Variant report
Variant | esv3411904 |
---|---|
Chromosome Location | chr4:1059276-1059786 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- 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 | rs77408406 | chr4:1059296-1059297 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs565069775 | chr4:1059314-1059315 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs71299247 | chr4:1059317-1059318 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs144399534 | chr4:1059318-1059319 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs60877270 | chr4:1059326-1059327 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs6851243 | chr4:1059327-1059328 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs143009328 | chr4:1059375-1059376 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs544444207 | chr4:1059404-1059405 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs572515369 | chr4:1059436-1059437 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs189143145 | chr4:1059444-1059445 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs373551967 | chr4:1059470-1059471 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs62294715 | chr4:1059476-1059477 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs555478832 | chr4:1059509-1059510 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs12644767 | chr4:1059512-1059513 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs375649171 | chr4:1059544-1059545 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs574134700 | chr4:1059559-1059560 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs560091662 | chr4:1059573-1059574 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs527337846 | chr4:1059599-1059600 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs180720807 | chr4:1059608-1059609 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs10031302 | chr4:1059664-1059665 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
21 | rs571628536 | chr4:1059694-1059695 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs532533474 | chr4:1059703-1059704 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs144654020 | chr4:1059704-1059705 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs568959850 | chr4:1059758-1059759 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs536340617 | chr4:1059761-1059762 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs185328923 | chr4:1059782-1059783 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Myelofibrosis | 22110671 | CNVD |
Wolf-Hirschhorn syndrome | 21549014 | CNVD |
Breast cancer | 21806811 | CNVD |
Wolf-Hirschhorn syndrome | 22283845 | CNVD |
Wolf-Hirschhorn syndrome | 16773131 | CNVD |
Mental retardation | 16773131 | CNVD |
Wolf-Hirschhorn syndrome | 22470819 | CNVD |
Wolf-Hirschhorn syndrome | 18541967 | CNVD |
sporadic birth defects | 19047251 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Retinitis pigmentosa | 18421352 | CNVD |
Wolf-Hirschhorn syndrome | 19259404 | CNVD |
Bladder cancer | 19242612 | CNVD |
Breast cancer | 19242612 | CNVD |
Congenital anomalies of the kidney and urinary tract | 19242612 | CNVD |
abnormal development | 18461090 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
Wilms tumour | 21544195 | CNVD |
Melanoma | 20688739 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 17603634 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Neuroblastoma | 17533364 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Cancer | 21637783 | CNVD |
Melanoma | 21693616 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Cervical cancer | 21062161 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Chordoma | 21602918 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Neuroblastoma | 18923191 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Breast cancer | 17142309 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Developmental delay | 21147756 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Lung cancer | 18438408 | CNVD |
Prostate cancer | 18632612 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Autism | 22495311 | CNVD |
Breast cancer | 21509527 | CNVD |
Non-syndromic sensorineural hearing loss | 22297974 | CNVD |
Breast cancer | 20932292 | CNVD |
Cancer | 20164919 | CNVD |
Type 2 diabetes | 21754918 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:1053400-1064200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
2 | chr4:1056400-1062400 | Weak transcription | Primary T helper naive cells from peripheral blood | blood |
3 | chr4:1059200-1059800 | Enhancers | Ovary | ovary |