Variant report
| Variant | nsv826407 |
|---|---|
| Chromosome Location | chr12:67297175-67297643 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:6 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:67297065..67298731-chr12:67613597..67614634,5 | MCF-7 | breast: | |
| 2 | chr12:67297515..67298406-chr12:67615824..67616730,3 | MCF-7 | breast: | |
| 3 | chr12:67296029..67298947-chr12:67402634..67404774,2 | K562 | blood: | |
| 4 | chr12:67296511..67299023-chr12:67323435..67324974,2 | MCF-7 | breast: | |
| 5 | chr12:67296662..67299325-chr12:67460578..67464881,5 | MCF-7 | breast: | |
| 6 | chr12:67289452..67290999-chr12:67296445..67299201,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000256248 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:20 , 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 | rs1995504 | chr12:67297208-67297209 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs191563693 | chr12:67297214-67297215 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs1995503 | chr12:67297235-67297236 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs562713806 | chr12:67297273-67297274 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs574877077 | chr12:67297288-67297289 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs541916018 | chr12:67297296-67297297 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs148731850 | chr12:67297300-67297301 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs183500538 | chr12:67297329-67297330 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs527933439 | chr12:67297377-67297378 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs116652239 | chr12:67297382-67297383 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs114253125 | chr12:67297404-67297405 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs10878520 | chr12:67297417-67297418 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs12580443 | chr12:67297458-67297459 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs568719560 | chr12:67297509-67297510 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 15 | rs529684256 | chr12:67297531-67297532 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 16 | rs189997777 | chr12:67297542-67297543 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 17 | rs34409679 | chr12:67297548-67297549 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 18 | rs115592024 | chr12:67297569-67297570 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 19 | rs533773924 | chr12:67297634-67297635 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 20 | rs10878521 | chr12:67297637-67297638 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:82)
| Disease | PMID | Source |
|---|---|---|
| Wilms tumour | 21544195 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Autism | 22495311 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Breast cancer | 21949216 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 21637783 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Gastrointestinal stromal cancer | 20470368 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| liposarcomas | 17372913 | CNVD |
| Non-small cell lung cancer | 24170126 | CNVD |
| Cancer | 16751803 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 21785460 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Melanoma | 18172304 | CNVD |
| Glioblastoma multiforme | 21390271 | CNVD |
| Cancer | 20164919 | CNVD |
| Leukemia | 18628472 | CNVD |
| Fibroblasts | 20926602 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Follicular lymphoma | 18703704 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Lung cancer | 16773561 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Mental retardation | 17220210 | CNVD |
| Osteopoikilosis | 17220210 | CNVD |
| short stature | 17220210 | CNVD |
| Burkitt''s lymphoma | 20823134 | CNVD |
| abnormal development | 18461090 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Breast cancer | 16620391 | CNVD |
| Neuroticism | 17667963 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Breast cancer | 22048815 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 21113617 | CNVD |
| Glioblastoma multiforme | 22291905 | CNVD |
| Glioblastoma multiforme | 19435819 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Lung cancer | 17925434 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Disease | 21505450 | CNVD |
| craniofacial dysmorphism | 21918468 | CNVD |
| Glioblastoma multiforme | 21569311 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:67293000-67298800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr12:67293200-67298000 | Weak transcription | Colon Smooth Muscle | Colon |
| 3 | chr12:67293200-67298000 | Weak transcription | Psoas Muscle | Psoas |
| 4 | chr12:67293400-67304000 | Weak transcription | Primary T cells fromperipheralblood | blood |
| 5 | chr12:67296000-67297600 | Weak transcription | Primary T helper memory cells from peripheral blood 2 | blood |
| 6 | chr12:67296000-67297800 | Weak transcription | Primary T helper naive cells from peripheral blood | blood |
| 7 | chr12:67296000-67299000 | Weak transcription | NHEK | skin |
| 8 | chr12:67296000-67300400 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 9 | chr12:67296200-67297600 | Weak transcription | Primary T helper cells PMA-I stimulated | -- |
| 10 | chr12:67296200-67297800 | Weak transcription | Primary T helper naive cells fromperipheralblood | blood |
| 11 | chr12:67296400-67298800 | Weak transcription | HMEC | breast |
| 12 | chr12:67296800-67299800 | Enhancers | Primary T cells from cord blood | blood |
| 13 | chr12:67297600-67298000 | Enhancers | Primary T helper cells PMA-I stimulated | -- |
| 14 | chr12:67297600-67298200 | Enhancers | Primary T helper memory cells from peripheral blood 2 | blood |
