Variant report
Variant | nsv596235 |
---|---|
Chromosome Location | chr4:175621502-175626769 |
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 | rs4695952 | chr4:175621502-175621503 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
2 | rs568012600 | chr4:175621511-175621512 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs544493763 | chr4:175621531-175621532 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs544044416 | chr4:175621556-175621557 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs144988347 | chr4:175621639-175621640 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs10014459 | chr4:175621665-175621666 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
7 | rs376493909 | chr4:175621679-175621680 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs552948582 | chr4:175621680-175621681 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs183900433 | chr4:175621683-175621684 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs34976724 | chr4:175621728-175621729 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs528083026 | chr4:175621733-175621734 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs540982362 | chr4:175621752-175621753 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs574668504 | chr4:175621753-175621754 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs188266844 | chr4:175621761-175621762 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs115665985 | chr4:175621771-175621772 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs530596475 | chr4:175621827-175621828 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs550247991 | chr4:175621839-175621840 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs570341719 | chr4:175621876-175621877 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs35706713 | chr4:175621878-175621879 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
20 | rs1601504 | chr4:175621899-175621900 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
21 | rs374396217 | chr4:175621919-175621920 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs534730123 | chr4:175621933-175621934 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs142290800 | chr4:175621949-175621950 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs563125737 | chr4:175621999-175622000 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs10004534 | chr4:175622002-175622003 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
26 | rs543961035 | chr4:175622107-175622108 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs557485501 | chr4:175622112-175622113 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs73004507 | chr4:175622174-175622175 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs111888528 | chr4:175622178-175622179 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs559795988 | chr4:175622187-175622188 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs2171138 | chr4:175622261-175622262 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
32 | rs541478823 | chr4:175622315-175622316 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs530875907 | chr4:175622344-175622345 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs374862595 | chr4:175622345-175622346 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs79782895 | chr4:175622348-175622349 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs370551242 | chr4:175622374-175622375 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs146071915 | chr4:175622384-175622385 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs570204197 | chr4:175622420-175622421 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs532971377 | chr4:175622469-175622470 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs567504785 | chr4:175622473-175622474 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs546729024 | chr4:175622477-175622478 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs28776253 | chr4:175622494-175622495 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
43 | rs535773481 | chr4:175622502-175622503 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs555351738 | chr4:175622504-175622505 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs568488411 | chr4:175622551-175622552 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs537431219 | chr4:175622556-175622557 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs111486602 | chr4:175622562-175622563 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs12646911 | chr4:175622590-175622591 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
49 | rs186456849 | chr4:175622606-175622607 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs567790477 | chr4:175622651-175622652 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Acute lymphoblastic leukemia | 22237106 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Chordoma | 21602918 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Breast cancer | 21858162 | CNVD |
Small bowel adenocarcinoma | 21586687 | CNVD |
Gastric cancer | 21586687 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Medulloblastoma | 18056178 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
4q-syndrome | 17576883 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Muscular dystrophy | 21149563 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Liposarcoma | 21253554 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Cervical cancer | 21062161 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Breast cancer | 16608533 | CNVD |
Wilms tumour | 21544195 | CNVD |
Lung cancer | 18438408 | CNVD |
Cancer | 22429812 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Breast cancer | 16272173 | CNVD |
Breast cancer | 17133270 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Congenital anomalies of the kidney and urinary tract | 20505237 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
Breast cancer | 21785460 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
small cell lung cancer | 20016488 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Breast cancer | 21633010 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Cancer | 20581869 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
abnormal development | 18461090 | CNVD |
Esophageal squamous carcinoma | 17470683 | CNVD |
Neuroblastoma | 16790693 | CNVD |
Lung cancer | 16773561 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Developmental delay | 22127048 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Neuroblastoma | 21899760 | CNVD |
Gastric adenocarcinoma | 19115996 | CNVD |
Cancer | 20164919 | CNVD |
Prostate cancer | 22341455 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:175619400-175622800 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
2 | chr4:175619600-175624000 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
3 | chr4:175622800-175623600 | Enhancers | Primary neutrophils fromperipheralblood | blood |
4 | chr4:175624000-175624600 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
5 | chr4:175624600-175628400 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |