Variant report
Variant | esv3380983 |
---|---|
Chromosome Location | chr22:22089102-22091350 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:378)
- CpG islands (count:794)
- Chromatin interactive region (count:23)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | ARID3A | chr22:22090153-22090405 | K562 | blood: | n/a | n/a |
2 | ARID3A | chr22:22089256-22089896 | K562 | blood: | n/a | n/a |
3 | ATF2 | chr22:22090399-22090648 | H1-hESC | embryonic stem cell: | n/a | n/a |
4 | ATF3 | chr22:22089508-22090939 | K562 | blood: | n/a | chr22:22090324-22090333 |
5 | BACH1 | chr22:22090700-22090772 | K562 | blood: | n/a | n/a |
6 | BACH1 | chr22:22089779-22090921 | H1-hESC | embryonic stem cell: | n/a | n/a |
7 | BCLAF1 | chr22:22089690-22090197 | GM12878 | blood: | n/a | n/a |
8 | BCLAF1 | chr22:22089050-22090609 | K562 | blood: | n/a | n/a |
9 | BHLHE40 | chr22:22089524-22090574 | GM12878 | blood: | n/a | chr22:22089778-22089794 chr22:22089867-22089883 chr22:22089875-22089891 |
10 | BHLHE40 | chr22:22090244-22090320 | A549 | lung: | n/a | n/a |
11 | BHLHE40 | chr22:22089259-22090839 | K562 | blood: | n/a | chr22:22089778-22089794 chr22:22089867-22089883 chr22:22089875-22089891 |
12 | BHLHE40 | chr22:22089816-22090512 | HepG2 | liver: | n/a | chr22:22089867-22089883 chr22:22089875-22089891 |
13 | BHLHE40 | chr22:22090182-22090389 | HepG2 | liver: | n/a | n/a |
14 | CBX3 | chr22:22088685-22091621 | K562 | blood: | n/a | n/a |
15 | CBX3 | chr22:22089254-22090916 | K562 | blood: | n/a | n/a |
16 | CCNT2 | chr22:22089241-22090907 | K562 | blood: | n/a | n/a |
17 | CEBPB | chr22:22089233-22089568 | H1-hESC | embryonic stem cell: | n/a | chr22:22089396-22089409 |
18 | CEBPB | chr22:22090591-22090593 | H1-hESC | embryonic stem cell: | n/a | n/a |
19 | CEBPB | chr22:22089248-22089579 | K562 | blood: | n/a | chr22:22089396-22089409 |
20 | CEBPB | chr22:22089858-22090058 | H1-hESC | embryonic stem cell: | n/a | n/a |
21 | CHD1 | chr22:22089877-22090069 | H1-hESC | embryonic stem cell: | n/a | n/a |
22 | CHD1 | chr22:22089313-22090064 | GM12878 | blood: | n/a | chr22:22089650-22089660 chr22:22089778-22089788 |
23 | CHD1 | chr22:22090559-22090640 | H1-hESC | embryonic stem cell: | n/a | n/a |
24 | CHD2 | chr22:22090172-22090220 | HepG2 | liver: | n/a | n/a |
25 | CHD2 | chr22:22089917-22090480 | Hela-S3 | cervix: | n/a | n/a |
26 | CHD2 | chr22:22089940-22090765 | H1-hESC | embryonic stem cell: | n/a | n/a |
27 | CHD2 | chr22:22089769-22090778 | K562 | blood: | n/a | chr22:22089778-22089788 |
28 | CHD2 | chr22:22089963-22090363 | GM12878 | blood: | n/a | n/a |
29 | CREB1 | chr22:22089742-22090528 | A549 | lung: | n/a | n/a |
30 | CTCF | chr22:22089557-22091139 | K562 | blood: | n/a | chr22:22090855-22090868 |
31 | CTCF | chr22:22090340-22090490 | SK-N-SH_RA | brain: | n/a | n/a |
32 | CTCF | chr22:22090157-22090276 | Spleen_OC | spleen: | n/a | n/a |
33 | CTCF | chr22:22090400-22090550 | K562 | blood: | n/a | n/a |
34 | CTCF | chr22:22089500-22089650 | GM12872 | blood: | n/a | n/a |
35 | CTCF | chr22:22089633-22090730 | K562 | blood: | n/a | n/a |
36 | CTCFL | chr22:22089709-22090773 | K562 | blood: | n/a | n/a |
37 | CTCFL | chr22:22089731-22089948 | K562 | blood: | n/a | n/a |
38 | CUX1 | chr22:22089332-22089654 | K562 | blood: | n/a | n/a |
39 | E2F4 | chr22:22089474-22090461 | MCF10A-Er-Src | breast: | n/a | chr22:22089628-22089640 chr22:22090132-22090141 chr22:22090125-22090135 chr22:22089788-22089797 |
40 | E2F4 | chr22:22089641-22090835 | K562 | blood: | n/a | chr22:22090132-22090141 chr22:22090125-22090135 chr22:22090458-22090467 chr22:22089788-22089797 |
41 | E2F6 | chr22:22089755-22090821 | Hela-S3 | cervix: | n/a | chr22:22090132-22090141 chr22:22090125-22090135 chr22:22090458-22090467 chr22:22089788-22089797 |
42 | E2F6 | chr22:22089802-22090971 | H1-hESC | embryonic stem cell: | n/a | chr22:22090132-22090141 chr22:22090125-22090135 chr22:22090458-22090467 |
43 | E2F6 | chr22:22089364-22090730 | K562 | blood: | n/a | chr22:22089628-22089640 chr22:22090132-22090141 chr22:22090125-22090135 chr22:22090458-22090467 chr22:22089788-22089797 |
44 | E2F6 | chr22:22089909-22090567 | A549 | lung: | n/a | chr22:22090132-22090141 chr22:22090125-22090135 chr22:22090458-22090467 |
45 | E2F6 | chr22:22089738-22090844 | A549 | lung: | n/a | chr22:22090132-22090141 chr22:22090125-22090135 chr22:22090458-22090467 chr22:22089788-22089797 |
46 | E2F6 | chr22:22089534-22090925 | K562 | blood: | n/a | chr22:22089628-22089640 chr22:22090132-22090141 chr22:22090125-22090135 chr22:22090458-22090467 chr22:22089788-22089797 |
47 | E2F6 | chr22:22089265-22090941 | K562 | blood: | n/a | chr22:22089628-22089640 chr22:22090132-22090141 chr22:22090125-22090135 chr22:22090458-22090467 chr22:22089788-22089797 |
48 | E2F6 | chr22:22089811-22090846 | H1-hESC | embryonic stem cell: | n/a | chr22:22090132-22090141 chr22:22090125-22090135 chr22:22090458-22090467 |
49 | EBF1 | chr22:22090082-22090418 | GM12878 | blood: | n/a | n/a |
50 | EGR1 | chr22:22089645-22089904 | GM12878 | blood: | n/a | chr22:22089788-22089798 chr22:22089783-22089796 chr22:22089771-22089781 |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr22:22090486-22090536 | SKMC | muscle: | n/a |
2 | chr22:22090486-22090536 | SKMC | muscle: | n/a |
3 | chr22:22089752-22089802 | SK-N-MC | brain: | n/a |
4 | chr22:22089417-22089467 | HAEpiC | amniotic membrane: | n/a |
5 | chr22:22090124-22090174 | HMEC | breast: | n/a |
6 | chr22:22089752-22089802 | GM12891 | blood: | n/a |
7 | chr22:22090066-22090116 | AG04450 | lung: | fetal |
8 | chr22:22089827-22089877 | HEEpiC | esophagus: | n/a |
9 | chr22:22090804-22090854 | GM19239 | blood: | n/a |
10 | chr22:22089417-22089467 | HPAEpiC | pulmonary alveolar: | n/a |
11 | chr22:22090816-22090866 | AoSMC | blood vessel: | n/a |
12 | chr22:22089752-22089802 | HPAEpiC | pulmonary alveolar: | n/a |
13 | chr22:22089368-22089418 | NT2-D1 | testis: | n/a |
14 | chr22:22089827-22089877 | AG04449 | skin: | fetal |
15 | chr22:22090486-22090536 | NB4 | blood: | n/a |
16 | chr22:22090129-22090179 | NHBE | bronchial: | n/a |
17 | chr22:22089368-22089418 | HCPEpiC | choroid plexus: | n/a |
18 | chr22:22089368-22089418 | SAEC | small airway: | n/a |
19 | chr22:22089417-22089467 | GM12892 | blood: | n/a |
20 | chr22:22089827-22089877 | PrEC | prostate: | n/a |
21 | chr22:22090066-22090116 | AG10803 | skin: | n/a |
22 | chr22:22090124-22090174 | CMK | blood: | n/a |
23 | chr22:22090066-22090116 | HRPEpiC | eye: | n/a |
24 | chr22:22090486-22090536 | K562 | blood: | n/a |
25 | chr22:22090486-22090536 | HUVEC | blood vessel: | n/a |
26 | chr22:22089368-22089418 | HUVEC | blood vessel: | n/a |
27 | chr22:22090486-22090536 | BE2_C | brain: | n/a |
28 | chr22:22090124-22090174 | H1-hESC | embryonic stem cell: | embryo |
29 | chr22:22090124-22090174 | AG09319 | gingival: | n/a |
30 | chr22:22089827-22089877 | K562 | blood: | n/a |
31 | chr22:22090129-22090179 | BJ | skin: | n/a |
32 | chr22:22089827-22089877 | PFSK-1 | brain: | n/a |
33 | chr22:22089417-22089467 | AG09319 | gingival: | n/a |
34 | chr22:22090129-22090179 | NH-A | brain: | n/a |
35 | chr22:22090124-22090174 | AG04450 | lung: | fetal |
36 | chr22:22090066-22090116 | HRCEpiC | kidney: | n/a |
37 | chr22:22090124-22090174 | ovcar-3 | ovarian: | n/a |
38 | chr22:22090804-22090854 | HUVEC | blood vessel: | n/a |
39 | chr22:22090796-22090846 | NH-A | brain: | n/a |
40 | chr22:22090486-22090536 | Hela-S3 | cervix: | n/a |
41 | chr22:22090796-22090846 | NHBE | bronchial: | n/a |
42 | chr22:22090124-22090174 | HCF | heart: | n/a |
43 | chr22:22090126-22090176 | T-47D | breast: | n/a |
44 | chr22:22089417-22089467 | SK-N-SH_RA | brain: | n/a |
45 | chr22:22090066-22090116 | AG09319 | gingival: | n/a |
46 | chr22:22090132-22090182 | GM12891 | blood: | n/a |
47 | chr22:22089417-22089467 | HCT-116 | colon: | n/a |
48 | chr22:22090486-22090536 | ProgFib | skin: | n/a |
49 | chr22:22090796-22090846 | HRE | kidney: | n/a |
50 | chr22:22090126-22090176 | GM12878 | blood: | n/a |
(count:23 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr22:22088241..22089939-chr22:22093963..22096125,2 | MCF-7 | breast: | |
2 | chr22:22088545..22090754-chr22:22292290..22294479,2 | MCF-7 | breast: | |
3 | chr22:22090286..22091894-chr22:22213594..22215383,2 | K562 | blood: | |
4 | chr22:22087956..22092439-chr22:22291559..22296073,7 | K562 | blood: | |
5 | chr22:22089770..22090272-chr3:42622964..42623955,2 | Hela-S3 | cervix: | |
6 | chr22:22089192..22091927-chr22:22279825..22282512,2 | K562 | blood: | |
7 | chr22:21983948..21987333-chr22:22088191..22091412,3 | K562 | blood: | |
8 | chr22:22088558..22091426-chr22:22293514..22295248,2 | K562 | blood: | |
9 | chr22:22090180..22091326-chr22:22292264..22293608,4 | K562 | blood: | |
10 | chr22:21979975..21982573-chr22:22086401..22089371,3 | K562 | blood: | |
11 | chr13:30996131..30996911-chr22:22089691..22090343,2 | HCT-116 | colon: | |
12 | chr22:22089287..22091003-chr22:22220400..22222429,2 | MCF-7 | breast: | |
13 | chr22:22076308..22077911-chr22:22088836..22091303,2 | MCF-7 | breast: | |
14 | chr22:22090396..22092560-chr22:22305855..22308907,4 | K562 | blood: | |
15 | chr22:22019700..22022032-chr22:22088092..22090057,3 | MCF-7 | breast: | |
16 | chr22:22004165..22007450-chr22:22088545..22091929,3 | K562 | blood: | |
17 | chr22:22089106..22092560-chr22:22306070..22309716,3 | K562 | blood: | |
18 | chr22:22019023..22020752-chr22:22089369..22093678,3 | K562 | blood: | |
19 | chr22:22088248..22091848-chr22:22218236..22223530,12 | K562 | blood: | |
20 | chr22:22026397..22028078-chr22:22088852..22091514,2 | MCF-7 | breast: | |
21 | chr22:22088248..22093129-chr22:22216287..22223699,14 | K562 | blood: | |
22 | chr22:21995824..21997937-chr22:22089395..22092110,2 | MCF-7 | breast: | |
23 | chr22:22088723..22091421-chr22:22896178..22899037,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
YPEL1 | TF binding region |
YPEL1 | CpG island |
ENSG00000100030 | chromatin interactions |
ENSG00000161179 | chromatin interactions |
ENSG00000100023 | chromatin interactions |
ENSG00000212102 | chromatin interactions |
ENSG00000100034 | chromatin interactions |
ENSG00000185686 | chromatin interactions |
ENSG00000244671 | chromatin interactions |
ENSG00000008324 | chromatin interactions |
ENSG00000161180 | chromatin interactions |
ENSG00000128228 | chromatin interactions |
ENSG00000224086 | chromatin interactions |
ENSG00000225039 | chromatin interactions |
ENSG00000093183 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs139212782 | chr22:22089205-22089206 | Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription | Chromatin interactive region | 9 gene(s) | Overlapped CNVs | n/a |
2 | rs377051339 | chr22:22089234-22089235 | Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription | Chromatin interactive region | 9 gene(s) | Overlapped CNVs | n/a |
3 | rs182352531 | chr22:22089261-22089262 | Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription | Chromatin interactive region | 9 gene(s) | Overlapped CNVs | n/a |
4 | rs549375669 | chr22:22089322-22089323 | Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription | Chromatin interactive region | 9 gene(s) | Overlapped CNVs | n/a |
5 | rs566111992 | chr22:22089326-22089327 | Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription | Chromatin interactive region | 9 gene(s) | Overlapped CNVs | n/a |
6 | rs144061235 | chr22:22089360-22089361 | Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription | Chromatin interactive region | 9 gene(s) | Overlapped CNVs | n/a |
7 | rs146114582 | chr22:22089367-22089368 | Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription | Chromatin interactive region | 9 gene(s) | Overlapped CNVs | n/a |
8 | rs533182562 | chr22:22089368-22089369 | Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription | Chromatin interactive region | 9 gene(s) | Overlapped CNVs | n/a |
9 | rs550115669 | chr22:22089376-22089377 | Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription | Chromatin interactive region | 9 gene(s) | Overlapped CNVs | n/a |
10 | rs570073303 | chr22:22089435-22089436 | Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh | Chromatin interactive region | 10 gene(s) | Overlapped CNVs | n/a |
11 | rs529417905 | chr22:22089449-22089450 | Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh | Chromatin interactive region | 10 gene(s) | Overlapped CNVs | n/a |
12 | rs549050303 | chr22:22089506-22089507 | Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh | Chromatin interactive region | 10 gene(s) | Overlapped CNVs | n/a |
13 | rs375829286 | chr22:22089584-22089585 | Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh | Chromatin interactive region | 10 gene(s) | Overlapped CNVs | n/a |
14 | rs369684791 | chr22:22089643-22089644 | Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh | Chromatin interactive region | 10 gene(s) | Overlapped CNVs | n/a |
15 | rs73149926 | chr22:22089650-22089651 | Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh | Chromatin interactive region | 10 gene(s) | Overlapped CNVs | n/a |
16 | rs565973330 | chr22:22089660-22089661 | Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh | Chromatin interactive region | 10 gene(s) | Overlapped CNVs | n/a |
17 | rs534884092 | chr22:22089685-22089686 | Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh | Chromatin interactive region | 10 gene(s) | Overlapped CNVs | n/a |
18 | rs188009987 | chr22:22089703-22089704 | Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh | Chromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
19 | rs558195365 | chr22:22089729-22089730 | Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh | Chromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
20 | rs551607888 | chr22:22089754-22089755 | Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh | Chromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
21 | rs570580113 | chr22:22089772-22089773 | Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh | Chromatin interactive region | 13 gene(s) | Overlapped CNVs | n/a |
22 | rs571866435 | chr22:22089777-22089778 | Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh | Chromatin interactive region | 13 gene(s) | Overlapped CNVs | n/a |
23 | rs536662168 | chr22:22089795-22089796 | Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh | Chromatin interactive region | 13 gene(s) | Overlapped CNVs | n/a |
24 | rs139967375 | chr22:22089856-22089857 | Bivalent/Poised TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS | Chromatin interactive region | 13 gene(s) | Overlapped CNVs | n/a |
25 | rs556885197 | chr22:22089904-22089905 | Bivalent/Poised TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS | Chromatin interactive region | 13 gene(s) | Overlapped CNVs | n/a |
26 | rs573533346 | chr22:22090132-22090133 | Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 14 gene(s) | Overlapped CNVs | n/a |
27 | rs542788045 | chr22:22090187-22090188 | Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 14 gene(s) | Overlapped CNVs | n/a |
28 | rs553103779 | chr22:22090237-22090238 | Bivalent/Poised TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 14 gene(s) | Overlapped CNVs | n/a |
29 | rs55690117 | chr22:22090262-22090263 | Bivalent/Poised TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 14 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
30 | rs545185818 | chr22:22090293-22090294 | Bivalent/Poised TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 12 gene(s) | Overlapped CNVs | n/a |
31 | rs565049514 | chr22:22090307-22090308 | Bivalent/Poised TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 12 gene(s) | Overlapped CNVs | n/a |
32 | rs530806050 | chr22:22090335-22090336 | Bivalent/Poised TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 12 gene(s) | Overlapped CNVs | n/a |
33 | rs544157201 | chr22:22090398-22090399 | Bivalent/Poised TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
34 | rs563734885 | chr22:22090402-22090403 | Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
35 | rs529240249 | chr22:22090404-22090405 | Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
36 | rs549111818 | chr22:22090420-22090421 | Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
37 | rs71314794 | chr22:22090428-22090429 | Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 11 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
38 | rs528668819 | chr22:22090450-22090451 | Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
39 | rs551522981 | chr22:22090452-22090453 | Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
40 | rs145360046 | chr22:22090472-22090473 | Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
41 | rs575931229 | chr22:22090538-22090539 | Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
42 | rs76625068 | chr22:22090557-22090558 | Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
43 | rs145870639 | chr22:22090568-22090569 | Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
44 | rs567303170 | chr22:22090583-22090584 | Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
45 | rs536209525 | chr22:22090587-22090588 | Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
46 | rs553115942 | chr22:22090607-22090608 | Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
47 | rs370121048 | chr22:22090614-22090615 | Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
48 | rs372511316 | chr22:22090630-22090631 | Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
49 | rs112640972 | chr22:22090649-22090650 | Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
50 | rs558745123 | chr22:22090700-22090701 | Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 11 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 |
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 |
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 |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr22:22083000-22089400 | Weak transcription | Lung | lung |
2 | chr22:22088000-22089400 | Flanking Active TSS | Fetal Brain Female | brain |
3 | chr22:22088000-22089400 | Flanking Active TSS | Dnd41 | blood |
4 | chr22:22088200-22089200 | Flanking Active TSS | H9 Derived Neuron Cultured Cells | ES cell derived |
5 | chr22:22088200-22089200 | Enhancers | Psoas Muscle | Psoas |
6 | chr22:22088600-22089200 | Flanking Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
7 | chr22:22088600-22089200 | Flanking Active TSS | Fetal Brain Male | brain |
8 | chr22:22088600-22089400 | Enhancers | Placenta Amnion | Placenta Amnion |
9 | chr22:22088600-22089400 | Flanking Active TSS | Thymus | Thymus |
10 | chr22:22088600-22089600 | Flanking Active TSS | Fetal Heart | heart |
11 | chr22:22088600-22089800 | Flanking Active TSS | Primary B cells from cord blood | blood |
12 | chr22:22088600-22089800 | Flanking Active TSS | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
13 | chr22:22088800-22089200 | Flanking Bivalent TSS/Enh | H1 Cell Line | embryonic stem cell |
14 | chr22:22088800-22089200 | Flanking Bivalent TSS/Enh | H9 Cell Line | embryonic stem cell |
15 | chr22:22088800-22089200 | Flanking Active TSS | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
16 | chr22:22088800-22089200 | Flanking Active TSS | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
17 | chr22:22088800-22089200 | Flanking Bivalent TSS/Enh | HUES6 Cell Line | embryonic stem cell |
18 | chr22:22088800-22089200 | Flanking Bivalent TSS/Enh | iPS-15b Cell Line | embryonic stem cell |
19 | chr22:22088800-22089200 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
20 | chr22:22088800-22089200 | Enhancers | Primary monocytes fromperipheralblood | blood |
21 | chr22:22088800-22089200 | Enhancers | Primary T helper 17 cells PMA-I stimulated | -- |
22 | chr22:22088800-22089200 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
23 | chr22:22088800-22089200 | Enhancers | Aorta | Aorta |
24 | chr22:22088800-22089200 | Flanking Active TSS | Brain Angular Gyrus | brain |
25 | chr22:22088800-22089200 | Flanking Active TSS | Brain Germinal Matrix | brain |
26 | chr22:22088800-22089200 | Enhancers | Colon Smooth Muscle | Colon |
27 | chr22:22088800-22089200 | Enhancers | Esophagus | oesophagus |
28 | chr22:22088800-22089200 | Flanking Active TSS | Fetal Kidney | kidney |
29 | chr22:22088800-22089200 | Flanking Active TSS | Fetal Muscle Trunk | muscle |
30 | chr22:22088800-22089200 | Flanking Bivalent TSS/Enh | HUVEC | blood vessel |
31 | chr22:22088800-22089200 | Bivalent Enhancer | NHEK | skin |
32 | chr22:22088800-22089400 | Flanking Bivalent TSS/Enh | iPS-18 Cell Line | embryonic stem cell |
33 | chr22:22088800-22089400 | Flanking Active TSS | Primary Natural Killer cells fromperipheralblood | blood |
34 | chr22:22088800-22089400 | Flanking Active TSS | Ganglion Eminence derived primary cultured neurospheres | brain |
35 | chr22:22088800-22089400 | Flanking Active TSS | Brain Inferior Temporal Lobe | brain |
36 | chr22:22088800-22089400 | Enhancers | Gastric | stomach |
37 | chr22:22088800-22089400 | Enhancers | Pancreas | Pancrea |
38 | chr22:22088800-22089400 | Enhancers | Right Ventricle | heart |
39 | chr22:22088800-22089400 | Flanking Active TSS | Skeletal Muscle Female | skeletal muscle |
40 | chr22:22088800-22089400 | Enhancers | Small Intestine | intestine |
41 | chr22:22088800-22089400 | Flanking Active TSS | Stomach Smooth Muscle | stomach |
42 | chr22:22088800-22089400 | Flanking Active TSS | HSMMtube | muscle |
43 | chr22:22088800-22089600 | Flanking Active TSS | Primary B cells from peripheral blood | blood |
44 | chr22:22088800-22089600 | Flanking Active TSS | Cortex derived primary cultured neurospheres | brain |
45 | chr22:22088800-22089600 | Flanking Active TSS | Brain Cingulate Gyrus | brain |
46 | chr22:22088800-22089600 | Flanking Active TSS | Brain Dorsolateral Prefrontal Cortex | brain |
47 | chr22:22088800-22089600 | Flanking Active TSS | Rectal Mucosa Donor 29 | rectum |
48 | chr22:22088800-22089600 | Flanking Active TSS | Skeletal Muscle Male | skeletal muscle |
49 | chr22:22088800-22089600 | Enhancers | Spleen | Spleen |
50 | chr22:22088800-22089800 | Flanking Active TSS | Primary T cells fromperipheralblood | blood |