Variant report
Variant | nsv820373 |
---|---|
Chromosome Location | chr22:21564170-21634274 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1110)
- CpG islands (count:183)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | ARID3A | chr22:21592118-21592318 | HepG2 | liver: | n/a | n/a |
2 | BATF | chr22:21630913-21631158 | GM12878 | blood: | n/a | n/a |
3 | BATF | chr22:21604490-21604702 | GM12878 | blood: | n/a | n/a |
4 | BATF | chr22:21597069-21597517 | GM12878 | blood: | n/a | n/a |
5 | BATF | chr22:21595314-21596320 | GM12878 | blood: | n/a | n/a |
6 | BATF | chr22:21598960-21599438 | GM12878 | blood: | n/a | n/a |
7 | BATF | chr22:21598826-21599972 | GM12878 | blood: | n/a | n/a |
8 | BATF | chr22:21595541-21595907 | GM12878 | blood: | n/a | n/a |
9 | BATF | chr22:21596510-21596681 | GM12878 | blood: | n/a | n/a |
10 | BATF | chr22:21598470-21598721 | GM12878 | blood: | n/a | chr22:21598499-21598512 |
11 | BATF | chr22:21622260-21622514 | GM12878 | blood: | n/a | n/a |
12 | BATF | chr22:21582473-21582683 | GM12878 | blood: | n/a | n/a |
13 | BATF | chr22:21612702-21613053 | GM12878 | blood: | n/a | n/a |
14 | BATF | chr22:21629925-21630195 | GM12878 | blood: | n/a | n/a |
15 | BATF | chr22:21589609-21589832 | GM12878 | blood: | n/a | n/a |
16 | BATF | chr22:21629855-21630214 | GM12878 | blood: | n/a | n/a |
17 | BATF | chr22:21633690-21634128 | GM12878 | blood: | n/a | n/a |
18 | BCL11A | chr22:21587068-21587284 | GM12878 | blood: | n/a | n/a |
19 | BCL11A | chr22:21598457-21598767 | GM12878 | blood: | n/a | n/a |
20 | BCL11A | chr22:21584761-21585002 | GM12878 | blood: | n/a | n/a |
21 | BCL11A | chr22:21618265-21618499 | GM12878 | blood: | n/a | n/a |
22 | BCL11A | chr22:21590153-21590357 | GM12878 | blood: | n/a | n/a |
23 | BCL11A | chr22:21620530-21620718 | GM12878 | blood: | n/a | n/a |
24 | BCL11A | chr22:21584076-21584251 | GM12878 | blood: | n/a | n/a |
25 | BCL11A | chr22:21564368-21564603 | GM12878 | blood: | n/a | n/a |
26 | BCL11A | chr22:21629922-21630182 | GM12878 | blood: | n/a | n/a |
27 | BCL11A | chr22:21622187-21622362 | GM12878 | blood: | n/a | n/a |
28 | BCL11A | chr22:21632912-21633155 | GM12878 | blood: | n/a | n/a |
29 | BCL11A | chr22:21597186-21597443 | GM12878 | blood: | n/a | n/a |
30 | BCL11A | chr22:21595087-21596596 | GM12878 | blood: | n/a | chr22:21595372-21595380 chr22:21595811-21595820 |
31 | BCL11A | chr22:21595561-21595820 | GM12878 | blood: | n/a | chr22:21595811-21595820 |
32 | BCL11A | chr22:21592466-21592660 | GM12878 | blood: | n/a | n/a |
33 | BCL11A | chr22:21597055-21597628 | GM12878 | blood: | n/a | n/a |
34 | BCL11A | chr22:21599067-21599394 | GM12878 | blood: | n/a | n/a |
35 | BCL11A | chr22:21598929-21599568 | GM12878 | blood: | n/a | n/a |
36 | BCL11A | chr22:21612781-21613104 | GM12878 | blood: | n/a | chr22:21612874-21612883 |
37 | BHLHE40 | chr22:21592463-21592666 | HepG2 | liver: | n/a | n/a |
38 | BHLHE40 | chr22:21623837-21624165 | HepG2 | liver: | n/a | n/a |
39 | BHLHE40 | chr22:21622151-21622381 | HepG2 | liver: | n/a | chr22:21622257-21622270 chr22:21622259-21622268 chr22:21622259-21622268 chr22:21622258-21622267 |
40 | BHLHE40 | chr22:21610162-21610410 | HepG2 | liver: | n/a | n/a |
41 | BHLHE40 | chr22:21609633-21609878 | HepG2 | liver: | n/a | n/a |
42 | CBX3 | chr22:21569776-21570074 | K562 | blood: | n/a | n/a |
43 | CBX3 | chr22:21622180-21622575 | K562 | blood: | n/a | n/a |
44 | CBX3 | chr22:21622085-21622620 | K562 | blood: | n/a | n/a |
45 | CEBPB | chr22:21586088-21586416 | K562 | blood: | n/a | n/a |
46 | CEBPD | chr22:21598907-21599379 | K562 | blood: | n/a | n/a |
47 | CEBPD | chr22:21619390-21619841 | K562 | blood: | n/a | n/a |
48 | CEBPD | chr22:21579036-21579644 | K562 | blood: | n/a | n/a |
49 | CTCF | chr22:21633785-21634153 | K562 | blood: | n/a | chr22:21633963-21633981 |
50 | CTCF | chr22:21581663-21581771 | Pancreas_OC | pancreas: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr22:21621725-21621775 | PFSK-1 | brain: | n/a |
2 | chr22:21567227-21567277 | ProgFib | skin: | n/a |
3 | chr22:21621725-21621775 | Jurkat | blood: | n/a |
4 | chr22:21618908-21618958 | HCF | heart: | n/a |
5 | chr22:21618908-21618958 | HCM | heart: | n/a |
6 | chr22:21618908-21618958 | NHBE | bronchial: | n/a |
7 | chr22:21567227-21567277 | K562 | blood: | n/a |
8 | chr22:21621725-21621775 | HL-60 | blood: | n/a |
9 | chr22:21618908-21618958 | LNCaP | prostate: | n/a |
10 | chr22:21621725-21621775 | PrEC | prostate: | n/a |
11 | chr22:21621725-21621775 | NHBE | bronchial: | n/a |
12 | chr22:21618908-21618958 | SAEC | small airway: | n/a |
13 | chr22:21567227-21567277 | GM12878 | blood: | n/a |
14 | chr22:21567227-21567277 | HepG2 | liver: | n/a |
15 | chr22:21618908-21618958 | GM06990 | blood: | n/a |
16 | chr22:21618908-21618958 | HIPEpiC | eye: | n/a |
17 | chr22:21621725-21621775 | HIPEpiC | eye: | n/a |
18 | chr22:21618908-21618958 | NH-A | brain: | n/a |
19 | chr22:21621725-21621775 | HEK293 | kidney: | embryo |
20 | chr22:21621725-21621775 | NH-A | brain: | n/a |
21 | chr22:21621725-21621775 | HCM | heart: | n/a |
22 | chr22:21618908-21618958 | HepG2 | liver: | n/a |
23 | chr22:21567227-21567277 | PFSK-1 | brain: | n/a |
24 | chr22:21567227-21567277 | HCM | heart: | n/a |
25 | chr22:21618908-21618958 | GM12892 | blood: | n/a |
26 | chr22:21618908-21618958 | ovcar-3 | ovarian: | n/a |
27 | chr22:21621725-21621775 | GM12891 | blood: | n/a |
28 | chr22:21621725-21621775 | HepG2 | liver: | n/a |
29 | chr22:21621725-21621775 | AG09319 | gingival: | n/a |
30 | chr22:21621725-21621775 | Hela-S3 | cervix: | n/a |
31 | chr22:21618908-21618958 | T-47D | breast: | n/a |
32 | chr22:21621725-21621775 | A549 | lung: | n/a |
33 | chr22:21567227-21567277 | HRE | kidney: | n/a |
34 | chr22:21567227-21567277 | Hepatocyte | liver: | n/a |
35 | chr22:21567227-21567277 | GM19239 | blood: | n/a |
36 | chr22:21621725-21621775 | ovcar-3 | ovarian: | n/a |
37 | chr22:21618908-21618958 | SK-N-SH | brain: | n/a |
38 | chr22:21618908-21618958 | Hela-S3 | cervix: | n/a |
39 | chr22:21618908-21618958 | HPAEpiC | pulmonary alveolar: | n/a |
40 | chr22:21621725-21621775 | HPAEpiC | pulmonary alveolar: | n/a |
41 | chr22:21618908-21618958 | HAEpiC | amniotic membrane: | n/a |
42 | chr22:21567227-21567277 | HCPEpiC | choroid plexus: | n/a |
43 | chr22:21618908-21618958 | HCT-116 | colon: | n/a |
44 | chr22:21567227-21567277 | IMR90 | lung: | fetal |
45 | chr22:21621725-21621775 | AG04450 | lung: | fetal |
46 | chr22:21567227-21567277 | AG04450 | lung: | fetal |
47 | chr22:21618908-21618958 | Hepatocyte | liver: | n/a |
48 | chr22:21567227-21567277 | MCF-7 | breast: | n/a |
49 | chr22:21567227-21567277 | HCT-116 | colon: | n/a |
50 | chr22:21618908-21618958 | AG04449 | skin: | fetal |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000226885 | TF binding region |
POM121L8P | TF binding region |
GGT2 | TF binding region |
ENSG00000226885 | CpG island |
POM121L8P | CpG island |
GGT2 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs372839086 | chr22:21566227-21566228 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs374834056 | chr22:21566274-21566275 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs367628610 | chr22:21566280-21566281 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs567037515 | chr22:21566428-21566429 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs538824108 | chr22:21566429-21566430 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs201373668 | chr22:21566545-21566546 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs552376374 | chr22:21566583-21566584 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs144694729 | chr22:21566597-21566598 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs569163698 | chr22:21566646-21566647 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs538160709 | chr22:21566653-21566654 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs554134945 | chr22:21566674-21566675 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs574398551 | chr22:21566702-21566703 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs112402677 | chr22:21566739-21566740 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs368578817 | chr22:21566861-21566862 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs142150538 | chr22:21566862-21566863 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs76920124 | chr22:21566897-21566898 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs79628241 | chr22:21566898-21566899 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs562681511 | chr22:21566918-21566919 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs576393052 | chr22:21566966-21566967 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs542189308 | chr22:21567153-21567154 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs202105890 | chr22:21567154-21567155 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs62241360 | chr22:21567200-21567201 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs372285563 | chr22:21567228-21567229 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs530071592 | chr22:21567259-21567260 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs375567951 | chr22:21567275-21567276 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs9614058 | chr22:21567591-21567592 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs9625860 | chr22:21567673-21567674 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs546989902 | chr22:21568084-21568085 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs560358216 | chr22:21568086-21568087 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs532644566 | chr22:21568105-21568106 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs552314876 | chr22:21568117-21568118 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs201450904 | chr22:21568204-21568205 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs187999128 | chr22:21568205-21568206 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs538146395 | chr22:21568213-21568214 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs548499938 | chr22:21568228-21568229 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs111910563 | chr22:21568234-21568235 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs568033641 | chr22:21568294-21568295 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs9614060 | chr22:21568349-21568350 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs554365135 | chr22:21568709-21568710 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs138934341 | chr22:21568711-21568712 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs533525366 | chr22:21568730-21568731 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs546464503 | chr22:21568808-21568809 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs556567729 | chr22:21568866-21568867 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs9614061 | chr22:21568941-21568942 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs371690295 | chr22:21568942-21568943 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs553731192 | chr22:21568945-21568946 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs369815281 | chr22:21568952-21568953 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs200987796 | chr22:21568957-21568958 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs201668534 | chr22:21568970-21568971 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs375024955 | chr22:21568990-21568991 | 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 | 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 |
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 |
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 |
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 |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Schizophrenia | 20967226 | CNVD |
Cognitive impairment | 21505072 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 19587683 | CNVD |
Gastrointestinal stromal cancer | 20877625 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr22:21566000-21569400 | Weak transcription | Right Atrium | heart |
2 | chr22:21569800-21590800 | Weak transcription | Gastric | stomach |
3 | chr22:21570200-21570800 | Enhancers | HMEC | breast |
4 | chr22:21570400-21570600 | Bivalent Enhancer | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
5 | chr22:21570400-21570800 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
6 | chr22:21570400-21570800 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
7 | chr22:21576000-21576200 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
8 | chr22:21576000-21576200 | Enhancers | Spleen | Spleen |
9 | chr22:21590600-21590800 | Enhancers | Stomach Mucosa | stomach |
10 | chr22:21590600-21591200 | Enhancers | Pancreas | Pancrea |
11 | chr22:21590800-21591000 | Enhancers | Gastric | stomach |
12 | chr22:21590800-21591800 | Weak transcription | Stomach Mucosa | stomach |
13 | chr22:21591000-21591800 | Weak transcription | Gastric | stomach |
14 | chr22:21591200-21591600 | Weak transcription | Pancreas | Pancrea |
15 | chr22:21591600-21592800 | Enhancers | Pancreas | Pancrea |
16 | chr22:21591800-21592000 | Enhancers | Duodenum Mucosa | Duodenum |
17 | chr22:21591800-21592200 | Enhancers | Fetal Intestine Large | intestine |
18 | chr22:21591800-21592200 | Enhancers | Fetal Intestine Small | intestine |
19 | chr22:21591800-21592200 | Enhancers | Gastric | stomach |
20 | chr22:21591800-21592200 | Enhancers | Stomach Mucosa | stomach |
21 | chr22:21591800-21592400 | Enhancers | HepG2 | liver |
22 | chr22:21592000-21592200 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
23 | chr22:21592000-21592200 | Flanking Active TSS | Duodenum Mucosa | Duodenum |
24 | chr22:21592200-21592400 | Enhancers | Duodenum Mucosa | Duodenum |
25 | chr22:21592400-21592800 | Active TSS | Duodenum Mucosa | Duodenum |
26 | chr22:21598600-21599000 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
27 | chr22:21604600-21605000 | Bivalent Enhancer | HepG2 | liver |
28 | chr22:21607400-21608600 | Enhancers | HepG2 | liver |
29 | chr22:21607800-21608200 | Enhancers | Fetal Intestine Small | intestine |
30 | chr22:21607800-21608600 | Enhancers | Fetal Intestine Large | intestine |
31 | chr22:21608400-21608600 | Enhancers | HSMMtube | muscle |
32 | chr22:21608600-21609800 | Weak transcription | Fetal Intestine Large | intestine |
33 | chr22:21608600-21609800 | Weak transcription | HepG2 | liver |
34 | chr22:21608600-21610400 | Weak transcription | HSMMtube | muscle |
35 | chr22:21609800-21610200 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
36 | chr22:21609800-21610600 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
37 | chr22:21609800-21610600 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
38 | chr22:21609800-21610600 | Enhancers | Hela-S3 | cervix |
39 | chr22:21609800-21611400 | Enhancers | HepG2 | liver |
40 | chr22:21610000-21610200 | Enhancers | Fetal Intestine Large | intestine |
41 | chr22:21610400-21611400 | Enhancers | HSMMtube | muscle |
42 | chr22:21610400-21611600 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |