Variant report
| Variant | nsv559581 |
|---|---|
| Chromosome Location | chr12:84571480-84594196 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:52)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | CEBPB | chr12:84575641-84575858 | A549 | lung: | n/a | chr12:84575790-84575801 |
| 2 | CEBPB | chr12:84575615-84575954 | HepG2 | liver: | n/a | chr12:84575790-84575801 |
| 3 | CEBPB | chr12:84575648-84575974 | IMR90 | lung: | n/a | chr12:84575790-84575801 |
| 4 | CEBPB | chr12:84575678-84575942 | H1-hESC | embryonic stem cell: | n/a | chr12:84575790-84575801 |
| 5 | CTCF | chr12:84574150-84574183 | Lung_OC | lung: | n/a | n/a |
| 6 | E2F4 | chr12:84583913-84583956 | MCF10A-Er-Src | breast: | n/a | n/a |
| 7 | E2F4 | chr12:84571702-84571850 | MCF10A-Er-Src | breast: | n/a | n/a |
| 8 | EP300 | chr12:84579835-84580754 | SK-N-SH | brain: | n/a | n/a |
| 9 | EP300 | chr12:84584808-84585103 | SK-N-SH_RA | brain: | n/a | n/a |
| 10 | EP300 | chr12:84579965-84580860 | SK-N-SH | brain: | n/a | n/a |
| 11 | EP300 | chr12:84579907-84580671 | SK-N-SH_RA | brain: | n/a | n/a |
| 12 | EP300 | chr12:84579954-84580612 | SK-N-SH_RA | brain: | n/a | n/a |
| 13 | EP300 | chr12:84579885-84580873 | SK-N-SH | brain: | n/a | n/a |
| 14 | FOSL2 | chr12:84580016-84580730 | SK-N-SH | brain: | n/a | n/a |
| 15 | FOXM1 | chr12:84580208-84580679 | SK-N-SH | brain: | n/a | n/a |
| 16 | FOXM1 | chr12:84580127-84580698 | SK-N-SH | brain: | n/a | n/a |
| 17 | GATA2 | chr12:84580236-84580509 | SH-SY5Y | brain: | n/a | n/a |
| 18 | GATA3 | chr12:84580387-84580493 | SH-SY5Y | brain: | n/a | n/a |
| 19 | GATA3 | chr12:84578622-84578773 | SH-SY5Y | brain: | n/a | n/a |
| 20 | GATA3 | chr12:84579876-84580843 | SK-N-SH | brain: | n/a | n/a |
| 21 | GATA3 | chr12:84579976-84580774 | SK-N-SH | brain: | n/a | n/a |
| 22 | JUND | chr12:84579967-84580721 | SK-N-SH | brain: | n/a | n/a |
| 23 | JUND | chr12:84580040-84580748 | SK-N-SH | brain: | n/a | n/a |
| 24 | MAZ | chr12:84573352-84573400 | HepG2 | liver: | n/a | n/a |
| 25 | MYC | chr12:84571453-84571647 | MCF10A-Er-Src | breast: | n/a | n/a |
| 26 | MYC | chr12:84587913-84587921 | MCF10A-Er-Src | breast: | n/a | n/a |
| 27 | NFIC | chr12:84580107-84580598 | SK-N-SH | brain: | n/a | n/a |
| 28 | NFIC | chr12:84579908-84580870 | SK-N-SH | brain: | n/a | n/a |
| 29 | PBX3 | chr12:84579842-84580765 | SK-N-SH | brain: | n/a | n/a |
| 30 | PBX3 | chr12:84580025-84580695 | SK-N-SH | brain: | n/a | n/a |
| 31 | POLR2A | chr12:84580218-84580532 | SK-N-SH | brain: | n/a | n/a |
| 32 | POLR2A | chr12:84576298-84576549 | MCF10A-Er-Src | breast: | n/a | n/a |
| 33 | POLR2A | chr12:84581064-84581264 | MCF10A-Er-Src | breast: | n/a | n/a |
| 34 | POLR2A | chr12:84580087-84580551 | SK-N-SH | brain: | n/a | n/a |
| 35 | POLR2A | chr12:84577103-84577113 | A549 | lung: | n/a | n/a |
| 36 | POLR2A | chr12:84586439-84586444 | Gliobla | brain: | n/a | n/a |
| 37 | POLR2A | chr12:84588901-84589141 | MCF10A-Er-Src | breast: | n/a | n/a |
| 38 | POLR2A | chr12:84584778-84584877 | ProgFib | skin: | n/a | n/a |
| 39 | POLR2A | chr12:84577095-84577098 | A549 | lung: | n/a | n/a |
| 40 | RAD21 | chr12:84580096-84580515 | SK-N-SH_RA | brain: | n/a | chr12:84580451-84580470 |
| 41 | RAD21 | chr12:84580103-84580545 | SK-N-SH_RA | brain: | n/a | chr12:84580451-84580470 |
| 42 | RXRA | chr12:84580160-84580683 | SK-N-SH | brain: | n/a | n/a |
| 43 | STAT3 | chr12:84581712-84581799 | MCF10A-Er-Src | breast: | n/a | n/a |
| 44 | STAT3 | chr12:84579890-84580183 | MCF10A-Er-Src | breast: | n/a | n/a |
| 45 | STAT3 | chr12:84592508-84592682 | MCF10A-Er-Src | breast: | n/a | chr12:84592568-84592579 |
| 46 | TAF1 | chr12:84580329-84580485 | SK-N-SH | brain: | n/a | n/a |
| 47 | TCF12 | chr12:84579885-84580919 | SK-N-SH | brain: | n/a | n/a |
| 48 | TCF12 | chr12:84579974-84580792 | SK-N-SH | brain: | n/a | n/a |
| 49 | TEAD4 | chr12:84580068-84580778 | SK-N-SH | brain: | n/a | chr12:84580353-84580362 |
| 50 | TEAD4 | chr12:84580032-84580813 | SK-N-SH | brain: | n/a | chr12:84580353-84580362 |
| No data |
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:84592646..84594505-chr12:84594640..84596287,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000221148 | TF binding region |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs578158047 | chr12:84577011-84577012 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs545448983 | chr12:84577117-84577118 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs554107672 | chr12:84577151-84577152 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs35772242 | chr12:84577190-84577191 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs397792860 | chr12:84577191-84577192 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs543173141 | chr12:84577227-84577228 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs562032232 | chr12:84577230-84577231 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs78719506 | chr12:84577238-84577239 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs76797147 | chr12:84577239-84577240 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs542998380 | chr12:84577320-84577321 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs141549387 | chr12:84577358-84577359 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs531846964 | chr12:84577367-84577368 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs543019843 | chr12:84577433-84577434 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs564513580 | chr12:84577447-84577448 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs532125299 | chr12:84577450-84577451 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs190069027 | chr12:84577470-84577471 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs75887734 | chr12:84577479-84577480 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs138689230 | chr12:84577494-84577495 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs548035429 | chr12:84577496-84577497 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs569968504 | chr12:84577500-84577501 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs573826112 | chr12:84577511-84577512 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs537313300 | chr12:84577512-84577513 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs556611721 | chr12:84577529-84577530 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs571653762 | chr12:84577537-84577538 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs142694563 | chr12:84577565-84577566 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs554237612 | chr12:84577586-84577587 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs572592799 | chr12:84577598-84577599 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs536865772 | chr12:84577638-84577639 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs183041951 | chr12:84577679-84577680 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs576351884 | chr12:84577712-84577713 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs147386595 | chr12:84577713-84577714 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs187678361 | chr12:84577748-84577749 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs192395137 | chr12:84577791-84577792 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs561170139 | chr12:84577797-84577798 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs183909271 | chr12:84577817-84577818 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs1482439 | chr12:84577829-84577830 | Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 37 | rs529707901 | chr12:84577860-84577861 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs139545164 | chr12:84577874-84577875 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs372832099 | chr12:84577886-84577887 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs112478047 | chr12:84577894-84577895 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs34754631 | chr12:84577896-84577897 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs530859152 | chr12:84577908-84577909 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs552479881 | chr12:84577973-84577974 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs563723246 | chr12:84578009-84578010 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs571599415 | chr12:84578061-84578062 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs560651714 | chr12:84578062-84578063 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs549906042 | chr12:84578075-84578076 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs144011610 | chr12:84578088-84578089 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs1482438 | chr12:84578089-84578090 | Weak transcription Enhancers Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 50 | rs4441093 | chr12:84578130-84578131 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:67)
| 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 |
| 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 |
| Breast cancer | 21364760 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:84577000-84577200 | Enhancers | Fetal Heart | heart |
| 2 | chr12:84577000-84578000 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
| 3 | chr12:84577000-84578000 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 4 | chr12:84577000-84578000 | Enhancers | NHEK | skin |
| 5 | chr12:84577000-84578200 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 6 | chr12:84577200-84578000 | Flanking Active TSS | Fetal Heart | heart |
| 7 | chr12:84578000-84579000 | Active TSS | Fetal Heart | heart |
| 8 | chr12:84578000-84585800 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 9 | chr12:84585200-84586400 | Enhancers | HMEC | breast |
| 10 | chr12:84585600-84586400 | Enhancers | NHEK | skin |
| 11 | chr12:84585800-84586600 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
