Variant report
Variant | nsv1060271 |
---|---|
Chromosome Location | chr22:22805224-23255556 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:12229)
- CpG islands (count:3237)
- Chromatin interactive region (count:754)
- LncRNA region (count:49)
- Mature miRNA region (count: 3)
- miRNA target sites (count:8)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | ARID3A | chr22:23062845-23063144 | HepG2 | liver: | n/a | n/a |
2 | ARID3A | chr22:23008889-23009175 | K562 | blood: | n/a | n/a |
3 | ARID3A | chr22:22899261-22900164 | K562 | blood: | n/a | n/a |
4 | ARID3A | chr22:22818443-22818683 | HepG2 | liver: | n/a | n/a |
5 | ARID3A | chr22:22863051-22863422 | HepG2 | liver: | n/a | n/a |
6 | ARID3A | chr22:23226039-23226556 | K562 | blood: | n/a | n/a |
7 | ARID3A | chr22:22894947-22895370 | K562 | blood: | n/a | n/a |
8 | ARID3A | chr22:23062560-23063183 | K562 | blood: | n/a | n/a |
9 | ARID3A | chr22:22936496-22936877 | K562 | blood: | n/a | n/a |
10 | ARID3A | chr22:22873765-22876064 | K562 | blood: | n/a | n/a |
11 | ARID3A | chr22:23119431-23119566 | K562 | blood: | n/a | n/a |
12 | ARID3A | chr22:22815096-22815412 | K562 | blood: | n/a | n/a |
13 | ARID3A | chr22:22874015-22874868 | HepG2 | liver: | n/a | n/a |
14 | ARID3A | chr22:22921648-22921857 | K562 | blood: | n/a | n/a |
15 | ARID3A | chr22:23095901-23096393 | K562 | blood: | n/a | n/a |
16 | ARID3A | chr22:23232773-23233217 | K562 | blood: | n/a | n/a |
17 | ARID3A | chr22:23071123-23071265 | K562 | blood: | n/a | n/a |
18 | ARID3A | chr22:22871218-22871395 | K562 | blood: | n/a | n/a |
19 | ARID3A | chr22:22861960-22862639 | K562 | blood: | n/a | n/a |
20 | ARID3A | chr22:22815687-22815688 | K562 | blood: | n/a | n/a |
21 | ARID3A | chr22:23112680-23113069 | K562 | blood: | n/a | n/a |
22 | ARID3A | chr22:22829197-22829446 | HepG2 | liver: | n/a | n/a |
23 | ARID3A | chr22:22929379-22929733 | K562 | blood: | n/a | n/a |
24 | ARID3A | chr22:23035299-23035558 | K562 | blood: | n/a | n/a |
25 | ARID3A | chr22:23035867-23036079 | HepG2 | liver: | n/a | n/a |
26 | ARID3A | chr22:22901601-22901802 | HepG2 | liver: | n/a | n/a |
27 | ARID3A | chr22:22901376-22901941 | K562 | blood: | n/a | n/a |
28 | ARID3A | chr22:23030066-23030494 | K562 | blood: | n/a | n/a |
29 | ARID3A | chr22:23096142-23096349 | HepG2 | liver: | n/a | n/a |
30 | ARID3A | chr22:22862879-22863439 | K562 | blood: | n/a | n/a |
31 | ARID3A | chr22:23123576-23123779 | K562 | blood: | n/a | n/a |
32 | ARID3A | chr22:23052055-23052419 | K562 | blood: | n/a | n/a |
33 | ARID3A | chr22:23122421-23122441 | K562 | blood: | n/a | n/a |
34 | ARID3A | chr22:22918856-22919113 | K562 | blood: | n/a | n/a |
35 | ARID3A | chr22:23185588-23185620 | K562 | blood: | n/a | n/a |
36 | ARID3A | chr22:22958671-22958917 | K562 | blood: | n/a | n/a |
37 | ARID3A | chr22:22818370-22818848 | K562 | blood: | n/a | n/a |
38 | ARID3A | chr22:23088195-23088474 | K562 | blood: | n/a | n/a |
39 | ATF1 | chr22:23094264-23095307 | K562 | blood: | n/a | n/a |
40 | ATF1 | chr22:23202075-23202247 | K562 | blood: | n/a | n/a |
41 | ATF1 | chr22:23143924-23144313 | K562 | blood: | n/a | n/a |
42 | ATF1 | chr22:23210661-23211009 | K562 | blood: | n/a | n/a |
43 | ATF1 | chr22:23147092-23147291 | K562 | blood: | n/a | n/a |
44 | ATF1 | chr22:23125167-23125353 | K562 | blood: | n/a | n/a |
45 | ATF1 | chr22:23195676-23195779 | K562 | blood: | n/a | n/a |
46 | ATF1 | chr22:23254917-23254918 | K562 | blood: | n/a | n/a |
47 | ATF1 | chr22:22901371-22901967 | K562 | blood: | n/a | n/a |
48 | ATF1 | chr22:23065741-23065840 | K562 | blood: | n/a | n/a |
49 | ATF1 | chr22:23178289-23179177 | K562 | blood: | n/a | n/a |
50 | ATF1 | chr22:23125944-23126543 | K562 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr22:22987110-22987160 | Caco-2 | colon: | n/a |
2 | chr22:22901857-22901907 | NT2-D1 | testis: | n/a |
3 | chr22:22988617-22988667 | AoSMC | blood vessel: | n/a |
4 | chr22:22989254-22989304 | SK-N-MC | brain: | n/a |
5 | chr22:22987110-22987160 | Caco-2 | colon: | n/a |
6 | chr22:22901857-22901907 | NT2-D1 | testis: | n/a |
7 | chr22:22988617-22988667 | AoSMC | blood vessel: | n/a |
8 | chr22:22989254-22989304 | SK-N-MC | brain: | n/a |
9 | chr22:22863054-22863104 | SKMC | muscle: | n/a |
10 | chr22:22863655-22863705 | RPTEC | kidney: | n/a |
11 | chr22:22863054-22863104 | Hela-S3 | cervix: | n/a |
12 | chr22:22859162-22859212 | HRCEpiC | kidney: | n/a |
13 | chr22:22875030-22875080 | A549 | lung: | n/a |
14 | chr22:22987110-22987160 | PANC-1 | pancreas: | n/a |
15 | chr22:22875030-22875080 | HRE | kidney: | n/a |
16 | chr22:22987594-22987644 | GM12892 | blood: | n/a |
17 | chr22:22902198-22902248 | MCF-7 | breast: | n/a |
18 | chr22:22918718-22918768 | HEEpiC | esophagus: | n/a |
19 | chr22:22987126-22987176 | BE2_C | brain: | n/a |
20 | chr22:22864211-22864261 | HMEC | breast: | n/a |
21 | chr22:22863293-22863343 | ProgFib | skin: | n/a |
22 | chr22:22874590-22874640 | MCF-7 | breast: | n/a |
23 | chr22:22862802-22862852 | HCF | heart: | n/a |
24 | chr22:22901697-22901747 | ECC-1 | luminal epithelium: | n/a |
25 | chr22:22862884-22862934 | AG04449 | skin: | fetal |
26 | chr22:22864211-22864261 | SK-N-SH_RA | brain: | n/a |
27 | chr22:22839645-22839695 | AG09319 | gingival: | n/a |
28 | chr22:22901880-22901930 | AG10803 | skin: | n/a |
29 | chr22:22902198-22902248 | SAEC | small airway: | n/a |
30 | chr22:22901648-22901698 | BJ | skin: | n/a |
31 | chr22:22901569-22901619 | HMEC | breast: | n/a |
32 | chr22:22987110-22987160 | Hela-S3 | cervix: | n/a |
33 | chr22:22918718-22918768 | AoSMC | blood vessel: | n/a |
34 | chr22:22868585-22868635 | NHBE | bronchial: | n/a |
35 | chr22:22901145-22901195 | RPTEC | kidney: | n/a |
36 | chr22:22901697-22901747 | PFSK-1 | brain: | n/a |
37 | chr22:22901661-22901711 | PFSK-1 | brain: | n/a |
38 | chr22:22875038-22875088 | SK-N-SH_RA | brain: | n/a |
39 | chr22:22901661-22901711 | RPTEC | kidney: | n/a |
40 | chr22:22901145-22901195 | GM19239 | blood: | n/a |
41 | chr22:22899164-22899214 | AG04449 | skin: | fetal |
42 | chr22:22864211-22864261 | CMK | blood: | n/a |
43 | chr22:23003332-23003382 | HCPEpiC | choroid plexus: | n/a |
44 | chr22:22864211-22864261 | HepG2 | liver: | n/a |
45 | chr22:22983403-22983453 | IMR90 | lung: | fetal |
46 | chr22:22843648-22843698 | SAEC | small airway: | n/a |
47 | chr22:22989254-22989304 | AG04450 | lung: | fetal |
48 | chr22:22863655-22863705 | MCF10A-Er-Src | breast: | n/a |
49 | chr22:22863293-22863343 | HPAEpiC | pulmonary alveolar: | n/a |
50 | chr22:22862802-22862852 | T-47D | breast: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr22:23214687..23215524-chr22:23225845..23226401,2 | K562 | blood: | |
2 | chr22:23153953..23157348-chr22:23159325..23163829,7 | K562 | blood: | |
3 | chr22:23190239..23191191-chr22:23300316..23300864,2 | K562 | blood: | |
4 | chr22:23049285..23050242-chr22:23107821..23108351,2 | K562 | blood: | |
5 | chr22:22809469..22812282-chr22:23022479..23024471,2 | K562 | blood: | |
6 | chr22:23006079..23008156-chr22:23014891..23017069,2 | K562 | blood: | |
7 | chr22:23082377..23083071-chr22:23239318..23240169,2 | K562 | blood: | |
8 | chr22:22945262..22946963-chr22:22948240..22950461,2 | K562 | blood: | |
9 | chr22:22833041..22835699-chr22:22837620..22844125,7 | K562 | blood: | |
10 | chr22:22901204..22902181-chr22:22936191..22937061,2 | K562 | blood: | |
11 | chr22:23052869..23054350-chr22:23062184..23064503,9 | K562 | blood: | |
12 | chr22:23035118..23035959-chr22:23051887..23052451,4 | K562 | blood: | |
13 | chr22:23146953..23149689-chr22:23184394..23186463,2 | K562 | blood: | |
14 | chr22:23111992..23113027-chr22:23219351..23220440,4 | K562 | blood: | |
15 | chr22:22899832..22902524-chr22:23054881..23057157,2 | K562 | blood: | |
16 | chr22:23034335..23037149-chr22:23042123..23043808,2 | K562 | blood: | |
17 | chr22:23095780..23096787-chr22:23297638..23298767,10 | K562 | blood: | |
18 | chr22:22939142..22942340-chr22:23059159..23062828,3 | K562 | blood: | |
19 | chr22:23016577..23018981-chr22:23022103..23026913,4 | K562 | blood: | |
20 | chr22:23101050..23103638-chr22:23106231..23108619,2 | K562 | blood: | |
21 | chr22:22776723..22777608-chr22:23219224..23219850,2 | K562 | blood: | |
22 | chr22:23053224..23053871-chr22:23297844..23298702,2 | K562 | blood: | |
23 | chr22:23112339..23113246-chr22:23300723..23301542,2 | K562 | blood: | |
24 | chr22:22818125..22818946-chr22:22894855..22895468,2 | MCF-7 | breast: | |
25 | chr22:22818017..22819055-chr22:23029804..23030759,3 | K562 | blood: | |
26 | chr22:23197138..23198637-chr22:23470221..23471277,8 | K562 | blood: | |
27 | chr22:23067294..23069392-chr22:23071816..23073739,2 | MCF-7 | breast: | |
28 | chr22:22786214..22787762-chr22:22891679..22893428,2 | K562 | blood: | |
29 | chr22:23190107..23190797-chr22:23299359..23300293,2 | K562 | blood: | |
30 | chr22:23062281..23063095-chr22:23088193..23088767,2 | K562 | blood: | |
31 | chr22:23049724..23050322-chr22:23112347..23112891,3 | K562 | blood: | |
32 | chr22:23130059..23131366-chr22:23152103..23153385,6 | K562 | blood: | |
33 | chr22:22004774..22007479-chr22:22898413..22901210,2 | K562 | blood: | |
34 | chr22:23075099..23076897-chr22:23080290..23082863,2 | K562 | blood: | |
35 | chr22:23052837..23053427-chr22:23110175..23111081,2 | K562 | blood: | |
36 | chr14:100751337..100751890-chr22:22977708..22978208,2 | MCF-7 | breast: | |
37 | chr22:23143333..23145097-chr22:23222921..23225680,2 | K562 | blood: | |
38 | chr22:23130386..23131888-chr22:23225842..23226929,13 | K562 | blood: | |
39 | chr13:91998254..92001076-chr22:22898499..22901171,2 | K562 | blood: | |
40 | chr22:23226023..23226801-chr22:23284702..23285609,3 | MCF-7 | breast: | |
41 | chr22:23051733..23052436-chr22:23107974..23108852,3 | K562 | blood: | |
42 | chr22:23130644..23132267-chr22:23201558..23203139,2 | K562 | blood: | |
43 | chr22:22823832..22826164-chr22:22828089..22830611,2 | K562 | blood: | |
44 | chr22:22821760..22823329-chr22:22824941..22826903,2 | K562 | blood: | |
45 | chr22:23011183..23015794-chr22:23016592..23020508,5 | K562 | blood: | |
46 | chr22:23175286..23177452-chr22:23191943..23195481,3 | K562 | blood: | |
47 | chr22:22818099..22819038-chr22:23090338..23091223,4 | K562 | blood: | |
48 | chr22:23095751..23096677-chr22:23284775..23285721,4 | K562 | blood: | |
49 | chr22:23108876..23110628-chr22:23461887..23463461,2 | K562 | blood: | |
50 | chr22:22786006..22786528-chr22:22918919..22919854,2 | K562 | blood: |
(count:49 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-POM121L1P-1 | chr22:23035263-23035547 | ENSG00000223999 |
2 | lnc-GGTLC2-5 | chr22:22961376-22961633 | NONHSAT083792 |
3 | lnc-GGTLC2-4 | chr22:23015622-23015679 | NONHSAT083804 |
4 | lnc-IGLL5-5 | chr22:23180779-23181049 | NONHSAT083827 |
5 | lnc-POM121L1P-5 | chr22:23164245-23164726 | refGeneNc_260_NR_028483 |
6 | lnc-POM121L1P-1 | chr22:23035462-23035547 | NONHSAT083808 |
7 | lnc-D87017.1-3 | chr22:23252998-23253245 | NONHSAT083835 |
8 | lnc-POM121L1P-5 | chr22:23167960-23168108 | refGeneNc_260_NR_028483 |
9 | lnc-GGTLC2-7 | chr22:23043245-23043455 | NONHSAT083812 |
10 | lnc-LL22NC03-63E9.3.1-2 | chr22:22922478-22922760 | NONHSAT083790 |
11 | lnc-POM121L1P-1 | chr22:23035358-23035378 | NONHSAT083808 |
12 | lnc-POM121L1P-1 | chr22:23045437-23045463 | NONHSAT083810 |
13 | lnc-IGLL5-7 | chr22:23157168-23157423 | NONHSAT083824 |
14 | lnc-POM121L1P-3 | chr22:23048732-23048890 | NONHSAT083813 |
15 | lnc-RTDR1-6 | chr22:23220011-23220059 | NONHSAT083832 |
16 | lnc-LL22NC03-63E9.3.1-5 | chr22:22819996-22820323 | NONHSAT083787 |
17 | lnc-POM121L1P-1 | chr22:23038799-23038911 | NONHSAT083808 |
18 | lnc-POM121L1P-1 | chr22:23035632-23035916 | NONHSAT083808 |
19 | lnc-POM121L1P-1 | chr22:23038579-23038911 | NONHSAT083810 |
20 | lnc-POM121L1P-5 | chr22:23200951-23201121 | refGeneNc_260_NR_028483 |
21 | lnc-GGTLC2-3 | chr22:23007120-23007377 | NONHSAT083803 |
22 | lnc-POM121L1P-3 | chr22:23053951-23054068 | NONHSAT083813 |
23 | lnc-RTDR1-4 | chr22:23243491-23243570 | NONHSAT083834 |
24 | lnc-GGTLC2-10 | chr22:23104787-23105009 | NONHSAT083819 |
25 | lnc-GGTLC2-4 | chr22:23015829-23016072 | NONHSAT083804 |
26 | lnc-RTDR1-4 | chr22:23243305-23243327 | NONHSAT083834 |
27 | lnc-RTDR1-1 | chr22:23248506-23248831 | NONHSAT083775 |
28 | lnc-POM121L1P-5 | chr22:23186421-23186739 | refGeneNc_260_NR_028483 |
29 | lnc-IGLL5-4 | chr22:23192550-23192799 | NONHSAT083828 |
30 | lnc-POM121L1P-1 | chr22:23045057-23045160 | NONHSAT083808 |
31 | lnc-POM121L1P-5 | chr22:23220658-23220783 | refGeneNc_260_NR_028483 |
32 | lnc-RTDR1-4 | chr22:23242926-23243073 | NONHSAT083834 |
33 | lnc-GGTLC2-8 | chr22:23081432-23081675 | NONHSAT083816 |
34 | lnc-LL22NC03-63E9.3.1-1 | chr22:22906072-22909007 | NR_027426 |
35 | lnc-POM121L1P-5 | chr22:23197736-23197863 | refGeneNc_260_NR_028483 |
36 | lnc-GGTLC2-3 | chr22:23006943-23006988 | NONHSAT083803 |
37 | lnc-POM121L1P-5 | chr22:23178179-23178296 | refGeneNc_260_NR_028483 |
38 | lnc-RTDR1-6 | chr22:23221233-23221684 | NONHSAT083832 |
39 | lnc-GGTLC2-6 | chr22:23021570-23021818 | NONHSAT083805 |
40 | lnc-GGTLC2-5 | chr22:22961042-22961081 | NONHSAT083792 |
41 | lnc-POM121L1P-1 | chr22:23045057-23045160 | NONHSAT083810 |
42 | lnc-POM121L1P-5 | chr22:23165262-23165535 | refGeneNc_260_NR_028483 |
43 | lnc-LL22NC03-63E9.3.1-1 | chr22:22901756-22901814 | NR_027426 |
44 | lnc-POM121L1P-4 | chr22:23155178-23156344 | ucscGeneNc_uc002zzz_1 |
45 | lnc-GGTLC2-9 | chr22:23098043-23098286 | NONHSAT083817 |
46 | lnc-LL22NC03-63E9.3.1-1 | chr22:22905268-22905377 | NR_027426 |
47 | lnc-POM121L1P-1 | chr22:23035632-23035797 | ENSG00000223999 |
48 | lnc-LL22NC03-63E9.3.1-4 | chr22:22828865-22829110 | expReg_chr22_1075_+ |
49 | lnc-POM121L1P-1 | chr22:23045437-23045463 | NONHSAT083808 |
miRNA name | Chromosome Location | mirBase accession |
---|---|---|
hsa-miR-5571-3p | chr22:23228511-23228529 | MIMAT0022258 |
hsa-miR-650 | chr22:23165285-23165305 | MIMAT0003320 |
hsa-miR-5571-5p | chr22:23228471-23228491 | MIMAT0022257 |
(count:8 , 50 per page) page:
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No. | miRNA target gene | miRNA name | Chromosome Location | mirBase accession |
---|---|---|---|---|
1 | ZNF280B | hsa-let-7d-5p | chr22:22839482-22839476 | |
2 | ZNF280B | hsa-let-7f-5p | chr22:22838970-22838990 | |
3 | ZNF280B | hsa-let-7f-5p | chr22:22839301-22839294 | |
4 | ZNF280B | hsa-let-7f-5p | chr22:22839295-22839316 | |
5 | ZNF280B | hsa-let-7d-5p | chr22:22839295-22839316 | |
6 | ZNF280B | hsa-let-7f-5p | chr22:22839482-22839476 | |
7 | ZNF280B | hsa-let-7d-5p | chr22:22839301-22839294 | |
8 | ZNF280B | hsa-let-7d-5p | chr22:22838970-22838991 |
Variant related genes | Relation type |
---|---|
ENSG00000264824 | TF binding region |
IGLV3-7 | TF binding region |
ENSG00000207832 | TF binding region |
IGLV4-3 | TF binding region |
IGLJ5 | TF binding region |
ZNF280B | TF binding region |
ENSG00000220891 | TF binding region |
IGLV3-32 | TF binding region |
IGLV3-13 | TF binding region |
ENSG00000232350 | TF binding region |
IGLC1 | TF binding region |
IGLV2-5 | TF binding region |
IGLV2-18 | TF binding region |
IGLV3-17 | TF binding region |
IGLJ6 | TF binding region |
IGLV3-31 | TF binding region |
IGLVVI-22-1 | TF binding region |
BCRP4 | TF binding region |
ENSG00000207830 | TF binding region |
IGLV3-12 | TF binding region |
IGLV3-25 | TF binding region |
ENSG00000207835 | TF binding region |
IGLJ2 | TF binding region |
ENSG00000207834 | TF binding region |
IGLV3-15 | TF binding region |
IGLV3-26 | TF binding region |
IGLV3-19 | TF binding region |
ENSG00000223999 | TF binding region |
IGLV3-22 | TF binding region |
IGLV3-27 | TF binding region |
IGLV2-14 | TF binding region |
PRAME | TF binding region |
IGLVI-20 | TF binding region |
ZNF280A | TF binding region |
IGLJ1 | TF binding region |
IGLV2-33 | TF binding region |
ENSG00000207833 | TF binding region |
MIR650 | TF binding region |
ENSG00000226477 | TF binding region |
IGLV3-2 | TF binding region |
IGLV2-34 | TF binding region |
IGLV3-4 | TF binding region |
ENSG00000237127 | TF binding region |
IGLV3-6 | TF binding region |
IGLV3-16 | TF binding region |
ENSG00000264629 | TF binding region |
IGLJ4 | TF binding region |
IGLC4 | TF binding region |
ENSG00000231392 | TF binding region |
IGLV2-23 | TF binding region |
IGLV3-30 | TF binding region |
POM121L1P | TF binding region |
ENSG00000226595 | TF binding region |
IGLV2-8 | TF binding region |
IGLC5 | TF binding region |
IGLV2-28 | TF binding region |
IGLV3-10 | TF binding region |
IGLV2-11 | TF binding region |
ENSG00000239066 | TF binding region |
IGLVVI-25-1 | TF binding region |
IGLL5 | TF binding region |
IGLJ3 | TF binding region |
IGLV3-24 | TF binding region |
GGTLC2 | TF binding region |
IGLC3 | TF binding region |
IGLV3-9 | TF binding region |
IGLV3-1 | TF binding region |
IGLV3-21 | TF binding region |
IGLV3-29 | TF binding region |
IGLC2 | TF binding region |
ENSG00000264824 | CpG island |
IGLV3-7 | CpG island |
ENSG00000207832 | CpG island |
IGLV4-3 | CpG island |
IGLJ5 | CpG island |
ZNF280B | CpG island |
ENSG00000220891 | CpG island |
IGLV3-32 | CpG island |
IGLV3-13 | CpG island |
ENSG00000232350 | CpG island |
IGLC1 | CpG island |
IGLV2-5 | CpG island |
IGLV2-18 | CpG island |
IGLV3-17 | CpG island |
IGLJ6 | CpG island |
IGLV3-31 | CpG island |
IGLVVI-22-1 | CpG island |
BCRP4 | CpG island |
ENSG00000207830 | CpG island |
IGLV3-12 | CpG island |
IGLV3-25 | CpG island |
ENSG00000207835 | CpG island |
IGLJ2 | CpG island |
ENSG00000207834 | CpG island |
IGLV3-15 | CpG island |
IGLV3-26 | CpG island |
IGLV3-19 | CpG island |
ENSG00000223999 | CpG island |
IGLV3-22 | CpG island |
IGLV3-27 | CpG island |
IGLV2-14 | CpG island |
PRAME | CpG island |
IGLVI-20 | CpG island |
ZNF280A | CpG island |
IGLJ1 | CpG island |
IGLV2-33 | CpG island |
ENSG00000207833 | CpG island |
MIR650 | CpG island |
ENSG00000226477 | CpG island |
IGLV3-2 | CpG island |
IGLV2-34 | CpG island |
IGLV3-4 | CpG island |
ENSG00000237127 | CpG island |
IGLV3-6 | CpG island |
IGLV3-16 | CpG island |
ENSG00000264629 | CpG island |
IGLJ4 | CpG island |
IGLC4 | CpG island |
ENSG00000231392 | CpG island |
IGLV2-23 | CpG island |
IGLV3-30 | CpG island |
POM121L1P | CpG island |
ENSG00000226595 | CpG island |
IGLV2-8 | CpG island |
IGLC5 | CpG island |
IGLV2-28 | CpG island |
IGLV3-10 | CpG island |
IGLV2-11 | CpG island |
ENSG00000239066 | CpG island |
IGLVVI-25-1 | CpG island |
IGLL5 | CpG island |
IGLJ3 | CpG island |
IGLV3-24 | CpG island |
GGTLC2 | CpG island |
IGLC3 | CpG island |
IGLV3-9 | CpG island |
IGLV3-1 | CpG island |
IGLV3-21 | CpG island |
IGLV3-29 | CpG island |
IGLC2 | CpG island |
ENSG00000253920 | chromatin interactions |
ENSG00000224144 | chromatin interactions |
ENSG00000124635 | chromatin interactions |
ENSG00000207830 | chromatin interactions |
ENSG00000211657 | chromatin interactions |
ENSG00000169548 | chromatin interactions |
ENSG00000211641 | chromatin interactions |
ENSG00000253448 | chromatin interactions |
ENSG00000211659 | chromatin interactions |
ENSG00000253913 | chromatin interactions |
ENSG00000253234 | chromatin interactions |
ENSG00000253546 | chromatin interactions |
ENSG00000212102 | chromatin interactions |
ENSG00000211681 | chromatin interactions |
ENSG00000253963 | chromatin interactions |
ENSG00000211661 | chromatin interactions |
ENSG00000253329 | chromatin interactions |
ENSG00000128228 | chromatin interactions |
ENSG00000211679 | chromatin interactions |
ENSG00000211666 | chromatin interactions |
ENSG00000232603 | chromatin interactions |
ENSG00000177675 | chromatin interactions |
ENSG00000207835 | chromatin interactions |
ENSG00000211662 | chromatin interactions |
ENSG00000215417 | chromatin interactions |
ENSG00000211648 | chromatin interactions |
ENSG00000100023 | chromatin interactions |
ENSG00000196787 | chromatin interactions |
ENSG00000211678 | chromatin interactions |
ENSG00000211663 | chromatin interactions |
ENSG00000254030 | chromatin interactions |
ENSG00000226420 | chromatin interactions |
ENSG00000211670 | chromatin interactions |
ENSG00000100218 | chromatin interactions |
ENSG00000264629 | chromatin interactions |
ENSG00000187556 | chromatin interactions |
ENSG00000211674 | chromatin interactions |
ENSG00000230821 | chromatin interactions |
ENSG00000168288 | chromatin interactions |
ENSG00000231969 | chromatin interactions |
ENSG00000100038 | chromatin interactions |
ENSG00000254077 | chromatin interactions |
ENSG00000223350 | chromatin interactions |
ENSG00000211669 | chromatin interactions |
ENSG00000254029 | chromatin interactions |
ENSG00000207836 | chromatin interactions |
ENSG00000231392 | chromatin interactions |
ENSG00000222037 | chromatin interactions |
ENSG00000211658 | chromatin interactions |
ENSG00000211673 | chromatin interactions |
ENSG00000100027 | chromatin interactions |
ENSG00000211684 | chromatin interactions |
ENSG00000253152 | chromatin interactions |
ENSG00000223999 | chromatin interactions |
ENSG00000261135 | chromatin interactions |
ENSG00000226477 | chromatin interactions |
ENSG00000211656 | chromatin interactions |
ENSG00000126883 | chromatin interactions |
ENSG00000211665 | chromatin interactions |
ENSG00000211653 | chromatin interactions |
ENSG00000252622 | chromatin interactions |
ENSG00000253889 | chromatin interactions |
ENSG00000215456 | chromatin interactions |
ENSG00000211680 | chromatin interactions |
ENSG00000211675 | chromatin interactions |
ENSG00000211677 | chromatin interactions |
ENSG00000211682 | chromatin interactions |
ENSG00000211672 | chromatin interactions |
ENSG00000232350 | chromatin interactions |
ENSG00000211685 | chromatin interactions |
ENSG00000253779 | chromatin interactions |
ENSG00000211676 | chromatin interactions |
ENSG00000220891 | chromatin interactions |
ENSG00000211667 | chromatin interactions |
ENSG00000211664 | chromatin interactions |
ENSG00000211649 | chromatin interactions |
ENSG00000273342 | chromatin interactions |
ENSG00000253338 | chromatin interactions |
ENSG00000211655 | chromatin interactions |
ENSG00000253822 | chromatin interactions |
ENSG00000211671 | chromatin interactions |
ENSG00000264824 | chromatin interactions |
ENSG00000254709 | chromatin interactions |
ENSG00000198477 | chromatin interactions |
ENSG00000207832 | chromatin interactions |
ENSG00000186716 | chromatin interactions |
ENSG00000253786 | chromatin interactions |
ENSG00000234741 | chromatin interactions |
ENSG00000206652 | chromatin interactions |
ENSG00000226595 | chromatin interactions |
ENSG00000253631 | chromatin interactions |
ENSG00000207834 | chromatin interactions |
ENSG00000207751 | chromatin interactions |
ENSG00000254240 | chromatin interactions |
ENSG00000236794 | chromatin interactions |
ENSG00000100034 | chromatin interactions |
ENSG00000237127 | chromatin interactions |
ENSG00000100030 | chromatin interactions |
ENSG00000211660 | chromatin interactions |
ENSG00000100228 | chromatin interactions |
ENSG00000253451 | chromatin interactions |
ENSG00000185686 | chromatin interactions |
ENSG00000253590 | chromatin interactions |
ING4 | Mature miRNA region |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs533934118 | chr22:22805231-22805232 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs531404593 | chr22:22805289-22805290 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs548282133 | chr22:22805311-22805312 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs561701261 | chr22:22805377-22805378 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs527268151 | chr22:22805390-22805391 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs186948501 | chr22:22805405-22805406 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs570677557 | chr22:22805535-22805536 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs370862701 | chr22:22805584-22805585 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs539274040 | chr22:22805602-22805603 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs76072968 | chr22:22805639-22805640 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs569493023 | chr22:22805667-22805668 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs200493077 | chr22:22805749-22805750 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs141149802 | chr22:22805781-22805782 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs547257128 | chr22:22805875-22805876 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs574541847 | chr22:22805876-22805877 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs55744528 | chr22:22805889-22805890 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
17 | rs554179683 | chr22:22805898-22805899 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs117207806 | chr22:22805912-22805913 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs541684488 | chr22:22805956-22805957 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs112539155 | chr22:22805961-22805962 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs576692362 | chr22:22805991-22805992 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs558390744 | chr22:22806048-22806049 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs541986911 | chr22:22806061-22806062 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs116202612 | chr22:22806120-22806121 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs11912283 | chr22:22806154-22806155 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
26 | rs555089992 | chr22:22806246-22806247 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs146191625 | chr22:22806285-22806286 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs557632769 | chr22:22806291-22806292 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs11912306 | chr22:22806295-22806296 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs386819935 | chr22:22806399-22806400 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs56381885 | chr22:22806401-22806402 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs57341648 | chr22:22806405-22806406 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
33 | rs535269781 | chr22:22806438-22806439 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs192042276 | chr22:22806444-22806445 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs548281486 | chr22:22806456-22806457 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs80001605 | chr22:22806578-22806579 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs118071769 | chr22:22806603-22806604 | Bivalent Enhancer Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs189970962 | chr22:22806636-22806637 | Bivalent Enhancer Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs554106711 | chr22:22806641-22806642 | Bivalent Enhancer Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs563665180 | chr22:22806642-22806643 | Bivalent Enhancer Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs182654405 | chr22:22806656-22806657 | Bivalent Enhancer Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs1894241 | chr22:22806673-22806674 | Bivalent Enhancer Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
43 | rs372257842 | chr22:22806678-22806679 | Bivalent Enhancer Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs556885865 | chr22:22806695-22806696 | Bivalent Enhancer Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs576756101 | chr22:22806729-22806730 | Bivalent Enhancer Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs137927236 | chr22:22806747-22806748 | Bivalent Enhancer Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs555510430 | chr22:22806761-22806762 | Bivalent Enhancer Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs572081207 | chr22:22806778-22806779 | Bivalent Enhancer Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs540748035 | chr22:22806785-22806786 | Bivalent Enhancer Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs1894242 | chr22:22806795-22806796 | Bivalent Enhancer Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | 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 |
Prostate cancer | 18632612 | 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 |
Developmental delay | 21147756 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | 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 |
Urothelial carcinoma | 21177765 | CNVD |
Chronic myeloid leukemia | 21384125 | CNVD |
Autism | 20841430 | CNVD |
Cancer | 20164919 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Breast cancer | 21785460 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Medullary thyroid carcinoma | 18765511 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 22522925 | CNVD |
Barrett''s syndrome | 19417022 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Ependymoma | 20639864 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Schizophrenia | 17989066 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr22:22803600-22806600 | Enhancers | Primary B cells from cord blood | blood |
