Variant report
Variant | esv2755225 |
---|---|
Chromosome Location | chr22:22839424-23260507 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:11507)
- CpG islands (count:3235)
- Chromatin interactive region (count:691)
- LncRNA region (count:48)
- Mature miRNA region (count: 3)
- miRNA target sites (count:2)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | ARID3A | chr22:22862879-22863439 | K562 | blood: | n/a | n/a |
2 | ARID3A | chr22:22936496-22936877 | K562 | blood: | n/a | n/a |
3 | ARID3A | chr22:23062845-23063144 | HepG2 | liver: | n/a | n/a |
4 | ARID3A | chr22:22861960-22862639 | K562 | blood: | n/a | n/a |
5 | ARID3A | chr22:23119431-23119566 | K562 | blood: | n/a | n/a |
6 | ARID3A | chr22:22921648-22921857 | K562 | blood: | n/a | n/a |
7 | ARID3A | chr22:23030066-23030494 | K562 | blood: | n/a | n/a |
8 | ARID3A | chr22:23035299-23035558 | K562 | blood: | n/a | n/a |
9 | ARID3A | chr22:23052055-23052419 | K562 | blood: | n/a | n/a |
10 | ARID3A | chr22:22918856-22919113 | K562 | blood: | n/a | n/a |
11 | ARID3A | chr22:22958671-22958917 | K562 | blood: | n/a | n/a |
12 | ARID3A | chr22:23088195-23088474 | K562 | blood: | n/a | n/a |
13 | ARID3A | chr22:23226039-23226556 | K562 | blood: | n/a | n/a |
14 | ARID3A | chr22:22871218-22871395 | K562 | blood: | n/a | n/a |
15 | ARID3A | chr22:22863051-22863422 | HepG2 | liver: | n/a | n/a |
16 | ARID3A | chr22:22901601-22901802 | HepG2 | liver: | n/a | n/a |
17 | ARID3A | chr22:23258750-23259076 | HepG2 | liver: | n/a | n/a |
18 | ARID3A | chr22:23035867-23036079 | HepG2 | liver: | n/a | n/a |
19 | ARID3A | chr22:22873765-22876064 | K562 | blood: | n/a | n/a |
20 | ARID3A | chr22:22874015-22874868 | HepG2 | liver: | n/a | n/a |
21 | ARID3A | chr22:23008889-23009175 | K562 | blood: | n/a | n/a |
22 | ARID3A | chr22:22899261-22900164 | K562 | blood: | n/a | n/a |
23 | ARID3A | chr22:23095901-23096393 | K562 | blood: | n/a | n/a |
24 | ARID3A | chr22:23122421-23122441 | K562 | blood: | n/a | n/a |
25 | ARID3A | chr22:23232773-23233217 | K562 | blood: | n/a | n/a |
26 | ARID3A | chr22:23123576-23123779 | K562 | blood: | n/a | n/a |
27 | ARID3A | chr22:22894947-22895370 | K562 | blood: | n/a | n/a |
28 | ARID3A | chr22:22901376-22901941 | K562 | blood: | n/a | n/a |
29 | ARID3A | chr22:23112680-23113069 | K562 | blood: | n/a | n/a |
30 | ARID3A | chr22:23071123-23071265 | K562 | blood: | n/a | n/a |
31 | ARID3A | chr22:23062560-23063183 | K562 | blood: | n/a | n/a |
32 | ARID3A | chr22:22929379-22929733 | K562 | blood: | n/a | n/a |
33 | ARID3A | chr22:23185588-23185620 | K562 | blood: | n/a | n/a |
34 | ARID3A | chr22:23096142-23096349 | HepG2 | liver: | n/a | n/a |
35 | ATF1 | chr22:23000019-23000588 | K562 | blood: | n/a | n/a |
36 | ATF1 | chr22:23049106-23049877 | K562 | blood: | n/a | n/a |
37 | ATF1 | chr22:23096027-23096489 | K562 | blood: | n/a | n/a |
38 | ATF1 | chr22:22936454-22936875 | K562 | blood: | n/a | n/a |
39 | ATF1 | chr22:23208195-23208865 | K562 | blood: | n/a | n/a |
40 | ATF1 | chr22:23178289-23179177 | K562 | blood: | n/a | n/a |
41 | ATF1 | chr22:22843196-22843205 | K562 | blood: | n/a | n/a |
42 | ATF1 | chr22:23030085-23030856 | K562 | blood: | n/a | n/a |
43 | ATF1 | chr22:23008729-23009343 | K562 | blood: | n/a | n/a |
44 | ATF1 | chr22:23166948-23167148 | K562 | blood: | n/a | n/a |
45 | ATF1 | chr22:23015158-23015294 | K562 | blood: | n/a | n/a |
46 | ATF1 | chr22:22901371-22901967 | K562 | blood: | n/a | n/a |
47 | ATF1 | chr22:23147092-23147291 | K562 | blood: | n/a | n/a |
48 | ATF1 | chr22:23050906-23051024 | K562 | blood: | n/a | n/a |
49 | ATF1 | chr22:23107124-23107149 | K562 | blood: | n/a | n/a |
50 | ATF1 | chr22:23081384-23081390 | K562 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr22:22901857-22901907 | IMR90 | lung: | fetal |
2 | chr22:22859162-22859212 | CMK | blood: | n/a |
3 | chr22:22901857-22901907 | IMR90 | lung: | fetal |
4 | chr22:22859162-22859212 | CMK | blood: | n/a |
5 | chr22:22989254-22989304 | GM06990 | blood: | n/a |
6 | chr22:22863663-22863713 | NHBE | bronchial: | n/a |
7 | chr22:22983403-22983453 | SAEC | small airway: | n/a |
8 | chr22:22987594-22987644 | H1-hESC | embryonic stem cell: | embryo |
9 | chr22:22901145-22901195 | NT2-D1 | testis: | n/a |
10 | chr22:22987124-22987174 | AG09309 | skin: | n/a |
11 | chr22:22874447-22874497 | Jurkat | blood: | n/a |
12 | chr22:22868585-22868635 | RPTEC | kidney: | n/a |
13 | chr22:22874677-22874727 | AoSMC | blood vessel: | n/a |
14 | chr22:22868585-22868635 | H1-hESC | embryonic stem cell: | embryo |
15 | chr22:22862144-22862194 | ProgFib | skin: | n/a |
16 | chr22:22863655-22863705 | HEEpiC | esophagus: | n/a |
17 | chr22:22862479-22862529 | HIPEpiC | eye: | n/a |
18 | chr22:22902198-22902248 | Hepatocyte | liver: | n/a |
19 | chr22:22874677-22874727 | HCPEpiC | choroid plexus: | n/a |
20 | chr22:22863054-22863104 | HL-60 | blood: | n/a |
21 | chr22:22989254-22989304 | GM12892 | blood: | n/a |
22 | chr22:22986667-22986717 | SAEC | small airway: | n/a |
23 | chr22:22874677-22874727 | GM19239 | blood: | n/a |
24 | chr22:22874447-22874497 | ProgFib | skin: | n/a |
25 | chr22:22987072-22987122 | AG10803 | skin: | n/a |
26 | chr22:22987594-22987644 | AoSMC | blood vessel: | n/a |
27 | chr22:22901857-22901907 | SK-N-SH_RA | brain: | n/a |
28 | chr22:22899164-22899214 | U87 | brain: | n/a |
29 | chr22:22918718-22918768 | NT2-D1 | testis: | n/a |
30 | chr22:23003332-23003382 | HIPEpiC | eye: | n/a |
31 | chr22:22862884-22862934 | NT2-D1 | testis: | n/a |
32 | chr22:22987072-22987122 | AG09309 | skin: | n/a |
33 | chr22:23003332-23003382 | Caco-2 | colon: | n/a |
34 | chr22:22863219-22863269 | CMK | blood: | n/a |
35 | chr22:22864211-22864261 | LNCaP | prostate: | n/a |
36 | chr22:22863293-22863343 | HRCEpiC | kidney: | n/a |
37 | chr22:22863219-22863269 | SK-N-MC | brain: | n/a |
38 | chr22:22868585-22868635 | Hela-S3 | cervix: | n/a |
39 | chr22:22987594-22987644 | GM12891 | blood: | n/a |
40 | chr22:22901648-22901698 | SK-N-SH_RA | brain: | n/a |
41 | chr22:22901697-22901747 | GM12878 | blood: | n/a |
42 | chr22:22987126-22987176 | NB4 | blood: | n/a |
43 | chr22:22987110-22987160 | Hela-S3 | cervix: | n/a |
44 | chr22:22862144-22862194 | BE2_C | brain: | n/a |
45 | chr22:22863655-22863705 | SAEC | small airway: | n/a |
46 | chr22:22875030-22875080 | RPTEC | kidney: | n/a |
47 | chr22:22877746-22877796 | GM06990 | blood: | n/a |
48 | chr22:22901569-22901619 | AG09319 | gingival: | n/a |
49 | chr22:22902047-22902097 | AoSMC | blood vessel: | n/a |
50 | chr22:22987124-22987174 | ECC-1 | luminal epithelium: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr22:23150096..23152355-chr22:23225570..23228555,3 | K562 | blood: | |
2 | chr22:23146528..23149689-chr22:23183624..23186463,3 | K562 | blood: | |
3 | chr22:23051957..23054237-chr22:23097526..23100114,2 | MCF-7 | breast: | |
4 | chr22:23198208..23199202-chr22:23207225..23207879,2 | K562 | blood: | |
5 | chr22:23074680..23076572-chr22:23098152..23100959,3 | K562 | blood: | |
6 | chr22:23095801..23096340-chr22:23225919..23226704,2 | MCF-7 | breast: | |
7 | chr22:23144565..23145628-chr22:23297770..23298814,8 | K562 | blood: | |
8 | chr22:23234328..23239223-chr22:23249114..23253993,6 | K562 | blood: | |
9 | chr22:23065904..23069171-chr22:23069689..23073591,5 | K562 | blood: | |
10 | chr22:23193197..23194197-chr22:23219310..23220284,2 | K562 | blood: | |
11 | chr22:23054391..23056750-chr22:23065881..23068203,2 | K562 | blood: | |
12 | chr22:22838945..22841259-chr22:23042226..23045167,2 | K562 | blood: | |
13 | chr22:22996169..22998211-chr22:23014205..23015861,2 | K562 | blood: | |
14 | chr22:23054239..23055029-chr22:23225832..23226341,2 | K562 | blood: | |
15 | chr22:23086607..23088850-chr22:23208581..23210814,2 | K562 | blood: | |
16 | chr22:23129833..23131119-chr22:23189990..23191130,5 | K562 | blood: | |
17 | chr22:23190267..23191637-chr22:23219306..23220272,3 | MCF-7 | breast: | |
18 | chr22:22818126..22819037-chr22:23027372..23028176,2 | K562 | blood: | |
19 | chr22:23153953..23157348-chr22:23159325..23163829,7 | K562 | blood: | |
20 | chr22:23168657..23170784-chr22:23171805..23174406,4 | K562 | blood: | |
21 | chr22:23220364..23220920-chr22:23297863..23298670,2 | MCF-7 | breast: | |
22 | chr22:23190267..23191637-chr22:23219306..23220272,3 | MCF-7 | breast: | |
23 | chr22:23112639..23113142-chr22:23121659..23122519,2 | K562 | blood: | |
24 | chr22:23198020..23198527-chr22:23209390..23209956,2 | K562 | blood: | |
25 | chr22:23073545..23076572-chr22:23098155..23100959,3 | K562 | blood: | |
26 | chr22:23062281..23063095-chr22:23088193..23088767,2 | K562 | blood: | |
27 | chr22:22869796..22871589-chr22:22873857..22876442,2 | MCF-7 | breast: | |
28 | chr22:23143333..23145097-chr22:23222921..23225680,2 | K562 | blood: | |
29 | chr22:23197959..23198625-chr22:23297727..23298760,3 | MCF-7 | breast: | |
30 | chr22:23175812..23179209-chr22:23186134..23188076,3 | K562 | blood: | |
31 | chr22:23145558..23148585-chr22:23176672..23178832,3 | K562 | blood: | |
32 | chr22:23183438..23186320-chr22:23270023..23271683,2 | K562 | blood: | |
33 | chr22:23052115..23052859-chr22:23062295..23063225,4 | K562 | blood: | |
34 | chr22:22785736..22786496-chr22:23219303..23220252,2 | K562 | blood: | |
35 | chr22:23219728..23223013-chr22:23223632..23226175,4 | K562 | blood: | |
36 | chr22:23196132..23197336-chr22:23225306..23226816,4 | K562 | blood: | |
37 | chr22:23221270..23222356-chr22:23297830..23298690,5 | MCF-7 | breast: | |
38 | chr22:23157854..23159575-chr22:23265576..23269716,3 | K562 | blood: | |
39 | chr22:23145494..23147180-chr22:23431987..23434426,2 | K562 | blood: | |
40 | chr22:23149392..23151414-chr22:23260114..23262896,2 | K562 | blood: | |
41 | chr22:23032811..23035891-chr22:23043957..23046051,3 | K562 | blood: | |
42 | chr22:23095831..23096696-chr22:23112250..23113064,2 | MCF-7 | breast: | |
43 | chr22:23179447..23182169-chr22:23195701..23197857,2 | K562 | blood: | |
44 | chr22:23035638..23037325-chr22:23055287..23057560,2 | K562 | blood: | |
45 | chr22:23145087..23146964-chr22:23157198..23158794,2 | K562 | blood: | |
46 | chr22:23008775..23009294-chr22:23051939..23052804,2 | K562 | blood: | |
47 | chr22:22900116..22901855-chr22:22960770..22962778,2 | K562 | blood: | |
48 | chr22:23129985..23132046-chr22:23176209..23178175,2 | K562 | blood: | |
49 | chr22:23022987..23024500-chr22:23036554..23038233,2 | K562 | blood: | |
50 | chr22:23011183..23015794-chr22:23016592..23020508,5 | K562 | blood: |
(count:48 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-LL22NC03-63E9.3.1-1 | chr22:22905268-22905377 | NR_027426 |
2 | lnc-LL22NC03-63E9.3.1-1 | chr22:22906072-22909007 | NR_027426 |
3 | lnc-POM121L1P-3 | chr22:23053951-23054068 | NONHSAT083813 |
4 | lnc-RTDR1-1 | chr22:23248506-23248831 | NONHSAT083775 |
5 | lnc-POM121L1P-5 | chr22:23178179-23178296 | refGeneNc_260_NR_028483 |
6 | lnc-IGLL5-4 | chr22:23192550-23192799 | NONHSAT083828 |
7 | lnc-RTDR1-4 | chr22:23243305-23243327 | NONHSAT083834 |
8 | lnc-POM121L1P-1 | chr22:23045057-23045160 | NONHSAT083808 |
9 | lnc-POM121L1P-1 | chr22:23045437-23045463 | NONHSAT083808 |
10 | lnc-POM121L1P-5 | chr22:23167960-23168108 | refGeneNc_260_NR_028483 |
11 | lnc-GGTLC2-3 | chr22:23007120-23007377 | NONHSAT083803 |
12 | lnc-POM121L1P-1 | chr22:23038799-23038911 | NONHSAT083808 |
13 | lnc-POM121L1P-1 | chr22:23035358-23035378 | NONHSAT083808 |
14 | lnc-GGTLC2-4 | chr22:23015829-23016072 | NONHSAT083804 |
15 | lnc-POM121L1P-1 | chr22:23035632-23035916 | NONHSAT083808 |
16 | lnc-D87017.1-3 | chr22:23252998-23253245 | NONHSAT083835 |
17 | lnc-GGTLC2-5 | chr22:22961376-22961633 | NONHSAT083792 |
18 | lnc-RTDR1-4 | chr22:23242926-23243073 | NONHSAT083834 |
19 | lnc-IGLL5-7 | chr22:23157168-23157423 | NONHSAT083824 |
20 | lnc-POM121L1P-1 | chr22:23035462-23035547 | NONHSAT083808 |
21 | lnc-POM121L1P-4 | chr22:23155178-23156344 | ucscGeneNc_uc002zzz_1 |
22 | lnc-POM121L1P-1 | chr22:23045437-23045463 | NONHSAT083810 |
23 | lnc-POM121L1P-1 | chr22:23045057-23045160 | NONHSAT083810 |
24 | lnc-POM121L1P-5 | chr22:23164245-23164726 | refGeneNc_260_NR_028483 |
25 | lnc-POM121L1P-5 | chr22:23165262-23165535 | refGeneNc_260_NR_028483 |
26 | lnc-D87017.1-2 | chr22:23257805-23258097 | NONHSAT083836 |
27 | lnc-LL22NC03-63E9.3.1-2 | chr22:22922478-22922760 | NONHSAT083790 |
28 | lnc-GGTLC2-4 | chr22:23015622-23015679 | NONHSAT083804 |
29 | lnc-LL22NC03-63E9.3.1-1 | chr22:22901756-22901814 | NR_027426 |
30 | lnc-RTDR1-6 | chr22:23221233-23221684 | NONHSAT083832 |
31 | lnc-GGTLC2-6 | chr22:23021570-23021818 | NONHSAT083805 |
32 | lnc-POM121L1P-5 | chr22:23197736-23197863 | refGeneNc_260_NR_028483 |
33 | lnc-POM121L1P-1 | chr22:23035263-23035547 | ENSG00000223999 |
34 | lnc-POM121L1P-5 | chr22:23186421-23186739 | refGeneNc_260_NR_028483 |
35 | lnc-POM121L1P-5 | chr22:23220658-23220783 | refGeneNc_260_NR_028483 |
36 | lnc-POM121L1P-1 | chr22:23038579-23038911 | NONHSAT083810 |
37 | lnc-GGTLC2-10 | chr22:23104787-23105009 | NONHSAT083819 |
38 | lnc-GGTLC2-8 | chr22:23081432-23081675 | NONHSAT083816 |
39 | lnc-RTDR1-6 | chr22:23220011-23220059 | NONHSAT083832 |
40 | lnc-GGTLC2-3 | chr22:23006943-23006988 | NONHSAT083803 |
41 | lnc-POM121L1P-3 | chr22:23048732-23048890 | NONHSAT083813 |
42 | lnc-GGTLC2-9 | chr22:23098043-23098286 | NONHSAT083817 |
43 | lnc-IGLL5-5 | chr22:23180779-23181049 | NONHSAT083827 |
44 | lnc-POM121L1P-5 | chr22:23200951-23201121 | refGeneNc_260_NR_028483 |
45 | lnc-RTDR1-4 | chr22:23243491-23243570 | NONHSAT083834 |
46 | lnc-GGTLC2-7 | chr22:23043245-23043455 | NONHSAT083812 |
47 | lnc-POM121L1P-1 | chr22:23035632-23035797 | ENSG00000223999 |
48 | lnc-GGTLC2-5 | chr22:22961042-22961081 | NONHSAT083792 |
miRNA name | Chromosome Location | mirBase accession |
---|---|---|
hsa-miR-5571-5p | chr22:23228471-23228491 | MIMAT0022257 |
hsa-miR-650 | chr22:23165285-23165305 | MIMAT0003320 |
hsa-miR-5571-3p | chr22:23228511-23228529 | MIMAT0022258 |
(count:2 , 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 | chr22:22839482-22839476 |
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 |
IGLC7 | TF binding region |
IGLV3-32 | TF binding region |
IGLV3-13 | TF binding region |
IGLJ7 | 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 |
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 |
IGLC6 | 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 |
IGLC7 | CpG island |
IGLV3-32 | CpG island |
IGLV3-13 | CpG island |
IGLJ7 | 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 |
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 |
IGLC6 | CpG island |
IGLV3-9 | CpG island |
IGLV3-1 | CpG island |
IGLV3-21 | CpG island |
IGLV3-29 | CpG island |
IGLC2 | CpG island |
ENSG00000211648 | chromatin interactions |
ENSG00000237127 | chromatin interactions |
ENSG00000126883 | chromatin interactions |
ENSG00000253546 | chromatin interactions |
ENSG00000211659 | chromatin interactions |
ENSG00000211653 | chromatin interactions |
ENSG00000253889 | chromatin interactions |
ENSG00000211673 | chromatin interactions |
ENSG00000186716 | chromatin interactions |
ENSG00000264824 | chromatin interactions |
ENSG00000100030 | chromatin interactions |
ENSG00000254030 | chromatin interactions |
ENSG00000207835 | chromatin interactions |
ENSG00000223350 | chromatin interactions |
ENSG00000253590 | chromatin interactions |
ENSG00000211680 | chromatin interactions |
ENSG00000253920 | chromatin interactions |
ENSG00000253451 | chromatin interactions |
ENSG00000253338 | chromatin interactions |
ENSG00000223999 | chromatin interactions |
ENSG00000215417 | chromatin interactions |
ENSG00000211671 | chromatin interactions |
ENSG00000198477 | chromatin interactions |
ENSG00000211657 | chromatin interactions |
ENSG00000212102 | chromatin interactions |
ENSG00000100027 | chromatin interactions |
ENSG00000207834 | chromatin interactions |
ENSG00000234741 | chromatin interactions |
ENSG00000253963 | chromatin interactions |
ENSG00000222037 | chromatin interactions |
ENSG00000226420 | chromatin interactions |
ENSG00000211664 | chromatin interactions |
ENSG00000211677 | chromatin interactions |
ENSG00000215456 | chromatin interactions |
ENSG00000254240 | chromatin interactions |
ENSG00000220891 | chromatin interactions |
ENSG00000211656 | chromatin interactions |
ENSG00000253779 | chromatin interactions |
ENSG00000211669 | chromatin interactions |
ENSG00000207830 | chromatin interactions |
ENSG00000226595 | chromatin interactions |
ENSG00000185686 | chromatin interactions |
ENSG00000211655 | chromatin interactions |
ENSG00000224144 | chromatin interactions |
ENSG00000226477 | chromatin interactions |
ENSG00000187556 | chromatin interactions |
ENSG00000211675 | chromatin interactions |
ENSG00000211672 | chromatin interactions |
ENSG00000207832 | chromatin interactions |
ENSG00000253234 | chromatin interactions |
ENSG00000168288 | chromatin interactions |
ENSG00000211685 | chromatin interactions |
ENSG00000211674 | chromatin interactions |
ENSG00000253329 | chromatin interactions |
ENSG00000211663 | chromatin interactions |
ENSG00000100023 | chromatin interactions |
ENSG00000236794 | chromatin interactions |
ENSG00000254709 | chromatin interactions |
ENSG00000211660 | chromatin interactions |
ENSG00000253822 | chromatin interactions |
ENSG00000232603 | chromatin interactions |
ENSG00000128228 | chromatin interactions |
ENSG00000253448 | chromatin interactions |
ENSG00000207751 | chromatin interactions |
ENSG00000196787 | chromatin interactions |
ENSG00000253152 | chromatin interactions |
ENSG00000211667 | chromatin interactions |
ENSG00000100038 | chromatin interactions |
ENSG00000261135 | chromatin interactions |
ENSG00000100218 | chromatin interactions |
ENSG00000253913 | chromatin interactions |
ENSG00000253786 | chromatin interactions |
ENSG00000211641 | chromatin interactions |
ENSG00000231392 | chromatin interactions |
ENSG00000264629 | chromatin interactions |
ENSG00000252622 | chromatin interactions |
ENSG00000211661 | chromatin interactions |
ENSG00000100228 | chromatin interactions |
ENSG00000211665 | chromatin interactions |
ENSG00000211682 | chromatin interactions |
ENSG00000273342 | chromatin interactions |
ENSG00000254077 | chromatin interactions |
ENSG00000211681 | chromatin interactions |
ENSG00000211666 | chromatin interactions |
ENSG00000207836 | chromatin interactions |
ENSG00000124635 | chromatin interactions |
ENSG00000211670 | chromatin interactions |
ENSG00000254029 | chromatin interactions |
ENSG00000177675 | chromatin interactions |
ENSG00000206652 | chromatin interactions |
ENSG00000169548 | chromatin interactions |
ENSG00000211678 | chromatin interactions |
ENSG00000100034 | chromatin interactions |
ENSG00000211658 | chromatin interactions |
ENSG00000211676 | chromatin interactions |
ENSG00000211662 | chromatin interactions |
ENSG00000211684 | chromatin interactions |
ENSG00000231969 | chromatin interactions |
ENSG00000211679 | chromatin interactions |
ENSG00000232350 | chromatin interactions |
ING4 | Mature miRNA region |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs398182 | chr22:22839424-22839425 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs73156169 | chr22:22839428-22839429 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
3 | rs534312523 | chr22:22839451-22839452 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs557854433 | chr22:22839496-22839497 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs554277146 | chr22:22839511-22839512 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs181519240 | chr22:22839523-22839524 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs408785 | chr22:22839559-22839560 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
