705257-103705258 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs568495407 | chr3:103705266-103705267 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs188160516 | chr3:103705325-103705326 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs73849406 | chr3:103705354-103705355 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs537588147 | chr3:103705360-103705361 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs73849407 | chr3:103705449-103705450 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
25 | rs62260061 | chr3:103705493-103705494 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
26 | rs143963341 | chr3:103705511-103705512 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs560363095 | chr3:103705546-103705547 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs542808025 | chr3:103705554-103705555 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs572274959 | chr3:103705606-103705607 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs542762863 | chr3:103705609-103705610 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs560935730 | chr3:103705643-103705644 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs148628754 | chr3:103705690-103705691 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs551142284 | chr3:103705722-103705723 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs547362567 | chr3:103705745-103705746 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs562849607 | chr3:103705785-103705786 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs9840638 | chr3:103705800-103705801 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
37 | rs530124967 | chr3:103705809-103705810 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs548285696 | chr3:103705815-103705816 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs55889959 | chr3:103705892-103705893 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
40 | rs34898173 | chr3:103705899-103705900 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs534233758 | chr3:103705905-103705906 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs549542246 | chr3:103705918-103705919 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs142105351 | chr3:103705948-103705949 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs537523498 | chr3:103706028-103706029 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs201770963 | chr3:103706035-103706036 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs555872949 | chr3:103706084-103706085 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs552562004 | chr3:103706189-103706190 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs12498014 | chr3:103706274-103706275 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
49 | rs200337658 | chr3:103706395-103706396 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs376286036 | chr3:103706416-103706417 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Medulloblastoma | 21979893 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Retinoblastoma | 21504564 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Breast cancer | 17603634 | CNVD |
Uveal melanoma | 20484589 | CNVD |
Autism | 22495311 | CNVD |
Lung cancer | 18438408 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Cancer | 21183584 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Bipolar disorder | 20877625 | CNVD |
Bipolar disorder | 21956041 | CNVD |
Bipolar disorder | 22241247 | CNVD |
Biliary cancer | 18923514 | CNVD |
Prostate cancer | 21965145 | CNVD |
Cancer | 21129771 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Cervical cancer | 21062161 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Melanoma | 18172304 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Bipolar disorder | 18458673 | CNVD |
Breast cancer | 22032731 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Breast cancer | 16461572 | CNVD |
Neuroblastoma | 17533364 | CNVD |
microdeletion syndrome | 22180640 | CNVD |
Cervical Cancer | 21857958 | CNVD |
Melanoma | 21693616 | CNVD |
Lung cancer | 21426551 | CNVD |
Cancer | 21637783 | CNVD |
Cervical cancer | 21063398 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Liposarcoma | 21253554 | CNVD |
Oral cancer | 21386901 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Cancer | 22065749 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Ductal carcinoma | 22052326 | CNVD |
Breast cancer | 16608533 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Breast cancer | 21364760 | CNVD |
Developmental delay | 22180640 | CNVD |
Stenocardia | 21860640 | CNVD |
Vasospasm | 21860640 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:103704400-103704800 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
2 | chr3:103704600-103705000 | Enhancers | HepG2 | liver |
3 | chr3:103705000-103710000 | Weak transcription | HepG2 | liver |
4 | chr3:103707800-103708200 | Active TSS | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
5 | chr3:103710200-103710400 | Enhancers | HepG2 | liver |
6 | chr3:103710600-103711000 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |