Variant report
| Variant | nsv975528 |
|---|---|
| Chromosome Location | chr12:106409326-106413324 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:28)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:28 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | CEBPB | chr12:106412976-106413220 | Hela-S3 | cervix: | n/a | n/a |
| 2 | CEBPB | chr12:106410687-106411017 | IMR90 | lung: | n/a | chr12:106410842-106410853 |
| 3 | CEBPB | chr12:106412941-106413129 | HepG2 | liver: | n/a | n/a |
| 4 | CEBPB | chr12:106410689-106410980 | Hela-S3 | cervix: | n/a | chr12:106410842-106410853 |
| 5 | CEBPB | chr12:106410677-106410958 | HepG2 | liver: | n/a | chr12:106410842-106410853 |
| 6 | CEBPB | chr12:106410757-106410993 | H1-hESC | embryonic stem cell: | n/a | chr12:106410842-106410853 |
| 7 | CEBPB | chr12:106410679-106411010 | A549 | lung: | n/a | chr12:106410842-106410853 |
| 8 | CEBPB | chr12:106410748-106410890 | K562 | blood: | n/a | chr12:106410842-106410853 |
| 9 | FOS | chr12:106412955-106413119 | MCF10A-Er-Src | breast: | n/a | chr12:106413106-106413115 |
| 10 | FOS | chr12:106412958-106413233 | MCF10A-Er-Src | breast: | n/a | chr12:106413106-106413115 |
| 11 | FOSL2 | chr12:106410491-106410831 | HepG2 | liver: | n/a | n/a |
| 12 | JUND | chr12:106410453-106410732 | HepG2 | liver: | n/a | n/a |
| 13 | KAP1 | chr12:106412358-106412636 | HEK293 | kidney: | n/a | n/a |
| 14 | POLR2A | chr12:106410096-106410854 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 15 | REST | chr12:106410388-106410702 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 16 | REST | chr12:106410377-106410742 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 17 | RXRA | chr12:106410466-106410917 | HepG2 | liver: | n/a | n/a |
| 18 | RXRA | chr12:106410594-106410888 | HepG2 | liver: | n/a | n/a |
| 19 | SETDB1 | chr12:106412247-106413075 | U2OS | brain: | n/a | n/a |
| 20 | SP1 | chr12:106410111-106410369 | GM12878 | blood: | n/a | n/a |
| 21 | SP1 | chr12:106410453-106410920 | HepG2 | liver: | n/a | n/a |
| 22 | TEAD4 | chr12:106410462-106410807 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 23 | TEAD4 | chr12:106410328-106410774 | HepG2 | liver: | n/a | n/a |
| 24 | TEAD4 | chr12:106410311-106410810 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 25 | USF1 | chr12:106412105-106412502 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 26 | ZBTB33 | chr12:106410687-106410917 | K562 | blood: | n/a | n/a |
| 27 | ZBTB33 | chr12:106410086-106410376 | K562 | blood: | n/a | n/a |
| 28 | ZNF143 | chr12:106412277-106412648 | H1-hESC | embryonic stem cell: | n/a | n/a |
| No data |
(count:5 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:106410464..106412733-chr12:106425664..106427540,2 | MCF-7 | breast: | |
| 2 | chr12:106413166..106414839-chr12:106421103..106423902,2 | MCF-7 | breast: | |
| 3 | chr12:106406591..106409447-chr12:106413287..106415312,2 | MCF-7 | breast: | |
| 4 | chr12:106406591..106409447-chr12:106413287..106415312,2 | MCF-7 | breast: | |
| 5 | chr12:106413259..106415933-chr12:106427612..106429881,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ST13P3 | TF binding region |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs375724222 | chr12:106409369-106409370 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs188433294 | chr12:106409389-106409390 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs543358057 | chr12:106409435-106409436 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs959722 | chr12:106409441-106409442 | Weak transcription Genic enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs11112835 | chr12:106409449-106409450 | Weak transcription Genic enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs542287399 | chr12:106409492-106409493 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs559004094 | chr12:106409514-106409515 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs545385776 | chr12:106409602-106409603 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs528207402 | chr12:106409603-106409604 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs547966555 | chr12:106409610-106409611 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs373107041 | chr12:106409611-106409612 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs564525775 | chr12:106409639-106409640 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs192507501 | chr12:106409640-106409641 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs113076049 | chr12:106409690-106409691 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs2468218 | chr12:106409695-106409696 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs113929764 | chr12:106409733-106409734 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs138032083 | chr12:106409736-106409737 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs112113336 | chr12:106409738-106409739 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs111834726 | chr12:106409750-106409751 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs112028315 | chr12:106409761-106409762 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs185562556 | chr12:106409804-106409805 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs566167055 | chr12:106409854-106409855 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs535174691 | chr12:106409890-106409891 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs142509764 | chr12:106409905-106409906 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs115321981 | chr12:106409922-106409923 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs575772325 | chr12:106409953-106409954 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs537320540 | chr12:106409966-106409967 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs34545636 | chr12:106409967-106409968 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs190079789 | chr12:106409977-106409978 | Weak transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs573626258 | chr12:106410006-106410007 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs376042626 | chr12:106410021-106410022 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs146043759 | chr12:106410022-106410023 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs35757955 | chr12:106410049-106410050 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs552591381 | chr12:106410110-106410111 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs181786625 | chr12:106410111-106410112 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs544785999 | chr12:106410117-106410118 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs564667366 | chr12:106410130-106410131 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs199976906 | chr12:106410178-106410179 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs145246376 | chr12:106410197-106410198 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs142828233 | chr12:106410236-106410237 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs76530935 | chr12:106410241-106410242 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs199512647 | chr12:106410276-106410277 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs544019785 | chr12:106410300-106410301 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs563953969 | chr12:106410327-106410328 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs529653817 | chr12:106410337-106410338 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs565725654 | chr12:106410377-106410378 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs150609238 | chr12:106410392-106410393 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs187088591 | chr12:106410408-106410409 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs561309717 | chr12:106410421-106410422 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs551602212 | chr12:106410425-106410426 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:66)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Melanoma | 18172304 | CNVD |
| Glioblastoma multiforme | 21390271 | CNVD |
| Cancer | 20164919 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Cancer | 16751803 | 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 |
| Wilms tumour | 21544195 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Chronic lymphocytic leukemia | 21049055 | CNVD |
| Neurocytoma | 17123091 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:106402600-106410000 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 2 | chr12:106408400-106410000 | Genic enhancers | HSMMtube | muscle |
| 3 | chr12:106410000-106410400 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 4 | chr12:106410000-106410400 | Enhancers | HSMMtube | muscle |
| 5 | chr12:106410400-106412200 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 6 | chr12:106410400-106412400 | Weak transcription | HSMMtube | muscle |
| 7 | chr12:106411400-106412800 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 8 | chr12:106411600-106415000 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 9 | chr12:106412200-106412800 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 10 | chr12:106412200-106413200 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
| 11 | chr12:106412200-106413600 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell |
| 12 | chr12:106412400-106412800 | ZNF genes & repeats | HSMMtube | muscle |
| 13 | chr12:106412800-106415600 | Enhancers | HSMMtube | muscle |
| 14 | chr12:106413000-106413200 | Enhancers | Adipose Nuclei | Adipose |
| 15 | chr12:106413200-106413800 | Weak transcription | Adipose Nuclei | Adipose |
