Variant report
Variant | nsv1028934 |
---|---|
Chromosome Location | chr4:188452245-189130052 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:2766)
- CpG islands (count:6042)
- Chromatin interactive region (count:33)
- LncRNA region (count:97)
- 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 | chr4:188527707-188527965 | HepG2 | liver: | n/a | n/a |
2 | ATF1 | chr4:189002649-189002842 | K562 | blood: | n/a | n/a |
3 | ATF1 | chr4:188538300-188538599 | K562 | blood: | n/a | n/a |
4 | ATF1 | chr4:188735920-188736251 | K562 | blood: | n/a | n/a |
5 | ATF2 | chr4:188915055-188915396 | H1-hESC | embryonic stem cell: | n/a | n/a |
6 | ATF2 | chr4:189028935-189029785 | H1-hESC | embryonic stem cell: | n/a | n/a |
7 | ATF2 | chr4:188916764-188917071 | H1-hESC | embryonic stem cell: | n/a | n/a |
8 | ATF2 | chr4:188916749-188917170 | H1-hESC | embryonic stem cell: | n/a | n/a |
9 | ATF2 | chr4:188926433-188926974 | H1-hESC | embryonic stem cell: | n/a | n/a |
10 | ATF2 | chr4:189029405-189029911 | H1-hESC | embryonic stem cell: | n/a | n/a |
11 | ATF2 | chr4:188953244-188953886 | H1-hESC | embryonic stem cell: | n/a | n/a |
12 | ATF2 | chr4:188917657-188917951 | H1-hESC | embryonic stem cell: | n/a | n/a |
13 | ATF2 | chr4:188850148-188850549 | H1-hESC | embryonic stem cell: | n/a | n/a |
14 | ATF3 | chr4:189032216-189032636 | A549 | lung: | n/a | n/a |
15 | ATF3 | chr4:188527774-188527903 | K562 | blood: | n/a | n/a |
16 | BACH1 | chr4:188936288-188936488 | H1-hESC | embryonic stem cell: | n/a | n/a |
17 | BACH1 | chr4:188964645-188964695 | H1-hESC | embryonic stem cell: | n/a | n/a |
18 | BACH1 | chr4:188952989-188953975 | H1-hESC | embryonic stem cell: | n/a | n/a |
19 | BACH1 | chr4:188916526-188917174 | H1-hESC | embryonic stem cell: | n/a | n/a |
20 | BATF | chr4:188989551-188989709 | GM12878 | blood: | n/a | n/a |
21 | BATF | chr4:188896133-188896354 | GM12878 | blood: | n/a | chr4:188896272-188896283 |
22 | BCL11A | chr4:188953306-188953649 | H1-hESC | embryonic stem cell: | n/a | n/a |
23 | BCL3 | chr4:189127903-189128290 | GM12878 | blood: | n/a | n/a |
24 | BCL3 | chr4:189075864-189076604 | A549 | lung: | n/a | n/a |
25 | BCL3 | chr4:189127827-189128410 | GM12878 | blood: | n/a | n/a |
26 | BCL3 | chr4:189032156-189032852 | A549 | lung: | n/a | chr4:189032779-189032788 chr4:189032795-189032804 |
27 | BHLHE40 | chr4:188527838-188527964 | K562 | blood: | n/a | n/a |
28 | BHLHE40 | chr4:189032318-189032600 | A549 | lung: | n/a | n/a |
29 | BHLHE40 | chr4:188533400-188533687 | K562 | blood: | n/a | n/a |
30 | BHLHE40 | chr4:189080825-189081237 | K562 | blood: | n/a | n/a |
31 | BHLHE40 | chr4:188534744-188534930 | K562 | blood: | n/a | n/a |
32 | BHLHE40 | chr4:188519650-188519830 | GM12878 | blood: | n/a | n/a |
33 | BHLHE40 | chr4:189065854-189066041 | K562 | blood: | n/a | n/a |
34 | BHLHE40 | chr4:188929455-188929456 | HepG2 | liver: | n/a | n/a |
35 | BHLHE40 | chr4:188538740-188538867 | K562 | blood: | n/a | n/a |
36 | BHLHE40 | chr4:188923505-188923772 | K562 | blood: | n/a | n/a |
37 | BRCA1 | chr4:188936021-188936859 | Hela-S3 | cervix: | n/a | n/a |
38 | BRCA1 | chr4:189031951-189032705 | Hela-S3 | cervix: | n/a | n/a |
39 | BRCA1 | chr4:188917816-188917938 | H1-hESC | embryonic stem cell: | n/a | n/a |
40 | BRCA1 | chr4:188570315-188570361 | GM12878 | blood: | n/a | n/a |
41 | BRCA1 | chr4:189030619-189031448 | Hela-S3 | cervix: | n/a | n/a |
42 | BRCA1 | chr4:188909297-188909449 | Hela-S3 | cervix: | n/a | n/a |
43 | BRCA1 | chr4:188923496-188923905 | Hela-S3 | cervix: | n/a | n/a |
44 | BRCA1 | chr4:189080642-189081261 | Hela-S3 | cervix: | n/a | n/a |
45 | CBX3 | chr4:189032628-189033133 | HCT-116 | colon: | n/a | n/a |
46 | CBX3 | chr4:188660869-188661415 | HCT-116 | colon: | n/a | n/a |
47 | CBX3 | chr4:189048248-189049169 | HCT-116 | colon: | n/a | n/a |
48 | CBX3 | chr4:189080707-189081140 | K562 | blood: | n/a | n/a |
49 | CBX3 | chr4:189048292-189049092 | HCT-116 | colon: | n/a | n/a |
50 | CBX3 | chr4:188507537-188508612 | HCT-116 | colon: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr4:189081246-189081296 | U87 | brain: | n/a |
2 | chr4:188924612-188924662 | HL-60 | blood: | n/a |
3 | chr4:189059677-189059727 | GM12892 | blood: | n/a |
4 | chr4:189081246-189081296 | U87 | brain: | n/a |
5 | chr4:188924612-188924662 | HL-60 | blood: | n/a |
6 | chr4:189059677-189059727 | GM12892 | blood: | n/a |
7 | chr4:189026682-189026732 | U87 | brain: | n/a |
8 | chr4:188917173-188917223 | U87 | brain: | n/a |
9 | chr4:189060041-189060091 | SK-N-SH | brain: | n/a |
10 | chr4:189061030-189061080 | SAEC | small airway: | n/a |
11 | chr4:188534912-188534962 | CMK | blood: | n/a |
12 | chr4:188917251-188917301 | NH-A | brain: | n/a |
13 | chr4:189082752-189082802 | Hela-S3 | cervix: | n/a |
14 | chr4:189029280-189029330 | HIPEpiC | eye: | n/a |
15 | chr4:188534912-188534962 | HEEpiC | esophagus: | n/a |
16 | chr4:188916581-188916631 | SK-N-SH_RA | brain: | n/a |
17 | chr4:189082752-189082802 | MCF-7 | breast: | n/a |
18 | chr4:189024495-189024545 | PrEC | prostate: | n/a |
19 | chr4:189060041-189060091 | LNCaP | prostate: | n/a |
20 | chr4:188916709-188916759 | HepG2 | liver: | n/a |
21 | chr4:188916943-188916993 | SK-N-SH_RA | brain: | n/a |
22 | chr4:188916867-188916917 | ovcar-3 | ovarian: | n/a |
23 | chr4:189059510-189059560 | RPTEC | kidney: | n/a |
24 | chr4:189084795-189084845 | AG09309 | skin: | n/a |
25 | chr4:189065399-189065449 | SK-N-SH | brain: | n/a |
26 | chr4:188736172-188736222 | GM12892 | blood: | n/a |
27 | chr4:188918072-188918122 | SK-N-MC | brain: | n/a |
28 | chr4:188533158-188533208 | AG04450 | lung: | fetal |
29 | chr4:189080784-189080834 | HCT-116 | colon: | n/a |
30 | chr4:188858709-188858759 | HNPCEpiC | eye: | n/a |
31 | chr4:188824073-188824123 | GM06990 | blood: | n/a |
32 | chr4:188533158-188533208 | HPAEpiC | pulmonary alveolar: | n/a |
33 | chr4:188916943-188916993 | GM06990 | blood: | n/a |
34 | chr4:189061157-189061207 | HRE | kidney: | n/a |
35 | chr4:189061030-189061080 | HRCEpiC | kidney: | n/a |
36 | chr4:188916668-188916718 | SK-N-SH | brain: | n/a |
37 | chr4:188924752-188924802 | HUVEC | blood vessel: | n/a |
38 | chr4:188534873-188534923 | AG04450 | lung: | fetal |
39 | chr4:188953906-188953956 | HEEpiC | esophagus: | n/a |
40 | chr4:189042690-189042740 | HRPEpiC | eye: | n/a |
41 | chr4:188539183-188539233 | T-47D | breast: | n/a |
42 | chr4:188736172-188736222 | HL-60 | blood: | n/a |
43 | chr4:188916943-188916993 | ovcar-3 | ovarian: | n/a |
44 | chr4:188533158-188533208 | NH-A | brain: | n/a |
45 | chr4:188858709-188858759 | HEK293 | kidney: | embryo |
46 | chr4:188918218-188918268 | GM12892 | blood: | n/a |
47 | chr4:189060900-189060950 | GM12891 | blood: | n/a |
48 | chr4:188916724-188916774 | HepG2 | liver: | n/a |
49 | chr4:188917251-188917301 | HEEpiC | esophagus: | n/a |
50 | chr4:188953969-188954019 | GM19239 | blood: | n/a |
(count:33 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr4:188527681..188530400-chr4:188530916..188532601,2 | K562 | blood: | |
2 | chr2:190420060..190420825-chr4:189116929..189117774,2 | MCF-7 | breast: | |
3 | chr4:188914709..188915626-chr4:189293756..189294718,5 | MCF-7 | breast: | |
4 | chr4:188587219..188588049-chr4:189293834..189294448,2 | MCF-7 | breast: | |
5 | chr4:189064505..189066850-chr4:189068631..189070476,2 | K562 | blood: | |
6 | chr4:188908545..188911160-chr4:188914079..188916849,2 | K562 | blood: | |
7 | chr4:188955745..188958212-chr4:188967134..188969834,2 | K562 | blood: | |
8 | chr4:189099993..189102001-chr4:189104898..189106800,2 | MCF-7 | breast: | |
9 | chr4:188959730..188961356-chr4:188968354..188971076,2 | MCF-7 | breast: | |
10 | chr4:188955745..188958212-chr4:188967134..188969834,2 | K562 | blood: | |
11 | chr4:188914704..188915349-chr4:188923417..188923946,2 | MCF-7 | breast: | |
12 | chr4:188936272..188938284-chr4:188943091..188945323,2 | MCF-7 | breast: | |
13 | chr4:188807826..188808346-chr6:74078319..74078839,2 | MCF-7 | breast: | |
14 | chr4:188527128..188528286-chr4:189293970..189294660,4 | MCF-7 | breast: | |
15 | chr4:188527681..188530400-chr4:188530916..188532601,2 | K562 | blood: | |
16 | chr4:188914704..188915349-chr4:188923417..188923946,2 | MCF-7 | breast: | |
17 | chr4:188959730..188961356-chr4:188968354..188971076,2 | MCF-7 | breast: | |
18 | chr1:171180730..171183096-chr4:189101938..189104230,2 | MCF-7 | breast: | |
19 | chr1:149223872..149224384-chr4:188652498..188652998,2 | MCF-7 | breast: | |
20 | chr1:149223786..149225310-chr4:188651498..188652998,2 | MCF-7 | breast: | |
21 | chr1:149223042..149224634-chr4:188652998..188654518,2 | MCF-7 | breast: | |
22 | chr4:189039532..189042082-chr4:189115720..189117330,2 | MCF-7 | breast: | |
23 | chr4:188914670..188915671-chr4:189167438..189168869,4 | MCF-7 | breast: | |
24 | chr4:188908545..188911160-chr4:188914079..188916849,2 | K562 | blood: | |
25 | chr4:189099993..189102001-chr4:189104898..189106800,2 | MCF-7 | breast: | |
26 | chr4:188867496..188869174-chr4:188872429..188875179,2 | MCF-7 | breast: | |
27 | chr4:189039532..189042082-chr4:189115720..189117330,2 | MCF-7 | breast: | |
28 | chr1:149223776..149224611-chr4:188652518..188653518,3 | MCF-7 | breast: | |
29 | chr4:188936272..188938284-chr4:188943091..188945323,2 | MCF-7 | breast: | |
30 | chr4:188914697..188915636-chr4:189293778..189294511,3 | MCF-7 | breast: | |
31 | chr4:188867496..188869174-chr4:188872429..188875179,2 | MCF-7 | breast: | |
32 | chr4:188638802..188641142-chr4:188661839..188664453,2 | K562 | blood: | |
33 | chr4:188638802..188641142-chr4:188661839..188664453,2 | K562 | blood: |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-TRIML2-4 | chr4:188476215-188476298 | ENSG00000250590 |
2 | lnc-ZFP42-9 | chr4:188779825-188780051 | l_2821_chr4:188771633-188780051_testes |
3 | lnc-TRIML1-1 | chr4:189081370-189081486 | XLOC_003832 |
4 | lnc-TRIML2-3 | chr4:188534640-188534713 | XLOC_004221 |
5 | lnc-TRIML1-1 | chr4:189081370-189081939 | XLOC_003832 |
6 | lnc-ZFP42-2 | chr4:188534919-188535153 | XLOC_003829 |
7 | lnc-ZFP42-10 | chr4:188501769-188501890 | NONHSAT099705 |
8 | lnc-TRIML2-4 | chr4:188476930-188477058 | ENSG00000250590 |
9 | lnc-ZFP42-2 | chr4:188542831-188543333 | XLOC_003829 |
10 | lnc-ZFP42-8 | chr4:188869892-188870239 | l_2822_chr4:188790794-188818331_testes |
11 | lnc-TRIML2-9 | chr4:188716229-188716412 | l_2820_chr4:188691027-188804581_testes |
12 | lnc-TRIML2-4 | chr4:188454036-188454357 | ENSG00000250590 |
13 | lnc-TRIML2-4 | chr4:188478901-188479074 | ENSG00000250590 |
14 | lnc-ZFP42-8 | chr4:188808721-188808809 | l_2822_chr4:188790794-188818331_testes |
15 | lnc-ZFP42-8 | chr4:188818285-188818331 | l_2822_chr4:188790794-188818331_testes |
16 | lnc-ZFP42-1 | chr4:188735822-188736272 | NONHSAT099722 |
17 | lnc-ZFP42-8 | chr4:188863112-188863571 | l_2822_chr4:188790794-188818331_testes |
18 | lnc-TRIML1-1 | chr4:189081181-189081273 | XLOC_003832 |
19 | lnc-TRIML2-4 | chr4:188476930-188477103 | ENSG00000250590 |
20 | lnc-ZFP42-2 | chr4:188647752-188647874 | NONHSAT099717 |
21 | lnc-TRIML1-1 | chr4:189080968-189081273 | XLOC_003832 |
22 | lnc-TRIML1-1 | chr4:189081655-189082222 | XLOC_003832 |
23 | lnc-ZFP42-8 | chr4:188790795-188791294 | l_2822_chr4:188790794-188818331_testes |
24 | lnc-ZFP42-2 | chr4:188626118-188626433 | XLOC_003829 |
25 | lnc-FAT1-6 | chr4:189030397-189030757 | NONHSAT099728 |
26 | lnc-TRIML1-2 | chr4:189096293-189096511 | XLOC_003833 |
27 | lnc-TRIML2-4 | chr4:188586916-188586992 | ENSG00000250590 |
28 | lnc-ZFP42-2 | chr4:188543796-188543894 | XLOC_003829 |
29 | lnc-ZFP42-2 | chr4:188626207-188626577 | NONHSAT099719 |
30 | lnc-ZFP42-1 | chr4:188789601-188789707 | XLOC_003831 |
31 | lnc-TRIML2-4 | chr4:188514038-188514081 | ENSG00000250590 |
32 | lnc-ZFP42-2 | chr4:188554100-188554300 | XLOC_003829 |
33 | lnc-TRIML2-4 | chr4:188567364-188567526 | NONHSAT099704 |
34 | lnc-ZFP42-2 | chr4:188626207-188626577 | NONHSAT099720 |
35 | lnc-TRIML2-4 | chr4:188479391-188479418 | NONHSAT099704 |
36 | lnc-ZFP42-2 | chr4:188571621-188571815 | XLOC_003829 |
37 | lnc-TRIML2-2 | chr4:188913836-188914027 | NONHSAT099725 |
38 | lnc-ZFP42-2 | chr4:188543796-188543871 | XLOC_003829 |
39 | lnc-ZFP42-10 | chr4:188493477-188493987 | NONHSAT099705 |
40 | lnc-TRIML2-9 | chr4:188691028-188691351 | l_2820_chr4:188691027-188804581_testes |
41 | lnc-ZFP42-2 | chr4:188635490-188635540 | NONHSAT099719 |
42 | lnc-TRIML2-2 | chr4:188908697-188908733 | NONHSAT099726 |
43 | lnc-ZFP42-2 | chr4:188581291-188581521 | XLOC_003829 |
44 | lnc-ZFP42-9 | chr4:188771634-188772147 | l_2821_chr4:188771633-188780051_testes |
45 | lnc-TRIML2-4 | chr4:188513797-188514081 | NONHSAT099706 |
46 | lnc-TRIML1-1 | chr4:189081219-189081256 | XLOC_003832 |
47 | lnc-TRIML2-4 | chr4:188593716-188593795 | NR_110436 |
48 | lnc-TRIML1-1 | chr4:189080623-189082424 | NONHSAT099732 |
49 | lnc-TRIML1-7 | chr4:189027712-189028068 | NONHSAT099729 |
50 | lnc-TRIML2-2 | chr4:188881466-188881649 | NONHSAT099725 |
No data |
No data |
Variant related genes | Relation type |
---|---|
TRIML2 | TF binding region |
ZFP42 | TF binding region |
ENSG00000248370 | TF binding region |
RNU6-173P | TF binding region |
ADAM20P3 | TF binding region |
ENSG00000249642 | TF binding region |
ENSG00000250590 | TF binding region |
ENSG00000247130 | TF binding region |
ENSG00000241011 | TF binding region |
ENSG00000213331 | TF binding region |
TRIML1 | TF binding region |
TRIML2 | CpG island |
ZFP42 | CpG island |
ENSG00000248370 | CpG island |
RNU6-173P | CpG island |
ADAM20P3 | CpG island |
ENSG00000249642 | CpG island |
ENSG00000250590 | CpG island |
ENSG00000247130 | CpG island |
ENSG00000241011 | CpG island |
ENSG00000213331 | CpG island |
TRIML1 | CpG island |
ENSG00000184108 | chromatin interactions |
ENSG00000206737 | chromatin interactions |
ENSG00000247130 | chromatin interactions |
SSH1 | miRNA target sites |
FSCN1 | miRNA target sites |
MCL1 | miRNA target sites |
KLF12 | miRNA target sites |
PHF6 | miRNA target sites |
MED20 | miRNA target sites |
TIMP3 | miRNA target sites |
KIF13B | miRNA target sites |
NDP | miRNA target sites |
SSH2 | miRNA target sites |
CDC42 | miRNA target sites |
TAGLN2 | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs538299388 | chr4:188454038-188454039 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
2 | rs10027327 | chr4:188454090-188454091 | Enhancers | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
3 | rs139176125 | chr4:188454112-188454113 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
4 | rs184443651 | chr4:188454197-188454198 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
5 | rs149960286 | chr4:188454203-188454204 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
6 | rs558620757 | chr4:188454223-188454224 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
7 | rs550349623 | chr4:188454234-188454235 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
8 | rs543119390 | chr4:188454252-188454253 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
9 | rs370527224 | chr4:188454345-188454346 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
10 | rs4346700 | chr4:188454347-188454348 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
11 | rs537829786 | chr4:188454371-188454372 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs35998444 | chr4:188454401-188454402 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs397792671 | chr4:188454410-188454411 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs146529994 | chr4:188454490-188454491 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs141005983 | chr4:188454506-188454507 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs540482315 | chr4:188454551-188454552 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs144808489 | chr4:188454675-188454676 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs189330841 | chr4:188454700-188454701 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs368171820 | chr4:188454704-188454705 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs180809880 | chr4:188454706-188454707 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs539214976 | chr4:188454717-188454718 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs185005568 | chr4:188454803-188454804 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs35193254 | chr4:188454810-188454811 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs188667494 | chr4:188454817-188454818 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs541780127 | chr4:188454856-188454857 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs561850453 | chr4:188454887-188454888 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs62354911 | chr4:188454895-188454896 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs527540141 | chr4:188454896-188454897 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs146690706 | chr4:188454971-188454972 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs573784811 | chr4:188454996-188454997 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs572384674 | chr4:188455086-188455087 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs371734274 | chr4:188455102-188455103 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs148856116 | chr4:188455103-188455104 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs143420628 | chr4:188455110-188455111 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs181733307 | chr4:188455111-188455112 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs537866842 | chr4:188455120-188455121 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs371806674 | chr4:188455181-188455182 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs2174493 | chr4:188455197-188455198 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
39 | rs115556996 | chr4:188455208-188455209 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs534557861 | chr4:188455256-188455257 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs554161126 | chr4:188455296-188455297 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs147983525 | chr4:188455359-188455360 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs540015941 | chr4:188455369-188455370 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs556314465 | chr4:188455384-188455385 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs5865047 | chr4:188455395-188455396 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs397721113 | chr4:188455404-188455405 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs576170978 | chr4:188455406-188455407 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs2376277 | chr4:188455411-188455412 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
49 | rs2036590 | chr4:188455415-188455416 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
50 | rs571940416 | chr4:188455423-188455424 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Acute lymphoblastic leukemia | 22237106 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Chordoma | 21602918 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Breast cancer | 21858162 | CNVD |
Small bowel adenocarcinoma | 21586687 | CNVD |
Gastric cancer | 21586687 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Medulloblastoma | 18056178 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
4q-syndrome | 17576883 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Muscular dystrophy | 21149563 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Liposarcoma | 21253554 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Cervical cancer | 21062161 | CNVD |
Breast cancer | 16608533 | CNVD |
Wilms tumour | 21544195 | CNVD |
Lung cancer | 18438408 | CNVD |
Cancer | 22429812 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Breast cancer | 16272173 | CNVD |
Breast cancer | 17133270 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Congenital anomalies of the kidney and urinary tract | 20505237 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
Breast cancer | 21785460 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
small cell lung cancer | 20016488 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Breast cancer | 21633010 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Cancer | 20581869 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
abnormal development | 18461090 | CNVD |
Neuroblastoma | 16790693 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Congenital anomalies of the kidney and urinary tract | 18316590 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Facioscapulohumeral muscular dystrophy | 21829175 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Autism | 18414403 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Cancer | 20164920 | CNVD |
Cancer | 20164919 | CNVD |
Breast cancer | 20409316 | CNVD |
Rhabdomyosarcoma | 16790082 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Schizophrenia | 21399695 | CNVD |
Developmental delay | 22127048 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Cervical cancer | 21063398 | CNVD |
Autism | 20808228 | CNVD |
Cognitive impairment | 21505072 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Bipolar disorder | 19114987 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Tetralogy of Fallot | 22912587 | CNVD |
Epilepsy | 21635232 | CNVD |
Schizophrenia | 23813976 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:188454000-188454200 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
2 | chr4:188454200-188455200 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
3 | chr4:188454600-188456200 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
4 | chr4:188455000-188455800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
5 | chr4:188455000-188455800 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
6 | chr4:188455000-188456200 | Enhancers | HUES48 Cell Line | embryonic stem cell |
7 | chr4:188455200-188456000 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
8 | chr4:188462000-188462600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
9 | chr4:188462000-188462800 | Enhancers | HUES48 Cell Line | embryonic stem cell |
10 | chr4:188462200-188462600 | Enhancers | HUES64 Cell Line | embryonic stem cell |
11 | chr4:188462200-188462600 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
12 | chr4:188462200-188463600 | Enhancers | Muscle Satellite Cultured Cells | -- |
13 | chr4:188462400-188462600 | Enhancers | HSMM | muscle |
14 | chr4:188462400-188462600 | Enhancers | NHDF-Ad | bronchial |
15 | chr4:188462400-188462800 | Enhancers | HSMMtube | muscle |
16 | chr4:188462600-188463000 | Flanking Active TSS | HSMM | muscle |
17 | chr4:188462600-188463000 | Flanking Active TSS | NHDF-Ad | bronchial |
18 | chr4:188462600-188463600 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
19 | chr4:188462800-188463000 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
20 | chr4:188462800-188463200 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
21 | chr4:188462800-188463200 | Flanking Active TSS | HSMMtube | muscle |
22 | chr4:188462800-188463600 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
23 | chr4:188463000-188463600 | Enhancers | HSMM | muscle |
24 | chr4:188463000-188463600 | Enhancers | NHDF-Ad | bronchial |
25 | chr4:188463200-188463600 | Enhancers | HSMMtube | muscle |
26 | chr4:188463200-188468600 | Weak transcription | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
27 | chr4:188463600-188465600 | Weak transcription | Muscle Satellite Cultured Cells | -- |
28 | chr4:188463600-188465600 | Weak transcription | HSMM | muscle |
29 | chr4:188463600-188465600 | Weak transcription | HSMMtube | muscle |
30 | chr4:188463600-188465800 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
31 | chr4:188463600-188470600 | Weak transcription | NHDF-Ad | bronchial |
32 | chr4:188465400-188465600 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
33 | chr4:188465600-188465800 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
34 | chr4:188465600-188465800 | Enhancers | HSMM | muscle |
35 | chr4:188465600-188466000 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
36 | chr4:188465600-188466000 | Enhancers | HSMMtube | muscle |
37 | chr4:188465600-188466200 | Enhancers | Muscle Satellite Cultured Cells | -- |
38 | chr4:188465600-188466200 | Enhancers | HMEC | breast |
39 | chr4:188465600-188466200 | Enhancers | NHEK | skin |
40 | chr4:188465800-188466200 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
41 | chr4:188465800-188466200 | Weak transcription | HSMM | muscle |
42 | chr4:188465800-188468600 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
43 | chr4:188466000-188466200 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
44 | chr4:188466000-188468400 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
45 | chr4:188466200-188466400 | Enhancers | HSMM | muscle |
46 | chr4:188466200-188468200 | Weak transcription | HMEC | breast |
47 | chr4:188466200-188468400 | Weak transcription | Muscle Satellite Cultured Cells | -- |
48 | chr4:188466200-188471200 | Weak transcription | NHEK | skin |
49 | chr4:188466200-188471400 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
50 | chr4:188466400-188471400 | Weak transcription | HSMM | muscle |