Variant report
| Variant | esv3379203 |
|---|---|
| Chromosome Location | chr12:120317427-120345444 |
| allele | n/a |
| Outlinks | Ensembl   UCSC |
- TF binding region (count:335)
- CpG islands (count:61)
- Chromatin interactive region (count:13)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:120317798-120317848 | H1-hESC | embryonic stem cell: | embryo |
| 2 | chr12:120317798-120317848 | GM19239 | blood: | n/a |
| 3 | chr12:120317798-120317848 | GM12878 | blood: | n/a |
| 4 | chr12:120317798-120317848 | SK-N-SH | brain: | n/a |
| 5 | chr12:120317798-120317848 | HAEpiC | amniotic membrane: | n/a |
| 6 | chr12:120317798-120317848 | AG04449 | skin: | fetal |
| 7 | chr12:120317798-120317848 | AG04450 | lung: | fetal |
| 8 | chr12:120317798-120317848 | GM12892 | blood: | n/a |
| 9 | chr12:120317798-120317848 | SK-N-SH_RA | brain: | n/a |
| 10 | chr12:120317798-120317848 | NB4 | blood: | n/a |
| 11 | chr12:120317798-120317848 | A549 | lung: | n/a |
| 12 | chr12:120317798-120317848 | AG09319 | gingival: | n/a |
| 13 | chr12:120317798-120317848 | HRPEpiC | eye: | n/a |
| 14 | chr12:120317798-120317848 | T-47D | breast: | n/a |
| 15 | chr12:120317798-120317848 | BE2_C | brain: | n/a |
| 16 | chr12:120317798-120317848 | AG10803 | skin: | n/a |
| 17 | chr12:120317798-120317848 | AG09309 | skin: | n/a |
| 18 | chr12:120317798-120317848 | HMEC | breast: | n/a |
| 19 | chr12:120317798-120317848 | HepG2 | liver: | n/a |
| 20 | chr12:120317798-120317848 | RPTEC | kidney: | n/a |
| 21 | chr12:120317798-120317848 | PrEC | prostate: | n/a |
| 22 | chr12:120317798-120317848 | NHDF-neo | bronchial: | n/a |
| 23 | chr12:120317798-120317848 | CMK | blood: | n/a |
| 24 | chr12:120317798-120317848 | HUVEC | blood vessel: | n/a |
| 25 | chr12:120317798-120317848 | GM06990 | blood: | n/a |
| 26 | chr12:120317798-120317848 | HCT-116 | colon: | n/a |
| 27 | chr12:120317798-120317848 | ProgFib | skin: | n/a |
| 28 | chr12:120317798-120317848 | LNCaP | prostate: | n/a |
| 29 | chr12:120317798-120317848 | U87 | brain: | n/a |
| 30 | chr12:120317798-120317848 | Hela-S3 | cervix: | n/a |
| 31 | chr12:120317798-120317848 | HPAEpiC | pulmonary alveolar: | n/a |
| 32 | chr12:120317798-120317848 | SKMC | muscle: | n/a |
| 33 | chr12:120317798-120317848 | ovcar-3 | ovarian: | n/a |
| 34 | chr12:120317798-120317848 | NT2-D1 | testis: | n/a |
| 35 | chr12:120317798-120317848 | PFSK-1 | brain: | n/a |
| 36 | chr12:120317798-120317848 | GM12891 | blood: | n/a |
| 37 | chr12:120317798-120317848 | Hepatocyte | liver: | n/a |
| 38 | chr12:120317798-120317848 | HEK293 | kidney: | embryo |
| 39 | chr12:120317798-120317848 | HL-60 | blood: | n/a |
| 40 | chr12:120317798-120317848 | HCM | heart: | n/a |
| 41 | chr12:120317798-120317848 | HRCEpiC | kidney: | n/a |
| 42 | chr12:120317798-120317848 | MCF-7 | breast: | n/a |
| 43 | chr12:120317798-120317848 | IMR90 | lung: | fetal |
| 44 | chr12:120317798-120317848 | NH-A | brain: | n/a |
| 45 | chr12:120317798-120317848 | AoSMC | blood vessel: | n/a |
| 46 | chr12:120317798-120317848 | SK-N-MC | brain: | n/a |
| 47 | chr12:120317798-120317848 | NHBE | bronchial: | n/a |
| 48 | chr12:120317798-120317848 | MCF10A-Er-Src | breast: | n/a |
| 49 | chr12:120317798-120317848 | HNPCEpiC | eye: | n/a |
| 50 | chr12:120317798-120317848 | Caco-2 | colon: | n/a |
(count:13 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:120340057..120342640-chr12:120728214..120730004,2 | K562 | blood: | |
| 2 | chr12:120315180..120318058-chr12:120425281..120427733,2 | K562 | blood: | |
| 3 | chr12:120339915..120340470-chr20:52195293..52195889,2 | MCF-7 | breast: | |
| 4 | chr12:120207373..120209966-chr12:120331144..120333508,2 | MCF-7 | breast: | |
| 5 | chr12:120313729..120318058-chr12:120425281..120428238,3 | K562 | blood: | |
| 6 | chr12:120332998..120334916-chr12:120338712..120340934,2 | K562 | blood: | |
| 7 | chr12:120227935..120229478-chr12:120338440..120341071,2 | K562 | blood: | |
| 8 | chr12:120332998..120334916-chr12:120338712..120340934,2 | K562 | blood: | |
| 9 | chr12:120331860..120334916-chr12:120338712..120341359,3 | K562 | blood: | |
| 10 | chr12:120132592..120133485-chr12:120339505..120340183,2 | MCF-7 | breast: | |
| 11 | chr12:120311757..120313490-chr12:120315922..120318216,2 | K562 | blood: | |
| 12 | chr12:120331860..120334916-chr12:120338712..120341359,3 | K562 | blood: | |
| 13 | chr12:120218749..120219300-chr12:120339736..120340392,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| CIT | TF binding region |
| CIT | CpG island |
| ENSG00000135127 | chromatin interactions |
| ENSG00000202538 | chromatin interactions |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs558288602 | chr12:120317438-120317439 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs113345606 | chr12:120317450-120317451 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs540973667 | chr12:120317491-120317492 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs112334975 | chr12:120317519-120317520 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs529340264 | chr12:120317533-120317534 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs185423835 | chr12:120317566-120317567 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs59322858 | chr12:120317572-120317573 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs531791892 | chr12:120317629-120317630 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs551575649 | chr12:120317631-120317632 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs377206383 | chr12:120317633-120317634 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs527463882 | chr12:120317671-120317672 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs57908788 | chr12:120317674-120317675 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs567191697 | chr12:120317698-120317699 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 14 | rs115565494 | chr12:120317716-120317717 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 15 | rs545052984 | chr12:120317798-120317799 | Weak transcription | CpG islandChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 16 | rs7957543 | chr12:120317862-120317863 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs569658974 | chr12:120317864-120317865 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 18 | rs530784315 | chr12:120317923-120317924 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 19 | rs563319737 | chr12:120318020-120318021 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 20 | rs190582351 | chr12:120318092-120318093 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs80037671 | chr12:120318212-120318213 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs550078678 | chr12:120318239-120318240 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs569836038 | chr12:120318256-120318257 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs529129324 | chr12:120318287-120318288 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs549197397 | chr12:120318292-120318293 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs140542277 | chr12:120318312-120318313 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs554520358 | chr12:120318369-120318370 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs574337783 | chr12:120318405-120318406 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs150436418 | chr12:120318487-120318488 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs1185173 | chr12:120318504-120318505 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs145232373 | chr12:120318581-120318582 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs142350364 | chr12:120318584-120318585 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs545513984 | chr12:120318630-120318631 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs146288274 | chr12:120318640-120318641 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs527500809 | chr12:120318641-120318642 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs547163670 | chr12:120318659-120318660 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs565836325 | chr12:120318671-120318672 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs373249989 | chr12:120318690-120318691 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs139031624 | chr12:120318713-120318714 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs534719273 | chr12:120318714-120318715 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs142935711 | chr12:120318731-120318732 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs557976301 | chr12:120318784-120318785 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs549796946 | chr12:120318889-120318890 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs113817620 | chr12:120318900-120318901 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs111440567 | chr12:120318930-120318931 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs148041946 | chr12:120318973-120318974 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs113900025 | chr12:120319068-120319069 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs4084953 | chr12:120319072-120319073 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs34183131 | chr12:120319098-120319099 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs574276527 | chr12:120319121-120319122 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 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 |
| small cell lung cancer | 20016488 | CNVD |
| Glioblastoma multiforme | 21390271 | CNVD |
| Cancer | 20164919 | 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 |
| Breast cancer | 16397240 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Schizophrenia | 18923514 | CNVD |
| Schizophrenia | 22241247 | CNVD |
| Cryptorchidism | 21048976 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Breast cancer | 21806811 | CNVD |
| Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Beckwith-Wiedemann syndrome | 20648245 | CNVD |
| Developmental delay | 21457577 | CNVD |
| dysmorphic | 21457577 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:120315600-120318000 | Weak transcription | Right Atrium | heart |
| 2 | chr12:120315600-120320000 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 3 | chr12:120315600-120320000 | Weak transcription | NHDF-Ad | bronchial |
| 4 | chr12:120316000-120330200 | Weak transcription | A549 | lung |
| 5 | chr12:120317400-120317600 | Enhancers | Psoas Muscle | Psoas |
| 6 | chr12:120320000-120320400 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 7 | chr12:120320000-120320400 | Enhancers | NHDF-Ad | bronchial |
| 8 | chr12:120324000-120324600 | Enhancers | NHEK | skin |
| 9 | chr12:120324200-120324600 | Enhancers | HMEC | breast |
| 10 | chr12:120324200-120325400 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 11 | chr12:120329000-120329400 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
| 12 | chr12:120329400-120331000 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
| 13 | chr12:120330200-120330400 | Enhancers | A549 | lung |
| 14 | chr12:120331200-120331400 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
| 15 | chr12:120339800-120340000 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
| 16 | chr12:120339800-120340000 | Flanking Active TSS | K562 | blood |
| 17 | chr12:120339800-120340200 | Enhancers | Primary T helper memory cells from peripheral blood 1 | blood |
| 18 | chr12:120339800-120340200 | Enhancers | Primary T helper cells PMA-I stimulated | -- |
| 19 | chr12:120339800-120340200 | Enhancers | Primary T killer naive cells fromperipheralblood | blood |
| 20 | chr12:120339800-120340200 | Enhancers | Brain Anterior Caudate | brain |
| 21 | chr12:120339800-120340400 | Enhancers | Primary T helper 17 cells PMA-I stimulated | -- |
| 22 | chr12:120339800-120340400 | Enhancers | Dnd41 | blood |
| 23 | chr12:120340000-120340200 | Enhancers | K562 | blood |
| 24 | chr12:120340000-120340400 | Enhancers | A549 | lung |
| 25 | chr12:120340000-120340400 | Enhancers | HepG2 | liver |
| 26 | chr12:120341400-120343400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 27 | chr12:120343400-120343600 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
| 28 | chr12:120343400-120343800 | Enhancers | HepG2 | liver |






