Variant report
Variant | nsv914469 |
---|---|
Chromosome Location | chr22:21985094-22010918 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:2313)
- CpG islands (count:2565)
- Chromatin interactive region (count:97)
- LncRNA region (count:10)
- 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 | chr22:21997082-21998095 | K562 | blood: | n/a | n/a |
2 | ARID3A | chr22:21986801-21987259 | K562 | blood: | n/a | n/a |
3 | ARID3A | chr22:21995196-21996848 | K562 | blood: | n/a | chr22:21995547-21995563 chr22:21995546-21995562 |
4 | ARID3A | chr22:21995605-21996369 | HepG2 | liver: | n/a | n/a |
5 | ARID3A | chr22:21997169-21997490 | HepG2 | liver: | n/a | n/a |
6 | ARID3A | chr22:21992859-21993087 | HepG2 | liver: | n/a | n/a |
7 | ARID3A | chr22:22000958-22001353 | K562 | blood: | n/a | n/a |
8 | ARID3A | chr22:22001001-22001358 | HepG2 | liver: | n/a | n/a |
9 | ARID3A | chr22:22005402-22006640 | K562 | blood: | n/a | n/a |
10 | ATF1 | chr22:21995281-21996730 | K562 | blood: | n/a | n/a |
11 | ATF2 | chr22:21996118-21996575 | GM12878 | blood: | n/a | n/a |
12 | ATF3 | chr22:21995488-21998200 | K562 | blood: | n/a | chr22:21996466-21996475 |
13 | ATF3 | chr22:22000578-22001443 | K562 | blood: | n/a | n/a |
14 | ATF3 | chr22:22000859-22001447 | K562 | blood: | n/a | n/a |
15 | BACH1 | chr22:21997147-21997679 | H1-hESC | embryonic stem cell: | n/a | n/a |
16 | BACH1 | chr22:22005770-22006726 | K562 | blood: | n/a | n/a |
17 | BACH1 | chr22:21998762-21998766 | K562 | blood: | n/a | n/a |
18 | BACH1 | chr22:21986523-21987289 | K562 | blood: | n/a | n/a |
19 | BACH1 | chr22:22005707-22006458 | H1-hESC | embryonic stem cell: | n/a | n/a |
20 | BACH1 | chr22:21995232-21996396 | K562 | blood: | n/a | n/a |
21 | BACH1 | chr22:21984874-21985741 | K562 | blood: | n/a | n/a |
22 | BACH1 | chr22:21988389-21988413 | K562 | blood: | n/a | n/a |
23 | BACH1 | chr22:21996626-21998227 | K562 | blood: | n/a | n/a |
24 | BACH1 | chr22:22007132-22007154 | K562 | blood: | n/a | n/a |
25 | BACH1 | chr22:21995780-21996788 | H1-hESC | embryonic stem cell: | n/a | n/a |
26 | BCL3 | chr22:21996117-21996511 | A549 | lung: | n/a | n/a |
27 | BCLAF1 | chr22:22006349-22006661 | GM12878 | blood: | n/a | n/a |
28 | BCLAF1 | chr22:21997238-21997613 | GM12878 | blood: | n/a | n/a |
29 | BHLHE40 | chr22:21986504-21987908 | K562 | blood: | n/a | n/a |
30 | BHLHE40 | chr22:22010850-22012677 | K562 | blood: | n/a | chr22:22011878-22011894 |
31 | BHLHE40 | chr22:22001031-22001316 | GM12878 | blood: | n/a | n/a |
32 | BHLHE40 | chr22:21992874-21993220 | K562 | blood: | n/a | n/a |
33 | BHLHE40 | chr22:22000826-22001367 | K562 | blood: | n/a | n/a |
34 | BHLHE40 | chr22:21995283-21998111 | K562 | blood: | n/a | n/a |
35 | BHLHE40 | chr22:21995824-21996904 | GM12878 | blood: | n/a | n/a |
36 | BHLHE40 | chr22:22005316-22007318 | K562 | blood: | n/a | chr22:22007145-22007161 |
37 | BHLHE40 | chr22:21998393-21998431 | K562 | blood: | n/a | n/a |
38 | BHLHE40 | chr22:21992879-21993208 | HepG2 | liver: | n/a | n/a |
39 | BRCA1 | chr22:22001049-22001260 | HepG2 | liver: | n/a | n/a |
40 | BRCA1 | chr22:21997354-21997408 | HepG2 | liver: | n/a | n/a |
41 | BRCA1 | chr22:21996292-21996990 | H1-hESC | embryonic stem cell: | n/a | n/a |
42 | BRCA1 | chr22:22006516-22006645 | HepG2 | liver: | n/a | n/a |
43 | BRCA1 | chr22:22006270-22006370 | Hela-S3 | cervix: | n/a | n/a |
44 | BRCA1 | chr22:21996127-21996572 | GM12878 | blood: | n/a | n/a |
45 | BRCA1 | chr22:21996306-21996777 | HepG2 | liver: | n/a | n/a |
46 | BRCA1 | chr22:21995854-21996639 | Hela-S3 | cervix: | n/a | n/a |
47 | BRCA1 | chr22:22006650-22006689 | Hela-S3 | cervix: | n/a | n/a |
48 | CBX3 | chr22:21981931-21988144 | K562 | blood: | n/a | chr22:21985726-21985737 |
49 | CBX3 | chr22:21986290-21987771 | K562 | blood: | n/a | n/a |
50 | CBX3 | chr22:22005045-22006916 | K562 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr22:22002917-22002967 | HNPCEpiC | eye: | n/a |
2 | chr22:21996426-21996476 | GM06990 | blood: | n/a |
3 | chr22:21991401-21991451 | NHBE | bronchial: | n/a |
4 | chr22:22002917-22002967 | HNPCEpiC | eye: | n/a |
5 | chr22:21996426-21996476 | GM06990 | blood: | n/a |
6 | chr22:21991401-21991451 | NHBE | bronchial: | n/a |
7 | chr22:21996353-21996403 | NT2-D1 | testis: | n/a |
8 | chr22:21985434-21985484 | HCT-116 | colon: | n/a |
9 | chr22:21996709-21996759 | U87 | brain: | n/a |
10 | chr22:22007515-22007565 | ProgFib | skin: | n/a |
11 | chr22:21996348-21996398 | HAEpiC | amniotic membrane: | n/a |
12 | chr22:21996365-21996415 | HMEC | breast: | n/a |
13 | chr22:21985434-21985484 | H1-hESC | embryonic stem cell: | embryo |
14 | chr22:21986985-21987035 | PrEC | prostate: | n/a |
15 | chr22:21987048-21987098 | NT2-D1 | testis: | n/a |
16 | chr22:22006019-22006069 | NB4 | blood: | n/a |
17 | chr22:21987039-21987089 | LNCaP | prostate: | n/a |
18 | chr22:21985434-21985484 | AG10803 | skin: | n/a |
19 | chr22:21987039-21987089 | K562 | blood: | n/a |
20 | chr22:21991401-21991451 | HCPEpiC | choroid plexus: | n/a |
21 | chr22:22002917-22002967 | PFSK-1 | brain: | n/a |
22 | chr22:21986360-21986410 | HRE | kidney: | n/a |
23 | chr22:21986960-21987010 | PrEC | prostate: | n/a |
24 | chr22:21986976-21987026 | HIPEpiC | eye: | n/a |
25 | chr22:21991401-21991451 | NB4 | blood: | n/a |
26 | chr22:22005669-22005719 | SK-N-SH | brain: | n/a |
27 | chr22:22007528-22007578 | LNCaP | prostate: | n/a |
28 | chr22:22005669-22005719 | HEEpiC | esophagus: | n/a |
29 | chr22:21995943-21995993 | GM19239 | blood: | n/a |
30 | chr22:21995943-21995993 | HCF | heart: | n/a |
31 | chr22:22006019-22006069 | IMR90 | lung: | fetal |
32 | chr22:21986960-21987010 | HEK293 | kidney: | embryo |
33 | chr22:21993211-21993261 | NHBE | bronchial: | n/a |
34 | chr22:21987190-21987240 | ProgFib | skin: | n/a |
35 | chr22:21988653-21988703 | AG04450 | lung: | fetal |
36 | chr22:22007633-22007683 | AG09309 | skin: | n/a |
37 | chr22:21996353-21996403 | AG04450 | lung: | fetal |
38 | chr22:22006019-22006069 | PrEC | prostate: | n/a |
39 | chr22:21996116-21996166 | PrEC | prostate: | n/a |
40 | chr22:21997091-21997141 | MCF10A-Er-Src | breast: | n/a |
41 | chr22:21996426-21996476 | Jurkat | blood: | n/a |
42 | chr22:21988653-21988703 | HPAEpiC | pulmonary alveolar: | n/a |
43 | chr22:21991401-21991451 | HNPCEpiC | eye: | n/a |
44 | chr22:21986360-21986410 | HRCEpiC | kidney: | n/a |
45 | chr22:21996709-21996759 | GM12878 | blood: | n/a |
46 | chr22:21987190-21987240 | GM12891 | blood: | n/a |
47 | chr22:22005669-22005719 | ProgFib | skin: | n/a |
48 | chr22:21997091-21997141 | IMR90 | lung: | fetal |
49 | chr22:22007528-22007578 | A549 | lung: | n/a |
50 | chr22:21986976-21987026 | MCF10A-Er-Src | breast: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr22:21355601..21357315-chr22:22006287..22008814,2 | K562 | blood: | |
2 | chr22:21920647..21924218-chr22:21994881..21998096,5 | MCF-7 | breast: | |
3 | chr22:21996385..21999011-chr22:22290359..22293088,2 | K562 | blood: | |
4 | chr22:21996071..21998906-chr22:21999143..22002137,6 | MCF-7 | breast: | |
5 | chr22:21982609..21984758-chr22:22010076..22013251,4 | MCF-7 | breast: | |
6 | chr22:21999457..22002390-chr22:22292364..22294221,2 | K562 | blood: | |
7 | chr22:21992086..21994401-chr22:22010428..22012823,2 | MCF-7 | breast: | |
8 | chr22:21947958..21948761-chr22:21996942..21997594,2 | MCF-7 | breast: | |
9 | chr22:21947838..21949188-chr22:21997035..21997915,5 | K562 | blood: | |
10 | chr22:21983948..21987333-chr22:22088191..22091412,3 | K562 | blood: | |
11 | chr22:21988073..21992756-chr22:21993885..21998073,8 | MCF-7 | breast: | |
12 | chr1:11968224..11970573-chr22:21982926..21985851,3 | K562 | blood: | |
13 | chr22:22000176..22001700-chr22:22010564..22012742,9 | K562 | blood: | |
14 | chr22:21997414..21999019-chr22:22004006..22006421,2 | MCF-7 | breast: | |
15 | chr22:21976812..21979275-chr22:22008557..22011391,2 | MCF-7 | breast: | |
16 | chr22:21982265..21985710-chr22:22005242..22008783,5 | MCF-7 | breast: | |
17 | chr22:22001036..22002696-chr22:22109195..22111592,2 | K562 | blood: | |
18 | chr22:21211756..21214604-chr22:22007278..22009466,2 | K562 | blood: | |
19 | chr22:21983960..21984551-chr22:21997131..21998005,2 | MCF-7 | breast: | |
20 | chr22:21979187..21986650-chr22:21993296..22001177,21 | MCF-7 | breast: | |
21 | chr22:21948005..21948703-chr22:22000818..22001692,2 | MCF-7 | breast: | |
22 | chr22:21821074..21822903-chr22:21982952..21985553,3 | K562 | blood: | |
23 | chr22:21995435..21996753-chr22:22005158..22006527,7 | K562 | blood: | |
24 | chr22:21982548..21988468-chr22:22219240..22225195,10 | K562 | blood: | |
25 | chr22:21983684..21984891-chr22:21992715..21993648,3 | K562 | blood: | |
26 | chr22:22000176..22001700-chr22:22010564..22012742,9 | K562 | blood: | |
27 | chr22:22009908..22011578-chr22:22291965..22294169,2 | K562 | blood: | |
28 | chr22:21982265..21985710-chr22:22005242..22008783,5 | MCF-7 | breast: | |
29 | chr22:22001132..22001649-chr22:22080659..22081209,2 | K562 | blood: | |
30 | chr20:47899469..47901979-chr22:21989412..21992304,2 | K562 | blood: | |
31 | chr22:21982497..21985083-chr22:22004368..22006741,4 | MCF-7 | breast: | |
32 | chr22:21979187..21986650-chr22:21993296..22001177,21 | MCF-7 | breast: | |
33 | chr22:21995824..21997937-chr22:22089395..22092110,2 | MCF-7 | breast: | |
34 | chr22:22001170..22003842-chr22:22303847..22305574,2 | K562 | blood: | |
35 | chr22:21981855..21982688-chr22:21997015..21997547,2 | K562 | blood: | |
36 | chr22:21995425..21997496-chrX:153238069..153239823,2 | K562 | blood: | |
37 | chr22:21995515..21997247-chr22:22018437..22020828,2 | MCF-7 | breast: | |
38 | chr22:21955048..21956824-chr22:21997318..21999777,2 | MCF-7 | breast: | |
39 | chr22:22005749..22007465-chr22:22293364..22295229,2 | K562 | blood: | |
40 | chr22:21344673..21346260-chr22:21996364..21998044,2 | K562 | blood: | |
41 | chr22:22000621..22001181-chr22:22068085..22068935,2 | K562 | blood: | |
42 | chr22:21992086..21994401-chr22:22010428..22012823,2 | MCF-7 | breast: | |
43 | chr22:21367078..21368760-chr22:21995192..21997962,2 | K562 | blood: | |
44 | chr22:21269803..21271886-chr22:21982813..21985485,2 | K562 | blood: | |
45 | chr22:22008392..22011858-chr22:22305848..22308742,3 | K562 | blood: | |
46 | chr22:21982768..21985323-chr22:22291461..22294984,4 | K562 | blood: | |
47 | chr22:21983280..21984513-chr22:21996963..21997683,4 | K562 | blood: | |
48 | chr22:21979671..21985739-chr22:22220007..22225195,6 | K562 | blood: | |
49 | chr22:22003932..22007330-chr22:22018565..22021264,4 | MCF-7 | breast: | |
50 | chr12:120728150..120730053-chr22:21983081..21985244,2 | K562 | blood: |
(count:10 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-SDF2L1-2 | chr22:22000511-22000680 | NONHSAT083697 |
2 | lnc-SDF2L1-2 | chr22:21998803-21998978 | NONHSAT083697 |
3 | lnc-PPIL2-2 | chr22:22008302-22008456 | NONHSAT083699 |
4 | lnc-PPIL2-2 | chr22:22008050-22008456 | NONHSAT083703 |
5 | lnc-PPIL2-2 | chr22:22008715-22009208 | NONHSAT083703 |
6 | lnc-SDF2L1-1 | chr22:21995133-21995573 | ENSG00000273342.1 |
7 | lnc-PPIL2-2 | chr22:22007631-22007755 | NONHSAT083699 |
8 | lnc-PPIL2-2 | chr22:22006494-22006620 | NONHSAT083698 |
9 | lnc-PPIL2-2 | chr22:22007631-22007888 | NONHSAT083698 |
10 | lnc-PPIL2-2 | chr22:22006559-22006620 | NONHSAT083699 |
miRNA name | Chromosome Location | mirBase accession |
---|---|---|
hsa-miR-301b | chr22:22007314-22007336 | MIMAT0004958 |
hsa-miR-130b-5p | chr22:22007605-22007625 | MIMAT0004680 |
hsa-miR-130b-3p | chr22:22007643-22007664 | MIMAT0000691 |
(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 | chr22:21998556-21998562 | |
2 | SDF2L1 | hsa-miR-124-3p | chr22:21998544-21998563 |
Variant related genes | Relation type |
---|---|
CCDC116 | TF binding region |
MIR301B | TF binding region |
ENSG00000273342 | TF binding region |
SDF2L1 | TF binding region |
PPIL2 | TF binding region |
MIR130B | TF binding region |
YDJC | TF binding region |
CCDC116 | CpG island |
MIR301B | CpG island |
ENSG00000273342 | CpG island |
SDF2L1 | CpG island |
PPIL2 | CpG island |
MIR130B | CpG island |
YDJC | CpG island |
ENSG00000177854 | chromatin interactions |
ENSG00000220891 | chromatin interactions |
ENSG00000212102 | chromatin interactions |
ENSG00000161179 | chromatin interactions |
ENSG00000128228 | chromatin interactions |
ENSG00000206176 | chromatin interactions |
ENSG00000100030 | chromatin interactions |
ENSG00000148303 | chromatin interactions |
ENSG00000100027 | chromatin interactions |
ENSG00000224086 | chromatin interactions |
ENSG00000206140 | chromatin interactions |
ENSG00000100023 | chromatin interactions |
ENSG00000237753 | chromatin interactions |
ENSG00000099940 | chromatin interactions |
ENSG00000099942 | chromatin interactions |
ENSG00000185686 | chromatin interactions |
ENSG00000184436 | chromatin interactions |
ENSG00000161149 | chromatin interactions |
ENSG00000202538 | chromatin interactions |
ENSG00000200985 | chromatin interactions |
ENSG00000273342 | chromatin interactions |
ENSG00000144136 | chromatin interactions |
ENSG00000201801 | chromatin interactions |
ENSG00000207751 | chromatin interactions |
ENSG00000117592 | chromatin interactions |
ENSG00000099949 | chromatin interactions |
ENSG00000206611 | chromatin interactions |
ENSG00000185651 | chromatin interactions |
ENSG00000100034 | chromatin interactions |
ENSG00000230513 | chromatin interactions |
ENSG00000100038 | chromatin interactions |
ENSG00000169359 | chromatin interactions |
ENSG00000241973 | chromatin interactions |
ENSG00000200831 | chromatin interactions |
MTPN | Mature miRNA region |
HNRNPUL1 | Mature miRNA region |
PDZD11 | Mature miRNA region |
MTMR4 | Mature miRNA region |
PDHA1 | Mature miRNA region |
COPB1 | Mature miRNA region |
RAB5B | Mature miRNA region |
ADPRHL2 | Mature miRNA region |
C3orf38 | Mature miRNA region |
ARID4B | Mature miRNA region |
SUN2 | Mature miRNA region |
RNF145 | Mature miRNA region |
NACC2 | Mature miRNA region |
ARRDC3 | Mature miRNA region |
PPP1R15B | Mature miRNA region |
IKZF2 | Mature miRNA region |
AKAP11 | Mature miRNA region |
SECISBP2L | Mature miRNA region |
HABP4 | Mature miRNA region |
VLDLR | Mature miRNA region |
ATE1 | Mature miRNA region |
UQCRQ | Mature miRNA region |
SLC10A3 | Mature miRNA region |
SLMAP | Mature miRNA region |
DDX5 | Mature miRNA region |
SEL1L3 | Mature miRNA region |
EZH1 | Mature miRNA region |
NCKAP5 | Mature miRNA region |
SUV420H1 | Mature miRNA region |
CSE1L | Mature miRNA region |
VCPKMT | Mature miRNA region |
KANSL1 | Mature miRNA region |
SYBU | Mature miRNA region |
DDX3X | Mature miRNA region |
HSP90B1 | Mature miRNA region |
HSPA1B | Mature miRNA region |
ARHGAP1 | Mature miRNA region |
HOXA5 | Mature miRNA region |
CSNK1G1 | Mature miRNA region |
NAA30 | Mature miRNA region |
LIMA1 | Mature miRNA region |
MEIS3 | Mature miRNA region |
PPP6R2 | Mature miRNA region |
RGMB | Mature miRNA region |
DUSP8 | Mature miRNA region |
ZNF567 | Mature miRNA region |
SPG20 | Mature miRNA region |
SNAPIN | Mature miRNA region |
KCTD20 | Mature miRNA region |
CNOT1 | Mature miRNA region |
SH3PXD2A | Mature miRNA region |
PSD3 | Mature miRNA region |
MAPRE3 | Mature miRNA region |
SRSF2 | Mature miRNA region |
ADAR | Mature miRNA region |
ALDH1B1 | Mature miRNA region |
CKAP5 | Mature miRNA region |
SNX12 | Mature miRNA region |
TTC3 | Mature miRNA region |
RDH11 | Mature miRNA region |
C16orf70 | Mature miRNA region |
PTPRG | Mature miRNA region |
HELZ | Mature miRNA region |
BNIP2 | Mature miRNA region |
GAS1 | Mature miRNA region |
STYX | Mature miRNA region |
THOP1 | Mature miRNA region |
NCOR2 | Mature miRNA region |
PTMA | Mature miRNA region |
RPL8 | Mature miRNA region |
ENPP5 | Mature miRNA region |
E2F1 | Mature miRNA region |
STK11 | Mature miRNA region |
GLE1 | Mature miRNA region |
PDZD8 | Mature miRNA region |
CAPZB | Mature miRNA region |
DDX6 | Mature miRNA region |
ZEB1 | Mature miRNA region |
CSF1 | Mature miRNA region |
TMEM168 | Mature miRNA region |
MPP5 | Mature miRNA region |
ARL6IP1 | Mature miRNA region |
CNIH4 | Mature miRNA region |
PRUNE2 | Mature miRNA region |
MAP7 | Mature miRNA region |
HSPA8 | Mature miRNA region |
PSMD9 | Mature miRNA region |
ZBTB4 | Mature miRNA region |
KMT2D | Mature miRNA region |
UVRAG | Mature miRNA region |
SON | Mature miRNA region |
SECISBP2 | Mature miRNA region |
SLC44A1 | Mature miRNA region |
SEC23B | Mature miRNA region |
KLHL28 | Mature miRNA region |
EMC1 | Mature miRNA region |
KCTD10 | Mature miRNA region |
EFCAB14 | Mature miRNA region |
CDC37L1 | Mature miRNA region |
SERINC3 | Mature miRNA region |
HIVEP2 | Mature miRNA region |
BLCAP | Mature miRNA region |
PTP4A1 | Mature miRNA region |
HEG1 | Mature miRNA region |
DCAF8 | Mature miRNA region |
KATNAL1 | Mature miRNA region |
RUNX3 | Mature miRNA region |
GNB5 | Mature miRNA region |
MB21D2 | Mature miRNA region |
DICER1 | Mature miRNA region |
SESTD1 | Mature miRNA region |
AGO1 | Mature miRNA region |
C7orf60 | Mature miRNA region |
KBTBD2 | Mature miRNA region |
JMY | Mature miRNA region |
HHEX | Mature miRNA region |
OXA1L | Mature miRNA region |
IER3IP1 | Mature miRNA region |
FAT3 | Mature miRNA region |
HOXC8 | Mature miRNA region |
ACPL2 | Mature miRNA region |
ARL1 | Mature miRNA region |
LPGAT1 | Mature miRNA region |
KLF11 | Mature miRNA region |
ARHGAP12 | Mature miRNA region |
HNRNPR | Mature miRNA region |
EPC1 | Mature miRNA region |
LRP8 | Mature miRNA region |
RNF10 | Mature miRNA region |
EGFR | Mature miRNA region |
SRCAP | Mature miRNA region |
PPP1R9A | Mature miRNA region |
ZNF417 | Mature miRNA region |
RAB5A | Mature miRNA region |
SLAIN1 | Mature miRNA region |
DPYSL5 | Mature miRNA region |
EP300 | Mature miRNA region |
TES | Mature miRNA region |
NOTCH2 | Mature miRNA region |
SLC35D1 | Mature miRNA region |
DNMT1 | Mature miRNA region |
CNOT4 | Mature miRNA region |
PDE3B | Mature miRNA region |
TOLLIP | Mature miRNA region |
GPATCH8 | Mature miRNA region |
FBXL5 | Mature miRNA region |
BRWD1 | Mature miRNA region |
SH3BP5 | Mature miRNA region |
NDEL1 | Mature miRNA region |
RASSF1 | Mature miRNA region |
PSAP | Mature miRNA region |
HBS1L | Mature miRNA region |
MSANTD4 | Mature miRNA region |
ZNF217 | Mature miRNA region |
PDRG1 | Mature miRNA region |
CHD1 | Mature miRNA region |
AAMP | Mature miRNA region |
RPL36AL | Mature miRNA region |
MAN1C1 | Mature miRNA region |
OGDHL | Mature miRNA region |
RAB1B | Mature miRNA region |
GPATCH2 | Mature miRNA region |
PPP1R12C | Mature miRNA region |
CNOT6 | Mature miRNA region |
PGRMC1 | Mature miRNA region |
PTPN4 | Mature miRNA region |
POGZ | Mature miRNA region |
TGFBR2 | Mature miRNA region |
CLIP1 | Mature miRNA region |
SIX4 | Mature miRNA region |
CLIC4 | Mature miRNA region |
SCAMP2 | Mature miRNA region |
ASB6 | Mature miRNA region |
TAX1BP1 | Mature miRNA region |
HIF1AN | Mature miRNA region |
ZNF202 | Mature miRNA region |
DSTYK | Mature miRNA region |
FYCO1 | Mature miRNA region |
R3HDM4 | Mature miRNA region |
SMYD2 | Mature miRNA region |
ATMIN | Mature miRNA region |
MREG | Mature miRNA region |
FAM210A | Mature miRNA region |
SRSF7 | Mature miRNA region |
C12orf65 | Mature miRNA region |
ADARB1 | Mature miRNA region |
HCCS | Mature miRNA region |
JARID2 | Mature miRNA region |
NR2C2AP | Mature miRNA region |
ASF1B | Mature miRNA region |
NR3C1 | Mature miRNA region |
ACVR1 | Mature miRNA region |
PHF3 | Mature miRNA region |
TNKS1BP1 | Mature miRNA region |
PCDHGB4 | Mature miRNA region |
TNFRSF21 | Mature miRNA region |
EPHA4 | Mature miRNA region |
LDLR | Mature miRNA region |
SFXN5 | Mature miRNA region |
SLC5A3 | Mature miRNA region |
TMEM9B | Mature miRNA region |
KLHL21 | Mature miRNA region |
MFSD6 | Mature miRNA region |
ARCN1 | Mature miRNA region |
RAB12 | Mature miRNA region |
SPATA2 | Mature miRNA region |
PDS5A | Mature miRNA region |
BTBD3 | Mature miRNA region |
CD2AP | Mature miRNA region |
WDR33 | Mature miRNA region |
COX10 | Mature miRNA region |
ICMT | Mature miRNA region |
SSH2 | Mature miRNA region |
MKRN2 | Mature miRNA region |
PTPN11 | Mature miRNA region |
TRIM59 | Mature miRNA region |
COX6B1 | Mature miRNA region |
GOPC | Mature miRNA region |
MYBPC1 | Mature miRNA region |
AHR | Mature miRNA region |
RAP2C | Mature miRNA region |
SGMS1 | Mature miRNA region |
RASSF8 | Mature miRNA region |
MTMR9 | Mature miRNA region |
TOM1L2 | Mature miRNA region |
CPPED1 | Mature miRNA region |
TP53INP1 | Mature miRNA region |
SMCR8 | Mature miRNA region |
GPR137C | Mature miRNA region |
C1orf63 | Mature miRNA region |
MIDN | Mature miRNA region |
TRIP10 | Mature miRNA region |
CNOT2 | Mature miRNA region |
FOXJ3 | Mature miRNA region |
RPRD1B | Mature miRNA region |
POGK | Mature miRNA region |
FBXO28 | Mature miRNA region |
TRIM2 | Mature miRNA region |
STRBP | Mature miRNA region |
GFOD1 | Mature miRNA region |
BAHD1 | Mature miRNA region |
MID1 | Mature miRNA region |
EGR2 | Mature miRNA region |
LBR | Mature miRNA region |
NFIB | Mature miRNA region |
BTBD10 | Mature miRNA region |
DZIP3 | Mature miRNA region |
MACC1 | Mature miRNA region |
EGLN3 | Mature miRNA region |
PTER | Mature miRNA region |
TRPC3 | Mature miRNA region |
FAM72A | Mature miRNA region |
ZCCHC14 | Mature miRNA region |
ZBTB8A | Mature miRNA region |
MT-ND6 | Mature miRNA region |
ANKFY1 | Mature miRNA region |
SGTB | Mature miRNA region |
KLF9 | Mature miRNA region |
TMEM109 | Mature miRNA region |
UBXN2A | Mature miRNA region |
F3 | Mature miRNA region |
MAN1A2 | Mature miRNA region |
PAGR1 | Mature miRNA region |
WEE1 | Mature miRNA region |
PRKAA1 | Mature miRNA region |
ANKRD29 | Mature miRNA region |
IKZF4 | Mature miRNA region |
PPP6R3 | Mature miRNA region |
MID1IP1 | Mature miRNA region |
SOCS4 | Mature miRNA region |
NIN | Mature miRNA region |
KIAA1549 | Mature miRNA region |
TSG101 | Mature miRNA region |
CD164 | Mature miRNA region |
GRAMD1A | Mature miRNA region |
SMAD4 | Mature miRNA region |
SPOPL | Mature miRNA region |
CASP2 | Mature miRNA region |
BRAT1 | Mature miRNA region |
PBXIP1 | Mature miRNA region |
POLD3 | Mature miRNA region |
CBFB | Mature miRNA region |
GRB10 | Mature miRNA region |
RB1 | Mature miRNA region |
FAM129A | Mature miRNA region |
HARS | Mature miRNA region |
CRY2 | Mature miRNA region |
SMIM12 | Mature miRNA region |
CGNL1 | Mature miRNA region |
ANKRD52 | Mature miRNA region |
ASF1A | Mature miRNA region |
MBNL1 | Mature miRNA region |
MPHOSPH9 | Mature miRNA region |
TMEM127 | Mature miRNA region |
CDK19 | Mature miRNA region |
SMG5 | Mature miRNA region |
OTUD4 | Mature miRNA region |
BTG3 | Mature miRNA region |
ZNF264 | Mature miRNA region |
PAPD4 | Mature miRNA region |
FASN | Mature miRNA region |
RPA2 | Mature miRNA region |
TCF4 | Mature miRNA region |
TMEM167A | Mature miRNA region |
VCL | Mature miRNA region |
PAPOLA | Mature miRNA region |
RAB34 | Mature miRNA region |
CDC5L | Mature miRNA region |
ATP6V1C1 | Mature miRNA region |
RNF41 | Mature miRNA region |
DYNLL2 | Mature miRNA region |
PPARG | Mature miRNA region |
PRNP | Mature miRNA region |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs5754467 | chr22:21985094-21985095 | Weak transcription Enhancers Flanking Active TSS | TF binding regionChromatin interactive region | 23 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
2 | rs35844718 | chr22:21985119-21985120 | Weak transcription Enhancers Flanking Active TSS | TF binding regionChromatin interactive region | 23 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
3 | rs183340573 | chr22:21985128-21985129 | Weak transcription Enhancers Flanking Active TSS | TF binding regionChromatin interactive region | 23 gene(s) | Overlapped CNVs | n/a |
4 | rs564574407 | chr22:21985163-21985164 | Weak transcription Enhancers Flanking Active TSS | TF binding regionChromatin interactive region | 23 gene(s) | Overlapped CNVs | n/a |
5 | rs373709329 | chr22:21985175-21985176 | Weak transcription Enhancers Flanking Active TSS | TF binding regionChromatin interactive region | 23 gene(s) | Overlapped CNVs | n/a |
6 | rs73382313 | chr22:21985190-21985191 | Weak transcription Enhancers Flanking Active TSS | TF binding regionChromatin interactive region | 23 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
7 | rs73877636 | chr22:21985223-21985224 | Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS | TF binding regionChromatin interactive region | 23 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
8 | rs546612853 | chr22:21985224-21985225 | Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS | TF binding regionChromatin interactive region | 23 gene(s) | Overlapped CNVs | n/a |
9 | rs566824827 | chr22:21985238-21985239 | Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS | TF binding regionChromatin interactive region | 23 gene(s) | Overlapped CNVs | n/a |
10 | rs538766203 | chr22:21985256-21985257 | Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS | TF binding regionChromatin interactive region | 22 gene(s) | Overlapped CNVs | n/a |
11 | rs185662927 | chr22:21985292-21985293 | Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS | TF binding regionChromatin interactive region | 21 gene(s) | Overlapped CNVs | n/a |
12 | rs569251133 | chr22:21985350-21985351 | Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS | TF binding regionChromatin interactive region | 19 gene(s) | Overlapped CNVs | n/a |
13 | rs138464564 | chr22:21985422-21985423 | Weak transcription Enhancers Strong transcription | TF binding regionChromatin interactive region | 19 gene(s) | Overlapped CNVs | n/a |
14 | rs141444984 | chr22:21985423-21985424 | Weak transcription Enhancers Strong transcription | TF binding regionChromatin interactive region | 19 gene(s) | Overlapped CNVs | n/a |
15 | rs371089715 | chr22:21985427-21985428 | Weak transcription Enhancers Strong transcription | TF binding regionChromatin interactive region | 19 gene(s) | Overlapped CNVs | n/a |
16 | rs77571545 | chr22:21985435-21985436 | Weak transcription Enhancers Strong transcription | TF binding regionCpG islandChromatin interactive region | 19 gene(s) | Overlapped CNVs | n/a |
17 | rs145182280 | chr22:21985436-21985437 | Weak transcription Enhancers Strong transcription | TF binding regionCpG islandChromatin interactive region | 19 gene(s) | Overlapped CNVs | n/a |
18 | rs538977419 | chr22:21985453-21985454 | Weak transcription Enhancers Strong transcription | TF binding regionCpG islandChromatin interactive region | 19 gene(s) | Overlapped CNVs | n/a |
19 | rs56860552 | chr22:21985484-21985485 | Weak transcription Enhancers Strong transcription | TF binding regionCpG islandChromatin interactive region | 19 gene(s) | Overlapped CNVs | n/a |
20 | rs539922019 | chr22:21985496-21985497 | Weak transcription Enhancers Strong transcription | TF binding regionCpG islandChromatin interactive region | 18 gene(s) | Overlapped CNVs | n/a |
21 | rs545478227 | chr22:21985497-21985498 | Weak transcription Enhancers Strong transcription | TF binding regionCpG islandChromatin interactive region | 18 gene(s) | Overlapped CNVs | n/a |
22 | rs562643291 | chr22:21985524-21985525 | Weak transcription Enhancers Strong transcription | TF binding regionCpG islandChromatin interactive region | 18 gene(s) | Overlapped CNVs | n/a |
23 | rs575715837 | chr22:21985549-21985550 | Weak transcription Enhancers Strong transcription | TF binding regionChromatin interactive region | 18 gene(s) | Overlapped CNVs | n/a |
24 | rs541649740 | chr22:21985603-21985604 | Weak transcription Enhancers | TF binding regionChromatin interactive region | 17 gene(s) | Overlapped CNVs | n/a |
25 | rs561518433 | chr22:21985647-21985648 | Weak transcription Enhancers | TF binding regionCpG islandChromatin interactive region | 17 gene(s) | Overlapped CNVs | n/a |
26 | rs527598565 | chr22:21985658-21985659 | Weak transcription Enhancers | TF binding regionCpG islandChromatin interactive region | 17 gene(s) | Overlapped CNVs | n/a |
27 | rs547629883 | chr22:21985715-21985716 | Weak transcription Enhancers | TF binding regionChromatin interactive region | 14 gene(s) | Overlapped CNVs | n/a |
28 | rs560289126 | chr22:21985731-21985732 | Weak transcription Enhancers | TF binding regionChromatin interactive region | 14 gene(s) | Overlapped CNVs | n/a |
29 | rs532588094 | chr22:21985991-21985992 | Weak transcription Enhancers | TF binding regionChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
30 | rs552281761 | chr22:21985996-21985997 | Weak transcription Enhancers | TF binding regionChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
31 | rs112356446 | chr22:21986077-21986078 | Weak transcription Strong transcription Enhancers | TF binding regionChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
32 | rs538322205 | chr22:21986081-21986082 | Weak transcription Strong transcription Enhancers | TF binding regionChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
33 | rs71314787 | chr22:21986085-21986086 | Weak transcription Strong transcription Enhancers | TF binding regionChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
34 | rs548813532 | chr22:21986100-21986101 | Weak transcription Strong transcription Enhancers | TF binding regionChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
35 | rs34592211 | chr22:21986101-21986102 | Weak transcription Strong transcription Enhancers | TF binding regionChromatin interactive region | 8 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
36 | rs534496702 | chr22:21986107-21986108 | Weak transcription Strong transcription Enhancers | TF binding regionChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
37 | rs199671706 | chr22:21986109-21986110 | Weak transcription Strong transcription Enhancers | TF binding regionChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
38 | rs142497978 | chr22:21986110-21986111 | Weak transcription Strong transcription Enhancers | TF binding regionChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
39 | rs374036167 | chr22:21986113-21986114 | Weak transcription Strong transcription Enhancers | TF binding regionChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
40 | rs12628918 | chr22:21986119-21986120 | Weak transcription Strong transcription Enhancers | TF binding regionChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
41 | rs367673542 | chr22:21986122-21986123 | Weak transcription Strong transcription Enhancers | TF binding regionChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
42 | rs550404092 | chr22:21986125-21986126 | Weak transcription Strong transcription Enhancers | TF binding regionChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
43 | rs577458833 | chr22:21986134-21986135 | Weak transcription Strong transcription Enhancers | TF binding regionChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
44 | rs539453587 | chr22:21986139-21986140 | Weak transcription Strong transcription Enhancers | TF binding regionChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
45 | rs555863568 | chr22:21986157-21986158 | Weak transcription Strong transcription Enhancers | TF binding regionChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
46 | rs41279985 | chr22:21986173-21986174 | Weak transcription Strong transcription Enhancers | TF binding regionChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
47 | rs541492100 | chr22:21986178-21986179 | Weak transcription Strong transcription Enhancers | TF binding regionChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
48 | rs369021192 | chr22:21986213-21986214 | Weak transcription Strong transcription Enhancers | TF binding regionChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
49 | rs371885697 | chr22:21986243-21986244 | Weak transcription Strong transcription Enhancers | TF binding regionChromatin interactive region | 8 gene(s) | Overlapped CNVs | n/a |
50 | rs190073020 | chr22:21986250-21986251 | Weak transcription Strong transcription Enhancers | TF binding regionChromatin interactive region | 8 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 |
Cancer | 20164919 | CNVD |
Breast cancer | 22522925 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Chronic myeloid leukemia | 21384125 | CNVD |
Autism | 20841430 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr22:21984400-21986400 | Weak transcription | Primary T cells effector/memory enriched fromperipheralblood | blood |
2 | chr22:21984400-21986600 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
3 | chr22:21984400-21986600 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
4 | chr22:21984400-21986600 | Weak transcription | Primary T helper 17 cells PMA-I stimulated | -- |
5 | chr22:21984400-21986600 | Weak transcription | Placenta | Placenta |
6 | chr22:21984400-21986800 | Weak transcription | Primary T helper naive cells fromperipheralblood | blood |
7 | chr22:21984400-21986800 | Weak transcription | Primary T helper memory cells from peripheral blood 1 | blood |
8 | chr22:21984400-21987000 | Weak transcription | Lung | lung |
9 | chr22:21984400-21987400 | Weak transcription | HMEC | breast |
10 | chr22:21984400-21987600 | Weak transcription | Fetal Stomach | stomach |
11 | chr22:21984400-21989800 | Weak transcription | Right Ventricle | heart |
12 | chr22:21984400-21991000 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
13 | chr22:21984400-21993000 | Weak transcription | Fetal Muscle Leg | muscle |
14 | chr22:21984400-21995200 | Weak transcription | Fetal Intestine Small | intestine |
15 | chr22:21984400-21995600 | Weak transcription | H9 Cell Line | embryonic stem cell |
16 | chr22:21984400-21995600 | Weak transcription | Brain Inferior Temporal Lobe | brain |
17 | chr22:21984400-21995600 | Weak transcription | Esophagus | oesophagus |
18 | chr22:21984400-21995600 | Weak transcription | Gastric | stomach |
19 | chr22:21984400-21995800 | Weak transcription | Spleen | Spleen |
20 | chr22:21984400-21996000 | Weak transcription | Aorta | Aorta |
21 | chr22:21984400-21996200 | Weak transcription | Placenta Amnion | Placenta Amnion |
22 | chr22:21984600-21985200 | Enhancers | Primary T killer memory cells from peripheral blood | blood |
23 | chr22:21984600-21985400 | Enhancers | Rectal Mucosa Donor 29 | rectum |
24 | chr22:21984600-21986400 | Enhancers | Dnd41 | blood |
25 | chr22:21984600-21986600 | Weak transcription | Foreskin Fibroblast Primary Cells skin02 | Skin |
26 | chr22:21984600-21986600 | Weak transcription | Thymus | Thymus |
27 | chr22:21984600-21987200 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
28 | chr22:21984600-21987400 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
29 | chr22:21984600-21991000 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
30 | chr22:21984600-21995200 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
31 | chr22:21984600-21995200 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
32 | chr22:21984600-21995400 | Weak transcription | Brain Cingulate Gyrus | brain |
33 | chr22:21984600-21995600 | Weak transcription | Brain Dorsolateral Prefrontal Cortex | brain |
34 | chr22:21984800-21985400 | Weak transcription | Right Atrium | heart |
35 | chr22:21984800-21985400 | Flanking Active TSS | K562 | blood |
36 | chr22:21984800-21986600 | Weak transcription | Primary T helper cells fromperipheralblood | blood |
37 | chr22:21984800-21986600 | Weak transcription | Fetal Thymus | thymus |
38 | chr22:21984800-21987600 | Weak transcription | NHEK | skin |
39 | chr22:21984800-21995400 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
40 | chr22:21985000-21985800 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
41 | chr22:21985000-21986600 | Weak transcription | Primary T cells fromperipheralblood | blood |
42 | chr22:21985000-21986600 | Weak transcription | Primary T helper memory cells from peripheral blood 2 | blood |
43 | chr22:21985000-21986600 | Weak transcription | Primary Natural Killer cells fromperipheralblood | blood |
44 | chr22:21985000-21986600 | Weak transcription | HepG2 | liver |
45 | chr22:21985000-21986800 | Weak transcription | Primary B cells from peripheral blood | blood |
46 | chr22:21985000-21986800 | Weak transcription | Primary T helper cells PMA-I stimulated | -- |
47 | chr22:21985000-21987000 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
48 | chr22:21985000-21995200 | Weak transcription | GM12878-XiMat | blood |
49 | chr22:21985200-21985400 | Bivalent Enhancer | iPS-15b Cell Line | embryonic stem cell |
50 | chr22:21985200-21986600 | Weak transcription | Primary T killer memory cells from peripheral blood | blood |