Variant report
| Variant | esv13222 |
|---|---|
| Chromosome Location | chr12:37990409-38450414 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:18)
- LncRNA region (count:3)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:18 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:38062177..38062716-chr12:38709963..38710509,2 | MCF-7 | breast: | |
| 2 | chr12:38031932..38033432-chr6:58775709..58777615,2 | MCF-7 | breast: | |
| 3 | chr12:38450015..38451840-chr2:133028967..133030976,3 | MCF-7 | breast: | |
| 4 | chr12:38143553..38144054-chr18:18519761..18520264,2 | MCF-7 | breast: | |
| 5 | chr12:38038013..38039001-chr3:156392284..156392894,2 | MCF-7 | breast: | |
| 6 | chr12:38447143..38447662-chr2:133026232..133026787,2 | MCF-7 | breast: | |
| 7 | chr12:38031911..38033432-chr6:58776341..58779018,2 | MCF-7 | breast: | |
| 8 | chr12:38032912..38033432-chr6:58774035..58775015,2 | MCF-7 | breast: | |
| 9 | chr12:38032931..38033431-chr6:58776879..58777388,2 | MCF-7 | breast: | |
| 10 | chr12:38092578..38093097-chr2:92306640..92307159,2 | MCF-7 | breast: | |
| 11 | chr12:38444870..38446396-chr2:133021688..133023192,2 | K562 | blood: | |
| 12 | chr12:38444306..38445077-chr21:37485779..37486279,2 | MCF-7 | breast: | |
| 13 | chr12:38444806..38446368-chr16:33959419..33960990,2 | MCF-7 | breast: | |
| 14 | chr12:38444887..38445591-chr16:33959228..33959997,3 | MCF-7 | breast: | |
| 15 | chr12:38444597..38445444-chr16:33958723..33959994,4 | MCF-7 | breast: | |
| 16 | chr12:38444829..38445449-chr2:133022690..133023552,2 | MCF-7 | breast: | |
| 17 | chr12:38444870..38446430-chr16:33959034..33960923,3 | MCF-7 | breast: | |
| 18 | chr11:48862246..48863766-chr12:38036979..38038502,2 | MCF-7 | breast: |
(count:3 , 50 per page) page:
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| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-CPNE8-8 | chr12:38447469-38447570 | NONHSAT027671 |
| 2 | lnc-ALG10B-6 | chr12:38449724-38450322 | NONHSAT027672 |
| 3 | lnc-CPNE8-8 | chr12:38450354-38450755 | NONHSAT027671 |
| 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 | rs138421250 | chr12:37990419-37990420 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs147306801 | chr12:37990423-37990424 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs201144080 | chr12:37990433-37990434 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs145179709 | chr12:37990438-37990439 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs187810086 | chr12:37990443-37990444 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs142141764 | chr12:37990446-37990447 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs543406822 | chr12:37990451-37990452 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs561134439 | chr12:37990468-37990469 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs76559014 | chr12:37990475-37990476 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs201727108 | chr12:37990476-37990477 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs376007025 | chr12:37990477-37990478 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs137883903 | chr12:37990487-37990488 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs370533313 | chr12:37990488-37990489 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs144785518 | chr12:37990491-37990492 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs554974997 | chr12:37990501-37990502 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs530283460 | chr12:37990513-37990514 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs550106880 | chr12:37990516-37990517 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs184539169 | chr12:37990536-37990537 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs563527885 | chr12:37990538-37990539 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs77327399 | chr12:37990546-37990547 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs551962677 | chr12:37990555-37990556 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs187784089 | chr12:37990557-37990558 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs61923579 | chr12:37990561-37990562 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs373693262 | chr12:37990569-37990570 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs61923580 | chr12:37990578-37990579 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs61923581 | chr12:37990581-37990582 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs61923582 | chr12:37990586-37990587 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs565738297 | chr12:37990593-37990594 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs11833336 | chr12:37990603-37990604 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs148858123 | chr12:37990611-37990612 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs139401217 | chr12:37990613-37990614 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs146093747 | chr12:37990619-37990620 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs142209490 | chr12:37990623-37990624 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs568545456 | chr12:37990625-37990626 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs79772852 | chr12:37990633-37990634 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs140400092 | chr12:37990634-37990635 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs548123640 | chr12:37990646-37990647 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs200580441 | chr12:37990648-37990649 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs369479707 | chr12:37990670-37990671 