Variant report
| Variant | nsv1044642 |
|---|---|
| Chromosome Location | chr12:10910774-10954384 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:235)
- CpG islands (count:0)
- Chromatin interactive region (count:8)
- LncRNA region (count:14)
- 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 | ARID3A | chr12:10923738-10924091 | HepG2 | liver: | n/a | n/a |
| 2 | ARID3A | chr12:10923755-10924078 | K562 | blood: | n/a | n/a |
| 3 | ATF1 | chr12:10931742-10932079 | K562 | blood: | n/a | n/a |
| 4 | CEBPB | chr12:10927016-10927332 | IMR90 | lung: | n/a | chr12:10927157-10927166 chr12:10927157-10927166 chr12:10927157-10927166 chr12:10927155-10927168 chr12:10927155-10927166 chr12:10927157-10927166 chr12:10927156-10927167 chr12:10927155-10927168 |
| 5 | CEBPB | chr12:10923824-10924022 | K562 | blood: | n/a | n/a |
| 6 | CEBPB | chr12:10941889-10941983 | K562 | blood: | n/a | chr12:10941940-10941951 |
| 7 | CEBPB | chr12:10935885-10936233 | K562 | blood: | n/a | chr12:10936059-10936070 |
| 8 | CEBPB | chr12:10941841-10942046 | A549 | lung: | n/a | chr12:10941940-10941951 |
| 9 | CEBPB | chr12:10935886-10936197 | ECC-1 | luminal epithelium: | n/a | chr12:10936059-10936070 |
| 10 | CEBPB | chr12:10927020-10927303 | A549 | lung: | n/a | chr12:10927157-10927166 chr12:10927157-10927166 chr12:10927157-10927166 chr12:10927155-10927168 chr12:10927155-10927166 chr12:10927157-10927166 chr12:10927156-10927167 chr12:10927155-10927168 |
| 11 | CEBPB | chr12:10935876-10936247 | HepG2 | liver: | n/a | chr12:10936059-10936070 |
| 12 | CEBPB | chr12:10935865-10936264 | MCF-7 | breast: | n/a | chr12:10936059-10936070 |
| 13 | CEBPB | chr12:10926986-10927335 | HepG2 | liver: | n/a | chr12:10927157-10927166 chr12:10927157-10927166 chr12:10927157-10927166 chr12:10927155-10927168 chr12:10927155-10927166 chr12:10927157-10927166 chr12:10927156-10927167 chr12:10927155-10927168 |
| 14 | CEBPB | chr12:10935891-10936243 | IMR90 | lung: | n/a | chr12:10936059-10936070 |
| 15 | CEBPB | chr12:10941807-10942067 | HepG2 | liver: | n/a | chr12:10941940-10941951 |
| 16 | CEBPB | chr12:10923790-10924074 | Hela-S3 | cervix: | n/a | n/a |
| 17 | CEBPB | chr12:10923782-10924041 | IMR90 | lung: | n/a | n/a |
| 18 | CEBPB | chr12:10923810-10924073 | A549 | lung: | n/a | n/a |
| 19 | CEBPB | chr12:10927048-10927261 | Hela-S3 | cervix: | n/a | chr12:10927157-10927166 chr12:10927157-10927166 chr12:10927157-10927166 chr12:10927155-10927168 chr12:10927155-10927166 chr12:10927157-10927166 chr12:10927156-10927167 chr12:10927155-10927168 |
| 20 | CEBPB | chr12:10935833-10936278 | MCF-7 | breast: | n/a | chr12:10936059-10936070 |
| 21 | CEBPB | chr12:10941830-10942089 | IMR90 | lung: | n/a | chr12:10941940-10941951 |
| 22 | CEBPB | chr12:10935986-10936115 | K562 | blood: | n/a | chr12:10936059-10936070 |
| 23 | CEBPB | chr12:10935894-10936247 | A549 | lung: | n/a | chr12:10936059-10936070 |
| 24 | CEBPB | chr12:10935891-10936185 | H1-hESC | embryonic stem cell: | n/a | chr12:10936059-10936070 |
| 25 | CEBPB | chr12:10935876-10936255 | Hela-S3 | cervix: | n/a | chr12:10936059-10936070 |
| 26 | CTCF | chr12:10923820-10923970 | Caco-2 | colon: | n/a | chr12:10923918-10923939 |
| 27 | CTCF | chr12:10923840-10923990 | AG09309 | skin: | n/a | chr12:10923918-10923939 |
| 28 | CTCF | chr12:10923735-10924097 | K562 | blood: | n/a | chr12:10923918-10923939 |
| 29 | CTCF | chr12:10923800-10923950 | HL-60 | blood: | n/a | chr12:10923918-10923939 |
| 30 | CTCF | chr12:10923827-10924017 | GM10248 | blood: | n/a | chr12:10923918-10923939 |
| 31 | CTCF | chr12:10923739-10924032 | ECC-1 | luminal epithelium: | n/a | chr12:10923918-10923939 |
| 32 | CTCF | chr12:10923860-10924010 | HMEC | breast: | n/a | chr12:10923918-10923939 |
| 33 | CTCF | chr12:10931920-10932070 | HCT-116 | colon: | n/a | n/a |
| 34 | CTCF | chr12:10923700-10923850 | NHLF | lung: | n/a | n/a |
| 35 | CTCF | chr12:10923840-10923990 | HMF | breast: | n/a | chr12:10923918-10923939 |
| 36 | CTCF | chr12:10923800-10924047 | A549 | lung: | n/a | chr12:10923918-10923939 |
| 37 | CTCF | chr12:10923761-10924023 | SK-N-SH_RA | brain: | n/a | chr12:10923918-10923939 |
| 38 | CTCF | chr12:10923900-10924050 | WI-38 | lung: | n/a | chr12:10923918-10923939 |
| 39 | CTCF | chr12:10923823-10924012 | GM13977 | blood: | n/a | chr12:10923918-10923939 |
| 40 | CTCF | chr12:10923800-10923950 | GM12878 | blood: | n/a | chr12:10923918-10923939 |
| 41 | CTCF | chr12:10923740-10923890 | RPTEC | kidney: | n/a | n/a |
| 42 | CTCF | chr12:10923807-10924036 | Pancreas_OC | pancreas: | n/a | chr12:10923918-10923939 |
| 43 | CTCF | chr12:10923760-10923910 | HCT-116 | colon: | n/a | n/a |
| 44 | CTCF | chr12:10923820-10923970 | HEEpiC | esophagus: | n/a | chr12:10923918-10923939 |
| 45 | CTCF | chr12:10923840-10923990 | HMEC | breast: | n/a | chr12:10923918-10923939 |
| 46 | CTCF | chr12:10923860-10924010 | BE2_C | brain: | n/a | chr12:10923918-10923939 |
| 47 | CTCF | chr12:10923820-10923970 | MCF-7 | breast: | n/a | chr12:10923918-10923939 |
| 48 | CTCF | chr12:10923882-10923954 | A549 | lung: | n/a | chr12:10923918-10923939 |
| 49 | CTCF | chr12:10923840-10923990 | HA-sp | spinal cord: | n/a | chr12:10923918-10923939 |
| 50 | CTCF | chr12:10935406-10935525 | LNCaP | prostate: | n/a | n/a |
| No data |
(count:8 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:10923706..10924220-chr12:11352723..11353239,2 | K562 | blood: | |
| 2 | chr12:10923421..10924942-chr12:11638999..11640209,11 | K562 | blood: | |
| 3 | chr10:44305858..44306365-chr12:10923506..10924325,2 | MCF-7 | breast: | |
| 4 | chr12:10923458..10924277-chr12:11707052..11707592,2 | K562 | blood: | |
| 5 | chr12:10923542..10924154-chr12:11639667..11640247,2 | MCF-7 | breast: | |
| 6 | chr12:10923485..10924800-chr12:11352236..11353220,4 | MCF-7 | breast: | |
| 7 | chr12:10951582..10953191-chr12:10954611..10956191,2 | K562 | blood: | |
| 8 | chr12:10923804..10924411-chr12:11352563..11353080,2 | MCF-7 | breast: |
(count:14 , 50 per page) page:
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| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-PRH2-1 | chr12:10922020-10922045 | ENSG00000256888 |
| 2 | lnc-PRH2-1 | chr12:10921992-10922045 | ENSG00000256888 |
| 3 | lnc-PRH2-1 | chr12:10926551-10926583 | ENSG00000256888 |
| 4 | lnc-PRH2-1 | chr12:10929111-10929400 | ENSG00000256888 |
| 5 | lnc-PRH2-1 | chr12:10926551-10926583 | ENSG00000256888 |
| 6 | lnc-PRH2-1 | chr12:10921992-10922045 | ENSG00000256888 |
| 7 | lnc-PRH2-1 | chr12:10929111-10929400 | ENSG00000256888 |
| 8 | lnc-PRH2-1 | chr12:10927405-10927465 | ENSG00000256888 |
| 9 | lnc-PRH2-3 | chr12:10922904-10923204 | NONHSAT026901 |
| 10 | lnc-PRH2-1 | chr12:10926551-10926583 | ENSG00000256888 |
| 11 | lnc-PRH2-1 | chr12:10928464-10928583 | ENSG00000256888 |
| 12 | lnc-PRH2-1 | chr12:10929917-10930038 | ENSG00000256888 |
| 13 | lnc-PRH2-1 | chr12:10929917-10929987 | ENSG00000256888 |
| 14 | lnc-PRH2-1 | chr12:10929917-10930043 | ENSG00000256888 |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| HSPE1P12 | TF binding region |
| ENSG00000256888 | TF binding region |
| ENSG00000255790 | chromatin interactions |
| ENSG00000121377 | chromatin interactions |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs533965050 | chr12:10911856-10911857 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs541805686 | chr12:10911879-10911880 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs149864948 | chr12:10911881-10911882 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs530631700 | chr12:10911928-10911929 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs190308648 | chr12:10911958-10911959 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs372960564 | chr12:10912038-10912039 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs181621226 | chr12:10912146-10912147 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs546176554 | chr12:10912165-10912166 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs184273261 | chr12:10912177-10912178 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs111781489 | chr12:10912187-10912188 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs528711242 | chr12:10912208-10912209 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs145560977 | chr12:10912282-10912283 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs374374561 | chr12:10912283-10912284 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs188693952 | chr12:10912298-10912299 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs60497781 | chr12:10912299-10912300 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs370645527 | chr12:10912313-10912314 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs557562392 | chr12:10912337-10912338 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs570942751 | chr12:10912390-10912391 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs539979455 | chr12:10912396-10912397 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs534604391 | chr12:10912417-10912418 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs548682952 | chr12:10912463-10912464 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs553401577 | chr12:10912472-10912473 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs144675133 | chr12:10912618-10912619 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs59174975 | chr12:10912680-10912681 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 25 | rs114896212 | chr12:10912708-10912709 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs575522042 | chr12:10912709-10912710 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs544061082 | chr12:10912711-10912712 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs558906494 | chr12:10912712-10912713 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs181182701 | chr12:10912747-10912748 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs7135949 | chr12:10912749-10912750 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 31 | rs539940534 | chr12:10912783-10912784 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs577454311 | chr12:10912967-10912968 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs185082354 | chr12:10913001-10913002 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs74349053 | chr12:10913006-10913007 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs548838336 | chr12:10913012-10913013 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs190617483 | chr12:10913026-10913027 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs4763215 | chr12:10913034-10913035 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 38 | rs78318652 | chr12:10913054-10913055 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs544726399 | chr12:10913109-10913110 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs6488325 | chr12:10913111-10913112 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 41 | rs539895636 | chr12:10913119-10913120 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs77267449 | chr12:10913130-10913131 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs76918385 | chr12:10913141-10913142 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs145416693 | chr12:10913234-10913235 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs555765606 | chr12:10913276-10913277 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs111275535 | chr12:10913327-10913328 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs117496883 | chr12:10913338-10913339 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs116808616 | chr12:10913354-10913355 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs113685880 | chr12:10913396-10913397 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs574706361 | chr12:10917018-10917019 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:94)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Breast cancer | 21611746 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Cutaneous T-cell lymphoma | 21881587 | CNVD |
| Squamous cell cancer | 19607727 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| T-cell acute lymphoblastic leukemia | 19406988 | CNVD |
| Acute lymphoblastic leukemia | 17443227 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Acute lymphoblastic leukemia | 19100363 | CNVD |
| Acute myeloid leukemia | 17268525 | CNVD |
| Acute monocytic leukemia | 16498392 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Breast cancer | 17133270 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Ependymoma | 18628472 | CNVD |
| Leukemia | 18628472 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Melanoma | 20877625 | CNVD |
| Ovarian cancer | 21781307 | CNVD |
| Acute myeloid leukemia | 17237825 | CNVD |
| Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:10911800-10912400 | Enhancers | Fetal Intestine Small | intestine |
| 2 | chr12:10912400-10912800 | Weak transcription | Fetal Intestine Small | intestine |
| 3 | chr12:10912800-10913400 | Enhancers | Fetal Intestine Small | intestine |
| 4 | chr12:10917000-10917200 | ZNF genes & repeats | Aorta | Aorta |
| 5 | chr12:10922800-10923200 | Bivalent Enhancer | Stomach Mucosa | stomach |
| 6 | chr12:10924800-10925400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 7 | chr12:10929200-10929400 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 8 | chr12:10953800-10955200 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 9 | chr12:10953800-10955200 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 10 | chr12:10954000-10954200 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 11 | chr12:10954200-10954400 | Flanking Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 12 | chr12:10954200-10954600 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 13 | chr12:10954200-10955800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 14 | chr12:10954200-10955800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
