Variant report
Variant | esv3456723 |
---|---|
Chromosome Location | chr22:21993399-22019258 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:2615)
- CpG islands (count:2198)
- Chromatin interactive region (count:99)
- LncRNA region (count:19)
- 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 | chr22:22011545-22011960 | K562 | blood: | n/a | n/a |
2 | ARID3A | chr22:22001001-22001358 | HepG2 | liver: | n/a | n/a |
3 | ARID3A | chr22:21995196-21996848 | K562 | blood: | n/a | chr22:21995547-21995563 chr22:21995546-21995562 |
4 | ARID3A | chr22:21997169-21997490 | HepG2 | liver: | n/a | n/a |
5 | ARID3A | chr22:22000958-22001353 | K562 | blood: | n/a | n/a |
6 | ARID3A | chr22:21995605-21996369 | HepG2 | liver: | n/a | n/a |
7 | ARID3A | chr22:22005402-22006640 | K562 | blood: | n/a | n/a |
8 | ARID3A | chr22:21997082-21998095 | K562 | blood: | n/a | n/a |
9 | ATF1 | chr22:21995281-21996730 | K562 | blood: | n/a | n/a |
10 | ATF2 | chr22:22011370-22011920 | H1-hESC | embryonic stem cell: | n/a | n/a |
11 | ATF2 | chr22:21996118-21996575 | GM12878 | blood: | n/a | n/a |
12 | ATF2 | chr22:22012351-22012691 | H1-hESC | embryonic stem cell: | n/a | n/a |
13 | ATF2 | chr22:22011930-22012348 | H1-hESC | embryonic stem cell: | n/a | n/a |
14 | ATF3 | chr22:21995488-21998200 | K562 | blood: | n/a | chr22:21996466-21996475 |
15 | ATF3 | chr22:22000859-22001447 | K562 | blood: | n/a | n/a |
16 | ATF3 | chr22:22012433-22013117 | K562 | blood: | n/a | n/a |
17 | ATF3 | chr22:22000578-22001443 | K562 | blood: | n/a | n/a |
18 | BACH1 | chr22:21996626-21998227 | K562 | blood: | n/a | n/a |
19 | BACH1 | chr22:22011363-22012165 | H1-hESC | embryonic stem cell: | n/a | n/a |
20 | BACH1 | chr22:21995780-21996788 | H1-hESC | embryonic stem cell: | n/a | n/a |
21 | BACH1 | chr22:22012764-22012964 | H1-hESC | embryonic stem cell: | n/a | n/a |
22 | BACH1 | chr22:21998762-21998766 | K562 | blood: | n/a | n/a |
23 | BACH1 | chr22:22005770-22006726 | K562 | blood: | n/a | n/a |
24 | BACH1 | chr22:21997147-21997679 | H1-hESC | embryonic stem cell: | n/a | n/a |
25 | BACH1 | chr22:21995232-21996396 | K562 | blood: | n/a | n/a |
26 | BACH1 | chr22:22007132-22007154 | K562 | blood: | n/a | n/a |
27 | BACH1 | chr22:22005707-22006458 | H1-hESC | embryonic stem cell: | n/a | n/a |
28 | BACH1 | chr22:22011230-22012251 | K562 | blood: | n/a | n/a |
29 | BCL3 | chr22:22018065-22018457 | GM12878 | blood: | n/a | n/a |
30 | BCL3 | chr22:22018024-22018445 | GM12878 | blood: | n/a | n/a |
31 | BCL3 | chr22:21996117-21996511 | A549 | lung: | n/a | n/a |
32 | BCLAF1 | chr22:22006349-22006661 | GM12878 | blood: | n/a | n/a |
33 | BCLAF1 | chr22:21997238-21997613 | GM12878 | blood: | n/a | n/a |
34 | BHLHE40 | chr22:22000826-22001367 | K562 | blood: | n/a | n/a |
35 | BHLHE40 | chr22:22010850-22012677 | K562 | blood: | n/a | chr22:22011878-22011894 |
36 | BHLHE40 | chr22:21995824-21996904 | GM12878 | blood: | n/a | n/a |
37 | BHLHE40 | chr22:22005316-22007318 | K562 | blood: | n/a | chr22:22007145-22007161 |
38 | BHLHE40 | chr22:21998393-21998431 | K562 | blood: | n/a | n/a |
39 | BHLHE40 | chr22:22001031-22001316 | GM12878 | blood: | n/a | n/a |
40 | BHLHE40 | chr22:22011587-22012024 | HepG2 | liver: | n/a | chr22:22011878-22011894 |
41 | BHLHE40 | chr22:22011622-22012117 | GM12878 | blood: | n/a | chr22:22011878-22011894 |
42 | BHLHE40 | chr22:21995283-21998111 | K562 | blood: | n/a | n/a |
43 | BRCA1 | chr22:22011739-22011904 | HepG2 | liver: | n/a | n/a |
44 | BRCA1 | chr22:21995854-21996639 | Hela-S3 | cervix: | n/a | n/a |
45 | BRCA1 | chr22:21996306-21996777 | HepG2 | liver: | n/a | n/a |
46 | BRCA1 | chr22:22001049-22001260 | HepG2 | liver: | n/a | n/a |
47 | BRCA1 | chr22:21996292-21996990 | H1-hESC | embryonic stem cell: | n/a | n/a |
48 | BRCA1 | chr22:22006516-22006645 | HepG2 | liver: | n/a | n/a |
49 | BRCA1 | chr22:22006270-22006370 | Hela-S3 | cervix: | n/a | n/a |
50 | BRCA1 | chr22:21997354-21997408 | HepG2 | liver: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr22:22006019-22006069 | HPAEpiC | pulmonary alveolar: | n/a |
2 | chr22:21996346-21996396 | HIPEpiC | eye: | n/a |
3 | chr22:22006019-22006069 | HPAEpiC | pulmonary alveolar: | n/a |
4 | chr22:21996346-21996396 | HIPEpiC | eye: | n/a |
5 | chr22:21996365-21996415 | HPAEpiC | pulmonary alveolar: | n/a |
6 | chr22:21997331-21997381 | SAEC | small airway: | n/a |
7 | chr22:22007095-22007145 | HCF | heart: | n/a |
8 | chr22:22011917-22011967 | AG04449 | skin: | fetal |
9 | chr22:21996116-21996166 | NHBE | bronchial: | n/a |
10 | chr22:22011008-22011058 | GM19239 | blood: | n/a |
11 | chr22:22007095-22007145 | PANC-1 | pancreas: | n/a |
12 | chr22:22007528-22007578 | BJ | skin: | n/a |
13 | chr22:21997091-21997141 | ECC-1 | luminal epithelium: | n/a |
14 | chr22:22012035-22012085 | HNPCEpiC | eye: | n/a |
15 | chr22:22002917-22002967 | PrEC | prostate: | n/a |
16 | chr22:21997091-21997141 | HUVEC | blood vessel: | n/a |
17 | chr22:22007633-22007683 | HNPCEpiC | eye: | n/a |
18 | chr22:22007154-22007204 | SK-N-MC | brain: | n/a |
19 | chr22:22007095-22007145 | HL-60 | blood: | n/a |
20 | chr22:22006201-22006251 | MCF10A-Er-Src | breast: | n/a |
21 | chr22:22007154-22007204 | HEK293 | kidney: | embryo |
22 | chr22:21996426-21996476 | NHBE | bronchial: | n/a |
23 | chr22:22007100-22007150 | AG09319 | gingival: | n/a |
24 | chr22:21996426-21996476 | AoSMC | blood vessel: | n/a |
25 | chr22:22007286-22007336 | AG09319 | gingival: | n/a |
26 | chr22:22016144-22016194 | HEEpiC | esophagus: | n/a |
27 | chr22:22001120-22001170 | HepG2 | liver: | n/a |
28 | chr22:22011008-22011058 | SKMC | muscle: | n/a |
29 | chr22:22007633-22007683 | Hepatocyte | liver: | n/a |
30 | chr22:22007154-22007204 | Jurkat | blood: | n/a |
31 | chr22:22011917-22011967 | T-47D | breast: | n/a |
32 | chr22:22011436-22011486 | ProgFib | skin: | n/a |
33 | chr22:22007515-22007565 | HRE | kidney: | n/a |
34 | chr22:22007100-22007150 | AG09309 | skin: | n/a |
35 | chr22:21996346-21996396 | BJ | skin: | n/a |
36 | chr22:21995943-21995993 | ovcar-3 | ovarian: | n/a |
37 | chr22:22007528-22007578 | Hepatocyte | liver: | n/a |
38 | chr22:22007286-22007336 | NHDF-neo | bronchial: | n/a |
39 | chr22:21998385-21998435 | AG09319 | gingival: | n/a |
40 | chr22:21996709-21996759 | GM12892 | blood: | n/a |
41 | chr22:21996353-21996403 | GM12878 | blood: | n/a |
42 | chr22:22016144-22016194 | AG10803 | skin: | n/a |
43 | chr22:22007286-22007336 | AG04450 | lung: | fetal |
44 | chr22:22011436-22011486 | A549 | lung: | n/a |
45 | chr22:22012495-22012545 | AG04450 | lung: | fetal |
46 | chr22:22012495-22012545 | PANC-1 | pancreas: | n/a |
47 | chr22:22012657-22012707 | PFSK-1 | brain: | n/a |
48 | chr22:21994485-21994535 | GM12878 | blood: | n/a |
49 | chr22:21998385-21998435 | HEEpiC | esophagus: | n/a |
50 | chr22:22002917-22002967 | GM19239 | blood: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr22:22018198..22021286-chr22:22305755..22308523,3 | K562 | blood: | |
2 | chr22:22009862..22011858-chr22:22305848..22308013,2 | K562 | blood: | |
3 | chr22:22018793..22021806-chr22:22220364..22223026,4 | K562 | blood: | |
4 | chr22:21993175..21995219-chr22:21995296..21996805,2 | MCF-7 | breast: | |
5 | chr22:21982497..21985083-chr22:22004368..22006741,4 | MCF-7 | breast: | |
6 | chr22:21995435..21996753-chr22:22005158..22006527,7 | K562 | blood: | |
7 | chr22:21994733..21998829-chr22:21999706..22002928,4 | MCF-7 | breast: | |
8 | chr22:22008392..22011858-chr22:22305848..22308742,3 | K562 | blood: | |
9 | chr1:173445270..173447365-chr22:21995394..21997975,2 | K562 | blood: | |
10 | chr22:22006832..22007456-chr22:22292539..22293060,2 | K562 | blood: | |
11 | chr22:21947623..21948560-chr22:21995300..21996217,4 | MCF-7 | breast: | |
12 | chr22:21947838..21949188-chr22:21997035..21997915,5 | K562 | blood: | |
13 | chr22:22014013..22016208-chr22:22290767..22292528,2 | K562 | blood: | |
14 | chr22:21979187..21986650-chr22:21993296..22001177,21 | MCF-7 | breast: | |
15 | chr22:21992086..21994401-chr22:22010428..22012823,2 | MCF-7 | breast: | |
16 | chr22:22011595..22013353-chr22:22082814..22084331,2 | K562 | blood: | |
17 | chr22:21982609..21984758-chr22:22010076..22013251,4 | MCF-7 | breast: | |
18 | chr22:22009565..22013226-chr22:22291661..22294169,4 | K562 | blood: | |
19 | chr22:22000621..22001181-chr22:22068085..22068935,2 | K562 | blood: | |
20 | chr22:22000176..22001700-chr22:22010564..22012742,9 | K562 | blood: | |
21 | chr22:22018793..22022039-chr22:22220476..22224115,4 | K562 | blood: | |
22 | chr22:22011781..22012348-chr9:4679303..4679947,2 | NB4 | blood: | |
23 | chr22:22003932..22007330-chr22:22018565..22021264,4 | MCF-7 | breast: | |
24 | chr22:21947958..21948761-chr22:21996942..21997594,2 | MCF-7 | breast: | |
25 | chr22:22011842..22015116-chr22:22321184..22324268,3 | K562 | blood: | |
26 | chr22:22011088..22014764-chr22:22088779..22092551,4 | K562 | blood: | |
27 | chr22:21269785..21272786-chr22:21994374..21997115,3 | K562 | blood: | |
28 | chr22:21979229..21980149-chr22:21995798..21996324,3 | K562 | blood: | |
29 | chr22:21982265..21985710-chr22:22005242..22008783,5 | MCF-7 | breast: | |
30 | chr22:21976812..21979275-chr22:22008557..22011391,2 | MCF-7 | breast: | |
31 | chr22:22005965..22007764-chr22:22291588..22295229,3 | K562 | blood: | |
32 | chr22:22000176..22001700-chr22:22010564..22012742,9 | K562 | blood: | |
33 | chr22:21992086..21994401-chr22:22010428..22012823,2 | MCF-7 | breast: | |
34 | chr22:22001071..22001592-chrX:41253386..41253907,2 | K562 | blood: | |
35 | chr22:21366999..21368578-chr22:21995007..21997962,2 | K562 | blood: | |
36 | chr22:21977792..21979613-chr22:22000477..22001713,17 | K562 | blood: | |
37 | chr16:3070409..3070959-chr22:22011327..22011969,2 | NB4 | blood: | |
38 | chr22:21993175..21995219-chr22:21995296..21996805,2 | MCF-7 | breast: | |
39 | chr22:21982245..21984958-chr22:21995255..21996524,19 | K562 | blood: | |
40 | chr22:22006264..22009261-chr22:22291037..22293088,2 | K562 | blood: | |
41 | chr22:22019101..22022300-chr22:22291488..22294276,4 | K562 | blood: | |
42 | chr22:22012894..22015753-chr22:22286806..22288838,2 | K562 | blood: | |
43 | chr22:21344673..21346260-chr22:21996364..21998044,2 | K562 | blood: | |
44 | chr22:21367078..21368760-chr22:21995192..21997962,2 | K562 | blood: | |
45 | chr22:21211756..21214604-chr22:22007278..22009466,2 | K562 | blood: | |
46 | chr22:21994729..21997466-chr22:22898799..22902183,3 | K562 | blood: | |
47 | chr22:21983192..21984464-chr22:22011235..22012398,3 | K562 | blood: | |
48 | chr22:22011367..22012289-chr22:22039368..22040162,2 | K562 | blood: | |
49 | chr22:22001132..22001649-chr22:22080659..22081209,2 | K562 | blood: | |
50 | chr22:22004774..22007479-chr22:22898413..22901210,2 | K562 | blood: |
(count:19 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-PPIL2-2 | chr22:22006559-22006620 | NONHSAT083699 |
2 | lnc-PPIL2-2 | chr22:22015126-22015310 | NONHSAT083699 |
3 | lnc-PPIL2-2 | chr22:22008050-22008456 | NONHSAT083703 |
4 | lnc-PPIL2-2 | chr22:22016223-22016652 | ENSG00000272954.1 |
5 | lnc-PPIL2-2 | chr22:22014991-22015310 | NONHSAT083706 |
6 | lnc-SDF2L1-1 | chr22:21995133-21995573 | ENSG00000273342.1 |
7 | lnc-PPIL2-2 | chr22:22016542-22016640 | NONHSAT083706 |
8 | lnc-PPIL2-2 | chr22:22015126-22015310 | NONHSAT083705 |
9 | lnc-PPIL2-2 | chr22:22012932-22012975 | NONHSAT083699 |
10 | lnc-PPIL2-2 | chr22:22007631-22007755 | NONHSAT083699 |
11 | lnc-PPIL2-2 | chr22:22016542-22016642 | NONHSAT083705 |
12 | lnc-PPIL2-2 | chr22:22007631-22007888 | NONHSAT083698 |
13 | lnc-SDF2L1-2 | chr22:22000511-22000680 | NONHSAT083697 |
14 | lnc-PPIL2-2 | chr22:22006494-22006620 | NONHSAT083698 |
15 | lnc-PPIL2-2 | chr22:22012555-22012751 | NONHSAT083699 |
16 | lnc-PPIL2-2 | chr22:22008302-22008456 | NONHSAT083699 |
17 | lnc-SDF2L1-2 | chr22:21998803-21998978 | NONHSAT083697 |
18 | lnc-PPIL2-2 | chr22:22014128-22014936 | NONHSAT083705 |
19 | lnc-PPIL2-2 | chr22:22008715-22009208 | NONHSAT083703 |
miRNA name | Chromosome Location | mirBase accession |
---|---|---|
hsa-miR-130b-3p | chr22:22007643-22007664 | MIMAT0000691 |
hsa-miR-130b-5p | chr22:22007605-22007625 | MIMAT0004680 |
hsa-miR-301b | chr22:22007314-22007336 | MIMAT0004958 |
(count:2 , 50 per page) page:
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No. | miRNA target gene | miRNA name | Chromosome Location | mirBase accession |
---|---|---|---|---|
1 | SDF2L1 | hsa-miR-124-3p | chr22:21998544-21998563 | |
2 | SDF2L1 | hsa-miR-124-3p | chr22:21998556-21998562 |
Variant related genes | Relation type |
---|---|
MIR301B | TF binding region |
ENSG00000273342 | TF binding region |
SDF2L1 | TF binding region |
PPIL2 | TF binding region |
MIR130B | TF binding region |
ENSG00000272954 | TF binding region |
MIR301B | CpG island |
ENSG00000273342 | CpG island |
SDF2L1 | CpG island |
PPIL2 | CpG island |
MIR130B | CpG island |
ENSG00000272954 | CpG island |
ENSG00000241973 | chromatin interactions |
ENSG00000184436 | chromatin interactions |
ENSG00000230513 | chromatin interactions |
ENSG00000117592 | chromatin interactions |
ENSG00000224086 | chromatin interactions |
ENSG00000169359 | chromatin interactions |
ENSG00000099942 | chromatin interactions |
ENSG00000185686 | chromatin interactions |
ENSG00000273061 | chromatin interactions |
ENSG00000207751 | chromatin interactions |
ENSG00000099940 | chromatin interactions |
ENSG00000212102 | chromatin interactions |
ENSG00000220891 | chromatin interactions |
ENSG00000099949 | chromatin interactions |
ENSG00000273342 | chromatin interactions |
ENSG00000128228 | chromatin interactions |
ENSG00000100038 | chromatin interactions |
ENSG00000237753 | chromatin interactions |
ENSG00000161149 | chromatin interactions |
ENSG00000161179 | chromatin interactions |
ENSG00000100023 | chromatin interactions |
ENSG00000100027 | chromatin interactions |
ENSG00000100034 | chromatin interactions |
ENSG00000100030 | chromatin interactions |
ENSG00000185651 | chromatin interactions |
ENSG00000106993 | chromatin interactions |
ENSG00000177854 | chromatin interactions |
ENSG00000144136 | chromatin interactions |
PTPN4 | Mature miRNA region |
ARHGAP1 | Mature miRNA region |
COX6B1 | Mature miRNA region |
NIN | Mature miRNA region |
EGLN3 | Mature miRNA region |
CDK19 | Mature miRNA region |
PPP6R3 | Mature miRNA region |
HEG1 | Mature miRNA region |
FYCO1 | Mature miRNA region |
SMIM12 | Mature miRNA region |
ASB6 | Mature miRNA region |
MPP5 | Mature miRNA region |
F3 | Mature miRNA region |
GOPC | Mature miRNA region |
DCAF8 | Mature miRNA region |
RAB5A | Mature miRNA region |
DICER1 | Mature miRNA region |
NDEL1 | Mature miRNA region |
EMC1 | Mature miRNA region |
R3HDM4 | Mature miRNA region |
GPATCH8 | Mature miRNA region |
OTUD4 | Mature miRNA region |
GNB5 | Mature miRNA region |
MID1IP1 | Mature miRNA region |
MAN1C1 | Mature miRNA region |
ADARB1 | Mature miRNA region |
MAN1A2 | Mature miRNA region |
TRIP10 | Mature miRNA region |
FASN | Mature miRNA region |
CPPED1 | Mature miRNA region |
ACPL2 | Mature miRNA region |
FAM129A | Mature miRNA region |
KIAA1549 | Mature miRNA region |
POLD3 | Mature miRNA region |
OGDHL | Mature miRNA region |
CAPZB | Mature miRNA region |
IER3IP1 | Mature miRNA region |
MBNL1 | Mature miRNA region |
NR3C1 | Mature miRNA region |
TAX1BP1 | Mature miRNA region |
DYNLL2 | Mature miRNA region |
PDRG1 | Mature miRNA region |
CD2AP | Mature miRNA region |
KMT2D | Mature miRNA region |
HIF1AN | Mature miRNA region |
SESTD1 | Mature miRNA region |
HBS1L | Mature miRNA region |
TOM1L2 | Mature miRNA region |
SLC35D1 | Mature miRNA region |
ARHGAP12 | Mature miRNA region |
ZEB1 | Mature miRNA region |
KCTD20 | Mature miRNA region |
SGMS1 | Mature miRNA region |
PDS5A | Mature miRNA region |
PBXIP1 | Mature miRNA region |
LBR | Mature miRNA region |
CDC5L | Mature miRNA region |
ICMT | Mature miRNA region |
MTPN | Mature miRNA region |
RUNX3 | Mature miRNA region |
CD164 | Mature miRNA region |
PDHA1 | Mature miRNA region |
PSMD9 | Mature miRNA region |
TGFBR2 | Mature miRNA region |
ZBTB4 | Mature miRNA region |
HSP90B1 | Mature miRNA region |
KLF11 | Mature miRNA region |
PHF3 | Mature miRNA region |
DPYSL5 | Mature miRNA region |
EGR2 | Mature miRNA region |
TMEM9B | Mature miRNA region |
PTPN11 | Mature miRNA region |
PRNP | Mature miRNA region |
SMG5 | Mature miRNA region |
MIDN | Mature miRNA region |
BLCAP | Mature miRNA region |
KBTBD2 | Mature miRNA region |
IKZF4 | Mature miRNA region |
GRAMD1A | Mature miRNA region |
GAS1 | Mature miRNA region |
TMEM168 | Mature miRNA region |
COPB1 | Mature miRNA region |
GLE1 | Mature miRNA region |
ALDH1B1 | Mature miRNA region |
CBFB | Mature miRNA region |
HELZ | Mature miRNA region |
CASP2 | Mature miRNA region |
ARID4B | Mature miRNA region |
UVRAG | Mature miRNA region |
C7orf60 | Mature miRNA region |
CLIP1 | Mature miRNA region |
RB1 | Mature miRNA region |
EFCAB14 | Mature miRNA region |
TOLLIP | Mature miRNA region |
FBXO28 | Mature miRNA region |
WDR33 | Mature miRNA region |
SPG20 | Mature miRNA region |
EPHA4 | Mature miRNA region |
KATNAL1 | Mature miRNA region |
