Variant report
Variant | esv3465804 |
---|---|
Chromosome Location | chr4:99096149-99096798 |
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 | rs561639199 | chr4:99096169-99096170 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs139460999 | chr4:99096187-99096188 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs541256041 | chr4:99096219-99096220 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs113215317 | chr4:99096227-99096228 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs377030649 | chr4:99096240-99096241 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs75894715 | chr4:99096271-99096272 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs533424552 | chr4:99096289-99096290 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs551675773 | chr4:99096292-99096293 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs563305550 | chr4:99096298-99096299 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs551605426 | chr4:99096309-99096310 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs183092673 | chr4:99096350-99096351 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs7656196 | chr4:99096380-99096381 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs567652665 | chr4:99096413-99096414 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs369179476 | chr4:99096418-99096419 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs537234295 | chr4:99096426-99096427 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs549958959 | chr4:99096434-99096435 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs547262459 | chr4:99096439-99096440 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs147593507 | chr4:99096442-99096443 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs373438577 | chr4:99096443-99096444 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs116000829 | chr4:99096479-99096480 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs576068423 | chr4:99096484-99096485 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs11733614 | chr4:99096541-99096542 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs150043631 | chr4:99096556-99096557 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs187913797 | chr4:99096656-99096657 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs541148160 | chr4:99096707-99096708 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs145349343 | chr4:99096796-99096797 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs577829885 | chr4:99096798-99096799 | 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 |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Autism | 22495311 | 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 |
Melanoma | 18172304 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Breast cancer | 17603634 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Parkinson disease | 18923514 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Cancer | 21183584 | 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 |
Adenoid cystic carcinoma | 18698036 | CNVD |
Lung cancer | 19208797 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 21785460 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Lung cancer | 18438408 | CNVD |
Cancer | 22429812 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Autism | 18414403 | CNVD |
primary effusion lymphomas | 17116491 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 17133270 | CNVD |
Colorectal cancer | 20459617 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Congenital anomalies of the kidney and urinary tract | 20505237 | CNVD |
Breast cancer | 17393978 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Cancer | 19907438 | CNVD |
Prostate cancer | 16573809 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Schizophrenia | 19197363 | CNVD |
Melanoma | 20688739 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Breast cancer | 22522925 | CNVD |
Gastric cancer | 16891809 | CNVD |
Bipolar disorder | 19114987 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:99088200-99098200 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
2 | chr4:99092200-99097000 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
3 | chr4:99092400-99097400 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
4 | chr4:99092600-99097200 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
5 | chr4:99092600-99097200 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
6 | chr4:99092600-99097200 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
7 | chr4:99092600-99097600 | Weak transcription | H9 Cell Line | embryonic stem cell |
8 | chr4:99092800-99097000 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
9 | chr4:99093000-99098200 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |