Variant report
Variant | nsv535139 |
---|---|
Chromosome Location | chr1:146848141-146930319 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:526)
- CpG islands (count:61)
- Chromatin interactive region (count:43)
- LncRNA region (count:4)
- 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 | chr1:146848855-146850777 | K562 | blood: | n/a | n/a |
2 | ARID3A | chr1:146861769-146862001 | HepG2 | liver: | n/a | n/a |
3 | ARID3A | chr1:146851502-146852003 | K562 | blood: | n/a | n/a |
4 | ATF1 | chr1:146908268-146908309 | K562 | blood: | n/a | n/a |
5 | ATF1 | chr1:146856653-146856731 | K562 | blood: | n/a | n/a |
6 | ATF1 | chr1:146848936-146850093 | K562 | blood: | n/a | n/a |
7 | ATF1 | chr1:146851640-146852020 | K562 | blood: | n/a | n/a |
8 | ATF3 | chr1:146851605-146852038 | K562 | blood: | n/a | n/a |
9 | BACH1 | chr1:146848828-146849217 | K562 | blood: | n/a | n/a |
10 | BHLHE40 | chr1:146848904-146849288 | K562 | blood: | n/a | n/a |
11 | BRCA1 | chr1:146861769-146861997 | Hela-S3 | cervix: | n/a | n/a |
12 | CBX3 | chr1:146849314-146850084 | K562 | blood: | n/a | n/a |
13 | CCNT2 | chr1:146851714-146851966 | K562 | blood: | n/a | n/a |
14 | CCNT2 | chr1:146848949-146850069 | K562 | blood: | n/a | n/a |
15 | CEBPB | chr1:146891745-146891945 | HepG2 | liver: | n/a | n/a |
16 | CEBPB | chr1:146851405-146852071 | K562 | blood: | n/a | chr1:146851508-146851521 chr1:146851510-146851521 |
17 | CEBPB | chr1:146861690-146862028 | Hela-S3 | cervix: | n/a | n/a |
18 | CEBPB | chr1:146851674-146852010 | K562 | blood: | n/a | n/a |
19 | CEBPB | chr1:146849583-146850143 | K562 | blood: | n/a | n/a |
20 | CEBPB | chr1:146861745-146862014 | K562 | blood: | n/a | n/a |
21 | CEBPB | chr1:146851596-146852074 | K562 | blood: | n/a | n/a |
22 | CEBPB | chr1:146849497-146850196 | K562 | blood: | n/a | n/a |
23 | CEBPB | chr1:146849641-146849999 | K562 | blood: | n/a | n/a |
24 | CEBPB | chr1:146891751-146891948 | A549 | lung: | n/a | n/a |
25 | CEBPD | chr1:146851473-146852055 | K562 | blood: | n/a | n/a |
26 | CEBPD | chr1:146849391-146850045 | K562 | blood: | n/a | n/a |
27 | CEBPD | chr1:146851557-146852128 | K562 | blood: | n/a | n/a |
28 | CEBPD | chr1:146849479-146850128 | K562 | blood: | n/a | n/a |
29 | CTCF | chr1:146861700-146861850 | A549 | lung: | n/a | n/a |
30 | CTCF | chr1:146861272-146862146 | SK-N-SH | brain: | n/a | n/a |
31 | CTCF | chr1:146861800-146861950 | GM12873 | blood: | n/a | n/a |
32 | CTCF | chr1:146861721-146861976 | ProgFib | skin: | n/a | n/a |
33 | CTCF | chr1:146861780-146861930 | GM12864 | blood: | n/a | n/a |
34 | CTCF | chr1:146861538-146861577 | A549 | lung: | n/a | n/a |
35 | CTCF | chr1:146861800-146861950 | HEEpiC | esophagus: | n/a | n/a |
36 | CTCF | chr1:146861666-146861981 | SK-N-SH_RA | brain: | n/a | n/a |
37 | CTCF | chr1:146861709-146861981 | Hela-S3 | cervix: | n/a | n/a |
38 | CTCF | chr1:146861780-146861930 | GM12866 | blood: | n/a | n/a |
39 | CTCF | chr1:146861340-146861490 | GM12864 | blood: | n/a | n/a |
40 | CTCF | chr1:146861420-146861570 | GM12867 | blood: | n/a | n/a |
41 | CTCF | chr1:146861589-146862016 | H1-hESC | embryonic stem cell: | n/a | n/a |
42 | CTCF | chr1:146861780-146861930 | GM12868 | blood: | n/a | n/a |
43 | CTCF | chr1:146861780-146861930 | HRE | kidney: | n/a | n/a |
44 | CTCF | chr1:146861837-146861838 | H1-hESC | embryonic stem cell: | n/a | n/a |
45 | CTCF | chr1:146861698-146862007 | Medullo | brain: | n/a | n/a |
46 | CTCF | chr1:146861625-146862010 | T-47D | breast: | n/a | n/a |
47 | CTCF | chr1:146861380-146861530 | SK-N-SH_RA | brain: | n/a | n/a |
48 | CTCF | chr1:146861100-146861250 | HMEC | breast: | n/a | n/a |
49 | CTCF | chr1:146861760-146861910 | SK-N-SH_RA | brain: | n/a | n/a |
50 | CTCF | chr1:146861400-146861550 | AoAF | blood vessel: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:146895247-146895297 | SK-N-MC | brain: | n/a |
2 | chr1:146895247-146895297 | A549 | lung: | n/a |
3 | chr1:146895247-146895297 | HepG2 | liver: | n/a |
4 | chr1:146895247-146895297 | GM06990 | blood: | n/a |
5 | chr1:146895247-146895297 | RPTEC | kidney: | n/a |
6 | chr1:146895247-146895297 | ECC-1 | luminal epithelium: | n/a |
7 | chr1:146895247-146895297 | AoSMC | blood vessel: | n/a |
8 | chr1:146895247-146895297 | Hela-S3 | cervix: | n/a |
9 | chr1:146895247-146895297 | BE2_C | brain: | n/a |
10 | chr1:146895247-146895297 | PrEC | prostate: | n/a |
11 | chr1:146895247-146895297 | GM12891 | blood: | n/a |
12 | chr1:146895247-146895297 | GM12878 | blood: | n/a |
13 | chr1:146895247-146895297 | PFSK-1 | brain: | n/a |
14 | chr1:146895247-146895297 | HMEC | breast: | n/a |
15 | chr1:146895247-146895297 | PANC-1 | pancreas: | n/a |
16 | chr1:146895247-146895297 | SKMC | muscle: | n/a |
17 | chr1:146895247-146895297 | IMR90 | lung: | fetal |
18 | chr1:146895247-146895297 | NT2-D1 | testis: | n/a |
19 | chr1:146895247-146895297 | Jurkat | blood: | n/a |
20 | chr1:146895247-146895297 | H1-hESC | embryonic stem cell: | embryo |
21 | chr1:146895247-146895297 | AG04449 | skin: | fetal |
22 | chr1:146895247-146895297 | NHBE | bronchial: | n/a |
23 | chr1:146895247-146895297 | HRPEpiC | eye: | n/a |
24 | chr1:146895247-146895297 | HEK293 | kidney: | embryo |
25 | chr1:146895247-146895297 | HRE | kidney: | n/a |
26 | chr1:146895247-146895297 | Hepatocyte | liver: | n/a |
27 | chr1:146895247-146895297 | MCF10A-Er-Src | breast: | n/a |
28 | chr1:146895247-146895297 | ovcar-3 | ovarian: | n/a |
29 | chr1:146895247-146895297 | NHDF-neo | bronchial: | n/a |
30 | chr1:146895247-146895297 | SK-N-SH_RA | brain: | n/a |
31 | chr1:146895247-146895297 | HAEpiC | amniotic membrane: | n/a |
32 | chr1:146895247-146895297 | AG09309 | skin: | n/a |
33 | chr1:146895247-146895297 | K562 | blood: | n/a |
34 | chr1:146895247-146895297 | HCM | heart: | n/a |
35 | chr1:146895247-146895297 | HCPEpiC | choroid plexus: | n/a |
36 | chr1:146895247-146895297 | NB4 | blood: | n/a |
37 | chr1:146895247-146895297 | U87 | brain: | n/a |
38 | chr1:146895247-146895297 | HUVEC | blood vessel: | n/a |
39 | chr1:146895247-146895297 | CMK | blood: | n/a |
40 | chr1:146895247-146895297 | HCF | heart: | n/a |
41 | chr1:146895247-146895297 | AG04450 | lung: | fetal |
42 | chr1:146895247-146895297 | HIPEpiC | eye: | n/a |
43 | chr1:146895247-146895297 | HL-60 | blood: | n/a |
44 | chr1:146895247-146895297 | HPAEpiC | pulmonary alveolar: | n/a |
45 | chr1:146895247-146895297 | BJ | skin: | n/a |
46 | chr1:146895247-146895297 | AG09319 | gingival: | n/a |
47 | chr1:146895247-146895297 | HEEpiC | esophagus: | n/a |
48 | chr1:146895247-146895297 | Caco-2 | colon: | n/a |
49 | chr1:146895247-146895297 | MCF-7 | breast: | n/a |
50 | chr1:146895247-146895297 | SK-N-SH | brain: | n/a |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:146851757..146854184-chr1:146855912..146857816,2 | K562 | blood: | |
2 | chr1:146900267..146901994-chr1:146917876..146920490,2 | MCF-7 | breast: | |
3 | chr1:146889760..146891342-chr1:146892775..146894723,2 | K562 | blood: | |
4 | chr1:146744019..146745756-chr1:146860547..146863397,2 | MCF-7 | breast: | |
5 | chr1:146892685..146894306-chr1:146902333..146904733,2 | K562 | blood: | |
6 | chr1:146643870..146644650-chr1:146861592..146862107,2 | MCF-7 | breast: | |
7 | chr1:146904036..146904863-chr6:92344357..92345281,2 | MCF-7 | breast: | |
8 | chr1:146745473..146746108-chr1:146861600..146862389,4 | K562 | blood: | |
9 | chr1:146861647..146862210-chr1:146963967..146964711,2 | MCF-7 | breast: | |
10 | chr1:146849091..146851989-chr1:146881100..146883319,2 | K562 | blood: | |
11 | chr1:146849091..146851989-chr1:146881100..146883319,2 | K562 | blood: | |
12 | chr1:146902569..146904865-chr1:146917610..146920209,2 | MCF-7 | breast: | |
13 | chr1:146903700..146906235-chr1:146908558..146911092,2 | MCF-7 | breast: | |
14 | chr1:146857005..146859244-chr1:146860862..146863182,2 | K562 | blood: | |
15 | chr1:146553543..146556468-chr1:146848913..146851805,2 | K562 | blood: | |
16 | chr1:146919316..146922658-chr1:146922805..146926781,4 | MCF-7 | breast: | |
17 | chr1:146714335..146717266-chr1:146861810..146864638,2 | K562 | blood: | |
18 | chr1:146904930..146907237-chr1:146910258..146912746,2 | MCF-7 | breast: | |
19 | chr1:146902569..146904865-chr1:146917610..146920209,2 | MCF-7 | breast: | |
20 | chr1:146853507..146856418-chr1:146857817..146859989,2 | MCF-7 | breast: | |
21 | chr1:146924006..146926238-chr1:146927310..146929768,2 | K562 | blood: | |
22 | chr1:146886806..146889082-chr1:146891750..146894750,3 | K562 | blood: | |
23 | chr1:146907560..146910519-chr1:146910936..146913596,2 | K562 | blood: | |
24 | chr1:146907560..146910519-chr1:146910936..146913596,2 | K562 | blood: | |
25 | chr1:146841177..146844214-chr1:146848195..146851017,3 | K562 | blood: | |
26 | chr1:146714725..146717432-chr1:146860214..146861781,2 | MCF-7 | breast: | |
27 | chr1:146903700..146906235-chr1:146908558..146911092,2 | MCF-7 | breast: | |
28 | chr1:146857005..146859244-chr1:146860862..146863182,2 | K562 | blood: | |
29 | chr1:146924006..146926238-chr1:146927310..146929768,2 | K562 | blood: | |
30 | chr1:146892606..146894867-chr1:146909100..146911293,2 | MCF-7 | breast: | |
31 | chr1:146900267..146901994-chr1:146917876..146920490,2 | MCF-7 | breast: | |
32 | chr1:146892606..146894867-chr1:146909100..146911293,2 | MCF-7 | breast: | |
33 | chr1:146902129..146904025-chr1:146907523..146909259,2 | MCF-7 | breast: | |
34 | chr1:146904930..146907237-chr1:146910258..146912746,2 | MCF-7 | breast: | |
35 | chr1:146899574..146902487-chr1:146902750..146904367,2 | K562 | blood: | |
36 | chr1:146853507..146856418-chr1:146857817..146859989,2 | MCF-7 | breast: | |
37 | chr1:146851757..146854184-chr1:146855912..146857816,2 | K562 | blood: | |
38 | chr1:146899574..146902487-chr1:146902750..146904367,2 | K562 | blood: | |
39 | chr1:146902129..146904025-chr1:146907523..146909259,2 | MCF-7 | breast: | |
40 | chr1:146745161..146746194-chr1:146861354..146862246,9 | MCF-7 | breast: | |
41 | chr1:146919316..146922658-chr1:146922805..146926781,4 | MCF-7 | breast: | |
42 | chr1:146745103..146745868-chr1:146861342..146862193,4 | MCF-7 | breast: | |
43 | chr1:146892685..146894306-chr1:146902333..146904733,2 | K562 | blood: |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-ACP6-1 | chr1:146856390-146856585 | NONHSAT006008 |
2 | lnc-ACP6-1 | chr1:146880390-146880421 | NONHSAT139896 |
3 | lnc-ACP6-1 | chr1:146853914-146856585 | NONHSAT006032 |
4 | lnc-ACP6-1 | chr1:146880322-146880421 | NONHSAT006008 |
No data |
No data |
Variant related genes | Relation type |
---|---|
OR13Z2P | TF binding region |
OR13Z1P | TF binding region |
ENSG00000207209 | TF binding region |
OR13Z2P | CpG island |
OR13Z1P | CpG island |
ENSG00000207209 | CpG island |
ENSG00000230832 | chromatin interactions |
ENSG00000131791 | chromatin interactions |
ENSG00000226653 | chromatin interactions |
ENSG00000207209 | chromatin interactions |
ENSG00000131781 | chromatin interactions |
ENSG00000237188 | chromatin interactions |
ENSG00000131778 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs11809333 | chr1:146848404-146848405 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs587727197 | chr1:146848442-146848443 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs587628470 | chr1:146848448-146848449 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs587685519 | chr1:146848465-146848466 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs587767608 | chr1:146848477-146848478 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs180773641 | chr1:146848507-146848508 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs587699956 | chr1:146848535-146848536 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs149474797 | chr1:146848544-146848545 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs587654730 | chr1:146848547-146848548 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs587705689 | chr1:146848552-146848553 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs587768698 | chr1:146848581-146848582 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs144355191 | chr1:146848584-146848585 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs587747845 | chr1:146848668-146848669 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs587621271 | chr1:146848741-146848742 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs75896060 | chr1:146848762-146848763 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs1806618 | chr1:146848796-146848797 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
17 | rs141539558 | chr1:146848833-146848834 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
18 | rs587593901 | chr1:146848839-146848840 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
19 | rs186661561 | chr1:146848947-146848948 | Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs189444469 | chr1:146848976-146848977 | Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs116792963 | chr1:146848987-146848988 | Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs181634507 | chr1:146849015-146849016 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs4448568 | chr1:146849017-146849018 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
24 | rs79788286 | chr1:146849103-146849104 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs2883318 | chr1:146849143-146849144 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
26 | rs148344925 | chr1:146849148-146849149 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs34774938 | chr1:146849177-146849178 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs587755294 | chr1:146849226-146849227 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs114278571 | chr1:146849293-146849294 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs142295940 | chr1:146849331-146849332 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs146391184 | chr1:146849341-146849342 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs139737582 | chr1:146849351-146849352 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs144204328 | chr1:146849442-146849443 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs75157403 | chr1:146849505-146849506 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs587658044 | chr1:146849521-146849522 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs587711986 | chr1:146849556-146849557 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs115526122 | chr1:146849604-146849605 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs587666055 | chr1:146849610-146849611 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs1806617 | chr1:146849613-146849614 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
40 | rs377598338 | chr1:146849623-146849624 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs587665269 | chr1:146849673-146849674 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs150608485 | chr1:146849727-146849728 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs587620516 | chr1:146849742-146849743 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs139794522 | chr1:146849774-146849775 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs370688775 | chr1:146849851-146849852 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs587730251 | chr1:146849871-146849872 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs201993470 | chr1:146849880-146849881 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs34009640 | chr1:146849912-146849913 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs587633993 | chr1:146849978-146849979 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs79081931 | chr1:146849986-146849987 | Enhancers Flanking Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Breast cancer | 17603634 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Schizophrenia | 19415332 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Autism | 22495311 | CNVD |
Cancer | 21129771 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Autosomal dominant nocturnal frontal lobe epilepsy | 18472482 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Non-small cell lung cancer | 20864512 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Thrombocytopenia-absent radius syndrome | 21933853 | CNVD |
Psychiatric disorder | 22848183 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Liposarcoma | 21253554 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Melanoma | 18172304 | CNVD |
Breast cancer | 20409316 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 17393978 | CNVD |
Cervical cancer | 21062161 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Cancer | 21183584 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Lung cancer | 18438408 | CNVD |
Rett syndrome | 21593744 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Systemic lupus erythematosus | 21956041 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 17133270 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Cervical cancer | 21063398 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 20632083 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Medulloblastoma | 21292688 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Breast cancer | 21264507 | CNVD |
Multiple myeloma | 21628407 | CNVD |
Cancer | 16751803 | CNVD |
Prostate cancer | 16705090 | CNVD |
Neuroblastoma | 19435921 | CNVD |
Breast cancer | 17850661 | CNVD |
Breast cancer | 16461572 | CNVD |
Intracranial tumor | 16823260 | CNVD |
Medulloblastoma | 18056178 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Neuroblastoma | 21899760 | CNVD |
Breast cancer | 17899364 | CNVD |
Bladder cancer | 19088036 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
Breast cancer | 21858162 | CNVD |
Breast cancer | 21611746 | CNVD |
Retinoblastoma | 19183342 | CNVD |
Breast cancer | 21990379 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Schizophrenia | 22499536 | CNVD |
Schizophrenia | 18923514 | CNVD |
Neuroblastoma | 21124317 | CNVD |
Autism | 20970697 | CNVD |
Bipolar disorder | 19114987 | CNVD |
Epilepsy | 20970697 | CNVD |
Schizophrenia | 22118685 | CNVD |
Schizophrenia | 20587603 | CNVD |
Schizophrenia | 21285140 | CNVD |
Schizophrenia | 20553308 | CNVD |
Schizophrenia | 21956041 | CNVD |
Schizophrenia | 20970697 | CNVD |
Addison''s disease | 21851588 | CNVD |
Heart disease | 22199024 | CNVD |
Mental retardation | 19951919 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Schizophrenia | 21399695 | CNVD |
Prostate cancer | 17217626 | CNVD |
Congenital heart defect | 22199024 | CNVD |
TAR Syndrome | 17847015 | CNVD |
Thrombocytopenia-absent radius syndrome | 17236129 | CNVD |
Autism | 18784092 | CNVD |
Congenital abnormalities | 18784092 | CNVD |
Mental retardation | 18784092 | CNVD |
Schizophrenia | 19855392 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Breast cancer | 16608533 | CNVD |
Ewing''s sarcoma | 22429812 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Autism | 19521722 | CNVD |
Mental retardation | 19521722 | CNVD |
Schizophrenia | 19521646 | CNVD |
Neuroblastoma | 19536264 | CNVD |
Epilepsy | 20923578 | CNVD |
Mental retardation | 17124404 | CNVD |
Schizophrenia | 19348701 | CNVD |
Schizophrenia | 18668039 | CNVD |
Schizophrenia | 19443537 | CNVD |
Schizophrenia | 19571808 | CNVD |
Velocardiofacial syndrome | 19329560 | CNVD |
Autism | 19955444 | CNVD |
Autism | 20964600 | CNVD |
Schizophrenia | 19955444 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Colorectal cancer | 20459617 | CNVD |
Osteosarcoma | 19286668 | CNVD |
Osteosarcoma | 17242211 | CNVD |
Ovarian cancer | 17242211 | CNVD |
Ovine squamous-cell carcinoma | 17599052 | CNVD |
Schizophrenia | 18990708 | CNVD |
Sudden cardiac death | 19188705 | CNVD |
Plasma-cell dyscrasia | 16705089 | CNVD |
Myeloma | 17024118 | CNVD |
Cancer | 17060936 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Type 2 diabetes | 19141583 | CNVD |
Chordoma | 18071362 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 17001317 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Prostate cancer | 18632612 | CNVD |
Follicular lymphoma | 18703704 | CNVD |
Lung adenocarcinoma | 17982442 | CNVD |
Breast cancer | 21509527 | CNVD |
Tetralogy of Fallot | 22912587 | CNVD |
Bladder cancer | 21909424 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Anaplastic thyroid cancer | 18753363 | CNVD |
Lung squamous cell carcinoma | 20842114 | CNVD |
Congenital anomalies of the kidney and urinary tract | 20605837 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 19812545 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Schizophrenia | 20967226 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:146848400-146848800 | Enhancers | K562 | blood |
2 | chr1:146848800-146850800 | Flanking Active TSS | K562 | blood |
3 | chr1:146849000-146850200 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
4 | chr1:146849200-146849600 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
5 | chr1:146849600-146850000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
6 | chr1:146850800-146852200 | Enhancers | K562 | blood |
7 | chr1:146860000-146860800 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
8 | chr1:146860400-146860800 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
9 | chr1:146860400-146861800 | Enhancers | K562 | blood |
10 | chr1:146860600-146861000 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
11 | chr1:146860600-146861200 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
12 | chr1:146860600-146861400 | Enhancers | Placenta Amnion | Placenta Amnion |
13 | chr1:146860800-146862000 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
14 | chr1:146861000-146861200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
15 | chr1:146861200-146861400 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
16 | chr1:146861400-146861600 | Genic enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
17 | chr1:146861400-146861800 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
18 | chr1:146861400-146861800 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
19 | chr1:146861600-146861800 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
20 | chr1:146861600-146862200 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
21 | chr1:146861600-146862200 | Enhancers | HUES6 Cell Line | embryonic stem cell |
22 | chr1:146861600-146862200 | Enhancers | Ganglion Eminence derived primary cultured neurospheres | brain |
23 | chr1:146861800-146874400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
24 | chr1:146862000-146862400 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
25 | chr1:146873800-146874000 | Enhancers | HepG2 | liver |
26 | chr1:146873800-146874200 | Enhancers | Liver | Liver |
27 | chr1:146874000-146874600 | Active TSS | HepG2 | liver |
28 | chr1:146874200-146874600 | Active TSS | Rectal Smooth Muscle | rectum |
29 | chr1:146874200-146874800 | ZNF genes & repeats | HUES6 Cell Line | embryonic stem cell |
30 | chr1:146874200-146875000 | Active TSS | Colonic Mucosa | Colon |
31 | chr1:146874400-146874800 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
32 | chr1:146874400-146875000 | Active TSS | Rectal Mucosa Donor 29 | rectum |
33 | chr1:146885600-146887400 | Enhancers | Liver | Liver |
34 | chr1:146888000-146889600 | Enhancers | Rectal Mucosa Donor 31 | rectum |
35 | chr1:146889600-146890600 | Enhancers | Fetal Intestine Small | intestine |
36 | chr1:146894000-146894600 | Enhancers | K562 | blood |
37 | chr1:146894600-146894800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
38 | chr1:146894600-146894800 | Active TSS | K562 | blood |
39 | chr1:146894800-146895000 | Flanking Active TSS | K562 | blood |
40 | chr1:146894800-146895400 | Active TSS | ES-I3 Cell Line | embryonic stem cell |
41 | chr1:146895000-146895400 | Active TSS | HUES6 Cell Line | embryonic stem cell |
42 | chr1:146895000-146895400 | Active TSS | Rectal Mucosa Donor 31 | rectum |
43 | chr1:146910000-146910600 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
44 | chr1:146918800-146919000 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
45 | chr1:146924400-146925000 | Enhancers | Pancreatic Islets | Pancreatic Islet |