BTBD10 | Mature miRNA region |
ASF1B | Mature miRNA region |
CNOT6 | Mature miRNA region |
TSG101 | Mature miRNA region |
PGRMC1 | Mature miRNA region |
SERINC3 | Mature miRNA region |
NCOR2 | Mature miRNA region |
ASF1A | Mature miRNA region |
RNF10 | Mature miRNA region |
ANKRD52 | Mature miRNA region |
ZNF202 | Mature miRNA region |
MTMR9 | Mature miRNA region |
BTG3 | Mature miRNA region |
JMY | Mature miRNA region |
NFIB | Mature miRNA region |
HSPA1B | Mature miRNA region |
PDZD11 | Mature miRNA region |
CNIH4 | Mature miRNA region |
ZNF217 | Mature miRNA region |
BTBD3 | Mature miRNA region |
TES | Mature miRNA region |
STK11 | Mature miRNA region |
LIMA1 | Mature miRNA region |
TNKS1BP1 | Mature miRNA region |
SIX4 | Mature miRNA region |
EZH1 | Mature miRNA region |
SLC10A3 | Mature miRNA region |
DDX5 | Mature miRNA region |
C1orf63 | Mature miRNA region |
DSTYK | Mature miRNA region |
SCAMP2 | Mature miRNA region |
GFOD1 | Mature miRNA region |
RAP2C | Mature miRNA region |
ANKFY1 | Mature miRNA region |
PTER | Mature miRNA region |
ARRDC3 | Mature miRNA region |
FOXJ3 | Mature miRNA region |
GPR137C | Mature miRNA region |
CRY2 | Mature miRNA region |
VCL | Mature miRNA region |
SH3BP5 | Mature miRNA region |
E2F1 | Mature miRNA region |
RPL8 | Mature miRNA region |
PAGR1 | Mature miRNA region |
EPC1 | Mature miRNA region |
ATMIN | Mature miRNA region |
ZNF417 | Mature miRNA region |
ARCN1 | Mature miRNA region |
MKRN2 | Mature miRNA region |
ARL1 | Mature miRNA region |
PAPOLA | Mature miRNA region |
HCCS | Mature miRNA region |
MSANTD4 | Mature miRNA region |
MID1 | Mature miRNA region |
SON | Mature miRNA region |
FAM72A | Mature miRNA region |
NR2C2AP | Mature miRNA region |
DUSP8 | Mature miRNA region |
TTC3 | Mature miRNA region |
MAP7 | Mature miRNA region |
CGNL1 | Mature miRNA region |
SPOPL | Mature miRNA region |
LDLR | Mature miRNA region |
HHEX | Mature miRNA region |
SSH2 | Mature miRNA region |
PSAP | Mature miRNA region |
MREG | Mature miRNA region |
C3orf38 | Mature miRNA region |
PPARG | Mature miRNA region |
SMAD4 | Mature miRNA region |
OXA1L | Mature miRNA region |
SRSF7 | Mature miRNA region |
HIVEP2 | Mature miRNA region |
RASSF1 | Mature miRNA region |
RAB5B | Mature miRNA region |
SEC23B | Mature miRNA region |
ANKRD29 | Mature miRNA region |
THOP1 | Mature miRNA region |
PPP1R12C | Mature miRNA region |
STYX | Mature miRNA region |
SECISBP2L | Mature miRNA region |
HARS | Mature miRNA region |
BRAT1 | Mature miRNA region |
PDE3B | Mature miRNA region |
CLIC4 | Mature miRNA region |
FBXL5 | Mature miRNA region |
TRPC3 | Mature miRNA region |
PTP4A1 | Mature miRNA region |
HSPA8 | Mature miRNA region |
KANSL1 | Mature miRNA region |
ACVR1 | Mature miRNA region |
C16orf70 | Mature miRNA region |
TP53INP1 | Mature miRNA region |
TRIM2 | Mature miRNA region |
AGO1 | Mature miRNA region |
TNFRSF21 | Mature miRNA region |
TMEM167A | Mature miRNA region |
SMYD2 | Mature miRNA region |
HNRNPUL1 | Mature miRNA region |
UBXN2A | Mature miRNA region |
RPRD1B | Mature miRNA region |
CNOT4 | Mature miRNA region |
DNMT1 | Mature miRNA region |
AKAP11 | Mature miRNA region |
EP300 | Mature miRNA region |
ZNF567 | Mature miRNA region |
SNX12 | Mature miRNA region |
RAB1B | Mature miRNA region |
CHD1 | Mature miRNA region |
AAMP | Mature miRNA region |
HABP4 | Mature miRNA region |
SLAIN1 | Mature miRNA region |
SRSF2 | Mature miRNA region |
ZCCHC14 | Mature miRNA region |
SFXN5 | Mature miRNA region |
RPL36AL | Mature miRNA region |
DDX6 | Mature miRNA region |
STRBP | Mature miRNA region |
PTPRG | Mature miRNA region |
ZBTB8A | Mature miRNA region |
DZIP3 | Mature miRNA region |
LRP8 | Mature miRNA region |
RGMB | Mature miRNA region |
KLHL28 | Mature miRNA region |
TMEM109 | Mature miRNA region |
RDH11 | Mature miRNA region |
ATE1 | Mature miRNA region |
RPA2 | Mature miRNA region |
UQCRQ | Mature miRNA region |
VCPKMT | Mature miRNA region |
KCTD10 | Mature miRNA region |
SLC44A1 | Mature miRNA region |
HNRNPR | Mature miRNA region |
TRIM59 | Mature miRNA region |
CSF1 | Mature miRNA region |
FAT3 | Mature miRNA region |
SEL1L3 | Mature miRNA region |
CSE1L | Mature miRNA region |
HOXA5 | Mature miRNA region |
SGTB | Mature miRNA region |
MAPRE3 | Mature miRNA region |
SNAPIN | Mature miRNA region |
COX10 | Mature miRNA region |
DDX3X | Mature miRNA region |
KLHL21 | Mature miRNA region |
SUN2 | Mature miRNA region |
NAA30 | Mature miRNA region |
PCDHGB4 | Mature miRNA region |
PPP6R2 | Mature miRNA region |
NACC2 | Mature miRNA region |
SLC5A3 | Mature miRNA region |
JARID2 | Mature miRNA region |
ADAR | Mature miRNA region |
IKZF2 | Mature miRNA region |
LPGAT1 | Mature miRNA region |
ADPRHL2 | Mature miRNA region |
SH3PXD2A | Mature miRNA region |
PSD3 | Mature miRNA region |
MFSD6 | Mature miRNA region |
ENPP5 | Mature miRNA region |
SUV420H1 | Mature miRNA region |
PDZD8 | Mature miRNA region |
CSNK1G1 | Mature miRNA region |
RNF145 | Mature miRNA region |
MYBPC1 | Mature miRNA region |
POGZ | Mature miRNA region |
SPATA2 | Mature miRNA region |
SECISBP2 | Mature miRNA region |
VLDLR | Mature miRNA region |
C12orf65 | Mature miRNA region |
MPHOSPH9 | Mature miRNA region |
CDC37L1 | Mature miRNA region |
PRUNE2 | Mature miRNA region |
EGFR | Mature miRNA region |
RAB34 | Mature miRNA region |
SRCAP | Mature miRNA region |
SYBU | Mature miRNA region |
SLMAP | Mature miRNA region |
CNOT1 | Mature miRNA region |
PPP1R9A | Mature miRNA region |
GRB10 | Mature miRNA region |
PTMA | Mature miRNA region |
CNOT2 | Mature miRNA region |
BNIP2 | Mature miRNA region |
RNF41 | Mature miRNA region |
BAHD1 | Mature miRNA region |
TMEM127 | Mature miRNA region |
GPATCH2 | Mature miRNA region |
MT-ND6 | Mature miRNA region |
FAM210A | Mature miRNA region |
AHR | Mature miRNA region |
MTMR4 | Mature miRNA region |
RAB12 | Mature miRNA region |
TCF4 | Mature miRNA region |
PRKAA1 | Mature miRNA region |
WEE1 | Mature miRNA region |
MEIS3 | Mature miRNA region |
HOXC8 | Mature miRNA region |
SOCS4 | Mature miRNA region |
PAPD4 | Mature miRNA region |
CKAP5 | Mature miRNA region |
ARL6IP1 | Mature miRNA region |
MACC1 | Mature miRNA region |
RASSF8 | Mature miRNA region |
ZNF264 | Mature miRNA region |
NOTCH2 | Mature miRNA region |
PPP1R15B | Mature miRNA region |
KLF9 | Mature miRNA region |
NCKAP5 | Mature miRNA region |
SMCR8 | Mature miRNA region |
POGK | Mature miRNA region |
BRWD1 | Mature miRNA region |
ATP6V1C1 | Mature miRNA region |
MB21D2 | Mature miRNA region |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs386819854 | chr22:21993402-21993403 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
2 | rs376265169 | chr22:21993410-21993411 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
3 | rs187427042 | chr22:21993423-21993424 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
4 | rs372123287 | chr22:21993424-21993425 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
5 | rs571428387 | chr22:21993435-21993436 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
6 | rs191843010 | chr22:21993462-21993463 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
7 | rs184303135 | chr22:21993485-21993486 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
8 | rs59876451 | chr22:21993506-21993507 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
9 | rs554596064 | chr22:21993508-21993509 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
10 | rs557263734 | chr22:21993544-21993545 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
11 | rs34783199 | chr22:21993545-21993546 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
12 | rs555698389 | chr22:21993558-21993559 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
13 | rs572469270 | chr22:21993573-21993574 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
14 | rs59590626 | chr22:21993576-21993577 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
15 | rs541079427 | chr22:21993582-21993583 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
16 | rs111236493 | chr22:21993587-21993588 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
17 | rs77375420 | chr22:21993608-21993609 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
18 | rs149012625 | chr22:21993638-21993639 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
19 | rs192808989 | chr22:21993705-21993706 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
20 | rs75850830 | chr22:21993718-21993719 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
21 | rs59931124 | chr22:21993753-21993754 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
22 | rs143637306 | chr22:21993809-21993810 | Weak transcription Bivalent Enhancer Enhancers | TF binding regionChromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
23 | rs147663109 | chr22:21993836-21993837 | Weak transcription Bivalent Enhancer Enhancers | TF binding regionChromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
24 | rs528186404 | chr22:21993874-21993875 | Weak transcription Bivalent Enhancer Enhancers | TF binding regionChromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
25 | rs551544562 | chr22:21993889-21993890 | Weak transcription Bivalent Enhancer Enhancers | TF binding regionChromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
26 | rs373477319 | chr22:21994004-21994005 | Weak transcription Enhancers | TF binding regionChromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
27 | rs571364669 | chr22:21994029-21994030 | Weak transcription Enhancers | TF binding regionChromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
28 | rs34035987 | chr22:21994044-21994045 | Weak transcription Enhancers | TF binding regionChromatin interactive region | 4 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
29 | rs142357096 | chr22:21994161-21994162 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
30 | rs146541651 | chr22:21994224-21994225 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
31 | rs536518511 | chr22:21994261-21994262 | Weak transcription Enhancers | TF binding regionChromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
32 | rs184317696 | chr22:21994289-21994290 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
33 | rs139179858 | chr22:21994290-21994291 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
34 | rs438849 | chr22:21994321-21994322 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
35 | rs534687798 | chr22:21994344-21994345 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
36 | rs190676692 | chr22:21994376-21994377 | Weak transcription Enhancers | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
37 | rs78518871 | chr22:21994381-21994382 | Weak transcription Enhancers | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
38 | rs34541938 | chr22:21994441-21994442 | Weak transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
39 | rs13053756 | chr22:21994458-21994459 | Weak transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
40 | rs543640249 | chr22:21994462-21994463 | Weak transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
41 | rs557493109 | chr22:21994491-21994492 | Weak transcription | CpG islandChromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
42 | rs112181333 | chr22:21994497-21994498 | Weak transcription | CpG islandChromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
43 | rs373685384 | chr22:21994570-21994571 | Weak transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
44 | rs574258000 | chr22:21994571-21994572 | Weak transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
45 | rs577416367 | chr22:21994631-21994632 | Weak transcription | TF binding regionChromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
46 | rs181984435 | chr22:21994663-21994664 | Weak transcription | TF binding regionChromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
47 | rs201222131 | chr22:21994694-21994695 | Weak transcription | TF binding regionChromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
48 | rs572845029 | chr22:21994704-21994705 | Weak transcription | TF binding regionChromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
49 | rs13054166 | chr22:21994709-21994710 | Weak transcription | TF binding regionChromatin interactive region | 5 gene(s) | Overlapped CNVs | n/a |
50 | rs34113121 | chr22:21994737-21994738 | Weak transcription | TF binding regionChromatin interactive region | 7 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 |
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 |
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 |
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 |
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 |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Cognitive impairment | 21505072 | CNVD |
Gastrointestinal stromal cancer | 20877625 | 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 | 20435627 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Chronic myeloid leukemia | 21384125 | CNVD |
Autism | 20841430 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr22:21984400-21995200 | Weak transcription | Fetal Intestine Small | intestine |
2 | chr22:21984400-21995600 | Weak transcription | H9 Cell Line | embryonic stem cell |
3 | chr22:21984400-21995600 | Weak transcription | Brain Inferior Temporal Lobe | brain |
4 | chr22:21984400-21995600 | Weak transcription | Esophagus | oesophagus |
5 | chr22:21984400-21995600 | Weak transcription | Gastric | stomach |
6 | chr22:21984400-21995800 | Weak transcription | Spleen | Spleen |
7 | chr22:21984400-21996000 | Weak transcription | Aorta | Aorta |
8 | chr22:21984400-21996200 | Weak transcription | Placenta Amnion | Placenta Amnion |
9 | chr22:21984600-21995200 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
10 | chr22:21984600-21995200 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
11 | chr22:21984600-21995400 | Weak transcription | Brain Cingulate Gyrus | brain |
12 | chr22:21984600-21995600 | Weak transcription | Brain Dorsolateral Prefrontal Cortex | brain |
13 | chr22:21984800-21995400 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
14 | chr22:21985000-21995200 | Weak transcription | GM12878-XiMat | blood |
15 | chr22:21987000-21995600 | Weak transcription | Primary T helper memory cells from peripheral blood 1 | blood |
16 | chr22:21987000-21995800 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
17 | chr22:21987200-21995600 | Weak transcription | Placenta | Placenta |
18 | chr22:21988400-21995400 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
19 | chr22:21988400-21995600 | Weak transcription | NHEK | skin |
20 | chr22:21990000-21995600 | Weak transcription | Right Atrium | heart |
21 | chr22:21991200-21993800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
22 | chr22:21991400-21995600 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
23 | chr22:21991600-21995600 | Weak transcription | Fetal Stomach | stomach |
24 | chr22:21992200-21994400 | Enhancers | K562 | blood |
25 | chr22:21992400-21994000 | Enhancers | HepG2 | liver |
26 | chr22:21992600-21995600 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
27 | chr22:21993000-21993800 | Enhancers | Fetal Intestine Large | intestine |
28 | chr22:21993000-21995600 | Weak transcription | Small Intestine | intestine |
29 | chr22:21993200-21995200 | Weak transcription | Duodenum Mucosa | Duodenum |
30 | chr22:21993200-21995200 | Weak transcription | Fetal Muscle Leg | muscle |
31 | chr22:21993200-21995400 | Weak transcription | A549 | lung |
32 | chr22:21993400-21995600 | Weak transcription | Fetal Muscle Trunk | muscle |
33 | chr22:21993600-21993800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
34 | chr22:21993800-21994000 | Bivalent Enhancer | iPS DF 19.11 Cell Line | embryonic stem cell |
35 | chr22:21993800-21995200 | Weak transcription | Fetal Intestine Large | intestine |
36 | chr22:21993800-21995400 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
37 | chr22:21993800-21995600 | Weak transcription | Stomach Mucosa | stomach |
38 | chr22:21994000-21995000 | Weak transcription | HepG2 | liver |
39 | chr22:21994400-21994800 | Weak transcription | K562 | blood |
40 | chr22:21994800-21995200 | Weak transcription | Primary T killer memory cells from peripheral blood | blood |
41 | chr22:21994800-21995200 | Enhancers | K562 | blood |
42 | chr22:21995000-21995400 | Enhancers | HepG2 | liver |
43 | chr22:21995000-21995600 | Enhancers | Pancreas | Pancrea |
44 | chr22:21995200-21995400 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
45 | chr22:21995200-21995400 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
46 | chr22:21995200-21995400 | Weak transcription | Primary T helper memory cells from peripheral blood 2 | blood |
47 | chr22:21995200-21995400 | Weak transcription | Primary T cells effector/memory enriched fromperipheralblood | blood |
48 | chr22:21995200-21995400 | Enhancers | Primary T killer memory cells from peripheral blood | blood |
49 | chr22:21995200-21995600 | Bivalent Enhancer | H1 Cell Line | embryonic stem cell |
50 | chr22:21995200-21995600 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |