Variant report
Variant | nsv1023529 |
---|---|
Chromosome Location | chr4:189379520-189791531 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1423)
- CpG islands (count:2199)
- Chromatin interactive region (count:14)
- LncRNA region (count:64)
- 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 | chr4:189455499-189455789 | HepG2 | liver: | n/a | n/a |
2 | ARID3A | chr4:189499935-189500273 | HepG2 | liver: | n/a | n/a |
3 | ARID3A | chr4:189659351-189659620 | HepG2 | liver: | n/a | n/a |
4 | ARID3A | chr4:189527693-189528168 | HepG2 | liver: | n/a | n/a |
5 | ARID3A | chr4:189456095-189456482 | HepG2 | liver: | n/a | n/a |
6 | ATF1 | chr4:189739516-189739798 | K562 | blood: | n/a | n/a |
7 | ATF3 | chr4:189743843-189744148 | H1-hESC | embryonic stem cell: | n/a | n/a |
8 | BACH1 | chr4:189580313-189580512 | H1-hESC | embryonic stem cell: | n/a | n/a |
9 | BACH1 | chr4:189649632-189649850 | H1-hESC | embryonic stem cell: | n/a | n/a |
10 | BCL3 | chr4:189717818-189718056 | GM12878 | blood: | n/a | n/a |
11 | BHLHE40 | chr4:189539576-189539609 | K562 | blood: | n/a | n/a |
12 | BHLHE40 | chr4:189527879-189528027 | HepG2 | liver: | n/a | n/a |
13 | BHLHE40 | chr4:189456176-189456442 | HepG2 | liver: | n/a | n/a |
14 | BRCA1 | chr4:189404735-189404847 | Hela-S3 | cervix: | n/a | n/a |
15 | BRCA1 | chr4:189732419-189732499 | HepG2 | liver: | n/a | n/a |
16 | CEBPB | chr4:189433899-189434105 | HepG2 | liver: | n/a | chr4:189433976-189433987 |
17 | CEBPB | chr4:189560699-189560954 | A549 | lung: | n/a | n/a |
18 | CEBPB | chr4:189618403-189618710 | Hela-S3 | cervix: | n/a | chr4:189618559-189618570 |
19 | CEBPB | chr4:189533974-189534058 | A549 | lung: | n/a | n/a |
20 | CEBPB | chr4:189514320-189514661 | IMR90 | lung: | n/a | chr4:189514490-189514501 chr4:189514359-189514372 chr4:189514489-189514500 |
21 | CEBPB | chr4:189495393-189495495 | HepG2 | liver: | n/a | n/a |
22 | CEBPB | chr4:189636117-189636455 | IMR90 | lung: | n/a | n/a |
23 | CEBPB | chr4:189551807-189551980 | HepG2 | liver: | n/a | n/a |
24 | CEBPB | chr4:189514350-189514601 | A549 | lung: | n/a | chr4:189514490-189514501 chr4:189514359-189514372 chr4:189514489-189514500 |
25 | CEBPB | chr4:189584550-189585193 | HepG2 | liver: | n/a | n/a |
26 | CEBPB | chr4:189743879-189744190 | H1-hESC | embryonic stem cell: | n/a | n/a |
27 | CEBPB | chr4:189424052-189424344 | IMR90 | lung: | n/a | chr4:189424170-189424181 |
28 | CEBPB | chr4:189517237-189517434 | IMR90 | lung: | n/a | n/a |
29 | CEBPB | chr4:189424045-189424347 | HepG2 | liver: | n/a | chr4:189424047-189424059 chr4:189424170-189424181 |
30 | CEBPB | chr4:189493605-189493919 | HepG2 | liver: | n/a | chr4:189493776-189493787 |
31 | CEBPB | chr4:189516061-189516240 | IMR90 | lung: | n/a | n/a |
32 | CEBPB | chr4:189618245-189618777 | HCT-116 | colon: | n/a | chr4:189618559-189618570 |
33 | CEBPB | chr4:189789000-189789194 | HepG2 | liver: | n/a | chr4:189789127-189789138 |
34 | CEBPB | chr4:189584573-189585174 | A549 | lung: | n/a | n/a |
35 | CEBPB | chr4:189618387-189618747 | HepG2 | liver: | n/a | chr4:189618559-189618570 |
36 | CEBPB | chr4:189612960-189613423 | IMR90 | lung: | n/a | n/a |
37 | CEBPB | chr4:189493638-189493884 | IMR90 | lung: | n/a | chr4:189493776-189493787 |
38 | CEBPB | chr4:189549147-189549347 | A549 | lung: | n/a | n/a |
39 | CEBPB | chr4:189527875-189528128 | HepG2 | liver: | n/a | n/a |
40 | CEBPB | chr4:189618399-189618727 | A549 | lung: | n/a | chr4:189618559-189618570 |
41 | CEBPB | chr4:189789040-189789354 | ECC-1 | luminal epithelium: | n/a | chr4:189789127-189789138 |
42 | CEBPB | chr4:189549174-189549466 | HepG2 | liver: | n/a | n/a |
43 | CEBPB | chr4:189493631-189493895 | A549 | lung: | n/a | chr4:189493776-189493787 |
44 | CEBPB | chr4:189560668-189560998 | IMR90 | lung: | n/a | n/a |
45 | CEBPB | chr4:189584445-189584963 | A549 | lung: | n/a | n/a |
46 | CEBPB | chr4:189584550-189585245 | IMR90 | lung: | n/a | n/a |
47 | CEBPB | chr4:189789096-189789198 | IMR90 | lung: | n/a | chr4:189789127-189789138 |
48 | CEBPB | chr4:189549105-189549301 | H1-hESC | embryonic stem cell: | n/a | n/a |
49 | CEBPB | chr4:189628220-189628566 | IMR90 | lung: | n/a | chr4:189628489-189628497 |
50 | CEBPB | chr4:189591136-189591163 | HepG2 | liver: | n/a | chr4:189591147-189591158 |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr4:189580596-189580646 | Hepatocyte | liver: | n/a |
2 | chr4:189541174-189541224 | HEK293 | kidney: | embryo |
3 | chr4:189743072-189743122 | HIPEpiC | eye: | n/a |
4 | chr4:189580596-189580646 | Hepatocyte | liver: | n/a |
5 | chr4:189541174-189541224 | HEK293 | kidney: | embryo |
6 | chr4:189743072-189743122 | HIPEpiC | eye: | n/a |
7 | chr4:189553390-189553440 | HCF | heart: | n/a |
8 | chr4:189655175-189655225 | HepG2 | liver: | n/a |
9 | chr4:189655175-189655225 | HIPEpiC | eye: | n/a |
10 | chr4:189743072-189743122 | BE2_C | brain: | n/a |
11 | chr4:189659536-189659586 | HCT-116 | colon: | n/a |
12 | chr4:189551752-189551802 | SK-N-MC | brain: | n/a |
13 | chr4:189717968-189718018 | CMK | blood: | n/a |
14 | chr4:189548707-189548757 | HEK293 | kidney: | embryo |
15 | chr4:189655175-189655225 | HCT-116 | colon: | n/a |
16 | chr4:189612833-189612883 | Hela-S3 | cervix: | n/a |
17 | chr4:189580507-189580557 | NHBE | bronchial: | n/a |
18 | chr4:189554990-189555040 | HRPEpiC | eye: | n/a |
19 | chr4:189552622-189552672 | CMK | blood: | n/a |
20 | chr4:189552339-189552389 | Caco-2 | colon: | n/a |
21 | chr4:189718094-189718144 | T-47D | breast: | n/a |
22 | chr4:189552622-189552672 | HMEC | breast: | n/a |
23 | chr4:189553390-189553440 | HEK293 | kidney: | embryo |
24 | chr4:189553390-189553440 | K562 | blood: | n/a |
25 | chr4:189580596-189580646 | HepG2 | liver: | n/a |
26 | chr4:189551752-189551802 | LNCaP | prostate: | n/a |
27 | chr4:189580633-189580683 | HEK293 | kidney: | embryo |
28 | chr4:189553390-189553440 | NB4 | blood: | n/a |
29 | chr4:189476613-189476663 | GM12878 | blood: | n/a |
30 | chr4:189580798-189580848 | BE2_C | brain: | n/a |
31 | chr4:189577711-189577761 | K562 | blood: | n/a |
32 | chr4:189655175-189655225 | K562 | blood: | n/a |
33 | chr4:189553390-189553440 | HUVEC | blood vessel: | n/a |
34 | chr4:189602161-189602211 | U87 | brain: | n/a |
35 | chr4:189554990-189555040 | U87 | brain: | n/a |
36 | chr4:189548707-189548757 | HCF | heart: | n/a |
37 | chr4:189602236-189602286 | RPTEC | kidney: | n/a |
38 | chr4:189476745-189476795 | Jurkat | blood: | n/a |
39 | chr4:189485260-189485310 | HCM | heart: | n/a |
40 | chr4:189553390-189553440 | PANC-1 | pancreas: | n/a |
41 | chr4:189554990-189555040 | NHBE | bronchial: | n/a |
42 | chr4:189700628-189700678 | HCPEpiC | choroid plexus: | n/a |
43 | chr4:189395410-189395460 | HL-60 | blood: | n/a |
44 | chr4:189395410-189395460 | HEK293 | kidney: | embryo |
45 | chr4:189552622-189552672 | T-47D | breast: | n/a |
46 | chr4:189551752-189551802 | PFSK-1 | brain: | n/a |
47 | chr4:189476613-189476663 | HCM | heart: | n/a |
48 | chr4:189552339-189552389 | U87 | brain: | n/a |
49 | chr4:189476613-189476663 | T-47D | breast: | n/a |
50 | chr4:189578842-189578892 | ECC-1 | luminal epithelium: | n/a |
(count:14 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr4:189617734..189620588-chr4:189620667..189622688,2 | K562 | blood: | |
