Variant report
Variant | nsv588240 |
---|---|
Chromosome Location | chr22:19950263-19952561 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:274)
- CpG islands (count:0)
- Chromatin interactive region (count:18)
- LncRNA region (count:2)
- Mature miRNA region (count: 2)
- miRNA target sites (count:0)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | BHLHE40 | chr22:19949790-19950276 | K562 | blood: | n/a | n/a |
2 | CBX3 | chr22:19949673-19950367 | K562 | blood: | n/a | n/a |
3 | CEBPB | chr22:19950622-19950878 | IMR90 | lung: | n/a | n/a |
4 | CEBPB | chr22:19950469-19950991 | MCF-7 | breast: | n/a | n/a |
5 | CEBPB | chr22:19950616-19950891 | HepG2 | liver: | n/a | n/a |
6 | CEBPD | chr22:19949868-19950324 | HepG2 | liver: | n/a | n/a |
7 | CEBPD | chr22:19950387-19951078 | HepG2 | liver: | n/a | n/a |
8 | CHD2 | chr22:19951591-19951650 | HepG2 | liver: | n/a | n/a |
9 | CHD2 | chr22:19950513-19950853 | HepG2 | liver: | n/a | n/a |
10 | CHD2 | chr22:19949838-19950390 | H1-hESC | embryonic stem cell: | n/a | n/a |
11 | CHD2 | chr22:19949888-19950281 | HepG2 | liver: | n/a | n/a |
12 | CHD2 | chr22:19951198-19951360 | K562 | blood: | n/a | n/a |
13 | CTCF | chr22:19950460-19950610 | Caco-2 | colon: | n/a | n/a |
14 | CTCF | chr22:19948853-19950499 | SK-N-SH | brain: | n/a | chr22:19949033-19949042 chr22:19949857-19949875 chr22:19949860-19949873 chr22:19949953-19949974 chr22:19949862-19949872 chr22:19949951-19949969 chr22:19949956-19949966 chr22:19949952-19949968 |
15 | CTCF | chr22:19950380-19950530 | K562 | blood: | n/a | n/a |
16 | CTCF | chr22:19949572-19950389 | K562 | blood: | n/a | chr22:19949857-19949875 chr22:19949860-19949873 chr22:19949953-19949974 chr22:19949862-19949872 chr22:19949951-19949969 chr22:19949956-19949966 chr22:19949952-19949968 |
17 | CTCF | chr22:19949575-19950874 | HCT-116 | colon: | n/a | chr22:19949857-19949875 chr22:19949860-19949873 chr22:19949953-19949974 chr22:19949862-19949872 chr22:19949951-19949969 chr22:19949956-19949966 chr22:19949952-19949968 |
18 | CTCF | chr22:19949838-19950380 | T-47D | breast: | n/a | chr22:19949857-19949875 chr22:19949860-19949873 chr22:19949953-19949974 chr22:19949862-19949872 chr22:19949951-19949969 chr22:19949956-19949966 chr22:19949952-19949968 |
19 | CTCF | chr22:19949600-19950276 | K562 | blood: | n/a | chr22:19949857-19949875 chr22:19949860-19949873 chr22:19949953-19949974 chr22:19949862-19949872 chr22:19949951-19949969 chr22:19949956-19949966 chr22:19949952-19949968 |
20 | E2F4 | chr22:19950481-19950838 | MCF10A-Er-Src | breast: | n/a | n/a |
21 | E2F6 | chr22:19949860-19950266 | K562 | blood: | n/a | chr22:19950034-19950046 |
22 | EGR1 | chr22:19950438-19951018 | MCF-7 | breast: | n/a | chr22:19950751-19950758 |
23 | EGR1 | chr22:19950443-19950960 | MCF-7 | breast: | n/a | chr22:19950751-19950758 |
24 | EGR1 | chr22:19950330-19951125 | HCT-116 | colon: | n/a | chr22:19950751-19950758 |
25 | EGR1 | chr22:19951484-19951712 | K562 | blood: | n/a | n/a |
26 | ELF1 | chr22:19949775-19950353 | K562 | blood: | n/a | n/a |
27 | ELF1 | chr22:19950564-19950934 | HepG2 | liver: | n/a | n/a |
28 | ELF1 | chr22:19950040-19951048 | MCF-7 | breast: | n/a | n/a |
29 | EP300 | chr22:19950430-19950871 | T-47D | breast: | n/a | n/a |
30 | EP300 | chr22:19950409-19950951 | T-47D | breast: | n/a | n/a |
31 | EP300 | chr22:19950191-19951517 | ECC-1 | luminal epithelium: | n/a | n/a |
32 | EP300 | chr22:19950371-19950966 | HepG2 | liver: | n/a | n/a |
33 | EP300 | chr22:19950351-19951002 | ECC-1 | luminal epithelium: | n/a | n/a |
34 | EP300 | chr22:19950461-19950940 | MCF-7 | breast: | n/a | n/a |
35 | EP300 | chr22:19950185-19950981 | HepG2 | liver: | n/a | n/a |
36 | ESR1 | chr22:19950439-19950849 | ECC-1 | luminal epithelium: | n/a | n/a |
37 | ESR1 | chr22:19950389-19950822 | ECC-1 | luminal epithelium: | n/a | n/a |
38 | ETS1 | chr22:19949766-19950434 | K562 | blood: | n/a | n/a |
