Variant report
| Variant | nsv820475 |
|---|---|
| Chromosome Location | chr5:146622514-146623118 |
| 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 | chr5:146617599..146619376-chr5:146621089..146623393,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs4705139 | chr5:146622525-146622526 | Weak transcription Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs542252945 | chr5:146622559-146622560 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs376300281 | chr5:146622734-146622735 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs182452133 | chr5:146622761-146622762 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs558039074 | chr5:146622787-146622788 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs576210299 | chr5:146622789-146622790 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs550420265 | chr5:146622863-146622864 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs62380968 | chr5:146622882-146622883 | Weak transcription Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs188160626 | chr5:146622985-146622986 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs538844779 | chr5:146623083-146623084 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs552668810 | chr5:146623084-146623085 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs80236635 | chr5:146623103-146623104 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs575848745 | chr5:146623112-146623113 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:75)
| Disease | PMID | Source |
|---|---|---|
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Phyllodes tumor | 17334353 | CNVD |
| Malaria | 21533027 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Cancer | 20164919 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Cancer | 16751803 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Melanoma | 18172304 | CNVD |
| Glioma | 20126413 | CNVD |
| Cancer | 22429812 | CNVD |
| Cancer | 21637783 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Leukemia | 17361228 | CNVD |
| Myelodysplastic syndrome | 18508791 | CNVD |
| 5q-syndrome | 17576883 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Lung cancer | 16740712 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Esophageal adenocarcinoma | 19417022 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Renal cell carcinoma | 19377443 | CNVD |
| Gastrointestinal stromal cancer | 19259404 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Non-small cell lung cancer | 20864512 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 18316590 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:146616400-146628000 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
| 2 | chr5:146619000-146624200 | Strong transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 3 | chr5:146622200-146640200 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
