Variant report
| Variant | nsv983234 |
|---|---|
| Chromosome Location | chr12:9416478-9431362 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:95)
- CpG islands (count:61)
- Chromatin interactive region (count:9)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:9429370-9429420 | A549 | lung: | n/a |
| 2 | chr12:9429370-9429420 | PFSK-1 | brain: | n/a |
| 3 | chr12:9429370-9429420 | MCF-7 | breast: | n/a |
| 4 | chr12:9429370-9429420 | NB4 | blood: | n/a |
| 5 | chr12:9429370-9429420 | HRPEpiC | eye: | n/a |
| 6 | chr12:9429370-9429420 | PrEC | prostate: | n/a |
| 7 | chr12:9429370-9429420 | BJ | skin: | n/a |
| 8 | chr12:9429370-9429420 | SKMC | muscle: | n/a |
| 9 | chr12:9429370-9429420 | GM12892 | blood: | n/a |
| 10 | chr12:9429370-9429420 | MCF10A-Er-Src | breast: | n/a |
| 11 | chr12:9429370-9429420 | H1-hESC | embryonic stem cell: | embryo |
| 12 | chr12:9429370-9429420 | ECC-1 | luminal epithelium: | n/a |
| 13 | chr12:9429370-9429420 | SK-N-SH | brain: | n/a |
| 14 | chr12:9429370-9429420 | AG04449 | skin: | fetal |
| 15 | chr12:9429370-9429420 | K562 | blood: | n/a |
| 16 | chr12:9429370-9429420 | HL-60 | blood: | n/a |
| 17 | chr12:9429370-9429420 | AG09319 | gingival: | n/a |
| 18 | chr12:9429370-9429420 | HEEpiC | esophagus: | n/a |
| 19 | chr12:9429370-9429420 | NHDF-neo | bronchial: | n/a |
| 20 | chr12:9429370-9429420 | NT2-D1 | testis: | n/a |
| 21 | chr12:9429370-9429420 | AG10803 | skin: | n/a |
| 22 | chr12:9429370-9429420 | ProgFib | skin: | n/a |
| 23 | chr12:9429370-9429420 | T-47D | breast: | n/a |
| 24 | chr12:9429370-9429420 | HUVEC | blood vessel: | n/a |
| 25 | chr12:9429370-9429420 | HepG2 | liver: | n/a |
| 26 | chr12:9429370-9429420 | ovcar-3 | ovarian: | n/a |
| 27 | chr12:9429370-9429420 | AG04450 | lung: | fetal |
| 28 | chr12:9429370-9429420 | Caco-2 | colon: | n/a |
| 29 | chr12:9429370-9429420 | PANC-1 | pancreas: | n/a |
| 30 | chr12:9429370-9429420 | GM12878 | blood: | n/a |
| 31 | chr12:9429370-9429420 | HRCEpiC | kidney: | n/a |
| 32 | chr12:9429370-9429420 | GM19239 | blood: | n/a |
| 33 | chr12:9429370-9429420 | BE2_C | brain: | n/a |
| 34 | chr12:9429370-9429420 | SK-N-MC | brain: | n/a |
| 35 | chr12:9429370-9429420 | HEK293 | kidney: | embryo |
| 36 | chr12:9429370-9429420 | RPTEC | kidney: | n/a |
| 37 | chr12:9429370-9429420 | GM06990 | blood: | n/a |
| 38 | chr12:9429370-9429420 | Hela-S3 | cervix: | n/a |
| 39 | chr12:9429370-9429420 | Jurkat | blood: | n/a |
| 40 | chr12:9429370-9429420 | AoSMC | blood vessel: | n/a |
| 41 | chr12:9429370-9429420 | HPAEpiC | pulmonary alveolar: | n/a |
| 42 | chr12:9429370-9429420 | HNPCEpiC | eye: | n/a |
| 43 | chr12:9429370-9429420 | U87 | brain: | n/a |
| 44 | chr12:9429370-9429420 | IMR90 | lung: | fetal |
| 45 | chr12:9429370-9429420 | AG09309 | skin: | n/a |
| 46 | chr12:9429370-9429420 | HRE | kidney: | n/a |
| 47 | chr12:9429370-9429420 | GM12891 | blood: | n/a |
| 48 | chr12:9429370-9429420 | NHBE | bronchial: | n/a |
| 49 | chr12:9429370-9429420 | HAEpiC | amniotic membrane: | n/a |
| 50 | chr12:9429370-9429420 | HCPEpiC | choroid plexus: | n/a |
(count:9 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:9426747..9429597-chr12:9429959..9432578,2 | K562 | blood: | |
| 2 | chr12:9423490..9426134-chr12:9432405..9434234,2 | MCF-7 | breast: | |
| 3 | chr12:9423398..9426359-chr12:9434637..9436174,2 | K562 | blood: | |
| 4 | chr12:9420935..9423914-chr12:9424246..9425796,2 | MCF-7 | breast: | |
| 5 | chr12:9426602..9429608-chr12:9430197..9433298,3 | MCF-7 | breast: | |
| 6 | chr12:9428390..9430208-chr12:9433960..9436399,2 | K562 | blood: | |
| 7 | chr12:9423398..9429968-chr12:9431078..9436174,6 | K562 | blood: | |
| 8 | chr12:9417669..9420376-chr12:9420415..9423122,2 | MCF-7 | breast: | |
| 9 | chr12:9420935..9423914-chr12:9424246..9425796,2 | MCF-7 | breast: |
(count:1 , 50 per page) page:
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| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-KLRG1-3 | chr12:9419721-9419949 | l_599_chr12:9406531-9439851_testes |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| A2MP1 | TF binding region |
| ENSG00000111788 | TF binding region |
| A2MP1 | CpG island |
| ENSG00000111788 | CpG island |
| ENSG00000256069 | chromatin interactions |
| ENSG00000111788 | chromatin interactions |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs182219433 | chr12:9416750-9416751 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs149595406 | chr12:9416772-9416773 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs75307212 | chr12:9416899-9416900 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs143280338 | chr12:9416901-9416902 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs7980256 | chr12:9416922-9416923 | Enhancers | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 6 | rs148308784 | chr12:9416966-9416967 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs7967738 | chr12:9417026-9417027 | Enhancers | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 8 | rs184270172 | chr12:9417064-9417065 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs73236961 | chr12:9417236-9417237 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs4883226 | chr12:9417283-9417284 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 11 | rs112627611 | chr12:9417395-9417396 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs147536985 | chr12:9417396-9417397 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs542225778 | chr12:9417406-9417407 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs562395705 | chr12:9417411-9417412 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs140146851 | chr12:9417513-9417514 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs144016906 | chr12:9417529-9417530 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs79610574 | chr12:9417606-9417607 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs189060624 | chr12:9417607-9417608 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs115854839 | chr12:9417611-9417612 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs150674602 | chr12:9417641-9417642 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs533570242 | chr12:9417667-9417668 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs546419887 | chr12:9417670-9417671 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 23 | rs551581177 | chr12:9417679-9417680 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 24 | rs566214566 | chr12:9417691-9417692 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 25 | rs74061033 | chr12:9417706-9417707 | Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 26 | rs548593998 | chr12:9417709-9417710 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 27 | rs568482243 | chr12:9417711-9417712 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 28 | rs181151868 | chr12:9417730-9417731 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 29 | rs59729140 | chr12:9417756-9417757 | Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 30 | rs185649792 | chr12:9417821-9417822 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 31 | rs72165067 | chr12:9417991-9417992 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 32 | rs562536877 | chr12:9417994-9417995 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 33 | rs139865980 | chr12:9418037-9418038 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 34 | rs191184186 | chr12:9418042-9418043 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 35 | rs537166420 | chr12:9418140-9418141 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 36 | rs537761215 | chr12:9418204-9418205 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 37 | rs557987414 | chr12:9418214-9418215 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 38 | rs11326095 | chr12:9418226-9418227 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 39 | rs398018363 | chr12:9418234-9418235 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 40 | rs180707342 | chr12:9418376-9418377 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 41 | rs149915485 | chr12:9418395-9418396 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 42 | rs571397407 | chr12:9418456-9418457 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 43 | rs533978718 | chr12:9418501-9418502 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 44 | rs567558488 | chr12:9418509-9418510 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 45 | rs7959606 | chr12:9418545-9418546 | Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 46 | rs571142703 | chr12:9418575-9418576 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 47 | rs573351425 | chr12:9418590-9418591 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 48 | rs535923117 | chr12:9418598-9418599 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 49 | rs34608839 | chr12:9418628-9418629 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 50 | rs555812102 | chr12:9418756-9418757 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:79)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 17133270 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Ovine squamous-cell carcinoma | 17599052 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Cancer | 21183584 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Prostate cancer | 19156837 | CNVD |
| Emphysema | 19352772 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Malignant germ cell tumour | 17285132 | CNVD |
| Melanoma | 18172304 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Cancer | 16751803 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Seminomas | 18059402 | 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 |
| Testicular germ cell tumor | 18059402 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Cancer | 20164919 | CNVD |
| Epilepsy | 21858020 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| craniofacial dysmorphism | 21918468 | CNVD |
| Malignant peripheral nerve sheath tumor | 19844265 | CNVD |
| Chronic lymphocytic leukemia | 21049055 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Alzheimer''s disease | 17160897 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Breast cancer | 21364760 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Breast cancer | 21611746 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:9416800-9418800 | Enhancers | Hela-S3 | cervix |
| 2 | chr12:9418800-9423400 | Weak transcription | Hela-S3 | cervix |
| 3 | chr12:9420400-9421200 | Enhancers | NHEK | skin |
| 4 | chr12:9421200-9425800 | Weak transcription | NHEK | skin |
| 5 | chr12:9422400-9425800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 6 | chr12:9423400-9425600 | Enhancers | Hela-S3 | cervix |
| 7 | chr12:9425600-9426000 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
| 8 | chr12:9425600-9426000 | Flanking Active TSS | Hela-S3 | cervix |
| 9 | chr12:9425600-9426400 | Enhancers | Muscle Satellite Cultured Cells | -- |
| 10 | chr12:9425600-9427000 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 11 | chr12:9425600-9427000 | Enhancers | HMEC | breast |
| 12 | chr12:9425800-9426000 | Enhancers | Foreskin Fibroblast Primary Cells skin02 | Skin |
| 13 | chr12:9425800-9426200 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 14 | chr12:9425800-9426400 | Enhancers | NHEK | skin |
| 15 | chr12:9425800-9426400 | Enhancers | Osteobl | bone |
| 16 | chr12:9425800-9426800 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
| 17 | chr12:9426000-9426400 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
| 18 | chr12:9426000-9427400 | Enhancers | Hela-S3 | cervix |
| 19 | chr12:9426400-9429400 | Weak transcription | NHEK | skin |
| 20 | chr12:9426800-9427000 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 21 | chr12:9429000-9429600 | Enhancers | H9 Cell Line | embryonic stem cell |
| 22 | chr12:9429200-9435200 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 23 | chr12:9429400-9429800 | Enhancers | NHEK | skin |
| 24 | chr12:9429400-9430000 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 25 | chr12:9429800-9435400 | Weak transcription | NHEK | skin |
