Variant report
| Variant | esv3339147 |
|---|---|
| Chromosome Location | chr12:75752285-75753383 |
| 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:37 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs144932432 | chr12:75752295-75752296 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs550510080 | chr12:75752300-75752301 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs564643541 | chr12:75752340-75752341 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs184592640 | chr12:75752363-75752364 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs201071454 | chr12:75752498-75752499 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs141752193 | chr12:75752517-75752518 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs142430106 | chr12:75752520-75752521 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs201802966 | chr12:75752529-75752530 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs552669827 | chr12:75752562-75752563 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs567475623 | chr12:75752574-75752575 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs566580574 | chr12:75752595-75752596 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs190324889 | chr12:75752612-75752613 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs34263443 | chr12:75752613-75752614 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs559204622 | chr12:75752618-75752619 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs112666558 | chr12:75752630-75752631 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs575860597 | chr12:75752666-75752667 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs113212906 | chr12:75752671-75752672 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs200557765 | chr12:75752679-75752680 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs75009372 | chr12:75752751-75752752 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs555337078 | chr12:75752779-75752780 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs575164278 | chr12:75752815-75752816 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs182572255 | chr12:75752886-75752887 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs560254946 | chr12:75752909-75752910 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs532650673 | chr12:75752930-75752931 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs147078132 | chr12:75752982-75752983 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs567422198 | chr12:75753015-75753016 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs562641570 | chr12:75753020-75753021 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs58126454 | chr12:75753095-75753096 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs71078724 | chr12:75753167-75753168 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs151298701 | chr12:75753170-75753171 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs79569066 | chr12:75753180-75753181 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs571747155 | chr12:75753226-75753227 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs141711987 | chr12:75753227-75753228 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs11180474 | chr12:75753243-75753244 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 35 | rs147581371 | chr12:75753285-75753286 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs373932591 | chr12:75753317-75753318 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs147756195 | chr12:75753339-75753340 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:71)
| 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 |
| 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 |
| Cancer | 16751803 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Melanoma | 18172304 | CNVD |
| Glioblastoma multiforme | 21390271 | CNVD |
| Cancer | 20164919 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Burkitt''s lymphoma | 20823134 | CNVD |
| abnormal development | 18461090 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| craniofacial dysmorphism | 21918468 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Breast cancer | 22032731 | 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 |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Breast cancer | 22522925 | CNVD |
| early-passage human iPS cells | 21368824 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:75749600-75782800 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 2 | chr12:75749800-75771800 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
