Variant report
| Variant | esv2639295 |
|---|---|
| Chromosome Location | chr2:86804919-86806455 |
| 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 | chr2:86789062..86793167-chr2:86801571..86804924,6 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000115561 | chromatin interactions |
| ENSG00000228363 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:31 , 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 | rs372609333 | chr2:86804962-86804963 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs532034516 | chr2:86804970-86804971 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs371428705 | chr2:86804975-86804976 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs138517386 | chr2:86805029-86805030 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs376091000 | chr2:86805070-86805071 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs548626812 | chr2:86805094-86805095 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs567123244 | chr2:86805117-86805118 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs540667516 | chr2:86805186-86805187 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs534142675 | chr2:86805215-86805216 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs1080551 | chr2:86805281-86805282 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 11 | rs570858176 | chr2:86805294-86805295 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs533121002 | chr2:86805349-86805350 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs538389354 | chr2:86805380-86805381 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs556685257 | chr2:86805398-86805399 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs552520202 | chr2:86805421-86805422 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs574914539 | chr2:86805431-86805432 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs371561366 | chr2:86805476-86805477 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs535821219 | chr2:86805516-86805517 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs554584303 | chr2:86805553-86805554 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs117984172 | chr2:86805562-86805563 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs367547124 | chr2:86805586-86805587 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs570545185 | chr2:86805594-86805595 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs142018476 | chr2:86805610-86805611 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs576620680 | chr2:86805611-86805612 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs543934099 | chr2:86805620-86805621 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs562219556 | chr2:86805626-86805627 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs529661145 | chr2:86805671-86805672 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs59026369 | chr2:86805690-86805691 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 29 | rs560631109 | chr2:86805702-86805703 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs527938880 | chr2:86805725-86805726 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs2887019 | chr2:86805743-86805744 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:48)
| Disease | PMID | Source |
|---|---|---|
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Adrenal tumor | 17535989 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Medulloblastoma | 17522785 | CNVD |
| Cancer | 23418310 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Cancer | 20164919 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Autism | 17483303 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Medulloblastoma | 20607354 | CNVD |
| Autism | 22495311 | CNVD |
| Autism | 18522746 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Seminomas | 18059402 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Breast cancer | 21990379 | CNVD |
| Astrocytoma | 22246337 | CNVD |
| Papillary thyroid carcinoma | 22161024 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Schizophrenia | 21399695 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:86801400-86805800 | Enhancers | Primary neutrophils fromperipheralblood | blood |
