Variant report
| Variant | nsv593247 |
|---|---|
| Chromosome Location | chr4:1080391-1081252 |
| 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)
| No data |
| No data |
(count:2 , 50 per page) page:
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| No data |
| No data |
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Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs585735 | chr4:1080391-1080392 | Weak transcription Bivalent Enhancer Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 2 | rs192924988 | chr4:1080439-1080440 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs557052314 | chr4:1080533-1080534 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs575400148 | chr4:1080561-1080562 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs111216208 | chr4:1080798-1080799 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs186715978 | chr4:1080878-1080879 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs182748278 | chr4:1080911-1080912 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs111216249 | chr4:1080924-1080925 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs184801767 | chr4:1080935-1080936 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs540033010 | chr4:1080952-1080953 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs111216444 | chr4:1080953-1080954 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs188929651 | chr4:1081026-1081027 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs192985269 | chr4:1081039-1081040 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs185318226 | chr4:1081040-1081041 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs189379725 | chr4:1081045-1081046 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs542773933 | chr4:1081069-1081070 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs554254934 | chr4:1081165-1081166 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:67)
| 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 |
| Glioma | 20126413 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:1076800-1082400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 2 | chr4:1079400-1080400 | Enhancers | Primary Natural Killer cells fromperipheralblood | blood |
| 3 | chr4:1080000-1080400 | Bivalent Enhancer | Primary T cells fromperipheralblood | blood |
| 4 | chr4:1080000-1080400 | Enhancers | Spleen | Spleen |
| 5 | chr4:1080200-1086000 | Weak transcription | Pancreas | Pancrea |
| 6 | chr4:1080400-1081200 | Weak transcription | Primary Natural Killer cells fromperipheralblood | blood |
| 7 | chr4:1081200-1082600 | ZNF genes & repeats | Primary Natural Killer cells fromperipheralblood | blood |
