Variant report
| Variant | nsv558370 |
|---|---|
| Chromosome Location | chr12:37992511-38444056 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:9)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:9 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:38032931..38033431-chr6:58776879..58777388,2 | MCF-7 | breast: | |
| 2 | chr12:38143553..38144054-chr18:18519761..18520264,2 | MCF-7 | breast: | |
| 3 | chr12:38032912..38033432-chr6:58774035..58775015,2 | MCF-7 | breast: | |
| 4 | chr12:38092578..38093097-chr2:92306640..92307159,2 | MCF-7 | breast: | |
| 5 | chr12:38062177..38062716-chr12:38709963..38710509,2 | MCF-7 | breast: | |
| 6 | chr11:48862246..48863766-chr12:38036979..38038502,2 | MCF-7 | breast: | |
| 7 | chr12:38031932..38033432-chr6:58775709..58777615,2 | MCF-7 | breast: | |
| 8 | chr12:38038013..38039001-chr3:156392284..156392894,2 | MCF-7 | breast: | |
| 9 | chr12:38031911..38033432-chr6:58776341..58779018,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000175548 | chromatin interactions |
| ENSG00000163659 | chromatin interactions |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs12312188 | chr12:37992511-37992512 | ZNF genes & repeats Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs2892302 | chr12:37992541-37992542 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs199576380 | chr12:37992558-37992559 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs555752335 | chr12:37992563-37992564 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs111982291 | chr12:37992595-37992596 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs113280083 | chr12:37992599-37992600 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs192493747 | chr12:37992602-37992603 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs185746963 | chr12:37992604-37992605 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs145156181 | chr12:37992611-37992612 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs78715492 | chr12:37992612-37992613 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs145885258 | chr12:37992615-37992616 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs2387447 | chr12:37992623-37992624 | ZNF genes & repeats Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs61101079 | chr12:37992641-37992642 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs138667257 | chr12:37992654-37992655 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs540343769 | chr12:37992656-37992657 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs201605944 | chr12:37992667-37992668 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs559854074 | chr12:37992672-37992673 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs188087278 | chr12:37992676-37992677 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs529422432 | chr12:37992684-37992685 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs199936859 | chr12:37992698-37992699 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs200857895 | chr12:37992702-37992703 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs201546863 | chr12:37992710-37992711 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs549150150 | chr12:37992711-37992712 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs78804825 | chr12:37992712-37992713 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs375415676 | chr12:37992718-37992719 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs549356676 | chr12:37992719-37992720 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs111385791 | chr12:37992740-37992741 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs113864807 | chr12:37992745-37992746 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs531545829 | chr12:37992760-37992761 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs147168039 | chr12:37992763-37992764 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs369366126 | chr12:37992767-37992768 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs202111679 | chr12:37992770-37992771 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs562872270 | chr12:37992785-37992786 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs200416869 | chr12:37992796-37992797 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs531907539 | chr12:37992797-37992798 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs552088218 | chr12:37992798-37992799 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs201131462 | chr12:37992801-37992802 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs377462651 | chr12:37992805-37992806 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs190650482 | chr12:37992808-37992809 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs534376517 | chr12:37992826-37992827 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs150441796 | chr12:37992829-37992830 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs138117126 | chr12:37992831-37992832 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs370926255 | chr12:37992832-37992833 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs535948812 | chr12:37992847-37992848 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs555738245 | chr12:37992849-37992850 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs575674601 | chr12:37992870-37992871 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs74221309 | chr12:37992871-37992872 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs375161977 | chr12:37992873-37992874 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs538540082 | chr12:37992880-37992881 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs571182783 | chr12:37992885-37992886 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:63)
| Disease | PMID | Source |
|---|---|---|
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Seminomas | 18059402 | CNVD |
| 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 |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Cancer | 20164919 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Breast cancer | 17133270 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | 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 |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Cancer | 21183584 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Lissencephaly | 21572526 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Autism | 20858243 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| Osteosarcoma | 21215367 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| Cancer | 21272361 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:37989800-38041200 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 2 | chr12:37990000-37993400 | ZNF genes & repeats | Primary T cells from cord blood | blood |
| 3 | chr12:37990000-38040800 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 4 | chr12:37990400-37993600 | Weak transcription | Psoas Muscle | Psoas |
| 5 | chr12:37990400-38014000 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 6 | chr12:37991400-37993200 | ZNF genes & repeats | Primary hematopoietic stem cells | blood |
| 7 | chr12:37991600-37994000 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
| 8 | chr12:37991600-37994400 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 9 | chr12:37991800-37998200 | Weak transcription | K562 | blood |
| 10 | chr12:37993600-37994400 | Active TSS | Psoas Muscle | Psoas |
| 11 | chr12:37995200-38003400 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
| 12 | chr12:37997200-38000200 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
| 13 | chr12:37997400-37997800 | ZNF genes & repeats | Fetal Brain Male | brain |
| 14 | chr12:37997400-37998400 | ZNF genes & repeats | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 15 | chr12:37997800-37998800 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell |
| 16 | chr12:37997800-38000200 | ZNF genes & repeats | HepG2 | liver |
| 17 | chr12:37998000-37998400 | ZNF genes & repeats | Primary hematopoietic stem cells short term culture | blood |
| 18 | chr12:37998000-37998600 | ZNF genes & repeats | iPS-15b Cell Line | embryonic stem cell |
| 19 | chr12:37998000-38002400 | ZNF genes & repeats | Primary T cells from cord blood | blood |
| 20 | chr12:37998000-38002800 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 21 | chr12:37998200-37998400 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 22 | chr12:37998200-37998400 | Bivalent Enhancer | H9 Derived Neuron Cultured Cells | ES cell derived |
| 23 | chr12:37998200-37998400 | ZNF genes & repeats | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 24 | chr12:37998200-37998400 | ZNF genes & repeats | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 25 | chr12:37998200-37998400 | ZNF genes & repeats | Primary T helper naive cells from peripheral blood | blood |
| 26 | chr12:37998200-37998400 | ZNF genes & repeats | Primary T helper naive cells fromperipheralblood | blood |
| 27 | chr12:37998200-37998400 | ZNF genes & repeats | Primary T helper cells PMA-I stimulated | -- |
| 28 | chr12:37998200-37998400 | ZNF genes & repeats | Primary T helper 17 cells PMA-I stimulated | -- |
| 29 | chr12:37998200-37998400 | ZNF genes & repeats | Primary T regulatory cells fromperipheralblood | blood |
| 30 | chr12:37998200-37998400 | ZNF genes & repeats | Primary T cells effector/memory enriched fromperipheralblood | blood |
| 31 | chr12:37998200-37998400 | Enhancers | Aorta | Aorta |
| 32 | chr12:37998200-37998400 | ZNF genes & repeats | Liver | Liver |
| 33 | chr12:37998200-37998400 | ZNF genes & repeats | Brain Cingulate Gyrus | brain |
| 34 | chr12:37998200-37998400 | ZNF genes & repeats | Brain Hippocampus Middle | brain |
| 35 | chr12:37998200-37998400 | ZNF genes & repeats | Brain Inferior Temporal Lobe | brain |
| 36 | chr12:37998200-37998400 | ZNF genes & repeats | Brain Dorsolateral Prefrontal Cortex | brain |
| 37 | chr12:37998200-37998400 | ZNF genes & repeats | Brain Substantia Nigra | brain |
| 38 | chr12:37998200-37998400 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 39 | chr12:37998200-37998400 | ZNF genes & repeats | Rectal Mucosa Donor 31 | rectum |
| 40 | chr12:37998200-37998400 | ZNF genes & repeats | Skeletal Muscle Female | skeletal muscle |
| 41 | chr12:37998200-37998400 | ZNF genes & repeats | Stomach Mucosa | stomach |
| 42 | chr12:37998200-37998400 | ZNF genes & repeats | Dnd41 | blood |
| 43 | chr12:37998200-37998400 | ZNF genes & repeats | HMEC | breast |
| 44 | chr12:37998200-37998400 | ZNF genes & repeats | HSMMtube | muscle |
| 45 | chr12:37998200-37998400 | ZNF genes & repeats | K562 | blood |
| 46 | chr12:37998200-37998400 | ZNF genes & repeats | NH-A | brain |
| 47 | chr12:37998200-37998400 | ZNF genes & repeats | NHLF | lung |
| 48 | chr12:37998200-37998600 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
| 49 | chr12:37998200-38000000 | ZNF genes & repeats | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 50 | chr12:37998400-37999200 | Weak transcription | Brain Cingulate Gyrus | brain |