39 | FOS | chr22:19950588-19950849 | MCF10A-Er-Src | breast: | n/a | chr22:19950712-19950722 chr22:19950656-19950665 chr22:19950713-19950721 |
40 | FOS | chr22:19950588-19950897 | MCF10A-Er-Src | breast: | n/a | chr22:19950712-19950722 chr22:19950656-19950665 chr22:19950713-19950721 |
41 | FOS | chr22:19950562-19950850 | MCF10A-Er-Src | breast: | n/a | chr22:19950712-19950722 chr22:19950656-19950665 chr22:19950713-19950721 |
42 | FOS | chr22:19950567-19950874 | MCF10A-Er-Src | breast: | n/a | chr22:19950712-19950722 chr22:19950656-19950665 chr22:19950713-19950721 |
43 | FOSL2 | chr22:19950398-19951054 | MCF-7 | breast: | n/a | chr22:19950712-19950722 chr22:19950656-19950665 chr22:19950713-19950721 chr22:19950710-19950721 |
44 | FOSL2 | chr22:19950395-19951024 | HepG2 | liver: | n/a | chr22:19950712-19950722 chr22:19950656-19950665 chr22:19950713-19950721 chr22:19950710-19950721 |
45 | FOSL2 | chr22:19949763-19951268 | HepG2 | liver: | n/a | chr22:19950712-19950722 chr22:19950656-19950665 chr22:19950713-19950721 chr22:19950710-19950721 chr22:19949992-19950003 |
46 | FOSL2 | chr22:19950416-19951063 | MCF-7 | breast: | n/a | chr22:19950712-19950722 chr22:19950656-19950665 chr22:19950713-19950721 chr22:19950710-19950721 |
47 | FOXA1 | chr22:19950511-19950842 | T-47D | breast: | n/a | n/a |
48 | GABPA | chr22:19950459-19951000 | MCF-7 | breast: | n/a | n/a |
49 | GABPA | chr22:19950233-19951029 | MCF-7 | breast: | n/a | n/a |
50 | GABPA | chr22:19949575-19950322 | K562 | blood: | n/a | n/a |
No data |
(count:18 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr22:19951752..19953768-chr22:19965167..19968722,3 | MCF-7 | breast: | |
2 | chr22:19949033..19951647-chr22:20098299..20100530,2 | MCF-7 | breast: | |
3 | chr22:19950626..19952131-chr22:20093018..20094756,2 | MCF-7 | breast: | |
4 | chr22:19949253..19952166-chr22:20002856..20005634,4 | MCF-7 | breast: | |
5 | chr22:19949091..19952379-chr22:20006726..20010380,7 | MCF-7 | breast: | |
6 | chr22:19949957..19952527-chr22:20104300..20107708,4 | MCF-7 | breast: | |
7 | chr22:19949111..19952325-chr22:20065927..20070108,7 | MCF-7 | breast: | |
8 | chr22:19925525..19930852-chr22:19949824..19952379,6 | MCF-7 | breast: | |
9 | chr22:19949905..19952952-chr22:20101075..20104073,4 | MCF-7 | breast: | |
10 | chr22:19949698..19952305-chr22:20066573..20069050,2 | MCF-7 | breast: | |
11 | chr22:19949168..19953639-chr22:20103294..20106027,5 | MCF-7 | breast: | |
12 | chr22:19948711..19950726-chr22:19968438..19972312,3 | MCF-7 | breast: | |
13 | chr22:19950336..19950868-chr22:20116504..20117409,2 | K562 | blood: | |
14 | chr22:19951450..19953196-chr22:20114793..20116954,2 | MCF-7 | breast: | |
15 | chr22:19951061..19955042-chr22:19971204..19974681,3 | MCF-7 | breast: | |
16 | chr22:19952344..19955333-chr22:20231471..20234892,3 | K562 | blood: | |
17 | chr22:19949124..19952670-chr22:20007168..20012246,7 | MCF-7 | breast: | |
18 | chr22:19948794..19952521-chr22:20017014..20020703,6 | MCF-7 | breast: |
(count:2 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-C22orf25-3 | chr22:19951692-19951714 | NONHSAT083437 |
2 | lnc-C22orf25-3 | chr22:19951209-19951282 | NONHSAT083437 |
miRNA name | Chromosome Location | mirBase accession |
---|---|---|
hsa-miR-4761-5p | chr22:19951278-19951298 | MIMAT0019908 |
hsa-miR-4761-3p | chr22:19951337-19951357 | MIMAT0019909 |
No data |
Variant related genes | Relation type |
---|---|
COMT | TF binding region |
MIR4761 | TF binding region |
ENSG00000208023 | chromatin interactions |
ENSG00000099889 | chromatin interactions |
ENSG00000128191 | chromatin interactions |
ENSG00000099901 | chromatin interactions |
ENSG00000184470 | chromatin interactions |
ENSG00000093010 | chromatin interactions |
ENSG00000099904 | chromatin interactions |
ENSG00000183597 | chromatin interactions |
ENSG00000243762 | chromatin interactions |
ENSG00000099899 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs6267 | chr22:19950263-19950264 | Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
2 | rs740602 | chr22:19950268-19950269 | Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
3 | rs148620887 | chr22:19950296-19950297 | Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
4 | rs552979711 | chr22:19950298-19950299 | Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
5 | rs199690157 | chr22:19950299-19950300 | Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
6 | rs191204865 | chr22:19950310-19950311 | Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
7 | rs373611092 | chr22:19950317-19950318 | Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
8 | rs13306281 | chr22:19950323-19950324 | Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
9 | rs76452330 | chr22:19950329-19950330 | Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
10 | rs528311784 | chr22:19950330-19950331 | Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
11 | rs3218737 | chr22:19950347-19950348 | Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionChromatin interactive region | 12 gene(s) | Overlapped CNVs | n/a |
12 | rs373404261 | chr22:19950348-19950349 | Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionChromatin interactive region | 12 gene(s) | Overlapped CNVs | n/a |
13 | rs544846648 | chr22:19950355-19950356 | Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionChromatin interactive region | 12 gene(s) | Overlapped CNVs | n/a |
14 | rs377574270 | chr22:19950369-19950370 | Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionChromatin interactive region | 12 gene(s) | Overlapped CNVs | n/a |
15 | rs386819748 | chr22:19950378-19950379 | Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionChromatin interactive region | 12 gene(s) | Overlapped CNVs | n/a |
16 | rs34819182 | chr22:19950391-19950392 | Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionChromatin interactive region | 12 gene(s) | Overlapped CNVs | n/a |
17 | rs561449386 | chr22:19950409-19950410 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 12 gene(s) | Overlapped CNVs | n/a |
18 | rs530456300 | chr22:19950422-19950423 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 12 gene(s) | Overlapped CNVs | n/a |
19 | rs2239393 | chr22:19950428-19950429 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 12 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
20 | rs560540203 | chr22:19950456-19950457 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 12 gene(s) | Overlapped CNVs | n/a |
21 | rs34234839 | chr22:19950504-19950505 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 12 gene(s) | Overlapped CNVs | n/a |
22 | rs552664785 | chr22:19950515-19950516 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 12 gene(s) | Overlapped CNVs | n/a |
23 | rs75972414 | chr22:19950555-19950556 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 12 gene(s) | Overlapped CNVs | n/a |
24 | rs569283361 | chr22:19950577-19950578 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 12 gene(s) | Overlapped CNVs | n/a |
25 | rs531678754 | chr22:19950616-19950617 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 12 gene(s) | Overlapped CNVs | n/a |
26 | rs550403035 | chr22:19950619-19950620 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 12 gene(s) | Overlapped CNVs | n/a |
27 | rs567122533 | chr22:19950659-19950660 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 12 gene(s) | Overlapped CNVs | n/a |
28 | rs9332364 | chr22:19950666-19950667 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 12 gene(s) | Overlapped CNVs | n/a |
29 | rs115954975 | chr22:19950692-19950693 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 12 gene(s) | Overlapped CNVs | n/a |
30 | rs552952129 | chr22:19950702-19950703 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 12 gene(s) | Overlapped CNVs | n/a |
31 | rs566477390 | chr22:19950709-19950710 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 12 gene(s) | Overlapped CNVs | n/a |
32 | rs9332365 | chr22:19950710-19950711 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 12 gene(s) | Overlapped CNVs | n/a |
33 | rs181950583 | chr22:19950723-19950724 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 12 gene(s) | Overlapped CNVs | n/a |
34 | rs740601 | chr22:19950763-19950764 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 12 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
35 | rs555247050 | chr22:19950784-19950785 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 12 gene(s) | Overlapped CNVs | n/a |
36 | rs575036605 | chr22:19950836-19950837 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 12 gene(s) | Overlapped CNVs | n/a |
37 | rs9332366 | chr22:19950875-19950876 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
38 | rs560597340 | chr22:19950877-19950878 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
39 | rs532822625 | chr22:19950910-19950911 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
40 | rs8140835 | chr22:19950917-19950918 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
41 | rs562533906 | chr22:19950931-19950932 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
42 | rs531738788 | chr22:19950940-19950941 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
43 | rs548231559 | chr22:19950956-19950957 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
44 | rs4646313 | chr22:19951009-19951010 | Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 11 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
45 | rs4646314 | chr22:19951014-19951015 | Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
46 | rs548260944 | chr22:19951024-19951025 | Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
47 | rs372065112 | chr22:19951057-19951058 | Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
48 | rs368878365 | chr22:19951070-19951071 | Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
49 | rs199590736 | chr22:19951071-19951072 | Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive region | 11 gene(s) | Overlapped CNVs | n/a |
50 | rs77825904 | chr22:19951085-19951086 | Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription 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 | 22102821 | CNVD |
Autism | 22495311 | CNVD |
Lung cancer | 18438408 | CNVD |
Myelofibrosis | 22110671 | 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 |
Acute lymphoblastic leukemia | 19100363 | 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 | 17142309 | CNVD |
Acute lymphoblastic leukemia | 21248843 | 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 |
Gastric cancer | 22591714 | CNVD |
Autism | 22958593 | CNVD |
Digeorge syndrome | 16199537 | CNVD |
Schizophrenia | 22958593 | CNVD |
Schizophrenia | 21285140 | CNVD |
Schizophrenia | 22241247 | CNVD |
Autism | 22241247 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 18628472 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Schizophrenia | 21399695 | CNVD |
22q11.21 microdeletion syndrome | 19193630 | 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 |
Autism | 18522746 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Schizophrenia | 18511947 | 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 |
Esophageal cancer | 21851588 | CNVD |
22q11.2 deletion syndrome | 22563040 | CNVD |
Lung adenocarcinoma | 17982442 | CNVD |
cardiac septal defect | 19239688 | 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 |
Schizophrenia | 20967226 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Recurrent pregnancy loss | 19789632 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr22:19931400-19954200 | Weak transcription | Primary T cells effector/memory enriched fromperipheralblood | blood |
2 | chr22:19931400-19955200 | Weak transcription | Primary T regulatory cells fromperipheralblood | blood |
3 | chr22:19931800-19956800 | Weak transcription | Small Intestine | intestine |
4 | chr22:19939400-19950600 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
5 | chr22:19945000-19958400 | Strong transcription | Primary hematopoietic stem cells short term culture | blood |
6 | chr22:19946400-19951800 | Enhancers | Placenta Amnion | Placenta Amnion |
7 | chr22:19946400-19952400 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
8 | chr22:19946800-19951600 | Weak transcription | Aorta | Aorta |
9 | chr22:19947000-19950600 | Enhancers | Skeletal Muscle Female | skeletal muscle |
10 | chr22:19947000-19951200 | Weak transcription | HSMMtube | muscle |
11 | chr22:19947000-19951400 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
12 | chr22:19947400-19950800 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
13 | chr22:19947400-19951000 | Enhancers | Pancreas | Pancrea |
14 | chr22:19947600-19951600 | Weak transcription | Fetal Brain Male | brain |
15 | chr22:19947800-19951400 | Weak transcription | A549 | lung |
16 | chr22:19947800-19956000 | Weak transcription | Primary B cells from cord blood | blood |
17 | chr22:19948000-19950800 | Genic enhancers | Fetal Muscle Trunk | muscle |
18 | chr22:19948000-19951400 | Weak transcription | Primary T killer memory cells from peripheral blood | blood |
19 | chr22:19948000-19954400 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
20 | chr22:19948200-19951200 | Weak transcription | Primary hematopoietic stem cells | blood |
21 | chr22:19948200-19951600 | Genic enhancers | Fetal Adrenal Gland | Adrenal Gland |
22 | chr22:19948200-19954200 | Strong transcription | Spleen | Spleen |
23 | chr22:19948200-19957800 | Strong transcription | Primary monocytes fromperipheralblood | blood |
24 | chr22:19948200-19958200 | Strong transcription | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
25 | chr22:19948200-19959000 | Strong transcription | Dnd41 | blood |
26 | chr22:19948400-19951600 | Weak transcription | Fetal Kidney | kidney |
27 | chr22:19948400-19951600 | Genic enhancers | Fetal Muscle Leg | muscle |
28 | chr22:19948400-19953400 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
29 | chr22:19948400-19957200 | Strong transcription | Monocytes-CD14+_RO01746 | blood |
30 | chr22:19948400-19967800 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
31 | chr22:19948600-19950800 | Genic enhancers | Foreskin Melanocyte Primary Cells skin01 | Skin |
32 | chr22:19948800-19950400 | Genic enhancers | Adipose Nuclei | Adipose |
33 | chr22:19948800-19950400 | Genic enhancers | K562 | blood |
34 | chr22:19948800-19951200 | Genic enhancers | Lung | lung |
35 | chr22:19948800-19957600 | Weak transcription | Right Atrium | heart |
36 | chr22:19949000-19950400 | Enhancers | Right Ventricle | heart |
37 | chr22:19949000-19952800 | Strong transcription | Fetal Brain Female | brain |
38 | chr22:19949200-19951400 | Weak transcription | Primary T cells from cord blood | blood |
39 | chr22:19949400-19957800 | Strong transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
40 | chr22:19949600-19950600 | Enhancers | Fetal Heart | heart |
41 | chr22:19949600-19950600 | Enhancers | HSMM | muscle |
42 | chr22:19949600-19950800 | Enhancers | Ganglion Eminence derived primary cultured neurospheres | brain |
43 | chr22:19949600-19951000 | Enhancers | Gastric | stomach |
44 | chr22:19949600-19951200 | Weak transcription | Primary B cells from peripheral blood | blood |
45 | chr22:19949600-19951400 | Genic enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
46 | chr22:19949600-19952000 | Enhancers | H1 Cell Line | embryonic stem cell |
47 | chr22:19949600-19952200 | Transcr. at gene 5' and 3' | Foreskin Fibroblast Primary Cells skin02 | Skin |
48 | chr22:19949600-19954400 | Genic enhancers | Brain Germinal Matrix | brain |
49 | chr22:19949600-19962000 | Weak transcription | GM12878-XiMat | blood |
50 | chr22:19949800-19950400 | Genic enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |