Variant report
Variant | esv1818807 |
---|---|
Chromosome Location | chr22:23300887-23321164 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:64)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr22:23301109..23301947-chr22:23468669..23469381,3 | MCF-7 | breast: | |
2 | chr22:23302255..23302789-chr22:23727921..23728846,2 | MCF-7 | breast: | |
3 | chr22:23301036..23302224-chr9:133921813..133922729,7 | K562 | blood: | |
4 | chr22:23291324..23292487-chr22:23300573..23301627,3 | K562 | blood: | |
5 | chr22:23152352..23153037-chr22:23301206..23301893,2 | K562 | blood: | |
6 | chr22:23219288..23219961-chr22:23301164..23301804,2 | K562 | blood: | |
7 | chr22:23300028..23302470-chr22:23469129..23471005,3 | K562 | blood: | |
8 | chr22:23301062..23301649-chr22:23419776..23420411,2 | MCF-7 | breast: | |
9 | chr22:23301407..23302031-chr22:23455093..23455815,2 | K562 | blood: | |
10 | chr22:23315568..23317235-chr22:23404346..23406388,2 | K562 | blood: | |
11 | chr22:23301131..23301755-chr22:23504260..23504993,2 | K562 | blood: | |
12 | chr22:23301064..23302052-chr9:133816083..133817399,7 | K562 | blood: | |
13 | chr22:23301037..23302377-chr22:23623248..23624813,25 | K562 | blood: | |
14 | chr22:23302491..23304383-chr22:23468441..23470876,3 | K562 | blood: | |
15 | chr22:23302245..23304998-chr22:23365475..23368091,3 | K562 | blood: | |
16 | chr22:23301147..23302267-chr22:23472305..23473430,4 | K562 | blood: | |
17 | chr22:23319787..23321847-chr22:23327565..23331301,3 | K562 | blood: | |
18 | chr22:23300239..23302916-chr22:23468459..23471796,133 | K562 | blood: | |
19 | chr22:23302548..23304907-chr22:23315495..23317772,2 | K562 | blood: | |
20 | chr22:23301479..23302049-chr22:23520363..23521253,2 | K562 | blood: | |
21 | chr22:23302548..23304907-chr22:23315495..23317772,2 | K562 | blood: | |
22 | chr22:23308835..23310799-chr22:23315542..23317146,2 | K562 | blood: | |
23 | chr22:23301164..23302046-chr22:23744481..23745477,3 | K562 | blood: | |
24 | chr22:23301059..23301715-chr9:133741498..133742055,2 | K562 | blood: | |
25 | chr22:23299971..23302330-chr22:23451052..23453693,2 | K562 | blood: | |
26 | chr22:23301398..23302985-chr22:23332672..23334778,2 | K562 | blood: | |
27 | chr22:23301237..23303684-chr22:23305266..23307803,2 | K562 | blood: | |
28 | chr22:23319910..23322514-chr22:23328699..23331402,2 | K562 | blood: | |
29 | chr22:23300037..23302100-chr22:23469484..23472123,54 | MCF-7 | breast: | |
30 | chr22:23284838..23286479-chr22:23301714..23303911,2 | K562 | blood: | |
31 | chr22:23190251..23190811-chr22:23300574..23301389,3 | MCF-7 | breast: | |
32 | chr22:23315777..23318049-chr22:23339791..23341553,2 | K562 | blood: | |
33 | chr22:23301139..23301970-chr22:24191417..24192339,2 | K562 | blood: | |
34 | chr22:23301210..23302026-chr22:23727802..23728448,2 | MCF-7 | breast: | |
35 | chr22:23300732..23303000-chr22:23470162..23471332,25 | MCF-7 | breast: | |
36 | chr22:23301312..23301892-chr22:23623736..23624987,4 | MCF-7 | breast: | |
37 | chr22:23301052..23302043-chr22:23318124..23319081,4 | K562 | blood: | |
38 | chr22:23301286..23302002-chr22:23468660..23469503,2 | MCF-7 | breast: | |
39 | chr22:23301153..23301965-chr22:23727829..23728713,3 | K562 | blood: | |
40 | chr22:23301052..23302043-chr22:23318124..23319081,4 | K562 | blood: | |
41 | chr22:23299468..23301749-chr22:23487397..23488942,2 | K562 | blood: | |
42 | chr22:23301047..23302061-chr9:133607069..133607993,4 | K562 | blood: | |
43 | chr22:23301543..23302176-chr8:109879514..109880343,2 | MCF-7 | breast: | |
44 | chr22:23301237..23303684-chr22:23305266..23307803,2 | K562 | blood: | |
45 | chr22:23302245..23304998-chr22:23365554..23368091,2 | K562 | blood: | |
46 | chr22:23300129..23300932-chr22:23515871..23516734,2 | MCF-7 | breast: | |
47 | chr22:23291472..23293714-chr22:23301648..23303481,2 | K562 | blood: | |
48 | chr22:23301549..23302724-chr22:23327158..23327956,3 | K562 | blood: | |
49 | chr22:23301242..23301858-chr22:23461578..23462204,2 | MCF-7 | breast: | |
50 | chr22:23301060..23302071-chr9:133873402..133874393,9 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000237472 | chromatin interactions |
ENSG00000186716 | chromatin interactions |
ENSG00000133519 | chromatin interactions |
ENSG00000100228 | chromatin interactions |
ENSG00000223679 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs10483114 | chr22:23300887-23300888 | Weak transcription Strong transcription | Chromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs114934818 | chr22:23300888-23300889 | Weak transcription Strong transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
3 | rs373248477 | chr22:23300921-23300922 | Weak transcription Strong transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
4 | rs372035873 | chr22:23300958-23300959 | Weak transcription Strong transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
5 | rs149042085 | chr22:23300959-23300960 | Weak transcription Strong transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
6 | rs555805459 | chr22:23300975-23300976 | Weak transcription Strong transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
7 | rs575442981 | chr22:23301015-23301016 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
8 | rs116478978 | chr22:23301016-23301017 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
9 | rs561527427 | chr22:23301025-23301026 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
10 | rs530364898 | chr22:23301031-23301032 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
11 | rs187445449 | chr22:23301037-23301038 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
12 | rs540904515 | chr22:23301069-23301070 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
13 | rs138627024 | chr22:23301096-23301097 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
14 | rs532524197 | chr22:23301141-23301142 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
15 | rs552723378 | chr22:23301146-23301147 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
16 | rs569335692 | chr22:23301184-23301185 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
17 | rs550357264 | chr22:23301202-23301203 | Enhancers Bivalent Enhancer Weak transcription Strong transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
18 | rs531537356 | chr22:23301216-23301217 | Enhancers Bivalent Enhancer Weak transcription Strong transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
19 | rs548132667 | chr22:23301224-23301225 | Enhancers Bivalent Enhancer Weak transcription Strong transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
20 | rs6003417 | chr22:23301245-23301246 | Enhancers Bivalent Enhancer Weak transcription Strong transcription | Chromatin interactive region | 3 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
21 | rs191890863 | chr22:23301277-23301278 | Enhancers Bivalent Enhancer Weak transcription Strong transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
22 | rs2013551 | chr22:23301330-23301331 | Enhancers Bivalent Enhancer Weak transcription Strong transcription | Chromatin interactive region | 3 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
23 | rs2013554 | chr22:23301336-23301337 | Enhancers Bivalent Enhancer Weak transcription Strong transcription | Chromatin interactive region | 3 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs539005446 | chr22:23301351-23301352 | Enhancers Bivalent Enhancer Weak transcription Strong transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
25 | rs374535412 | chr22:23301418-23301419 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
26 | rs140291771 | chr22:23301428-23301429 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
27 | rs145756103 | chr22:23301450-23301451 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
28 | rs541898344 | chr22:23301471-23301472 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
29 | rs554896587 | chr22:23301512-23301513 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
30 | rs2877090 | chr22:23301513-23301514 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 4 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
31 | rs540594063 | chr22:23301560-23301561 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
32 | rs148143900 | chr22:23301563-23301564 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
33 | rs114548278 | chr22:23301570-23301571 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
34 | rs377755735 | chr22:23301591-23301592 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
35 | rs567198000 | chr22:23301596-23301597 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
36 | rs539325375 | chr22:23301609-23301610 | Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
37 | rs75504879 | chr22:23301629-23301630 | Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
38 | rs562867962 | chr22:23301630-23301631 | Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
39 | rs371198551 | chr22:23301632-23301633 | Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
40 | rs141984815 | chr22:23301695-23301696 | Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
41 | rs150699495 | chr22:23301758-23301759 | Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
42 | rs182947364 | chr22:23301801-23301802 | Bivalent Enhancer Enhancers Weak transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
43 | rs188048148 | chr22:23301818-23301819 | Bivalent Enhancer Enhancers Weak transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
44 | rs570365635 | chr22:23301885-23301886 | Bivalent Enhancer Enhancers Weak transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
45 | rs575525339 | chr22:23301889-23301890 | Bivalent Enhancer Enhancers Weak transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
46 | rs539342091 | chr22:23301977-23301978 | Bivalent Enhancer Enhancers Weak transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
47 | rs2330332 | chr22:23302004-23302005 | Bivalent Enhancer Enhancers Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
48 | rs192324033 | chr22:23302039-23302040 | Bivalent Enhancer Enhancers Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
49 | rs544699165 | chr22:23302042-23302043 | Bivalent Enhancer Enhancers Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
50 | rs554726561 | chr22:23302051-23302052 | Bivalent Enhancer Enhancers Weak 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 |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Cancer | 20164919 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr22:23297000-23301000 | Weak transcription | Brain Hippocampus Middle | brain |
2 | chr22:23298000-23301800 | Strong transcription | Right Atrium | heart |
3 | chr22:23298800-23302200 | Weak transcription | Duodenum Mucosa | Duodenum |
4 | chr22:23301000-23301800 | Enhancers | Brain Hippocampus Middle | brain |
5 | chr22:23301200-23301400 | Bivalent Enhancer | iPS-20b Cell Line | embryonic stem cell |
6 | chr22:23301200-23301600 | Enhancers | Fetal Kidney | kidney |
7 | chr22:23301200-23302200 | Enhancers | H9 Cell Line | embryonic stem cell |
8 | chr22:23301200-23302600 | Enhancers | Rectal Mucosa Donor 29 | rectum |
9 | chr22:23301400-23301600 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
10 | chr22:23301600-23301800 | Flanking Active TSS | ES-I3 Cell Line | embryonic stem cell |
11 | chr22:23301600-23301800 | Flanking Active TSS | HUES6 Cell Line | embryonic stem cell |
12 | chr22:23301600-23301800 | Flanking Active TSS | iPS-20b Cell Line | embryonic stem cell |
13 | chr22:23301600-23302600 | Bivalent Enhancer | H1 Cell Line | embryonic stem cell |
14 | chr22:23301600-23302600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
15 | chr22:23301600-23302800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
16 | chr22:23301600-23302800 | Enhancers | Fetal Intestine Large | intestine |
17 | chr22:23301600-23303000 | Enhancers | Stomach Mucosa | stomach |
18 | chr22:23301600-23303600 | Enhancers | Liver | Liver |
19 | chr22:23301600-23303600 | Enhancers | HepG2 | liver |
20 | chr22:23301800-23302200 | Enhancers | HUES6 Cell Line | embryonic stem cell |
21 | chr22:23301800-23302200 | Enhancers | Left Ventricle | heart |
22 | chr22:23301800-23302400 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
23 | chr22:23301800-23302600 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
24 | chr22:23301800-23304400 | Weak transcription | Right Atrium | heart |
25 | chr22:23302000-23302200 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
26 | chr22:23302000-23303200 | Enhancers | Adipose Nuclei | Adipose |
27 | chr22:23302000-23303200 | Enhancers | Fetal Intestine Small | intestine |
28 | chr22:23302200-23302600 | Enhancers | Rectal Mucosa Donor 31 | rectum |
29 | chr22:23302200-23303400 | Enhancers | Duodenum Mucosa | Duodenum |
30 | chr22:23304400-23304600 | ZNF genes & repeats | Right Atrium | heart |
31 | chr22:23304600-23307000 | Weak transcription | Right Atrium | heart |
32 | chr22:23310200-23311400 | Enhancers | Liver | Liver |
33 | chr22:23311400-23316400 | Weak transcription | Liver | Liver |
34 | chr22:23315400-23328200 | Weak transcription | Right Atrium | heart |
35 | chr22:23316400-23317600 | Enhancers | Liver | Liver |
36 | chr22:23316600-23317400 | Enhancers | Pancreatic Islets | Pancreatic Islet |
37 | chr22:23317600-23317800 | Flanking Active TSS | Liver | Liver |
38 | chr22:23317800-23318000 | Enhancers | Liver | Liver |
39 | chr22:23318000-23318200 | Flanking Active TSS | Liver | Liver |
40 | chr22:23318200-23318400 | Enhancers | Liver | Liver |