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs113216481 | chr12:37990713-37990714 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs568111589 | chr12:37990724-37990725 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs537336346 | chr12:37990749-37990750 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs12319432 | chr12:37990753-37990754 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs570639577 | chr12:37990759-37990760 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs10876106 | chr12:37990767-37990768 | ZNF genes & repeats Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 46 | rs192628695 | chr12:37990785-37990786 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs79587440 | chr12:37990786-37990787 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs200678615 | chr12:37990794-37990795 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs11836567 | chr12:37990803-37990804 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs373145223 | chr12:37990811-37990812 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:63)
| 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 |
| Cancer | 21272361 | 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 | chr12:37990000-37993400 | ZNF genes & repeats | Primary T cells from cord blood | blood |
| 4 | chr12:37990000-38040800 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 5 | chr12:37990400-37993600 | Weak transcription | Psoas Muscle | Psoas |
| 6 | chr12:37990400-38014000 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 7 | chr12:37991400-37991600 | ZNF genes & repeats | HUVEC | blood vessel |
| 8 | chr12:37991400-37992200 | ZNF genes & repeats | Fetal Heart | heart |
| 9 | chr12:37991400-37993200 | ZNF genes & repeats | Primary hematopoietic stem cells | blood |
| 10 | chr12:37991600-37992200 | ZNF genes & repeats | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 11 | chr12:37991600-37994000 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
| 12 | chr12:37991600-37994400 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 13 | chr12:37991800-37992200 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
| 14 | chr12:37991800-37992200 | ZNF genes & repeats | Primary T helper naive cells from peripheral blood | blood |
| 15 | chr12:37991800-37998200 | Weak transcription | K562 | blood |
| 16 | chr12:37993600-37994400 | Active TSS | Psoas Muscle | Psoas |
| 17 | chr12:37995200-38003400 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
| 18 | chr12:37997200-38000200 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
| 19 | chr12:37997400-37997800 | ZNF genes & repeats | Fetal Brain Male | brain |
| 20 | chr12:37997400-37998400 | ZNF genes & repeats | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 21 | chr12:37997800-37998800 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell |
| 22 | chr12:37997800-38000200 | ZNF genes & repeats | HepG2 | liver |
| 23 | chr12:37998000-37998400 | ZNF genes & repeats | Primary hematopoietic stem cells short term culture | blood |
| 24 | chr12:37998000-37998600 | ZNF genes & repeats | iPS-15b Cell Line | embryonic stem cell |
| 25 | chr12:37998000-38002400 | ZNF genes & repeats | Primary T cells from cord blood | blood |
| 26 | chr12:37998000-38002800 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 27 | chr12:37998200-37998400 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 28 | chr12:37998200-37998400 | Bivalent Enhancer | H9 Derived Neuron Cultured Cells | ES cell derived |
| 29 | chr12:37998200-37998400 | ZNF genes & repeats | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 30 | chr12:37998200-37998400 | ZNF genes & repeats | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 31 | chr12:37998200-37998400 | ZNF genes & repeats | Primary T helper naive cells from peripheral blood | blood |
| 32 | chr12:37998200-37998400 | ZNF genes & repeats | Primary T helper naive cells fromperipheralblood | blood |
| 33 | chr12:37998200-37998400 | ZNF genes & repeats | Primary T helper cells PMA-I stimulated | -- |
| 34 | chr12:37998200-37998400 | ZNF genes & repeats | Primary T helper 17 cells PMA-I stimulated | -- |
| 35 | chr12:37998200-37998400 | ZNF genes & repeats | Primary T regulatory cells fromperipheralblood | blood |
| 36 | chr12:37998200-37998400 | ZNF genes & repeats | Primary T cells effector/memory enriched fromperipheralblood | blood |
| 37 | chr12:37998200-37998400 | Enhancers | Aorta | Aorta |
| 38 | chr12:37998200-37998400 | ZNF genes & repeats | Liver | Liver |
| 39 | chr12:37998200-37998400 | ZNF genes & repeats | Brain Cingulate Gyrus | brain |
| 40 | chr12:37998200-37998400 | ZNF genes & repeats | Brain Hippocampus Middle | brain |
| 41 | chr12:37998200-37998400 | ZNF genes & repeats | Brain Inferior Temporal Lobe | brain |
| 42 | chr12:37998200-37998400 | ZNF genes & repeats | Brain Dorsolateral Prefrontal Cortex | brain |
| 43 | chr12:37998200-37998400 | ZNF genes & repeats | Brain Substantia Nigra | brain |
| 44 | chr12:37998200-37998400 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 45 | chr12:37998200-37998400 | ZNF genes & repeats | Rectal Mucosa Donor 31 | rectum |
| 46 | chr12:37998200-37998400 | ZNF genes & repeats | Skeletal Muscle Female | skeletal muscle |
| 47 | chr12:37998200-37998400 | ZNF genes & repeats | Stomach Mucosa | stomach |
| 48 | chr12:37998200-37998400 | ZNF genes & repeats | Dnd41 | blood |
| 49 | chr12:37998200-37998400 | ZNF genes & repeats | HMEC | breast |
| 50 | chr12:37998200-37998400 | ZNF genes & repeats | HSMMtube | muscle |