2 | chr22:22803600-22807000 | Enhancers | Primary B cells from peripheral blood | blood |
3 | chr22:22804200-22805400 | Enhancers | GM12878-XiMat | blood |
4 | chr22:22804600-22805400 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
5 | chr22:22804800-22805400 | Enhancers | Primary monocytes fromperipheralblood | blood |
6 | chr22:22804800-22805400 | Enhancers | Monocytes-CD14+_RO01746 | blood |
7 | chr22:22805200-22807200 | Weak transcription | Right Atrium | heart |
8 | chr22:22806600-22806800 | Bivalent Enhancer | H1 Cell Line | embryonic stem cell |
9 | chr22:22809000-22809200 | Bivalent Enhancer | H1 Cell Line | embryonic stem cell |
10 | chr22:22812800-22813000 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
11 | chr22:22813400-22814400 | ZNF genes & repeats | Right Atrium | heart |
12 | chr22:22813600-22815000 | ZNF genes & repeats | Pancreatic Islets | Pancreatic Islet |
13 | chr22:22814000-22814200 | Bivalent Enhancer | H1 Cell Line | embryonic stem cell |
14 | chr22:22814400-22814600 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
15 | chr22:22815800-22832800 | Weak transcription | Right Atrium | heart |
16 | chr22:22817000-22818800 | Enhancers | Primary B cells from cord blood | blood |
17 | chr22:22817200-22818800 | Enhancers | Primary B cells from peripheral blood | blood |
18 | chr22:22817800-22818400 | Bivalent Enhancer | Primary hematopoietic stem cells | blood |
19 | chr22:22818000-22818200 | Bivalent Enhancer | H1 Cell Line | embryonic stem cell |
20 | chr22:22818000-22818600 | Bivalent Enhancer | Primary T cells fromperipheralblood | blood |
21 | chr22:22818200-22818400 | Bivalent Enhancer | Primary T helper memory cells from peripheral blood 1 | blood |
22 | chr22:22818200-22818400 | Bivalent Enhancer | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
23 | chr22:22818200-22818400 | Bivalent Enhancer | Cortex derived primary cultured neurospheres | brain |
24 | chr22:22818200-22818600 | Bivalent Enhancer | Primary T helper cells PMA-I stimulated | -- |
25 | chr22:22818200-22818600 | Bivalent Enhancer | Fetal Brain Female | brain |
26 | chr22:22818200-22818600 | Enhancers | HSMMtube | muscle |
27 | chr22:22818200-22818800 | Enhancers | Brain Anterior Caudate | brain |
28 | chr22:22818400-22818600 | Bivalent Enhancer | Primary T helper cells fromperipheralblood | blood |
29 | chr22:22818600-22818800 | Bivalent Enhancer | iPS-15b Cell Line | embryonic stem cell |
30 | chr22:22818600-22818800 | Flanking Active TSS | A549 | lung |
31 | chr22:22818600-22818800 | Flanking Active TSS | HSMMtube | muscle |
32 | chr22:22818600-22819000 | Bivalent Enhancer | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
33 | chr22:22818600-22819000 | Bivalent Enhancer | HSMM | muscle |
34 | chr22:22818600-22819000 | Flanking Bivalent TSS/Enh | K562 | blood |
35 | chr22:22818800-22819000 | Bivalent Enhancer | H1 Cell Line | embryonic stem cell |
36 | chr22:22818800-22819000 | Bivalent/Poised TSS | A549 | lung |
37 | chr22:22819000-22819200 | Bivalent Enhancer | K562 | blood |
38 | chr22:22819600-22819800 | Enhancers | Brain Germinal Matrix | brain |
39 | chr22:22823800-22824600 | ZNF genes & repeats | K562 | blood |
40 | chr22:22828800-22829000 | Enhancers | HepG2 | liver |
41 | chr22:22828800-22829400 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
42 | chr22:22828800-22829400 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
43 | chr22:22828800-22829400 | Enhancers | Fetal Intestine Large | intestine |
44 | chr22:22828800-22829600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
45 | chr22:22829000-22829200 | Bivalent Enhancer | iPS-18 Cell Line | embryonic stem cell |
46 | chr22:22829000-22829200 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
47 | chr22:22829000-22829400 | Bivalent Enhancer | H1 Cell Line | embryonic stem cell |
48 | chr22:22829000-22829400 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
49 | chr22:22829000-22829400 | Enhancers | H9 Cell Line | embryonic stem cell |
50 | chr22:22829000-22829400 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |