Variant report
| Variant | nsv1047523 |
|---|---|
| Chromosome Location | chr12:37987714-38393648 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:9)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:9 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:38038013..38039001-chr3:156392284..156392894,2 | MCF-7 | breast: | |
| 2 | chr12:38031932..38033432-chr6:58775709..58777615,2 | MCF-7 | breast: | |
| 3 | chr12:38032912..38033432-chr6:58774035..58775015,2 | MCF-7 | breast: | |
| 4 | chr12:38092578..38093097-chr2:92306640..92307159,2 | MCF-7 | breast: | |
| 5 | chr12:38031911..38033432-chr6:58776341..58779018,2 | MCF-7 | breast: | |
| 6 | chr11:48862246..48863766-chr12:38036979..38038502,2 | MCF-7 | breast: | |
| 7 | chr12:38062177..38062716-chr12:38709963..38710509,2 | MCF-7 | breast: | |
| 8 | chr12:38143553..38144054-chr18:18519761..18520264,2 | MCF-7 | breast: | |
| 9 | chr12:38032931..38033431-chr6:58776879..58777388,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000175548 | chromatin interactions |
| ENSG00000163659 | chromatin interactions |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs151245997 | chr12:37989604-37989605 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs541320701 | chr12:37989611-37989612 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs7301679 | chr12:37989629-37989630 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs529936753 | chr12:37989634-37989635 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs543126812 | chr12:37989654-37989655 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs139278780 | chr12:37989663-37989664 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs117058915 | chr12:37989679-37989680 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs551763209 | chr12:37989680-37989681 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs58039291 | chr12:37989690-37989691 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs182852892 | chr12:37989717-37989718 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs375329741 | chr12:37989789-37989790 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs11169555 | chr12:37989806-37989807 | ZNF genes & repeats Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs145274717 | chr12:37989810-37989811 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs536477901 | chr12:37989840-37989841 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs556360719 | chr12:37989863-37989864 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs569376078 | chr12:37989873-37989874 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs538355520 | chr12:37989895-37989896 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs558083027 | chr12:37989896-37989897 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs572052063 | chr12:37989905-37989906 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs146498976 | chr12:37989906-37989907 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs540956104 | chr12:37989909-37989910 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs554881474 | chr12:37989933-37989934 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs574522780 | chr12:37989941-37989942 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs543609598 | chr12:37989947-37989948 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs374940920 | chr12:37989950-37989951 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs386762126 | chr12:37989956-37989957 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs563483942 | chr12:37989962-37989963 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs77461296 | chr12:37989969-37989970 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs74893713 | chr12:37989970-37989971 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs545568546 | chr12:37989976-37989977 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs368206548 | chr12:37989981-37989982 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs376650497 | chr12:37989988-37989989 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs565126923 | chr12:37989989-37989990 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs538260561 | chr12:37990001-37990002 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs76497717 | chr12:37990013-37990014 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs79488154 | chr12:37990015-37990016 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs144486771 | chr12:37990016-37990017 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs527719057 | chr12:37990018-37990019 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs547753431 | chr12:37990049-37990050 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs373532655 | chr12:37990054-37990055 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs142139526 | chr12:37990084-37990085 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs75940084 | chr12:37990101-37990102 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs530341450 | chr12:37990108-37990109 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs372512995 | chr12:37990124-37990125 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs113880908 | chr12:37990128-37990129 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs200626263 | chr12:37990134-37990135 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs201437782 | chr12:37990135-37990136 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs199780554 | chr12:37990136-37990137 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs112415597 | chr12:37990146-37990147 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs200954904 | chr12:37990148-37990149 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:62)
| 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 |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| Osteosarcoma | 21215367 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:37989600-37991400 | Weak transcription | HUVEC | blood vessel |
| 2 | chr12:37989800-38041200 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 3 | chr12:37990000-37990400 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
| 4 | chr12:37990000-37990400 | ZNF genes & repeats | Primary T helper naive cells from peripheral blood | blood |
| 5 | chr12:37990000-37990400 | ZNF genes & repeats | Psoas Muscle | Psoas |
| 6 | chr12:37990000-37993400 | ZNF genes & repeats | Primary T cells from cord blood | blood |
| 7 | chr12:37990000-38040800 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 8 | chr12:37990400-37993600 | Weak transcription | Psoas Muscle | Psoas |
| 9 | chr12:37990400-38014000 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 10 | chr12:37991400-37991600 | ZNF genes & repeats | HUVEC | blood vessel |
| 11 | chr12:37991400-37992200 | ZNF genes & repeats | Fetal Heart | heart |
| 12 | chr12:37991400-37993200 | ZNF genes & repeats | Primary hematopoietic stem cells | blood |
| 13 | chr12:37991600-37992200 | ZNF genes & repeats | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 14 | chr12:37991600-37994000 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
| 15 | chr12:37991600-37994400 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 16 | chr12:37991800-37992200 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
| 17 | chr12:37991800-37992200 | ZNF genes & repeats | Primary T helper naive cells from peripheral blood | blood |
| 18 | chr12:37991800-37998200 | Weak transcription | K562 | blood |
| 19 | chr12:37993600-37994400 | Active TSS | Psoas Muscle | Psoas |
| 20 | chr12:37995200-38003400 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
| 21 | chr12:37997200-38000200 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
| 22 | chr12:37997400-37997800 | ZNF genes & repeats | Fetal Brain Male | brain |
| 23 | chr12:37997400-37998400 | ZNF genes & repeats | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 24 | chr12:37997800-37998800 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell |
| 25 | chr12:37997800-38000200 | ZNF genes & repeats | HepG2 | liver |
| 26 | chr12:37998000-37998400 | ZNF genes & repeats | Primary hematopoietic stem cells short term culture | blood |
| 27 | chr12:37998000-37998600 | ZNF genes & repeats | iPS-15b Cell Line | embryonic stem cell |
| 28 | chr12:37998000-38002400 | ZNF genes & repeats | Primary T cells from cord blood | blood |
| 29 | chr12:37998000-38002800 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 30 | chr12:37998200-37998400 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 31 | chr12:37998200-37998400 | Bivalent Enhancer | H9 Derived Neuron Cultured Cells | ES cell derived |
| 32 | chr12:37998200-37998400 | ZNF genes & repeats | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 33 | chr12:37998200-37998400 | ZNF genes & repeats | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 34 | chr12:37998200-37998400 | ZNF genes & repeats | Primary T helper naive cells from peripheral blood | blood |
| 35 | chr12:37998200-37998400 | ZNF genes & repeats | Primary T helper naive cells fromperipheralblood | blood |
| 36 | chr12:37998200-37998400 | ZNF genes & repeats | Primary T helper cells PMA-I stimulated | -- |
| 37 | chr12:37998200-37998400 | ZNF genes & repeats | Primary T helper 17 cells PMA-I stimulated | -- |
| 38 | chr12:37998200-37998400 | ZNF genes & repeats | Primary T regulatory cells fromperipheralblood | blood |
| 39 | chr12:37998200-37998400 | ZNF genes & repeats | Primary T cells effector/memory enriched fromperipheralblood | blood |
| 40 | chr12:37998200-37998400 | Enhancers | Aorta | Aorta |
| 41 | chr12:37998200-37998400 | ZNF genes & repeats | Liver | Liver |
| 42 | chr12:37998200-37998400 | ZNF genes & repeats | Brain Cingulate Gyrus | brain |
| 43 | chr12:37998200-37998400 | ZNF genes & repeats | Brain Hippocampus Middle | brain |
| 44 | chr12:37998200-37998400 | ZNF genes & repeats | Brain Inferior Temporal Lobe | brain |
| 45 | chr12:37998200-37998400 | ZNF genes & repeats | Brain Dorsolateral Prefrontal Cortex | brain |
| 46 | chr12:37998200-37998400 | ZNF genes & repeats | Brain Substantia Nigra | brain |
| 47 | chr12:37998200-37998400 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 48 | chr12:37998200-37998400 | ZNF genes & repeats | Rectal Mucosa Donor 31 | rectum |
| 49 | chr12:37998200-37998400 | ZNF genes & repeats | Skeletal Muscle Female | skeletal muscle |
| 50 | chr12:37998200-37998400 | ZNF genes & repeats | Stomach Mucosa | stomach |
