Variant report
Variant | nsv966044 |
---|---|
Chromosome Location | chr22:23285291-23286847 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:27)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:27 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr22:23222535..23224853-chr22:23284989..23286522,2 | K562 | blood: | |
2 | chr22:23221725..23222375-chr22:23284654..23285494,2 | K562 | blood: | |
3 | chr22:23285600..23288138-chr22:23326228..23328719,2 | K562 | blood: | |
4 | chr22:23225282..23228590-chr22:23283687..23286029,3 | K562 | blood: | |
5 | chr22:23249849..23250456-chr22:23284637..23285518,2 | K562 | blood: | |
6 | chr22:23197738..23198847-chr22:23284609..23285611,5 | K562 | blood: | |
7 | chr22:23284041..23286112-chr22:23478493..23480105,2 | K562 | blood: | |
8 | chr22:23269159..23271034-chr22:23285763..23287373,2 | K562 | blood: | |
9 | chr22:22785558..22786617-chr22:23284575..23285587,3 | K562 | blood: | |
10 | chr22:23226023..23226801-chr22:23284702..23285609,3 | MCF-7 | breast: | |
11 | chr22:23284666..23285391-chr22:23516333..23517110,2 | K562 | blood: | |
12 | chr22:23286541..23288859-chr22:23290512..23293076,4 | K562 | blood: | |
13 | chr22:23221177..23222015-chr22:23285000..23285592,2 | MCF-7 | breast: | |
14 | chr22:22819406..22819970-chr22:23284540..23285372,2 | K562 | blood: | |
15 | chr22:23283899..23286228-chr22:23288836..23291377,2 | K562 | blood: | |
16 | chr22:23225838..23226619-chr22:23284830..23285631,2 | MCF-7 | breast: | |
17 | chr22:23112482..23113319-chr22:23284645..23285620,4 | K562 | blood: | |
18 | chr22:23219377..23220300-chr22:23285004..23285686,2 | MCF-7 | breast: | |
19 | chr22:23198000..23198685-chr22:23284805..23285520,2 | MCF-7 | breast: | |
20 | chr22:23130105..23131333-chr22:23284629..23286108,6 | K562 | blood: | |
21 | chr22:23284838..23286479-chr22:23301714..23303911,2 | K562 | blood: | |
22 | chr22:23283899..23288368-chr22:23289284..23293076,7 | K562 | blood: | |
23 | chr22:23190268..23191337-chr22:23284651..23285662,10 | K562 | blood: | |
24 | chr22:23095751..23096677-chr22:23284775..23285721,4 | K562 | blood: | |
25 | chr22:23144452..23145531-chr22:23284649..23285995,6 | K562 | blood: | |
26 | chr22:23151805..23153470-chr22:23284634..23285984,10 | K562 | blood: | |
27 | chr22:23225869..23226888-chr22:23284493..23285611,4 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000207832 | chromatin interactions |
ENSG00000211655 | chromatin interactions |
ENSG00000221069 | chromatin interactions |
ENSG00000264824 | chromatin interactions |
ENSG00000211673 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs374517190 | chr22:23285293-23285294 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
2 | rs113385040 | chr22:23285312-23285313 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
3 | rs183117720 | chr22:23285328-23285329 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
4 | rs527702955 | chr22:23285344-23285345 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
5 | rs113266039 | chr22:23285370-23285371 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
6 | rs570963429 | chr22:23285403-23285404 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
7 | rs539971333 | chr22:23285412-23285413 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
8 | rs138902207 | chr22:23285435-23285436 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
9 | rs118076404 | chr22:23285451-23285452 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
10 | rs537687654 | chr22:23285453-23285454 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
11 | rs376550074 | chr22:23285457-23285458 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
12 | rs76088148 | chr22:23285474-23285475 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
13 | rs143385282 | chr22:23285500-23285501 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
14 | rs555261583 | chr22:23285515-23285516 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
15 | rs571972200 | chr22:23285516-23285517 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
16 | rs115002342 | chr22:23285540-23285541 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
17 | rs376147947 | chr22:23285543-23285544 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
18 | rs77357114 | chr22:23285579-23285580 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
19 | rs543543175 | chr22:23285645-23285646 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
20 | rs563216135 | chr22:23285652-23285653 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
21 | rs576599646 | chr22:23285653-23285654 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
22 | rs187452041 | chr22:23285655-23285656 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
23 | rs562378044 | chr22:23285658-23285659 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
24 | rs527946019 | chr22:23285676-23285677 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
25 | rs8137688 | chr22:23285694-23285695 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
26 | rs191896737 | chr22:23285705-23285706 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
27 | rs375683839 | chr22:23285706-23285707 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
28 | rs550274889 | chr22:23285737-23285738 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
29 | rs536412722 | chr22:23285746-23285747 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
30 | rs554766973 | chr22:23285749-23285750 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
31 | rs535652114 | chr22:23285768-23285769 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
32 | rs111934781 | chr22:23285802-23285803 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
33 | rs565641029 | chr22:23285826-23285827 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
34 | rs534646997 | chr22:23285862-23285863 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
35 | rs557620620 | chr22:23285886-23285887 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
36 | rs577596329 | chr22:23285888-23285889 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
37 | rs536614945 | chr22:23285898-23285899 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
38 | rs183241993 | chr22:23285946-23285947 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
39 | rs12160186 | chr22:23285967-23285968 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
40 | rs542446631 | chr22:23285986-23285987 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
41 | rs75069314 | chr22:23285987-23285988 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
42 | rs572669681 | chr22:23286038-23286039 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
43 | rs541782680 | chr22:23286042-23286043 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
44 | rs564746218 | chr22:23286044-23286045 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
45 | rs459488 | chr22:23286059-23286060 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
46 | rs113172932 | chr22:23286075-23286076 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
47 | rs562484314 | chr22:23286093-23286094 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
48 | rs540674033 | chr22:23286129-23286130 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs549870829 | chr22:23286251-23286252 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs563810938 | chr22:23286252-23286253 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 1 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 | 22495311 | 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 |
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 | 21858162 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Breast cancer | 21509527 | CNVD |
Hodgkin''s lymphoma | 17606441 | 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 |
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 |
Neuropsychiatric disorder | 20069037 | CNVD |
Williams-beuren syndrome | 18553513 | CNVD |
Emphysema | 19352772 | CNVD |
Cancer | 17440070 | CNVD |
Endometrioid adenocarcinoma | 16974079 | 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 |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Developmental delay | 21147756 | CNVD |
Cutaneous T-cell lymphoma | 21881587 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Asthma | 21956041 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Colorectal cancer | 21128281 | CNVD |
Systemic lupus erythematosus | 21956041 | CNVD |
Primary central nervous system lymphoma | 21088137 | CNVD |
22q11.23 microdeletion syndrome | 19193630 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Chronic myeloid leukemia | 21384125 | CNVD |
Autism | 20841430 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Breast cancer | 21785460 | CNVD |
Medullary thyroid carcinoma | 18765511 | CNVD |
Lung cancer | 18438408 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Ependymoma | 20639864 | CNVD |
Schizophrenia | 17989066 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Cancer | 20164919 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr22:23259400-23290200 | Enhancers | Primary B cells from peripheral blood | blood |
2 | chr22:23263600-23289400 | Enhancers | Primary B cells from cord blood | blood |
3 | chr22:23281200-23285600 | Enhancers | Primary monocytes fromperipheralblood | blood |
4 | chr22:23281600-23289200 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
5 | chr22:23282400-23285600 | Enhancers | Monocytes-CD14+_RO01746 | blood |
6 | chr22:23283400-23286800 | Enhancers | Primary Natural Killer cells fromperipheralblood | blood |
7 | chr22:23283800-23287400 | Enhancers | Dnd41 | blood |
8 | chr22:23284600-23285400 | Enhancers | Primary T helper cells PMA-I stimulated | -- |
9 | chr22:23284600-23285400 | Enhancers | Fetal Thymus | thymus |
10 | chr22:23284600-23286800 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
11 | chr22:23284600-23287000 | Strong transcription | Right Atrium | heart |
12 | chr22:23284800-23286000 | Flanking Active TSS | GM12878-XiMat | blood |
13 | chr22:23284800-23286000 | Bivalent Enhancer | K562 | blood |
14 | chr22:23284800-23288000 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
15 | chr22:23285200-23286000 | Bivalent Enhancer | Colonic Mucosa | Colon |
16 | chr22:23285200-23286400 | Weak transcription | Spleen | Spleen |
17 | chr22:23285600-23286800 | Weak transcription | Monocytes-CD14+_RO01746 | blood |
18 | chr22:23285600-23287000 | Weak transcription | Primary monocytes fromperipheralblood | blood |
19 | chr22:23286000-23290200 | Enhancers | GM12878-XiMat | blood |
20 | chr22:23286400-23287000 | Enhancers | Spleen | Spleen |
21 | chr22:23286800-23287200 | Genic enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
22 | chr22:23286800-23288800 | Enhancers | Monocytes-CD14+_RO01746 | blood |
23 | chr22:23286800-23289000 | Weak transcription | Primary Natural Killer cells fromperipheralblood | blood |