2 | chr4:189658110..189659728-chr6:153322361..153324298,2 | MCF-7 | breast: | |
3 | chr4:189510385..189513322-chr4:189513349..189516296,2 | MCF-7 | breast: | |
4 | chr4:189702571..189703442-chr4:190123148..190123787,2 | MCF-7 | breast: | |
5 | chr4:189659109..189659751-chr6:153323423..153323945,2 | NB4 | blood: | |
6 | chr4:189658248..189662329-chr6:153321108..153324955,4 | K562 | blood: | |
7 | chr4:189510385..189513322-chr4:189513349..189516296,2 | MCF-7 | breast: | |
8 | chr4:189390737..189392481-chr4:189394126..189396910,2 | K562 | blood: | |
9 | chr4:189704602..189705331-chr9:126840912..126841898,2 | MCF-7 | breast: | |
10 | chr4:189617734..189620588-chr4:189620667..189622688,2 | K562 | blood: | |
11 | chr4:189427438..189430236-chr6:107435359..107438052,2 | MCF-7 | breast: | |
12 | chr4:189659615..189661129-chr6:153313575..153315096,2 | K562 | blood: | |
13 | chr4:189659633..189661135-chr6:153323368..153324975,2 | MCF-7 | breast: | |
14 | chr4:189390737..189392481-chr4:189394126..189396910,2 | K562 | blood: |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-TRIML1-3 | chr4:189406933-189407076 | NONHSAT099746 |
2 | lnc-TRIML1-4 | chr4:189678833-189678898 | ENSG00000249269 |
3 | lnc-TRIML1-5 | chr4:189697811-189697921 | XLOC_003836 |
4 | lnc-TRIML2-6 | chr4:189698833-189699205 | ENSG00000250626 |
5 | lnc-TRIML1-5 | chr4:189705067-189705165 | XLOC_003836 |
6 | lnc-TRIML2-6 | chr4:189698862-189699205 | XLOC_004227 |
7 | lnc-TRIML1-10 | chr4:189635786-189636060 | ucscGeneNc_uc003izp_1 |
8 | lnc-TRIML1-3 | chr4:189457889-189459706 | XLOC_003834 |
9 | lnc-TRIML1-4 | chr4:189689945-189690019 | ENSG00000249269 |
10 | lnc-TRIML1-9 | chr4:189661661-189662435 | NONHSAT099754 |
11 | lnc-TRIML1-3 | chr4:189397852-189397910 | ENSG00000249378 |
12 | lnc-TRIML2-6 | chr4:189698770-189699205 | XLOC_004227 |
13 | lnc-TRIML2-6 | chr4:189698833-189699205 | XLOC_004227 |
14 | lnc-TRIML2-6 | chr4:189699739-189700052 | NONHSAT099763 |
15 | lnc-TRIML1-10 | chr4:189694883-189696700 | ucscGeneNc_uc003izp_1 |
16 | lnc-TRIML2-6 | chr4:189712226-189712445 | XLOC_004227 |
17 | lnc-TRIML1-3 | chr4:189406933-189407019 | NONHSAT099745 |
18 | lnc-TRIML2-6 | chr4:189716390-189716930 | XLOC_004227 |
19 | lnc-TRIML1-3 | chr4:189406933-189407019 | ENSG00000249378 |
20 | lnc-TRIML1-3 | chr4:189406933-189407019 | NONHSAT099749 |
21 | lnc-TRIML1-3 | chr4:189397852-189397910 | ENSG00000249378 |
22 | lnc-TRIML2-6 | chr4:189716390-189716718 | NONHSAT099763 |
23 | lnc-TRIML1-3 | chr4:189522922-189523060 | XLOC_003834 |
24 | lnc-TRIML1-3 | chr4:189397852-189397910 | NONHSAT099745 |
25 | lnc-TRIML2-6 | chr4:189716390-189717788 | XLOC_004227 |
26 | lnc-TRIML1-3 | chr4:189522922-189523025 | NONHSAT099749 |
27 | lnc-TRIML1-10 | chr4:189634846-189634904 | ucscGeneNc_uc003izp_1 |
28 | lnc-TRIML2-6 | chr4:189716390-189717787 | ENSG00000250626 |
29 | lnc-TRIML1-10 | chr4:189613729-189613822 | ucscGeneNc_uc003izp_1 |
30 | lnc-TRIML2-6 | chr4:189717871-189717969 | XLOC_004227 |
31 | lnc-TRIML2-6 | chr4:189738716-189738928 | XLOC_004227 |
32 | lnc-TRIML2-6 | chr4:189739480-189739606 | XLOC_004227 |
33 | lnc-TRIML1-4 | chr4:189699838-189700133 | ENSG00000249269 |
34 | lnc-TRIML1-3 | chr4:189406933-189407019 | ENSG00000249378 |
35 | lnc-TRIML1-3 | chr4:189522922-189523062 | ENSG00000249378 |
36 | lnc-TRIML1-3 | chr4:189397852-189397910 | XLOC_003834 |
37 | lnc-TRIML2-6 | chr4:189712226-189712445 | XLOC_004227 |
38 | lnc-TRIML1-3 | chr4:189397852-189397910 | NONHSAT099746 |
39 | lnc-TRIML1-3 | chr4:189406933-189407028 | XLOC_003834 |
40 | lnc-TRIML1-5 | chr4:189706450-189706665 | XLOC_003836 |
41 | lnc-TRIML1-3 | chr4:189398792-189399066 | NONHSAT099746 |
