Variant report
Variant | nsv526955 |
---|---|
Chromosome Location | chr4:131842439-131886381 |
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 | chr4:3075352..3076921-chr4:131867632..131869317,2 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000197386 | chromatin interactions |
ENSG00000251075 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs531758039 | chr4:131856616-131856617 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs534686590 | chr4:131856619-131856620 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs376823260 | chr4:131856678-131856679 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs141248121 | chr4:131856681-131856682 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs537234300 | chr4:131856696-131856697 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs545478590 | chr4:131856702-131856703 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs573858816 | chr4:131856711-131856712 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs542593372 | chr4:131856713-131856714 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs559667585 | chr4:131856781-131856782 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs573176192 | chr4:131856787-131856788 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs188657869 | chr4:131856866-131856867 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs565046769 | chr4:131856932-131856933 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs77913138 | chr4:131856973-131856974 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs544397091 | chr4:131857026-131857027 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs7658306 | chr4:131857035-131857036 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs376235953 | chr4:131857037-131857038 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs540399334 | chr4:131857050-131857051 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs530404651 | chr4:131857139-131857140 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs191334759 | chr4:131857151-131857152 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs182145133 | chr4:131857152-131857153 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs528085023 | chr4:131857172-131857173 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs146064031 | chr4:131857173-131857174 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs73850191 | chr4:131857185-131857186 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs538060892 | chr4:131857254-131857255 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs571362936 | chr4:131857318-131857319 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs547791973 | chr4:131857412-131857413 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs35248656 | chr4:131857431-131857432 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs551028808 | chr4:131857443-131857444 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs537173442 | chr4:131857459-131857460 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs557179509 | chr4:131857476-131857477 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs567901162 | chr4:131857499-131857500 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs536522193 | chr4:131857515-131857516 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs552992946 | chr4:131857516-131857517 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs138119996 | chr4:131857543-131857544 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs544990159 | chr4:131857583-131857584 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs187106288 | chr4:131857592-131857593 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs575311734 | chr4:131857633-131857634 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs35162821 | chr4:131857654-131857655 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs571523106 | chr4:131857662-131857663 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs374702359 | chr4:131857672-131857673 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs538910383 | chr4:131857722-131857723 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs530413511 | chr4:131857733-131857734 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs141966711 | chr4:131857746-131857747 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs146288940 | chr4:131857789-131857790 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs560615425 | chr4:131857799-131857800 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs139318034 | chr4:131857811-131857812 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs369075577 | chr4:131857936-131857937 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs370140395 | chr4:131857942-131857943 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs551375788 | chr4:131857943-131857944 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs571299624 | chr4:131857952-131857953 | Enhancers | 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 |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | 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 |
Breast cancer | 17603634 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Breast cancer | 16272173 | 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 |
Lung cancer | 19208797 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 21785460 | CNVD |
Lung cancer | 18438408 | CNVD |
Cancer | 22429812 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Cancer | 21183584 | CNVD |
primary effusion lymphomas | 17116491 | CNVD |
Splenic marginal zone lymphoma | 21957467 | 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 |
Breast cancer | 17393978 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Neuroblastoma | 21899760 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Colorectal cancer | 20459617 | CNVD |
Lung squamous cell carcinoma | 22363434 | CNVD |
Mental retardation | 17847001 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Autism | 18923514 | CNVD |
Autism | 22241247 | CNVD |
Mental retardation | 17901693 | CNVD |
Bipolar disorder | 19114987 | CNVD |
small cell lung cancer | 20016488 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:131856600-131856800 | Enhancers | HUES48 Cell Line | embryonic stem cell |
2 | chr4:131856600-131857800 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
3 | chr4:131856800-131857600 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
4 | chr4:131857600-131858400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
5 | chr4:131885200-131885800 | Active TSS | Fetal Heart | heart |
6 | chr4:131885800-131887600 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |