Variant report
Variant | esv3332345 |
---|---|
Chromosome Location | chr2:67129118-67129478 |
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 |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr2:67121252..67123369-chr2:67127178..67130032,2 | MCF-7 | breast: |
No data |
No data |
No data |
No data |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs7587400 | chr2:67129177-67129178 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
2 | rs143333897 | chr2:67129180-67129181 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs79037466 | chr2:67129260-67129261 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs376020790 | chr2:67129288-67129289 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs575798010 | chr2:67129290-67129291 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs368522528 | chr2:67129292-67129293 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs182082071 | chr2:67129341-67129342 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs554883168 | chr2:67129368-67129369 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs574687138 | chr2:67129374-67129375 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs147526056 | chr2:67129415-67129416 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs560350441 | chr2:67129416-67129417 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs577290910 | chr2:67129430-67129431 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs138478041 | chr2:67129445-67129446 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs17032737 | chr2:67129455-67129456 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
15 | rs531651929 | chr2:67129467-67129468 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs185277751 | chr2:67129468-67129469 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Lynch syndrome | 18415027 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Ovarian neoplasms | 16753589 | 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 |
Hodgkin''s lymphoma | 17606441 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
Autism | 17483303 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
Medulloblastoma | 20607354 | CNVD |
Autism | 22495311 | CNVD |
Autism | 18522746 | CNVD |
Lung cancer | 18438408 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Melanoma | 18172304 | CNVD |
Cancer | 16751803 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Developmental delay | 21147756 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Seminomas | 18059402 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Cancer | 21183584 | CNVD |
Leukoplakia | 24403051 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Colorectal cancer | 16272173 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:67128200-67130800 | Enhancers | Fetal Heart | heart |
2 | chr2:67128400-67129200 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
3 | chr2:67128600-67129400 | Enhancers | Ovary | ovary |
4 | chr2:67128800-67129200 | Enhancers | HSMMtube | muscle |
5 | chr2:67129200-67129400 | Enhancers | Stomach Smooth Muscle | stomach |
6 | chr2:67129400-67129800 | Weak transcription | Ovary | ovary |