Variant report
| Variant | esv3430951 |
|---|---|
| Chromosome Location | chr12:37947190-37974797 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:94)
- CpG islands (count:122)
- Chromatin interactive region (count:0)
- LncRNA region (count:4)
- 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 | chr12:37958942-37959282 | A549 | lung: | n/a | chr12:37959120-37959133 chr12:37959105-37959116 chr12:37959121-37959132 chr12:37959103-37959114 |
| 2 | CEBPB | chr12:37958940-37959279 | IMR90 | lung: | n/a | chr12:37959120-37959133 chr12:37959105-37959116 chr12:37959121-37959132 chr12:37959103-37959114 |
| 3 | CEBPB | chr12:37958940-37959289 | HepG2 | liver: | n/a | chr12:37959120-37959133 chr12:37959105-37959116 chr12:37959121-37959132 chr12:37959103-37959114 |
| 4 | CEBPB | chr12:37958976-37959270 | H1-hESC | embryonic stem cell: | n/a | chr12:37959120-37959133 chr12:37959105-37959116 chr12:37959121-37959132 chr12:37959103-37959114 |
| 5 | CEBPB | chr12:37958947-37959272 | Hela-S3 | cervix: | n/a | chr12:37959120-37959133 chr12:37959105-37959116 chr12:37959121-37959132 chr12:37959103-37959114 |
| 6 | CEBPB | chr12:37958944-37959289 | K562 | blood: | n/a | chr12:37959120-37959133 chr12:37959105-37959116 chr12:37959121-37959132 chr12:37959103-37959114 |
| 7 | CEBPB | chr12:37958937-37959283 | K562 | blood: | n/a | chr12:37959120-37959133 chr12:37959105-37959116 chr12:37959121-37959132 chr12:37959103-37959114 |
| 8 | CTCF | chr12:37947918-37948034 | GM13976 | blood: | n/a | n/a |
| 9 | CTCF | chr12:37963606-37963736 | Kidney_OC | kidney: | n/a | n/a |
| 10 | CTCF | chr12:37962938-37962963 | Kidney_OC | kidney: | n/a | n/a |
| 11 | CTCF | chr12:37963737-37963739 | Kidney_OC | kidney: | n/a | n/a |
| 12 | CTCF | chr12:37951745-37951838 | LNCaP | prostate: | n/a | n/a |
| 13 | CTCF | chr12:37959558-37959611 | GM19240 | blood: | n/a | n/a |
| 14 | EP300 | chr12:37955237-37955506 | GM12878 | blood: | n/a | n/a |
| 15 | FOS | chr12:37958662-37958753 | MCF10A-Er-Src | breast: | n/a | n/a |
| 16 | FOS | chr12:37958675-37958711 | MCF10A-Er-Src | breast: | n/a | n/a |
| 17 | FOS | chr12:37959008-37959202 | MCF10A-Er-Src | breast: | n/a | n/a |
| 18 | FOS | chr12:37959043-37959235 | MCF10A-Er-Src | breast: | n/a | n/a |
| 19 | FOSL2 | chr12:37959918-37960557 | HepG2 | liver: | n/a | n/a |
| 20 | FOSL2 | chr12:37960913-37961411 | HepG2 | liver: | n/a | n/a |
| 21 | FOSL2 | chr12:37960709-37961501 | HepG2 | liver: | n/a | n/a |
| 22 | FOXA1 | chr12:37954119-37954472 | HepG2 | liver: | n/a | n/a |
| 23 | GATA2 | chr12:37960690-37961257 | K562 | blood: | n/a | n/a |
| 24 | HEY1 | chr12:37960660-37961391 | HepG2 | liver: | n/a | n/a |
| 25 | HEY1 | chr12:37960673-37961548 | HepG2 | liver: | n/a | n/a |
| 26 | HEY1 | chr12:37960129-37960298 | K562 | blood: | n/a | n/a |
| 27 | HEY1 | chr12:37960708-37961419 | K562 | blood: | n/a | n/a |
| 28 | HEY1 | chr12:37959778-37960328 | HepG2 | liver: | n/a | n/a |
| 29 | HEY1 | chr12:37959931-37960109 | HepG2 | liver: | n/a | n/a |
| 30 | HEY1 | chr12:37960150-37960306 | HepG2 | liver: | n/a | n/a |
| 31 | HEY1 | chr12:37960810-37961315 | K562 | blood: | n/a | n/a |
| 32 | JUND | chr12:37960701-37961039 | HepG2 | liver: | n/a | n/a |
| 33 | JUND | chr12:37959937-37960070 | HepG2 | liver: | n/a | n/a |
| 34 | JUND | chr12:37961100-37961412 | HepG2 | liver: | n/a | n/a |
| 35 | JUND | chr12:37961160-37961393 | HepG2 | liver: | n/a | n/a |
| 36 | MAFK | chr12:37973824-37973892 | HepG2 | liver: | n/a | n/a |
| 37 | PAX5 | chr12:37960147-37960323 | GM12878 | blood: | n/a | n/a |
| 38 | PAX5 | chr12:37954134-37954513 | GM12878 | blood: | n/a | n/a |
| 39 | PAX5 | chr12:37954192-37954523 | GM12878 | blood: | n/a | n/a |
| 40 | PAX5 | chr12:37954184-37954494 | GM12878 | blood: | n/a | n/a |
| 41 | PBX3 | chr12:37956190-37956324 | GM12878 | blood: | n/a | n/a |
| 42 | PBX3 | chr12:37960203-37960305 | GM12878 | blood: | n/a | n/a |
| 43 | PBX3 | chr12:37960180-37960324 | GM12878 | blood: | n/a | n/a |
| 44 | POLR2A | chr12:37960792-37960993 | GM12878 | blood: | n/a | n/a |
| 45 | POLR2A | chr12:37960787-37961020 | Hela-S3 | cervix: | n/a | n/a |
| 46 | POLR2A | chr12:37960159-37960556 | GM12878 | blood: | n/a | n/a |
| 47 | POLR2A | chr12:37960018-37960348 | GM12878 | blood: | n/a | n/a |
| 48 | POLR2A | chr12:37961159-37961389 | GM12878 | blood: | n/a | n/a |
| 49 | POLR2A | chr12:37959967-37960354 | GM12892 | blood: | n/a | n/a |
| 50 | POLR2A | chr12:37960349-37960530 | GM12878 | blood: | n/a | n/a |
| No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:37960372-37960422 | HPAEpiC | pulmonary alveolar: | n/a |
| 2 | chr12:37960372-37960422 | HRPEpiC | eye: | n/a |
| 3 | chr12:37960160-37960210 | HMEC | breast: | n/a |
| 4 | chr12:37960372-37960422 | HepG2 | liver: | n/a |
| 5 | chr12:37960160-37960210 | HL-60 | blood: | n/a |
| 6 | chr12:37960160-37960210 | Hela-S3 | cervix: | n/a |
| 7 | chr12:37960160-37960210 | GM12878 | blood: | n/a |
| 8 | chr12:37960160-37960210 | NB4 | blood: | n/a |
| 9 | chr12:37960160-37960210 | HCPEpiC | choroid plexus: | n/a |
| 10 | chr12:37960160-37960210 | GM12891 | blood: | n/a |
| 11 | chr12:37960372-37960422 | Hela-S3 | cervix: | n/a |
| 12 | chr12:37960160-37960210 | BJ | skin: | n/a |
| 13 | chr12:37960372-37960422 | HMEC | breast: | n/a |
| 14 | chr12:37960372-37960422 | SK-N-SH_RA | brain: | n/a |
| 15 | chr12:37960372-37960422 | HUVEC | blood vessel: | n/a |
| 16 | chr12:37960372-37960422 | Jurkat | blood: | n/a |
| 17 | chr12:37960160-37960210 | Caco-2 | colon: | n/a |
| 18 | chr12:37960160-37960210 | AG10803 | skin: | n/a |
| 19 | chr12:37960160-37960210 | Hepatocyte | liver: | n/a |
| 20 | chr12:37960372-37960422 | Hepatocyte | liver: | n/a |
| 21 | chr12:37960372-37960422 | HL-60 | blood: | n/a |
| 22 | chr12:37960160-37960210 | NHBE | bronchial: | n/a |
| 23 | chr12:37960372-37960422 | AG10803 | skin: | n/a |
| 24 | chr12:37960160-37960210 | U87 | brain: | n/a |
| 25 | chr12:37960160-37960210 | HUVEC | blood vessel: | n/a |
| 26 | chr12:37960372-37960422 | GM19239 | blood: | n/a |
| 27 | chr12:37960160-37960210 | SK-N-MC | brain: | n/a |
| 28 | chr12:37960160-37960210 | CMK | blood: | n/a |
| 29 | chr12:37960160-37960210 | IMR90 | lung: | fetal |
| 30 | chr12:37960372-37960422 | AG04449 | skin: | fetal |
| 31 | chr12:37960160-37960210 | NHDF-neo | bronchial: | n/a |
| 32 | chr12:37960160-37960210 | LNCaP | prostate: | n/a |
| 33 | chr12:37960372-37960422 | GM06990 | blood: | n/a |
| 34 | chr12:37960372-37960422 | LNCaP | prostate: | n/a |
| 35 | chr12:37960160-37960210 | AG04449 | skin: | fetal |
| 36 | chr12:37960372-37960422 | GM12891 | blood: | n/a |
| 37 | chr12:37960372-37960422 | K562 | blood: | n/a |
| 38 | chr12:37960372-37960422 | NB4 | blood: | n/a |
| 39 | chr12:37960372-37960422 | HCF | heart: | n/a |
| 40 | chr12:37960160-37960210 | RPTEC | kidney: | n/a |
| 41 | chr12:37960160-37960210 | HNPCEpiC | eye: | n/a |
| 42 | chr12:37960160-37960210 | ProgFib | skin: | n/a |
| 43 | chr12:37960160-37960210 | HCF | heart: | n/a |
| 44 | chr12:37960372-37960422 | Caco-2 | colon: | n/a |
| 45 | chr12:37960372-37960422 | NH-A | brain: | n/a |
| 46 | chr12:37960372-37960422 | AG04450 | lung: | fetal |
| 47 | chr12:37960160-37960210 | SAEC | small airway: | n/a |
| 48 | chr12:37960160-37960210 | SK-N-SH | brain: | n/a |
| 49 | chr12:37960372-37960422 | A549 | lung: | n/a |
| 50 | chr12:37960372-37960422 | IMR90 | lung: | fetal |
| No data |
(count:4 , 50 per page) page:
1
| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-ALG10B-10 | chr12:37969251-37969555 | NONHSAT027668 |
| 2 | lnc-ALG10B-10 | chr12:37970091-37970186 | NONHSAT027668 |
| 3 | lnc-ALG10B-10 | chr12:37969385-37969515 | NONHSAT027669 |
| 4 | lnc-ALG10B-10 | chr12:37970091-37970259 | NONHSAT027669 |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000258368 | TF binding region |
| ENSG00000258368 | CpG island |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs117689188 | chr12:37960202-37960203 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs528871288 | chr12:37960235-37960236 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs185811109 | chr12:37960240-37960241 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs562724562 | chr12:37960255-37960256 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs531646135 | chr12:37960289-37960290 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs12317934 | chr12:37960291-37960292 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs571485716 | chr12:37960319-37960320 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs149617467 | chr12:37960323-37960324 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs546761237 | chr12:37960328-37960329 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs567003109 | chr12:37960338-37960339 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs191999686 | chr12:37960339-37960340 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs555354063 | chr12:37960344-37960345 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs575501617 | chr12:37960345-37960346 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs538169263 | chr12:37960367-37960368 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs548690264 | chr12:37960369-37960370 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs558058449 | chr12:37960375-37960376 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs144269518 | chr12:37960376-37960377 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs540863804 | chr12:37960379-37960380 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs370728774 | chr12:37960386-37960387 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs148750262 | chr12:37960410-37960411 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs376162248 | chr12:37960416-37960417 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs112757624 | chr12:37960417-37960418 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs182103791 | chr12:37960442-37960443 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs570135088 | chr12:37960448-37960449 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs531605535 | chr12:37960452-37960453 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs142367564 | chr12:37960467-37960468 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs538053460 | chr12:37960469-37960470 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs565216618 | chr12:37960486-37960487 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs371233520 | chr12:37960498-37960499 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs187651313 | chr12:37960499-37960500 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs377326045 | chr12:37960500-37960501 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs71447695 | chr12:37960502-37960503 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs566814718 | chr12:37960521-37960522 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs71065466 | chr12:37960522-37960523 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs549961488 | chr12:37960541-37960542 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs192004763 | chr12:37960544-37960545 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs548940374 | chr12:37960575-37960576 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs568890499 | chr12:37960623-37960624 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs182110302 | chr12:37960626-37960627 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs558021619 | chr12:37960634-37960635 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs578228088 | chr12:37960671-37960672 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs534084569 | chr12:37960677-37960678 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs554353963 | chr12:37960687-37960688 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs538967220 | chr12:37960709-37960710 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs542763564 | chr12:37960808-37960809 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs562596320 | chr12:37960821-37960822 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs576089250 | chr12:37960860-37960861 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs545060389 | chr12:37960861-37960862 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs186839976 | chr12:37960900-37960901 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs553771162 | chr12:37960946-37960947 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:55)
| 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:37960200-37960600 | Enhancers | Spleen | Spleen |
| 2 | chr12:37960600-37961200 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
