Variant report
Variant | esv12701 |
---|---|
Chromosome Location | chr22:20312511-20324442 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:139)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- 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 | BATF | chr22:20319289-20319572 | GM12878 | blood: | n/a | n/a |
2 | BATF | chr22:20319274-20319484 | GM12878 | blood: | n/a | n/a |
3 | BCL11A | chr22:20321425-20321604 | GM12878 | blood: | n/a | n/a |
4 | CBX3 | chr22:20312261-20312686 | K562 | blood: | n/a | n/a |
5 | CEBPD | chr22:20316091-20316510 | K562 | blood: | n/a | n/a |
6 | ELF1 | chr22:20324133-20324398 | K562 | blood: | n/a | n/a |
7 | EP300 | chr22:20319349-20319865 | GM12878 | blood: | n/a | n/a |
8 | EP300 | chr22:20313019-20313281 | GM12878 | blood: | n/a | n/a |
9 | EP300 | chr22:20320762-20321670 | GM12878 | blood: | n/a | n/a |
10 | EP300 | chr22:20321385-20321542 | GM12878 | blood: | n/a | n/a |
11 | FOSL2 | chr22:20313266-20313550 | HepG2 | liver: | n/a | n/a |
12 | FOSL2 | chr22:20320684-20321029 | HepG2 | liver: | n/a | n/a |
13 | FOSL2 | chr22:20320775-20321211 | HepG2 | liver: | n/a | n/a |
14 | FOSL2 | chr22:20313837-20314095 | HepG2 | liver: | n/a | n/a |
15 | FOSL2 | chr22:20319316-20319682 | HepG2 | liver: | n/a | n/a |
16 | GABPA | chr22:20321305-20321561 | Hela-S3 | cervix: | n/a | n/a |
17 | GABPA | chr22:20321825-20322072 | Hela-S3 | cervix: | n/a | n/a |
18 | GATA1 | chr22:20316106-20316412 | K562 | blood: | n/a | n/a |
19 | GATA2 | chr22:20316117-20316446 | SH-SY5Y | brain: | n/a | n/a |
20 | GATA2 | chr22:20322341-20322759 | K562 | blood: | n/a | n/a |
21 | GATA2 | chr22:20318553-20320275 | K562 | blood: | n/a | n/a |
22 | GATA2 | chr22:20313848-20314691 | K562 | blood: | n/a | n/a |
23 | GATA2 | chr22:20314860-20315209 | K562 | blood: | n/a | n/a |
24 | GATA2 | chr22:20315519-20315878 | K562 | blood: | n/a | n/a |
25 | GATA2 | chr22:20320980-20321373 | K562 | blood: | n/a | n/a |
26 | GATA2 | chr22:20318162-20318474 | K562 | blood: | n/a | n/a |
27 | GATA2 | chr22:20321376-20322072 | K562 | blood: | n/a | n/a |
28 | GATA2 | chr22:20316912-20317763 | K562 | blood: | n/a | n/a |
29 | GATA2 | chr22:20322841-20323200 | K562 | blood: | n/a | n/a |
30 | GATA2 | chr22:20316020-20316909 | K562 | blood: | n/a | n/a |
31 | GATA3 | chr22:20316135-20316407 | SH-SY5Y | brain: | n/a | n/a |
32 | GATA3 | chr22:20316164-20316412 | T-47D | breast: | n/a | n/a |
33 | GATA3 | chr22:20316153-20316382 | T-47D | breast: | n/a | n/a |
34 | HEY1 | chr22:20319339-20319782 | K562 | blood: | n/a | n/a |
35 | HEY1 | chr22:20320860-20321663 | K562 | blood: | n/a | n/a |
36 | HEY1 | chr22:20318636-20318855 | K562 | blood: | n/a | n/a |
37 | HEY1 | chr22:20321758-20322060 | K562 | blood: | n/a | n/a |
38 | IRF4 | chr22:20313794-20314166 | GM12878 | blood: | n/a | n/a |
39 | IRF4 | chr22:20321369-20321697 | GM12878 | blood: | n/a | n/a |
40 | JUND | chr22:20321111-20321237 | HepG2 | liver: | n/a | n/a |
41 | JUND | chr22:20321389-20321531 | HepG2 | liver: | n/a | n/a |
42 | JUND | chr22:20323283-20323517 | HepG2 | liver: | n/a | n/a |
43 | KAP1 | chr22:20318238-20318276 | K562 | blood: | n/a | n/a |
44 | KAP1 | chr22:20324242-20324391 | K562 | blood: | n/a | n/a |
45 | KAP1 | chr22:20312502-20312678 | K562 | blood: | n/a | n/a |
46 | MYC | chr22:20316228-20316307 | H1-hESC | embryonic stem cell: | n/a | n/a |
47 | PAX5 | chr22:20321773-20322057 | GM12878 | blood: | n/a | n/a |
48 | PAX5 | chr22:20313289-20313614 | GM12878 | blood: | n/a | n/a |
49 | PAX5 | chr22:20319341-20319858 | GM12878 | blood: | n/a | n/a |
50 | PAX5 | chr22:20321361-20321540 | GM12878 | blood: | n/a | n/a |
No data |
(count:1 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr22:20310368..20313207-chr22:20800660..20802484,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
DGCR6L | TF binding region |
ENSG00000188424 | TF binding region |
ENSG00000099910 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs9606322 | chr22:20312602-20312603 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
