Variant report
| Variant | nsv520713 |
|---|---|
| Chromosome Location | chr12:10362224-10364362 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:26)
- CpG islands (count:61)
- Chromatin interactive region (count:6)
- LncRNA region (count:2)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:26 , 50 per page) page:
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| No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:10362670-10362720 | Hepatocyte | liver: | n/a |
| 2 | chr12:10362670-10362720 | HEK293 | kidney: | embryo |
| 3 | chr12:10362670-10362720 | LNCaP | prostate: | n/a |
| 4 | chr12:10362670-10362720 | NT2-D1 | testis: | n/a |
| 5 | chr12:10362670-10362720 | HRE | kidney: | n/a |
| 6 | chr12:10362670-10362720 | NB4 | blood: | n/a |
| 7 | chr12:10362670-10362720 | ECC-1 | luminal epithelium: | n/a |
| 8 | chr12:10362670-10362720 | Hela-S3 | cervix: | n/a |
| 9 | chr12:10362670-10362720 | MCF-7 | breast: | n/a |
| 10 | chr12:10362670-10362720 | AG09319 | gingival: | n/a |
| 11 | chr12:10362670-10362720 | K562 | blood: | n/a |
| 12 | chr12:10362670-10362720 | T-47D | breast: | n/a |
| 13 | chr12:10362670-10362720 | GM12892 | blood: | n/a |
| 14 | chr12:10362670-10362720 | RPTEC | kidney: | n/a |
| 15 | chr12:10362670-10362720 | HMEC | breast: | n/a |
| 16 | chr12:10362670-10362720 | HNPCEpiC | eye: | n/a |
| 17 | chr12:10362670-10362720 | HRCEpiC | kidney: | n/a |
| 18 | chr12:10362670-10362720 | NHBE | bronchial: | n/a |
| 19 | chr12:10362670-10362720 | Caco-2 | colon: | n/a |
| 20 | chr12:10362670-10362720 | GM06990 | blood: | n/a |
| 21 | chr12:10362670-10362720 | CMK | blood: | n/a |
| 22 | chr12:10362670-10362720 | HEEpiC | esophagus: | n/a |
| 23 | chr12:10362670-10362720 | PANC-1 | pancreas: | n/a |
| 24 | chr12:10362670-10362720 | PFSK-1 | brain: | n/a |
| 25 | chr12:10362670-10362720 | BJ | skin: | n/a |
| 26 | chr12:10362670-10362720 | U87 | brain: | n/a |
| 27 | chr12:10362670-10362720 | SK-N-MC | brain: | n/a |
| 28 | chr12:10362670-10362720 | SAEC | small airway: | n/a |
| 29 | chr12:10362670-10362720 | AG09309 | skin: | n/a |
| 30 | chr12:10362670-10362720 | AG10803 | skin: | n/a |
| 31 | chr12:10362670-10362720 | SKMC | muscle: | n/a |
| 32 | chr12:10362670-10362720 | MCF10A-Er-Src | breast: | n/a |
| 33 | chr12:10362670-10362720 | ProgFib | skin: | n/a |
| 34 | chr12:10362670-10362720 | HCF | heart: | n/a |
| 35 | chr12:10362670-10362720 | SK-N-SH | brain: | n/a |
| 36 | chr12:10362670-10362720 | HL-60 | blood: | n/a |
| 37 | chr12:10362670-10362720 | A549 | lung: | n/a |
| 38 | chr12:10362670-10362720 | BE2_C | brain: | n/a |
| 39 | chr12:10362670-10362720 | ovcar-3 | ovarian: | n/a |
| 40 | chr12:10362670-10362720 | GM12891 | blood: | n/a |
| 41 | chr12:10362670-10362720 | HCM | heart: | n/a |
| 42 | chr12:10362670-10362720 | HIPEpiC | eye: | n/a |
| 43 | chr12:10362670-10362720 | GM19239 | blood: | n/a |
| 44 | chr12:10362670-10362720 | HUVEC | blood vessel: | n/a |
| 45 | chr12:10362670-10362720 | Jurkat | blood: | n/a |
| 46 | chr12:10362670-10362720 | AG04449 | skin: | fetal |
| 47 | chr12:10362670-10362720 | PrEC | prostate: | n/a |
| 48 | chr12:10362670-10362720 | NH-A | brain: | n/a |
| 49 | chr12:10362670-10362720 | AoSMC | blood vessel: | n/a |
| 50 | chr12:10362670-10362720 | HRPEpiC | eye: | n/a |
(count:6 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:10359114..10362383-chr12:10362970..10365838,4 | K562 | blood: | |
| 2 | chr12:9913257..9914775-chr12:10363988..10366451,2 | K562 | blood: | |
| 3 | chr12:10363710..10369534-chr12:10376619..10381190,6 | K562 | blood: | |
| 4 | chr12:10265365..10267011-chr12:10359911..10362410,2 | K562 | blood: | |
| 5 | chr12:10359203..10362383-chr12:10363485..10365495,4 | K562 | blood: | |
| 6 | chr12:10364094..10366158-chr12:10825514..10827785,2 | K562 | blood: |
(count:2 , 50 per page) page:
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| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-OLR1-5 | chr12:10364207-10364319 | NONHSAT026870 |
| 2 | lnc-OLR1-5 | chr12:10364207-10364719 | NONHSAT026871 |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| GABARAPL1 | TF binding region |
| GABARAPL1 | CpG island |
| ENSG00000134539 | chromatin interactions |
| ENSG00000060140 | chromatin interactions |
| ENSG00000110848 | chromatin interactions |
| ENSG00000139112 | chromatin interactions |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs4764324 | chr12:10362224-10362225 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 2 | rs148910673 | chr12:10362267-10362268 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs188361519 | chr12:10362306-10362307 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs147006042 | chr12:10362328-10362329 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs545959757 | chr12:10362338-10362339 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs180734039 | chr12:10362339-10362340 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs534835385 | chr12:10362343-10362344 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs11053684 | chr12:10362349-10362350 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs386760252 | chr12:10362360-10362361 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs114786479 | chr12:10362361-10362362 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs562161853 | chr12:10362396-10362397 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs185251509 | chr12:10362460-10362461 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs551119725 | chr12:10362477-10362478 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs189570507 | chr12:10362479-10362480 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs539657880 | chr12:10362506-10362507 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs60697506 | chr12:10362517-10362518 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs181913277 | chr12:10362528-10362529 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs546732435 | chr12:10362530-10362531 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs566655638 | chr12:10362574-10362575 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs113216003 | chr12:10362594-10362595 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs535787570 | chr12:10362602-10362603 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs555363960 | chr12:10362614-10362615 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs574928178 | chr12:10362618-10362619 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs147625900 | chr12:10362623-10362624 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs144218807 | chr12:10362672-10362673 | Weak transcription Enhancers | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
| 26 | rs368707850 | chr12:10362680-10362681 | Weak transcription Enhancers | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
| 27 | rs557453427 | chr12:10362708-10362709 | Weak transcription Enhancers | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
| 28 | rs577285411 | chr12:10362724-10362725 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs546091365 | chr12:10362733-10362734 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs559853064 | chr12:10362762-10362763 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs573355442 | chr12:10362763-10362764 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs375339610 | chr12:10362789-10362790 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs369444712 | chr12:10362801-10362802 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs186797826 | chr12:10362829-10362830 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs10845069 | chr12:10362835-10362836 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 36 | rs149894025 | chr12:10362854-10362855 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs12821011 | chr12:10362875-10362876 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 38 | rs368224814 | chr12:10362909-10362910 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs191647947 | chr12:10362910-10362911 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs117443249 | chr12:10362919-10362920 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs10845070 | chr12:10362923-10362924 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 42 | rs181352173 | chr12:10362943-10362944 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs186370360 | chr12:10362959-10362960 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs142166070 | chr12:10363006-10363007 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs549286826 | chr12:10363016-10363017 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs568784245 | chr12:10363081-10363082 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs115689992 | chr12:10363088-10363089 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs557291591 | chr12:10363131-10363132 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs12819087 | chr12:10363141-10363142 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs117759834 | chr12:10363143-10363144 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:85)
| 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 |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:10358200-10364600 | Weak transcription | H1 Cell Line | embryonic stem cell |
| 2 | chr12:10358200-10364600 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 3 | chr12:10358600-10364600 | Weak transcription | Muscle Satellite Cultured Cells | -- |
| 4 | chr12:10358800-10364200 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
| 5 | chr12:10358800-10364200 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
| 6 | chr12:10358800-10365000 | Weak transcription | Placenta Amnion | Placenta Amnion |
| 7 | chr12:10358800-10365000 | Weak transcription | Hela-S3 | cervix |
| 8 | chr12:10359000-10362600 | Weak transcription | Placenta | Placenta |
| 9 | chr12:10359200-10364200 | Weak transcription | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 10 | chr12:10360200-10364600 | Weak transcription | HUVEC | blood vessel |
| 11 | chr12:10360600-10364600 | Weak transcription | Fetal Adrenal Gland | Adrenal Gland |
| 12 | chr12:10360800-10364600 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 13 | chr12:10362600-10364800 | Enhancers | Placenta | Placenta |
| 14 | chr12:10363400-10364600 | Enhancers | Fetal Muscle Trunk | muscle |
| 15 | chr12:10363800-10364600 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
| 16 | chr12:10363800-10364600 | Enhancers | Foreskin Melanocyte Primary Cells skin01 | Skin |
| 17 | chr12:10364000-10367400 | Active TSS | ES-I3 Cell Line | embryonic stem cell |
| 18 | chr12:10364200-10364400 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 19 | chr12:10364200-10364400 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 20 | chr12:10364200-10364400 | Enhancers | A549 | lung |
| 21 | chr12:10364200-10364600 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 22 | chr12:10364200-10364600 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
| 23 | chr12:10364200-10364600 | Enhancers | K562 | blood |
| 24 | chr12:10364200-10365000 | Enhancers | Primary monocytes fromperipheralblood | blood |
| 25 | chr12:10364200-10367600 | Active TSS | HSMMtube | muscle |
