Variant report
| Variant | nsv583661 |
|---|---|
| Chromosome Location | chr2:173006618-173007203 |
| 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)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs538032968 | chr2:173006722-173006723 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs184540182 | chr2:173006730-173006731 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs139180397 | chr2:173006808-173006809 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs59708189 | chr2:173006811-173006812 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs397719494 | chr2:173006817-173006818 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs370818384 | chr2:173006818-173006819 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs567469333 | chr2:173006825-173006826 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs200156818 | chr2:173006826-173006827 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs571044402 | chr2:173006831-173006832 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs535908600 | chr2:173006832-173006833 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs553899567 | chr2:173006836-173006837 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs55872439 | chr2:173006837-173006838 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs186907536 | chr2:173006860-173006861 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs191859173 | chr2:173006880-173006881 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs6755845 | chr2:173006920-173006921 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs375026057 | chr2:173006926-173006927 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs564431565 | chr2:173006948-173006949 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs77904936 | chr2:173007088-173007089 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:47)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 17603634 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Cancer | 20164919 | CNVD |
| Autism | 18522746 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Seminomas | 18059402 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Autism | 16446308 | CNVD |
| Autism | 19401682 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Glioblastoma | 21080181 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Donnai-Barrow syndrome | 21085971 | CNVD |
| Breast cancer | 21045282 | CNVD |
| Limb abnormalities | 22140379 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Chronic myeloid leukemia | 21384125 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:173002200-173012600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr2:173004400-173007200 | Weak transcription | Fetal Brain Male | brain |
| 3 | chr2:173006400-173006800 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 4 | chr2:173006600-173007000 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 5 | chr2:173006600-173012600 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 6 | chr2:173006800-173010600 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