42 | lnc-TRIML2-6 | chr4:189739480-189739775 | XLOC_004227 |
43 | lnc-TRIML1-3 | chr4:189397852-189397910 | XLOC_003834 |
44 | lnc-TRIML2-6 | chr4:189717890-189717959 | XLOC_004227 |
45 | lnc-TRIML1-3 | chr4:189406933-189407019 | XLOC_003834 |
46 | lnc-TRIML2-6 | chr4:189738798-189738928 | XLOC_004227 |
47 | lnc-TRIML1-10 | chr4:189614812-189614910 | ucscGeneNc_uc003izp_1 |
48 | lnc-TRIML1-3 | chr4:189406933-189407011 | XLOC_003834 |
49 | lnc-TRIML2-6 | chr4:189712226-189712445 | NONHSAT099763 |
50 | lnc-TRIML1-3 | chr4:189397852-189397910 | XLOC_003834 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000249269 | TF binding region |
RNU7-192P | TF binding region |
LINC01060 | TF binding region |
ENSG00000251619 | TF binding region |
ENSG00000250523 | TF binding region |
ENSG00000180015 | TF binding region |
ENSG00000250626 | TF binding region |
ENSG00000249269 | CpG island |
RNU7-192P | CpG island |
LINC01060 | CpG island |
ENSG00000251619 | CpG island |
ENSG00000250523 | CpG island |
ENSG00000180015 | CpG island |
ENSG00000250626 | CpG island |
ENSG00000178409 | chromatin interactions |
ENSG00000112031 | chromatin interactions |
SHCBP1 | miRNA target sites |
DIP2C | miRNA target sites |
MPP5 | miRNA target sites |
UBFD1 | miRNA target sites |
USP1 | miRNA target sites |
KCNK1 | miRNA target sites |
RASSF2 | miRNA target sites |
TAPBP | miRNA target sites |
PTGFRN | miRNA target sites |
PRNP | miRNA target sites |
MAP2K4 | miRNA target sites |
PFN2 | miRNA target sites |
BMPR2 | miRNA target sites |
FAM104A | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs372298 | chr4:189379520-189379521 | Weak transcription Strong transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
2 | rs550081401 | chr4:189379604-189379605 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs570396709 | chr4:189379606-189379607 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs529629276 | chr4:189379610-189379611 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs551328588 | chr4:189379685-189379686 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs549668534 | chr4:189379703-189379704 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs34235108 | chr4:189379727-189379728 | Weak transcription Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
8 | rs535008817 | chr4:189379748-189379749 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs558278414 | chr4:189379760-189379761 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs545630992 | chr4:189379780-189379781 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs7663465 | chr4:189379783-189379784 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs537285523 | chr4:189379788-189379789 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs556896312 | chr4:189379789-189379790 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs573476242 | chr4:189379794-189379795 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs138751813 | chr4:189379801-189379802 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs141884835 | chr4:189379836-189379837 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs572543387 | chr4:189379840-189379841 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs181380578 | chr4:189379844-189379845 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs565017574 | chr4:189379845-189379846 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs146280372 | chr4:189379851-189379852 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs185360394 | chr4:189379881-189379882 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs113302760 | chr4:189379882-189379883 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs529461170 | chr4:189379898-189379899 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs531474497 | chr4:189379912-189379913 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs113874028 | chr4:189379913-189379914 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs181482660 | chr4:189379943-189379944 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs528516312 | chr4:189379947-189379948 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs10026971 | chr4:189379975-189379976 | Weak transcription Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
29 | rs150534924 | chr4:189379988-189379989 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs576722765 | chr4:189380013-189380014 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs534718549 | chr4:189380041-189380042 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs139537228 | chr4:189380042-189380043 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs117844842 | chr4:189380087-189380088 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs536026938 | chr4:189380091-189380092 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs186379545 | chr4:189380095-189380096 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs144184527 | chr4:189380108-189380109 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs33940044 | chr4:189380122-189380123 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs545019884 | chr4:189380125-189380126 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs558283783 | chr4:189380139-189380140 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs147359416 | chr4:189380152-189380153 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs75621921 | chr4:189380156-189380157 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs13109600 | chr4:189380162-189380163 | Weak transcription Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
43 | rs556866406 | chr4:189380186-189380187 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs618277 | chr4:189380221-189380222 | Weak transcription Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
45 | rs618244 | chr4:189380245-189380246 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs528798503 | chr4:189380431-189380432 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs35606685 | chr4:189380446-189380447 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs192275323 | chr4:189380507-189380508 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs565141354 | chr4:189380537-189380538 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs530895895 | chr4:189380616-189380617 | Weak transcription Strong transcription 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 |
Cognitive impairment | 21505072 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Tetralogy of Fallot | 22912587 | CNVD |
Epilepsy | 21635232 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Autism | 20531469 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Sinonasal adenocarcinoma | 21360264 | CNVD |
Bipolar disorder | 19114987 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:189366000-189415600 | Weak transcription | Osteobl | bone |
2 | chr4:189374600-189380600 | Weak transcription | Brain Germinal Matrix | brain |
3 | chr4:189375600-189384800 | Strong transcription | Breast Myoepithelial Primary Cells | Breast |
4 | chr4:189376400-189380600 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
5 | chr4:189376800-189416200 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
6 | chr4:189377000-189387000 | Strong transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
7 | chr4:189377200-189384000 | Weak transcription | H1 Cell Line | embryonic stem cell |
8 | chr4:189377600-189381400 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