8 | rs556585974 | chr22:22839646-22839647 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs576719498 | chr22:22839671-22839672 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs186304504 | chr22:22839684-22839685 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs191279543 | chr22:22839693-22839694 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs113092504 | chr22:22839721-22839722 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs543509735 | chr22:22839748-22839749 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs536536483 | chr22:22839752-22839753 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs117942036 | chr22:22839776-22839777 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs540748568 | chr22:22839813-22839814 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs563483259 | chr22:22839887-22839888 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs563868299 | chr22:22839972-22839973 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs532850699 | chr22:22840007-22840008 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs75324277 | chr22:22840013-22840014 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs36195795 | chr22:22840095-22840096 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs569309657 | chr22:22840107-22840108 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs112826805 | chr22:22840122-22840123 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs3083384 | chr22:22840123-22840124 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs386394998 | chr22:22840124-22840125 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs397755394 | chr22:22840127-22840128 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs199826317 | chr22:22840128-22840129 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs200545239 | chr22:22840130-22840131 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs201726143 | chr22:22840131-22840132 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs529194119 | chr22:22840151-22840152 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs377714398 | chr22:22840174-22840175 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs541578155 | chr22:22840194-22840195 | Weak transcription Strong transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs377048317 | chr22:22840200-22840201 | Weak transcription Strong transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs35209123 | chr22:22840236-22840237 | Weak transcription Strong transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs531599551 | chr22:22840238-22840239 | Weak transcription Strong transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs557967370 | chr22:22840279-22840280 | Weak transcription Strong transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs9306362 | chr22:22840280-22840281 | Weak transcription Strong transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
38 | rs539935562 | chr22:22840384-22840385 | Weak transcription Strong transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs556600063 | chr22:22840412-22840413 | Weak transcription Strong transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs561567640 | chr22:22840426-22840427 | Weak transcription Strong transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs576317982 | chr22:22840474-22840475 | Weak transcription Strong transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs371239001 | chr22:22840569-22840570 | Weak transcription Strong transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs542525323 | chr22:22840592-22840593 | Weak transcription Strong transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs115512092 | chr22:22840640-22840641 | Weak transcription Strong transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs74765820 | chr22:22840675-22840676 | Weak transcription Strong transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs564332081 | chr22:22840749-22840750 | Weak transcription Strong transcription Genic enhancers Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs182648890 | chr22:22840867-22840868 | Enhancers Weak transcription Genic enhancers Strong transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs543069008 | chr22:22840868-22840869 | Enhancers Weak transcription Genic enhancers Strong transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs563308328 | chr22:22840916-22840917 | Enhancers Weak transcription Genic enhancers Strong transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs185116616 | chr22:22840960-22840961 | Enhancers Weak transcription Genic enhancers Strong transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Hodgkin''s lymphoma | 18641027 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Velocardiofacial syndrome | 20111667 | CNVD |
Medulloblastoma | 21979893 | CNVD |
sporadic solitary meningiomas | 19589153 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Autism | 22495311 | CNVD |
Emanuel syndrome | 21549014 | CNVD |
Digeorge syndrome | 22283845 | CNVD |
Schizophrenia | 17504246 | CNVD |
Digeorge syndrome | 18033723 | CNVD |
22q11 deletion syndrome | 17034021 | CNVD |
22q11 deletion syndrome | 22511897 | CNVD |
22q11 deletion syndrome | 16829213 | CNVD |
Autism | 22067053 | CNVD |
Autism | 19218893 | CNVD |
Biliary cancer | 22067053 | CNVD |
Congenital heart defect | 21390462 | CNVD |
Digeorge syndrome | 16617304 | CNVD |
Emanuel syndrome | 18184694 | CNVD |
Non-syndromic sensorineural hearing loss | 18184694 | CNVD |
Obsessive-compulsive disorder | 22067053 | CNVD |
Psychosis | 22067053 | CNVD |
Schizophrenia | 19415332 | CNVD |
Schizophrenia | 20587603 | CNVD |
Shprintzen syndrome | 19443537 | CNVD |
absent pulmonary valve syndrome | 16795129 | CNVD |
language delay | 22067053 | CNVD |
periventricular nodular heterotopia | 20648244 | CNVD |
renal disease | 17924346 | CNVD |
Schizophrenia | 20433910 | CNVD |
22q11 deletion syndrome | 17028864 | CNVD |
Schizophrenia | 16969581 | CNVD |
Non-syndromic sensorineural hearing loss | 17135275 | CNVD |
velo-cardio-facial syndrome | 17135275 | CNVD |
Digeorge syndrome | 18787571 | CNVD |
Autism | 18925931 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
22q11.2 microdeletion syndrome | 21547621 | CNVD |
Congenital heart defect | 21308838 | CNVD |
Digeorge syndrome | 16512914 | CNVD |
Digeorge syndrome | 20954168 | CNVD |
Nuchal translucency | 21837766 | CNVD |
Right aortic arch in the fetus | 17066500 | CNVD |
Shprintzen syndrome | 17117043 | CNVD |
Tetralogy of fallot | 17405110 | CNVD |
Velocardiofacial syndrome | 20140301 | CNVD |
Velocardiofacial syndrome | 16512914 | CNVD |
bone mass and metabolism | 20516202 | CNVD |
choanal atresia | 18209138 | CNVD |
extracardiac malformations | 17086578 | CNVD |
fetal heart defects | 21308838 | CNVD |
parathyroid gland dysfunction | 16793949 | CNVD |
prenatal diagnosis | 20453657 | CNVD |
velopharyngeal insufficiency | 19620585 | CNVD |
Prader-willi syndrome | 20942916 | CNVD |
22q11 deletion syndrome | 17653112 | CNVD |
Chronic myelomonocytic leukemia | 16760666 | CNVD |
Non-syndromic sensorineural hearing loss | 16829213 | CNVD |
Non-syndromic sensorineural hearing loss | 16760666 | CNVD |
Chordoma | 21602918 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Congenital heart defect | 22511896 | CNVD |
Breast cancer | 17603634 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Seminomas | 18059402 | CNVD |
Cancer | 16751803 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Metachromatic leukodystrophy | 18421352 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Gastrointestinal stromal cancer | 17535989 | CNVD |
Paraganglioma | 17535989 | CNVD |
Pulmonary chondroma | 17535989 | CNVD |
Breast cancer | 21858162 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Breast cancer | 21509527 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
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 | chr22:22829400-22840200 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
2 | chr22:22830600-22842800 | Weak transcription | Primary B cells from peripheral blood | blood |
3 | chr22:22832600-22861800 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
4 | chr22:22833400-22839800 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
5 | chr22:22833400-22854400 | Weak transcription | Brain Hippocampus Middle | brain |
6 | chr22:22835200-22842600 | Weak transcription | Fetal Intestine Large | intestine |
7 | chr22:22835400-22841200 | Weak transcription | Fetal Intestine Small | intestine |
8 | chr22:22835400-22846000 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
9 | chr22:22835800-22842000 | Weak transcription | H1 Cell Line | embryonic stem cell |
10 | chr22:22836000-22842000 | Weak transcription | HepG2 | liver |
11 | chr22:22837000-22840800 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
12 | chr22:22837400-22840800 | Weak transcription | Fetal Stomach | stomach |
13 | chr22:22837400-22842000 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
14 | chr22:22837400-22856000 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
15 | chr22:22837600-22842200 | Weak transcription | Primary T cells fromperipheralblood | blood |
16 | chr22:22837600-22843000 | Weak transcription | Fetal Brain Male | brain |
17 | chr22:22837600-22861800 | Weak transcription | Brain Angular Gyrus | brain |
18 | chr22:22837600-22862000 | Weak transcription | ES-WA7 Cell Line | embryonic stem cell |
19 | chr22:22837800-22840800 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
20 | chr22:22838000-22842000 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
21 | chr22:22838000-22842400 | Weak transcription | Primary T cells from cord blood | blood |
22 | chr22:22838000-22842400 | Weak transcription | Brain Anterior Caudate | brain |
23 | chr22:22838000-22847800 | Weak transcription | Brain Dorsolateral Prefrontal Cortex | brain |
24 | chr22:22838000-22862000 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
25 | chr22:22838200-22842000 | Weak transcription | Primary B cells from cord blood | blood |
26 | chr22:22838400-22856800 | Weak transcription | Primary hematopoietic stem cells | blood |
27 | chr22:22838600-22840800 | Strong transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
28 | chr22:22838600-22841000 | Weak transcription | Fetal Muscle Trunk | muscle |
29 | chr22:22838600-22849600 | Strong transcription | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
30 | chr22:22838600-22861800 | Weak transcription | Brain Cingulate Gyrus | brain |
31 | chr22:22838800-22840200 | Weak transcription | HSMMtube | muscle |
32 | chr22:22838800-22840600 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
33 | chr22:22838800-22840800 | Weak transcription | HSMM | muscle |
34 | chr22:22838800-22844800 | Weak transcription | Primary T helper memory cells from peripheral blood 1 | blood |
35 | chr22:22839000-22841400 | Genic enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
36 | chr22:22839000-22847800 | Weak transcription | A549 | lung |
37 | chr22:22839000-22862000 | Weak transcription | NH-A | brain |
38 | chr22:22839200-22840800 | Weak transcription | Fetal Adrenal Gland | Adrenal Gland |
39 | chr22:22839200-22843800 | Strong transcription | Brain Germinal Matrix | brain |
40 | chr22:22839200-22845000 | Strong transcription | K562 | blood |
41 | chr22:22839400-22839600 | Genic enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
42 | chr22:22839400-22839600 | Strong transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
43 | chr22:22839400-22840600 | Weak transcription | Fetal Muscle Leg | muscle |
44 | chr22:22839400-22840800 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
45 | chr22:22839400-22840800 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
46 | chr22:22839400-22843600 | Strong transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
47 | chr22:22839400-22846000 | Weak transcription | Primary T helper naive cells fromperipheralblood | blood |
48 | chr22:22839400-22848800 | Strong transcription | Fetal Brain Female | brain |
49 | chr22:22839400-22850400 | Strong transcription | Dnd41 | blood |
50 | chr22:22839400-22862200 | Weak transcription | Muscle Satellite Cultured Cells | -- |