2 | rs568697555 | chr22:20312616-20312617 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs9606323 | chr22:20312668-20312669 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs376324341 | chr22:20312700-20312701 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs370378383 | chr22:20312723-20312724 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs9606324 | chr22:20312737-20312738 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs1309267 | chr22:20312825-20312826 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs146399175 | chr22:20312878-20312879 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs111862489 | chr22:20312879-20312880 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs554282438 | chr22:20312930-20312931 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs550697009 | chr22:20312945-20312946 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs539821395 | chr22:20312963-20312964 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs558387996 | chr22:20312979-20312980 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs575184359 | chr22:20313006-20313007 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs112429020 | chr22:20313011-20313012 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs370759034 | chr22:20313039-20313040 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs62217961 | chr22:20313086-20313087 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs56407284 | chr22:20313299-20313300 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs574618558 | chr22:20313490-20313491 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs539949579 | chr22:20313498-20313499 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs189281804 | chr22:20313665-20313666 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs116141170 | chr22:20313666-20313667 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs180894894 | chr22:20313706-20313707 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs563146444 | chr22:20313720-20313721 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs532019682 | chr22:20313730-20313731 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs530184007 | chr22:20313736-20313737 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs187244038 | chr22:20313755-20313756 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs568551034 | chr22:20313783-20313784 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs527930375 | chr22:20313824-20313825 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs1309268 | chr22:20313930-20313931 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs547525545 | chr22:20313946-20313947 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs570932035 | chr22:20314121-20314122 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs200183474 | chr22:20314124-20314125 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs539415100 | chr22:20314157-20314158 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs5762589 | chr22:20314300-20314301 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs556117911 | chr22:20314354-20314355 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs201537272 | chr22:20314462-20314463 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs569752500 | chr22:20314472-20314473 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs537741267 | chr22:20314479-20314480 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs554492695 | chr22:20314605-20314606 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs574500468 | chr22:20314629-20314630 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs111844073 | chr22:20314648-20314649 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs540432084 | chr22:20314657-20314658 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs553553418 | chr22:20314680-20314681 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs374434750 | chr22:20314699-20314700 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs139118237 | chr22:20314716-20314717 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs545941925 | chr22:20314732-20314733 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs562451517 | chr22:20314778-20314779 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs112286989 | chr22:20315290-20315291 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs531374256 | chr22:20315294-20315295 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Hodgkin''s lymphoma | 18641027 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Velocardiofacial syndrome | 20111667 | CNVD |
Medulloblastoma | 21979893 | CNVD |
sporadic solitary meningiomas | 19589153 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Autism | 22102821 | CNVD |
Autism | 22495311 | CNVD |
Lung cancer | 18438408 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Emanuel syndrome | 21549014 | CNVD |
Digeorge syndrome | 22283845 | CNVD |
Schizophrenia | 17504246 | CNVD |
Digeorge syndrome | 18033723 | CNVD |
22q11 deletion syndrome | 17034021 | CNVD |
22q11 deletion syndrome | 22511897 | CNVD |
22q11 deletion syndrome | 16829213 | CNVD |
Autism | 22067053 | CNVD |
Autism | 19218893 | CNVD |
Biliary cancer | 22067053 | CNVD |
Congenital heart defect | 21390462 | CNVD |
Digeorge syndrome | 16617304 | CNVD |
Emanuel syndrome | 18184694 | CNVD |
Non-syndromic sensorineural hearing loss | 18184694 | CNVD |
Obsessive-compulsive disorder | 22067053 | CNVD |
Psychosis | 22067053 | CNVD |
Schizophrenia | 19415332 | CNVD |
Schizophrenia | 20587603 | CNVD |
Shprintzen syndrome | 19443537 | CNVD |
absent pulmonary valve syndrome | 16795129 | CNVD |
language delay | 22067053 | CNVD |
periventricular nodular heterotopia | 20648244 | CNVD |
renal disease | 17924346 | CNVD |
Schizophrenia | 20433910 | CNVD |
22q11 deletion syndrome | 17028864 | CNVD |
Schizophrenia | 16969581 | CNVD |
Non-syndromic sensorineural hearing loss | 17135275 | CNVD |
velo-cardio-facial syndrome | 17135275 | CNVD |
Digeorge syndrome | 18787571 | CNVD |
Autism | 18925931 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
22q11.2 microdeletion syndrome | 21547621 | CNVD |
Congenital heart defect | 21308838 | CNVD |
Digeorge syndrome | 16512914 | CNVD |
Digeorge syndrome | 20954168 | CNVD |
Nuchal translucency | 21837766 | CNVD |
Right aortic arch in the fetus | 17066500 | CNVD |
Shprintzen syndrome | 17117043 | CNVD |
Tetralogy of fallot | 17405110 | CNVD |
Velocardiofacial syndrome | 20140301 | CNVD |
Velocardiofacial syndrome | 16512914 | CNVD |
bone mass and metabolism | 20516202 | CNVD |
choanal atresia | 18209138 | CNVD |
extracardiac malformations | 17086578 | CNVD |
fetal heart defects | 21308838 | CNVD |
parathyroid gland dysfunction | 16793949 | CNVD |
prenatal diagnosis | 20453657 | CNVD |
velopharyngeal insufficiency | 19620585 | CNVD |
Prader-willi syndrome | 20942916 | CNVD |
22q11 deletion syndrome | 17653112 | CNVD |
Chronic myelomonocytic leukemia | 16760666 | CNVD |
Non-syndromic sensorineural hearing loss | 16829213 | CNVD |
Non-syndromic sensorineural hearing loss | 16760666 | CNVD |
Chordoma | 21602918 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Congenital heart defect | 22511896 | CNVD |
Breast cancer | 17603634 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Seminomas | 18059402 | CNVD |
Cancer | 16751803 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Acute lymphoblastic leukemia | 19100363 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Metachromatic leukodystrophy | 18421352 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Gastrointestinal stromal cancer | 17535989 | CNVD |
Paraganglioma | 17535989 | CNVD |
Pulmonary chondroma | 17535989 | CNVD |
Breast cancer | 17142309 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Breast cancer | 21858162 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Breast cancer | 21509527 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Prostate cancer | 18632612 | CNVD |
Gastric cancer | 22591714 | CNVD |
Autism | 22958593 | CNVD |
Digeorge syndrome | 16199537 | CNVD |
Schizophrenia | 22958593 | CNVD |
Schizophrenia | 21285140 | CNVD |
Schizophrenia | 22241247 | CNVD |
Autism | 22241247 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 18628472 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Schizophrenia | 21399695 | CNVD |
22q11.21 microdeletion syndrome | 19193630 | CNVD |
Cat eye syndrome | 21549014 | CNVD |
Digeorge syndrome | 21549014 | CNVD |
22q11.2 microdeletion syndrome | 22051516 | CNVD |
22q11.2 microdeletion syndrome | 18483005 | CNVD |
22q11.2 microdeletion syndrome | 19565140 | CNVD |
22q11.2 microdeletion syndrome | 20396437 | CNVD |
22q11.2 microdeletion syndrome | 21390462 | CNVD |
22q11.2 microdeletion syndrome | 21573985 | CNVD |
Austim spectrum disorder | 21302340 | CNVD |
Autism | 20970697 | CNVD |
Bipolar disorder | 19114987 | CNVD |
Congenital heart defect | 21257016 | CNVD |
Developmental delay | 18414209 | CNVD |
DiGeorge-Velo cardiofacial | 19284877 | CNVD |
Epilepsy | 20970697 | CNVD |
Heart disease | 20551144 | CNVD |
Hughes'' syndrome | 16595601 | CNVD |
Mental retardation | 18414209 | CNVD |
Okamoto syndrome | 19046188 | CNVD |
Primary immunodeficiency | 22566803 | CNVD |
Schizophrenia | 20877625 | CNVD |
Schizophrenia | 20553308 | CNVD |
Schizophrenia | 21956041 | CNVD |
Schizophrenia | 20970697 | CNVD |
Tetralogy of Fallot | 22912587 | CNVD |
Velocardiofacial syndrome | 17556857 | CNVD |
Velocardiofacial syndrome | 20206275 | CNVD |
Velocardiofacial syndrome | 20970697 | CNVD |
delayed speech development | 21274400 | CNVD |
velo-cardio-facial syndrome | 16511839 | CNVD |
velo-cardio-facial syndrome | 21763005 | CNVD |
22q11.2 microdeletion syndrome | 18799940 | CNVD |
Digeorge syndrome | 20877625 | CNVD |
22q11.2 microdeletion syndrome | 18923514 | CNVD |
Congenital heart defect | 22185286 | CNVD |
DiGeorge-Velo cardiofacial | 16773131 | CNVD |
Digeorge syndrome | 20186050 | CNVD |
velo-cardio-facial conotruncal-face syndrome | 20186050 | CNVD |
22q11.2 microdeletion syndrome | 22116936 | CNVD |
Disorders of sex development | 22290220 | CNVD |
22q11.2 duplication syndrome | 18923514 | CNVD |
Autism | 22095694 | CNVD |
Mental retardation | 19951919 | CNVD |
Honadal dysgenesis | 21048976 | CNVD |
Mental retardation | 16773131 | CNVD |
22q11.2 microdeletion syndrome | 22395003 | CNVD |
22q11.2 microdeletion syndrome | 18691436 | CNVD |
22q11.2 microdeletion syndrome | 18053182 | CNVD |
22q11.2 microdeletion syndrome | 18324686 | CNVD |
22q11.2 microdeletion syndrome | 20074913 | CNVD |
Congenital heart defect | 20802965 | CNVD |
Congenital heart defect | 21134246 | CNVD |
DiGeorge syndrome | 19040613 | CNVD |
DiGeorge-Velo cardiofacial | 18179902 | CNVD |
Digeorge syndrome | 18172682 | CNVD |
Digeorge syndrome | 22470819 | CNVD |
Digeorge syndrome | 21364285 | CNVD |
Neuroendocrine carcinoma | 22470819 | CNVD |
Non-syndromic sensorineural hearing loss | 20069674 | CNVD |
Smith-Magenis syndrome | 18301319 | CNVD |
Tetralogy of fallot | 19144126 | CNVD |
Velo-cardio-facial syndrome | 21364285 | CNVD |
Velocardiofacial syndrome | 18788013 | CNVD |
cardiac malformation | 20573211 | CNVD |
cardiac malformation | 18172682 | CNVD |
velo-cardio-facial syndrome | 18636631 | CNVD |
Schizophrenia | 21822266 | CNVD |
synaptic plasticity | 21368174 | CNVD |
Schizophrenia | 18043741 | CNVD |
sporadic birth defects | 19047251 | CNVD |
Autism | 19046189 | CNVD |
DiGeorge-Velo cardiofacial | 19047251 | CNVD |
Hypernasal speech | 21968682 | CNVD |
Mental retardation | 17339581 | CNVD |
diverse phenotype | 16760730 | CNVD |
Mental retardation | 20152051 | CNVD |
Breast cancer | 16608533 | CNVD |
Melanoma | 18172304 | CNVD |
Ovarian cancer | 22174824 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Wilms tumour | 21544195 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Autism | 19521722 | CNVD |
Digeorge syndrome | 19521722 | CNVD |
Autism | 19955444 | CNVD |
Schizophrenia | 19955444 | CNVD |
Mental retardation | 17124404 | CNVD |
Tourette syndrome | 20069037 | CNVD |
Williams-beuren syndrome | 18553513 | CNVD |
Emphysema | 19352772 | CNVD |
Schizophrenia | 17160897 | CNVD |
Cancer | 17160897 | CNVD |
Neuropsychiatric disorder | 20069037 | CNVD |
DiGeorge-Velo cardiofacial | 17597781 | CNVD |
Digeorge syndrome | 17576883 | CNVD |
Schizophrenia | 18806272 | CNVD |
Schizophrenia | 18990708 | CNVD |
Velocardiofacial syndrome | 17576883 | CNVD |
Schizophrenia | 20075378 | CNVD |
Neurodevelopmental disorder | 17015230 | CNVD |
Cancer | 17440070 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Esophageal cancer | 21851588 | CNVD |
22q11.2 deletion syndrome | 22563040 | CNVD |
cardiac septal defect | 19239688 | CNVD |
Disease | 21346257 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Developmental delay | 21147756 | CNVD |