9 | chr4:189377800-189384000 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
10 | chr4:189379400-189379600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
11 | chr4:189379400-189379600 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
12 | chr4:189379400-189380000 | Strong transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
13 | chr4:189379600-189380800 | Weak transcription | Fetal Brain Male | brain |
14 | chr4:189380000-189385000 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
15 | chr4:189380600-189381200 | Enhancers | Cortex derived primary cultured neurospheres | brain |
16 | chr4:189380600-189381200 | Enhancers | Brain Germinal Matrix | brain |
17 | chr4:189380800-189381400 | Enhancers | Fetal Brain Male | brain |
18 | chr4:189381400-189381800 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
19 | chr4:189381800-189383800 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
20 | chr4:189384000-189384400 | Strong transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
21 | chr4:189384200-189385000 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
22 | chr4:189384400-189385000 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
23 | chr4:189384600-189385200 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
24 | chr4:189384800-189388000 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
25 | chr4:189385000-189385400 | ZNF genes & repeats | H1 Derived Mesenchymal Stem Cells | ES cell derived |
26 | chr4:189385000-189385600 | ZNF genes & repeats | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
27 | chr4:189385400-189415800 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
28 | chr4:189385600-189394800 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
29 | chr4:189386800-189387000 | Enhancers | Brain Germinal Matrix | brain |
30 | chr4:189387000-189394000 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
31 | chr4:189387200-189387600 | Weak transcription | Brain Germinal Matrix | brain |
32 | chr4:189387800-189388000 | Enhancers | Brain Germinal Matrix | brain |
33 | chr4:189388000-189388600 | Strong transcription | Breast Myoepithelial Primary Cells | Breast |
34 | chr4:189388600-189393800 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
35 | chr4:189393800-189396000 | Strong transcription | Breast Myoepithelial Primary Cells | Breast |
36 | chr4:189394000-189397400 | Strong transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
37 | chr4:189394200-189395400 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
38 | chr4:189394400-189395200 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
39 | chr4:189394400-189395400 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
40 | chr4:189394400-189396600 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
41 | chr4:189394800-189395200 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
42 | chr4:189394800-189395200 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
43 | chr4:189394800-189395200 | Enhancers | Placenta Amnion | Placenta Amnion |
44 | chr4:189395000-189395400 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
45 | chr4:189395000-189396000 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
46 | chr4:189395200-189395400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
47 | chr4:189395200-189396000 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
48 | chr4:189395200-189398200 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
49 | chr4:189395400-189395600 | Flanking Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
50 | chr4:189395600-189395800 | Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |