Variant report
Variant | esv3355703 |
---|---|
Chromosome Location | chr22:20326052-20331450 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:267)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:3)
- 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 | chr22:20326192-20326467 | GM12878 | blood: | n/a | n/a |
2 | BATF | chr22:20329649-20329893 | GM12878 | blood: | n/a | n/a |
3 | BATF | chr22:20328893-20329077 | GM12878 | blood: | n/a | n/a |
4 | BATF | chr22:20330888-20331095 | GM12878 | blood: | n/a | n/a |
5 | BATF | chr22:20326170-20326467 | GM12878 | blood: | n/a | n/a |
6 | BCL11A | chr22:20326163-20326485 | GM12878 | blood: | n/a | n/a |
7 | BCL11A | chr22:20330008-20330277 | GM12878 | blood: | n/a | n/a |
8 | BCL11A | chr22:20330392-20330599 | GM12878 | blood: | n/a | n/a |
9 | BCL11A | chr22:20326174-20326459 | GM12878 | blood: | n/a | n/a |
10 | BHLHE40 | chr22:20326109-20326473 | HepG2 | liver: | n/a | n/a |
11 | BHLHE40 | chr22:20327562-20327761 | HepG2 | liver: | n/a | n/a |
12 | BHLHE40 | chr22:20325700-20326055 | HepG2 | liver: | n/a | n/a |
13 | CTCF | chr22:20325980-20326130 | HFF-Myc | foreskin: | n/a | n/a |
14 | CTCF | chr22:20329700-20329850 | GM12864 | blood: | n/a | chr22:20329802-20329810 |
15 | CTCF | chr22:20326040-20326190 | AG10803 | skin: | n/a | n/a |
16 | CTCF | chr22:20325960-20326110 | AG10803 | skin: | n/a | n/a |
17 | CTCF | chr22:20326207-20326451 | K562 | blood: | n/a | n/a |
18 | CTCF | chr22:20326040-20326190 | HCT-116 | colon: | n/a | n/a |
19 | CTCF | chr22:20326040-20326190 | HVMF | connective: | n/a | n/a |
20 | CTCF | chr22:20326168-20326385 | K562 | blood: | n/a | n/a |
21 | EBF1 | chr22:20326961-20327202 | GM12878 | blood: | n/a | chr22:20327033-20327042 chr22:20327031-20327041 chr22:20327030-20327043 |
22 | EBF1 | chr22:20326129-20326509 | GM12878 | blood: | n/a | n/a |
23 | EBF1 | chr22:20326164-20326468 | GM12878 | blood: | n/a | n/a |
24 | EBF1 | chr22:20328199-20328402 | GM12878 | blood: | n/a | n/a |
25 | EP300 | chr22:20326155-20326512 | GM12878 | blood: | n/a | n/a |
26 | EP300 | chr22:20329043-20329192 | GM12878 | blood: | n/a | n/a |
27 | EP300 | chr22:20329579-20331939 | GM12878 | blood: | n/a | n/a |
28 | EP300 | chr22:20328715-20329304 | GM12878 | blood: | n/a | n/a |
29 | EP300 | chr22:20327569-20327837 | GM12878 | blood: | n/a | n/a |
30 | EP300 | chr22:20327611-20327748 | GM12878 | blood: | n/a | n/a |
31 | EP300 | chr22:20330004-20330178 | GM12878 | blood: | n/a | n/a |
32 | EP300 | chr22:20327880-20328665 | GM12878 | blood: | n/a | chr22:20328344-20328358 chr22:20328025-20328039 |
33 | EP300 | chr22:20326186-20326454 | GM12878 | blood: | n/a | n/a |
34 | EP300 | chr22:20325724-20326059 | GM12878 | blood: | n/a | n/a |
35 | FOSL2 | chr22:20327559-20327854 | HepG2 | liver: | n/a | n/a |
36 | FOSL2 | chr22:20328724-20329320 | HepG2 | liver: | n/a | chr22:20328990-20329001 |
37 | FOSL2 | chr22:20326129-20326519 | HepG2 | liver: | n/a | n/a |
38 | FOSL2 | chr22:20326159-20326485 | HepG2 | liver: | n/a | n/a |
39 | FOSL2 | chr22:20325761-20326060 | HepG2 | liver: | n/a | n/a |
40 | FOSL2 | chr22:20330744-20331534 | HepG2 | liver: | n/a | n/a |
41 | FOSL2 | chr22:20328142-20328628 | HepG2 | liver: | n/a | chr22:20328346-20328355 |
42 | FOSL2 | chr22:20328055-20328639 | HepG2 | liver: | n/a | chr22:20328346-20328355 |
43 | FOSL2 | chr22:20329429-20330446 | HepG2 | liver: | n/a | n/a |
44 | FOSL2 | chr22:20329438-20330279 | HepG2 | liver: | n/a | n/a |
45 | FOSL2 | chr22:20330745-20332218 | HepG2 | liver: | n/a | n/a |
46 | FOSL2 | chr22:20325676-20326072 | HepG2 | liver: | n/a | n/a |
47 | FOXA1 | chr22:20327450-20327946 | HepG2 | liver: | n/a | n/a |
48 | FOXA1 | chr22:20325597-20326070 | HepG2 | liver: | n/a | n/a |
49 | FOXA1 | chr22:20326089-20326498 | HepG2 | liver: | n/a | n/a |
50 | FOXA1 | chr22:20327017-20327374 | HepG2 | liver: | n/a | n/a |
No data |
No data |
(count:3 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-AC007663.1-2 | chr22:20328520-20328578 | ENSG00000188424.4 |
2 | lnc-DGCR6L-1 | chr22:20330726-20331038 | XLOC_014300 |
3 | lnc-AC007663.1-2 | chr22:20329047-20329071 | ENSG00000188424.4 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000188424 | TF binding region |
AFTPH | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs76078542 | chr22:20326088-20326089 | Flanking Active TSS Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs372103330 | chr22:20326096-20326097 | Flanking Active TSS Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs112977614 | chr22:20326112-20326113 | Flanking Active TSS Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs533129762 | chr22:20326116-20326117 | Flanking Active TSS Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs372575521 | chr22:20326120-20326121 | Flanking Active TSS Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs200013553 | chr22:20326121-20326122 | Flanking Active TSS Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs549744829 | chr22:20326122-20326123 | Flanking Active TSS Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs373929193 | chr22:20326126-20326127 | Flanking Active TSS Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs369124458 | chr22:20326133-20326134 | Flanking Active TSS Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs200795702 | chr22:20326134-20326135 | Flanking Active TSS Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs201866147 | chr22:20326135-20326136 | Flanking Active TSS Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs200458413 | chr22:20326137-20326138 | Flanking Active TSS Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs201041433 | chr22:20326144-20326145 | Flanking Active TSS Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs371763479 | chr22:20326145-20326146 | Flanking Active TSS Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs368081699 | chr22:20326153-20326154 | Flanking Active TSS Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs569984385 | chr22:20326155-20326156 | Flanking Active TSS Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs112649584 | chr22:20326157-20326158 | Flanking Active TSS Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs77015984 | chr22:20326169-20326170 | Flanking Active TSS Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs77487276 | chr22:20326172-20326173 | Flanking Active TSS Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs78223405 | chr22:20326178-20326179 | Flanking Active TSS Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs79157693 | chr22:20326182-20326183 | Flanking Active TSS Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs77874941 | chr22:20326188-20326189 | Flanking Active TSS Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs538134603 | chr22:20326192-20326193 | Flanking Active TSS Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs76459823 | chr22:20326197-20326198 | Flanking Active TSS Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs80155690 | chr22:20326204-20326205 | Flanking Active TSS Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs75148470 | chr22:20326216-20326217 | Flanking Active TSS Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs367703758 | chr22:20326228-20326229 | Flanking Active TSS Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs372176001 | chr22:20326261-20326262 | Flanking Active TSS Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs375698443 | chr22:20326274-20326275 | Flanking Active TSS Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs369792562 | chr22:20326284-20326285 | Flanking Active TSS Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs373032285 | chr22:20326285-20326286 | Flanking Active TSS Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs377201162 | chr22:20326368-20326369 | Flanking Active TSS Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs369110394 | chr22:20326396-20326397 | Flanking Active TSS Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs372835520 | chr22:20326416-20326417 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs9605105 | chr22:20326476-20326477 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs74724718 | chr22:20326498-20326499 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs76368489 | chr22:20326511-20326512 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs9606328 | chr22:20326525-20326526 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs9606329 | chr22:20326527-20326528 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs113241837 | chr22:20326528-20326529 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs369401740 | chr22:20326533-20326534 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs373965546 | chr22:20326536-20326537 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs376892937 | chr22:20326544-20326545 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs371429968 | chr22:20326558-20326559 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs79667573 | chr22:20326569-20326570 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs78091979 | chr22:20326572-20326573 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs375508855 | chr22:20326590-20326591 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs9606330 | chr22:20326592-20326593 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs376852856 | chr22:20326597-20326598 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs371221219 | chr22:20326620-20326621 | 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 |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Cancer | 20164919 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr22:20309200-20327000 | Weak transcription | Right Atrium | heart |
2 | chr22:20325800-20326400 | Flanking Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
3 | chr22:20325800-20326400 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
4 | chr22:20325800-20326400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
5 | chr22:20326000-20326200 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
6 | chr22:20326200-20326400 | Enhancers | HUES64 Cell Line | embryonic stem cell |
7 | chr22:20330600-20331000 | Enhancers | Fetal Heart | heart |