Breast cancer | 22522925 | CNVD |
Cancer | 20164919 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr22:20308800-20313400 | Weak transcription | H9 Cell Line | embryonic stem cell |
2 | chr22:20309200-20313200 | Weak transcription | Spleen | Spleen |
3 | chr22:20309200-20327000 | Weak transcription | Right Atrium | heart |
4 | chr22:20309400-20315600 | Weak transcription | Dnd41 | blood |
5 | chr22:20311800-20315800 | Weak transcription | Primary T helper 17 cells PMA-I stimulated | -- |
6 | chr22:20311800-20316200 | Weak transcription | Primary T helper memory cells from peripheral blood 1 | blood |
7 | chr22:20312000-20313600 | Weak transcription | Primary T cells from cord blood | blood |
8 | chr22:20312000-20313600 | Weak transcription | Fetal Thymus | thymus |
9 | chr22:20312000-20315800 | Weak transcription | Primary T helper cells PMA-I stimulated | -- |
10 | chr22:20312200-20313600 | Weak transcription | Primary T helper naive cells from peripheral blood | blood |
11 | chr22:20312200-20314600 | Weak transcription | Primary T killer memory cells from peripheral blood | blood |
12 | chr22:20312200-20315400 | Weak transcription | Primary T helper memory cells from peripheral blood 2 | blood |
13 | chr22:20312200-20315400 | Weak transcription | Primary T helper naive cells fromperipheralblood | blood |
14 | chr22:20312200-20316000 | Weak transcription | Primary T cells fromperipheralblood | blood |
15 | chr22:20312200-20316000 | Weak transcription | Primary T helper cells fromperipheralblood | blood |
16 | chr22:20312200-20316200 | Weak transcription | Primary T regulatory cells fromperipheralblood | blood |
17 | chr22:20313600-20313800 | Enhancers | Primary T cells from cord blood | blood |
18 | chr22:20313600-20313800 | Enhancers | Primary T helper naive cells from peripheral blood | blood |
19 | chr22:20313600-20313800 | Enhancers | Fetal Thymus | thymus |
20 | chr22:20313800-20314200 | Weak transcription | Primary T helper naive cells from peripheral blood | blood |
21 | chr22:20313800-20314600 | Weak transcription | Fetal Thymus | thymus |
22 | chr22:20314200-20314800 | Enhancers | Primary T helper naive cells from peripheral blood | blood |
23 | chr22:20314600-20314800 | Enhancers | Primary T killer memory cells from peripheral blood | blood |
24 | chr22:20314600-20314800 | Enhancers | Fetal Thymus | thymus |
25 | chr22:20315400-20315600 | Enhancers | Primary Natural Killer cells fromperipheralblood | blood |
26 | chr22:20315400-20316200 | Active TSS | Primary T helper naive cells fromperipheralblood | blood |
27 | chr22:20315400-20317000 | Enhancers | Primary T helper memory cells from peripheral blood 2 | blood |
28 | chr22:20315600-20316400 | Flanking Active TSS | Dnd41 | blood |
29 | chr22:20315600-20317000 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
30 | chr22:20315800-20316400 | Enhancers | Primary T helper 17 cells PMA-I stimulated | -- |
31 | chr22:20315800-20316800 | Enhancers | Primary T helper cells PMA-I stimulated | -- |
32 | chr22:20316000-20316200 | Active TSS | Primary T cells fromperipheralblood | blood |
33 | chr22:20316000-20316200 | Enhancers | K562 | blood |
34 | chr22:20316000-20317000 | Enhancers | Primary T helper cells fromperipheralblood | blood |
35 | chr22:20316200-20316400 | Flanking Active TSS | Primary T cells fromperipheralblood | blood |
36 | chr22:20316200-20316400 | Flanking Active TSS | Primary T helper naive cells fromperipheralblood | blood |
37 | chr22:20316200-20316400 | Enhancers | Primary T regulatory cells fromperipheralblood | blood |
38 | chr22:20316200-20316400 | Enhancers | Primary Natural Killer cells fromperipheralblood | blood |
39 | chr22:20316200-20316400 | Bivalent Enhancer | K562 | blood |
40 | chr22:20316200-20317000 | Enhancers | Primary T helper memory cells from peripheral blood 1 | blood |
41 | chr22:20316200-20317000 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
42 | chr22:20316400-20316600 | Enhancers | K562 | blood |
43 | chr22:20316400-20317000 | Enhancers | Dnd41 | blood |
44 | chr22:20316800-20317000 | Enhancers | Primary T helper naive cells from peripheral blood | blood |
45 | chr22:20316800-20317000 | Enhancers | K562 | blood |