Variant report
Variant | nsv966151 |
---|---|
Chromosome Location | chr22:20732529-20744745 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:34)
- CpG islands (count:0)
- Chromatin interactive region (count:12)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:34 , 50 per page) page:
1
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | ATF1 | chr22:20732632-20732673 | K562 | blood: | n/a | n/a |
2 | BACH1 | chr22:20743575-20743699 | K562 | blood: | n/a | n/a |
3 | BATF | chr22:20743184-20743435 | GM12878 | blood: | n/a | n/a |
4 | CEBPB | chr22:20741322-20741560 | HepG2 | liver: | n/a | chr22:20741456-20741467 |
5 | CTCF | chr22:20735274-20735306 | LNCaP | prostate: | n/a | n/a |
6 | E2F4 | chr22:20740698-20740996 | MCF10A-Er-Src | breast: | n/a | n/a |
7 | EP300 | chr22:20739867-20740059 | GM12878 | blood: | n/a | n/a |
8 | EP300 | chr22:20743151-20743401 | GM12878 | blood: | n/a | n/a |
9 | EP300 | chr22:20740289-20740607 | GM12878 | blood: | n/a | n/a |
10 | EP300 | chr22:20741994-20742006 | K562 | blood: | n/a | n/a |
11 | EP300 | chr22:20739732-20740028 | K562 | blood: | n/a | chr22:20739853-20739862 |
12 | FOS | chr22:20740664-20740990 | MCF10A-Er-Src | breast: | n/a | n/a |
13 | FOS | chr22:20734842-20735143 | MCF10A-Er-Src | breast: | n/a | n/a |
14 | FOS | chr22:20734862-20735142 | MCF10A-Er-Src | breast: | n/a | n/a |
15 | FOS | chr22:20740665-20740941 | MCF10A-Er-Src | breast: | n/a | n/a |
16 | IRF1 | chr22:20734216-20734281 | K562 | blood: | n/a | n/a |
17 | JUN | chr22:20741381-20741546 | HepG2 | liver: | n/a | chr22:20741453-20741466 |
18 | KAP1 | chr22:20741734-20742001 | K562 | blood: | n/a | n/a |
19 | KAP1 | chr22:20739939-20740206 | K562 | blood: | n/a | n/a |
20 | MYC | chr22:20734815-20735077 | MCF10A-Er-Src | breast: | n/a | n/a |
21 | MYC | chr22:20735043-20735132 | H1-hESC | embryonic stem cell: | n/a | n/a |
22 | MYC | chr22:20734781-20735120 | MCF10A-Er-Src | breast: | n/a | n/a |
23 | POLR2A | chr22:20735905-20735975 | H1-hESC | embryonic stem cell: | n/a | n/a |
24 | RFX5 | chr22:20741769-20741948 | K562 | blood: | n/a | n/a |
25 | SP1 | chr22:20743151-20743466 | HepG2 | liver: | n/a | n/a |
26 | SPI1 | chr22:20735984-20736199 | K562 | blood: | n/a | n/a |
27 | STAT3 | chr22:20742809-20743009 | MCF10A-Er-Src | breast: | n/a | n/a |
28 | STAT3 | chr22:20741219-20741361 | MCF10A-Er-Src | breast: | n/a | n/a |
29 | STAT3 | chr22:20734806-20735060 | MCF10A-Er-Src | breast: | n/a | n/a |
30 | STAT5A | chr22:20740331-20740640 | K562 | blood: | n/a | chr22:20740546-20740557 |
31 | TBL1XR1 | chr22:20739900-20739926 | K562 | blood: | n/a | n/a |
32 | UBTF | chr22:20742852-20742864 | K562 | blood: | n/a | n/a |
33 | ZNF274 | chr22:20741450-20742051 | K562 | blood: | n/a | n/a |
34 | ZNF274 | chr22:20739440-20740209 | K562 | blood: | n/a | n/a |
No data |
(count:12 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr22:20740714..20742899-chr22:20744180..20745810,2 | K562 | blood: | |
2 | chr22:20744625..20746451-chr22:20748310..20750058,3 | MCF-7 | breast: | |
3 | chr22:20735819..20738394-chr22:20739317..20742032,2 | K562 | blood: | |
4 | chr22:20732956..20734641-chr22:20791336..20793024,2 | K562 | blood: | |
5 | chr22:20726809..20729682-chr22:20738180..20739849,2 | K562 | blood: | |
6 | chr22:20731915..20736379-chr22:20746331..20749449,6 | K562 | blood: | |
7 | chr22:20734100..20735721-chr22:20739123..20741298,2 | K562 | blood: | |
8 | chr22:20735819..20738394-chr22:20739317..20742032,2 | K562 | blood: | |
9 | chr22:20731915..20735140-chr22:20745527..20749276,4 | K562 | blood: | |
10 | chr22:20734100..20735721-chr22:20739123..20741298,2 | K562 | blood: | |
11 | chr22:20740340..20742875-chr22:20747087..20749280,2 | MCF-7 | breast: | |
12 | chr22:20733447..20735135-chr22:20753678..20755384,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
USP41 | TF binding region |
ZNF74 | TF binding region |
ENSG00000185252 | chromatin interactions |
ENSG00000161133 | chromatin interactions |
ENSG00000244486 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs11914006 | chr22:20732531-20732532 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs34771823 | chr22:20732537-20732538 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs80324809 | chr22:20732576-20732577 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs148920262 | chr22:20732577-20732578 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs545676653 | chr22:20732601-20732602 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs193070389 | chr22:20732661-20732662 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
7 | rs143837141 | chr22:20732709-20732710 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs548320856 | chr22:20732732-20732733 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs527824876 | chr22:20732750-20732751 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs185313622 | chr22:20732752-20732753 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs362064 | chr22:20732809-20732810 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
12 | rs547559561 | chr22:20732826-20732827 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs570438285 | chr22:20732858-20732859 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs539471325 | chr22:20732894-20732895 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs549526755 | chr22:20732913-20732914 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs570786232 | chr22:20732983-20732984 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
17 | rs57917463 | chr22:20733019-20733020 | Weak transcription | Chromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
18 | rs189819879 | chr22:20733030-20733031 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
19 | rs191951873 | chr22:20733034-20733035 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
20 | rs148161467 | chr22:20733089-20733090 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
21 | rs534773354 | chr22:20733121-20733122 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
22 | rs374725929 | chr22:20733136-20733137 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
23 | rs79609167 | chr22:20733171-20733172 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
24 | rs114073772 | chr22:20733232-20733233 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
25 | rs5760100 | chr22:20733271-20733272 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
26 | rs184201236 | chr22:20733283-20733284 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
27 | rs35765574 | chr22:20733308-20733309 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
28 | rs34369439 | chr22:20733375-20733376 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
29 | rs5751772 | chr22:20733382-20733383 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
30 | rs199987396 | chr22:20733385-20733386 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
31 | rs188139351 | chr22:20733447-20733448 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
32 | rs6003971 | chr22:20733495-20733496 | Weak transcription | Chromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
33 | rs541801385 | chr22:20733599-20733600 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
34 | rs180942534 | chr22:20733628-20733629 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
35 | rs527507956 | chr22:20733640-20733641 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
36 | rs547497953 | chr22:20733642-20733643 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
37 | rs362243 | chr22:20733667-20733668 | Weak transcription | Chromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
38 | rs112840037 | chr22:20733714-20733715 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
39 | rs549703466 | chr22:20733752-20733753 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
40 | rs371549390 | chr22:20733773-20733774 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
41 | rs138928403 | chr22:20733863-20733864 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
42 | rs9609613 | chr22:20733904-20733905 | Weak transcription | Chromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
43 | rs371653209 | chr22:20733957-20733958 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
44 | rs566247769 | chr22:20733974-20733975 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
45 | rs187277958 | chr22:20734008-20734009 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
46 | rs190516766 | chr22:20734011-20734012 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
47 | rs369389193 | chr22:20734024-20734025 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
48 | rs537160156 | chr22:20734052-20734053 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
49 | rs553851673 | chr22:20734064-20734065 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
50 | rs142463126 | chr22:20734069-20734070 | Weak transcription | Chromatin interactive region | 2 gene(s) | 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 |
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 |
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 |
Glioblastoma multiforme | 22286061 | 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 |
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 |
Developmental delay | 21147756 | CNVD |
Type 2 diabetes | 21526130 | CNVD |
Ependymoma | 20639864 | CNVD |
Cancer | 20164919 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Schizophrenia | 21399695 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Prader-willi syndrome | 20588305 | CNVD |
T-cell acute lymphoblastic leukemia | 21980252 | CNVD |
22q11.22 microdeletion syndrome | 19193630 | CNVD |
Cancer | 20164920 | CNVD |
Non-syndromic sensorineural hearing loss | 17289997 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Schizophrenia | 17989066 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Schizophrenia | 20967226 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr22:20721600-20743400 | Weak transcription | Right Atrium | heart |
2 | chr22:20728000-20734800 | Weak transcription | GM12878-XiMat | blood |
3 | chr22:20732000-20732600 | Enhancers | Fetal Thymus | thymus |
4 | chr22:20732200-20732600 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
5 | chr22:20734600-20735000 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
6 | chr22:20734600-20735200 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
7 | chr22:20734600-20735200 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
8 | chr22:20734800-20735200 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
9 | chr22:20734800-20735200 | Enhancers | GM12878-XiMat | blood |
10 | chr22:20734800-20735200 | Enhancers | HMEC | breast |
11 | chr22:20734800-20735200 | Enhancers | NHEK | skin |
12 | chr22:20734800-20735400 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
13 | chr22:20734800-20735400 | Enhancers | H1 Cell Line | embryonic stem cell |
14 | chr22:20734800-20735400 | Enhancers | HUES6 Cell Line | embryonic stem cell |
15 | chr22:20734800-20736400 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
16 | chr22:20735000-20735400 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
17 | chr22:20735000-20735400 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
18 | chr22:20740200-20741200 | Enhancers | Monocytes-CD14+_RO01746 | blood |
19 | chr22:20740400-20741000 | Enhancers | Primary neutrophils fromperipheralblood | blood |
20 | chr22:20740400-20741200 | Enhancers | Primary monocytes fromperipheralblood | blood |
21 | chr22:20741200-20747600 | Weak transcription | Monocytes-CD14+_RO01746 | blood |
22 | chr22:20743400-20744000 | ZNF genes & repeats | Right Atrium | heart |
23 | chr22:20744000-20747800 | Weak transcription | Right Atrium | heart |