Variant report
| Variant | esv3435740 |
|---|---|
| Chromosome Location | chr2:188703571-188704083 |
| 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:25 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs189403394 | chr2:188703605-188703606 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs181412220 | chr2:188703653-188703654 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs113752668 | chr2:188703665-188703666 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs184367723 | chr2:188703672-188703673 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs574607582 | chr2:188703676-188703677 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs111449659 | chr2:188703695-188703696 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs563458739 | chr2:188703724-188703725 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs114235003 | chr2:188703774-188703775 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs74578959 | chr2:188703796-188703797 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs532366242 | chr2:188703814-188703815 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs146496506 | chr2:188703866-188703867 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs77481638 | chr2:188703868-188703869 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs4666744 | chr2:188703897-188703898 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs13018546 | chr2:188703907-188703908 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs147529260 | chr2:188703928-188703929 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs140223602 | chr2:188703949-188703950 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs370508283 | chr2:188703969-188703970 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs145538448 | chr2:188703982-188703983 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs537696393 | chr2:188703993-188703994 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs67830058 | chr2:188704032-188704033 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 21 | rs571133382 | chr2:188704053-188704054 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs534294922 | chr2:188704054-188704055 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs553020112 | chr2:188704059-188704060 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs533280768 | chr2:188704068-188704069 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs116247812 | chr2:188704070-188704071 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:49)
| 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 |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | 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 |
| Prostate cancer | 18632612 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Facial dysmorphism | 20548289 | CNVD |
| Mental retardation | 20548289 | CNVD |
| Biliary cancer | 20360734 | CNVD |
| Breast cancer | 20360734 | CNVD |
| Coronary artery disease | 20360734 | CNVD |
| Crohn''s disease | 20360734 | CNVD |
| Hypertension | 20360734 | CNVD |
| Rheumatoid arthritis | 20360734 | CNVD |
| Type 1 diabetes | 20360734 | CNVD |
| Type 2 diabetes | 20360734 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Cancer | 21183584 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Autism | 19329560 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Tetralogy of Fallot | 22912587 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:188703400-188704000 | Enhancers | Stomach Mucosa | stomach |
| 2 | chr2:188703600-188703800 | Enhancers | Aorta | Aorta |
| 3 | chr2:188703600-188704400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 4 | chr2:188703800-188716800 | Weak transcription | Aorta | Aorta |
