Variant report
| Variant | nsv972994 |
|---|---|
| Chromosome Location | chr12:85373190-85377981 |
| 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 |
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs386377221 | chr12:85373190-85373191 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs563863294 | chr12:85373203-85373204 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs115487830 | chr12:85373233-85373234 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs367701645 | chr12:85373238-85373239 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs552219144 | chr12:85373277-85373278 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs570365925 | chr12:85373293-85373294 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs192088183 | chr12:85373312-85373313 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs546521076 | chr12:85373330-85373331 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs549571106 | chr12:85373343-85373344 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs147028835 | chr12:85373351-85373352 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs182991861 | chr12:85373407-85373408 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs535308714 | chr12:85373423-85373424 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs556888149 | chr12:85373444-85373445 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs148432332 | chr12:85373460-85373461 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs142539711 | chr12:85373461-85373462 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs558976574 | chr12:85373515-85373516 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs73180513 | chr12:85373532-85373533 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs374541306 | chr12:85373565-85373566 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs565914872 | chr12:85373577-85373578 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs150996532 | chr12:85373587-85373588 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs533397813 | chr12:85373630-85373631 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs186960222 | chr12:85373725-85373726 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs73180516 | chr12:85373739-85373740 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 24 | rs563749614 | chr12:85373742-85373743 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs550038838 | chr12:85373785-85373786 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs113533760 | chr12:85373791-85373792 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs191541072 | chr12:85373808-85373809 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs564189142 | chr12:85373825-85373826 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs184864484 | chr12:85373885-85373886 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs546180884 | chr12:85373898-85373899 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs567678627 | chr12:85373913-85373914 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs372064544 | chr12:85373921-85373922 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs35435905 | chr12:85373950-85373951 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs535366453 | chr12:85373974-85373975 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs550823847 | chr12:85373975-85373976 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs376315865 | chr12:85374042-85374043 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs539597299 | chr12:85374053-85374054 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs558831640 | chr12:85374078-85374079 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs577405589 | chr12:85374086-85374087 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs535079124 | chr12:85374093-85374094 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs187693528 | chr12:85374098-85374099 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs11116673 | chr12:85374102-85374103 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 43 | rs542171955 | chr12:85374107-85374108 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs140911082 | chr12:85374116-85374117 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs111738816 | chr12:85374118-85374119 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs112357774 | chr12:85374119-85374120 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs372027455 | chr12:85374142-85374143 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs557615342 | chr12:85374162-85374163 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs185645060 | chr12:85374181-85374182 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs546377613 | chr12:85374194-85374195 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:66)
| 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 |
| 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 |
| 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 |
| Acute myeloid leukemia | 21251322 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| abnormal development | 18461090 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | 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 |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Cancer | 20164920 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:85369600-85384400 | Weak transcription | Hela-S3 | cervix |
| 2 | chr12:85369800-85376800 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 3 | chr12:85372400-85373400 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 4 | chr12:85372600-85373200 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 5 | chr12:85373000-85373200 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 6 | chr12:85373000-85376800 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 7 | chr12:85373200-85376800 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
| 8 | chr12:85373400-85376800 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
| 9 | chr12:85376400-85377600 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 10 | chr12:85376600-85377400 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 11 | chr12:85376600-85377400 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 12 | chr12:85376600-85377600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 13 | chr12:85376800-85377400 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 14 | chr12:85376800-85377400 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 15 | chr12:85376800-85377600 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 16 | chr12:85376800-85377600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 17 | chr12:85376800-85377600 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 18 | chr12:85377000-85377600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 19 | chr12:85377200-85377400 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 20 | chr12:85377400-85378600 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 21 | chr12:85377600-85378600 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
