Variant report
Variant | nsv1022621 |
---|---|
Chromosome Location | chr4:188058730-188966426 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:3139)
- CpG islands (count:6111)
- Chromatin interactive region (count:67)
- LncRNA region (count:127)
- 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 | ARID3A | chr4:188172278-188172408 | HepG2 | liver: | 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 | chr4:188916764-188917071 | H1-hESC | embryonic stem cell: | n/a | n/a |
6 | ATF2 | chr4:188953244-188953886 | H1-hESC | embryonic stem cell: | n/a | n/a |
7 | ATF2 | chr4:188915055-188915396 | H1-hESC | embryonic stem cell: | n/a | n/a |
8 | ATF2 | chr4:188926433-188926974 | H1-hESC | embryonic stem cell: | n/a | n/a |
9 | ATF2 | chr4:188850148-188850549 | H1-hESC | embryonic stem cell: | n/a | n/a |
10 | ATF2 | chr4:188917657-188917951 | H1-hESC | embryonic stem cell: | n/a | n/a |
11 | ATF2 | chr4:188916749-188917170 | H1-hESC | embryonic stem cell: | n/a | n/a |
12 | ATF3 | chr4:188527774-188527903 | K562 | blood: | n/a | n/a |
13 | BACH1 | chr4:188964645-188964695 | H1-hESC | embryonic stem cell: | n/a | n/a |
14 | BACH1 | chr4:188936288-188936488 | H1-hESC | embryonic stem cell: | n/a | n/a |
15 | BACH1 | chr4:188413248-188413433 | K562 | blood: | n/a | chr4:188413338-188413352 |
16 | BACH1 | chr4:188916526-188917174 | H1-hESC | embryonic stem cell: | n/a | n/a |
17 | BACH1 | chr4:188068202-188068264 | K562 | blood: | n/a | n/a |
18 | BACH1 | chr4:188129816-188130163 | H1-hESC | embryonic stem cell: | n/a | n/a |
19 | BACH1 | chr4:188952989-188953975 | H1-hESC | embryonic stem cell: | n/a | n/a |
20 | BACH1 | chr4:188129825-188130039 | K562 | 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 | chr4:188193059-188193371 | GM12878 | blood: | n/a | n/a |
24 | BHLHE40 | chr4:188162982-188163057 | A549 | lung: | n/a | n/a |
25 | BHLHE40 | chr4:188519650-188519830 | GM12878 | blood: | n/a | n/a |
26 | BHLHE40 | chr4:188078752-188079118 | K562 | blood: | n/a | n/a |
27 | BHLHE40 | chr4:188534744-188534930 | K562 | blood: | n/a | n/a |
28 | BHLHE40 | chr4:188929455-188929456 | HepG2 | liver: | n/a | n/a |
29 | BHLHE40 | chr4:188343966-188344142 | K562 | blood: | n/a | n/a |
30 | BHLHE40 | chr4:188923505-188923772 | K562 | blood: | n/a | n/a |
31 | BHLHE40 | chr4:188527838-188527964 | K562 | blood: | n/a | n/a |
32 | BHLHE40 | chr4:188538740-188538867 | K562 | blood: | n/a | n/a |
33 | BHLHE40 | chr4:188533400-188533687 | K562 | blood: | n/a | n/a |
34 | BRCA1 | chr4:188917816-188917938 | H1-hESC | embryonic stem cell: | n/a | n/a |
35 | BRCA1 | chr4:188923496-188923905 | Hela-S3 | cervix: | n/a | n/a |
36 | BRCA1 | chr4:188909297-188909449 | Hela-S3 | cervix: | n/a | n/a |
37 | BRCA1 | chr4:188570315-188570361 | GM12878 | blood: | n/a | n/a |
38 | BRCA1 | chr4:188936021-188936859 | Hela-S3 | cervix: | n/a | n/a |
39 | CBX3 | chr4:188301159-188301792 | HCT-116 | colon: | n/a | n/a |
40 | CBX3 | chr4:188660869-188661415 | HCT-116 | colon: | n/a | n/a |
41 | CBX3 | chr4:188507537-188508612 | HCT-116 | colon: | n/a | n/a |
42 | CBX3 | chr4:188665981-188666555 | HCT-116 | colon: | n/a | n/a |
43 | CEBPB | chr4:188317722-188317931 | HepG2 | liver: | n/a | chr4:188317842-188317853 chr4:188317842-188317855 chr4:188317839-188317856 |
44 | CEBPB | chr4:188873544-188873823 | HepG2 | liver: | n/a | chr4:188873674-188873685 chr4:188873635-188873646 |
45 | CEBPB | chr4:188929463-188929848 | IMR90 | lung: | n/a | n/a |
46 | CEBPB | chr4:188158510-188158761 | A549 | lung: | n/a | n/a |
47 | CEBPB | chr4:188735766-188736151 | K562 | blood: | n/a | n/a |
48 | CEBPB | chr4:188524161-188524444 | IMR90 | lung: | n/a | n/a |
49 | CEBPB | chr4:188608874-188609254 | IMR90 | lung: | n/a | chr4:188609058-188609071 chr4:188609058-188609069 chr4:188609060-188609069 |
50 | CEBPB | chr4:188735771-188736121 | A549 | lung: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr4:188528319-188528369 | GM12878 | blood: | n/a |
2 | chr4:188256765-188256815 | HCT-116 | colon: | n/a |
3 | chr4:188462685-188462735 | NH-A | brain: | n/a |
4 | chr4:188428637-188428687 | RPTEC | kidney: | n/a |
5 | chr4:188916581-188916631 | PFSK-1 | brain: | n/a |
6 | chr4:188953092-188953142 | U87 | brain: | n/a |
7 | chr4:188916581-188916631 | GM19239 | blood: | n/a |
8 | chr4:188924752-188924802 | GM12892 | blood: | n/a |
9 | chr4:188462685-188462735 | SAEC | small airway: | n/a |
10 | chr4:188223108-188223158 | Hela-S3 | cervix: | n/a |
11 | chr4:188916724-188916774 | SAEC | small airway: | n/a |
12 | chr4:188528319-188528369 | GM12878 | blood: | n/a |
13 | chr4:188256765-188256815 | HCT-116 | colon: | n/a |
14 | chr4:188462685-188462735 | NH-A | brain: | n/a |
15 | chr4:188428637-188428687 | RPTEC | kidney: | n/a |
16 | chr4:188916581-188916631 | PFSK-1 | brain: | n/a |
17 | chr4:188953092-188953142 | U87 | brain: | n/a |
18 | chr4:188916581-188916631 | GM19239 | blood: | n/a |
19 | chr4:188924752-188924802 | GM12892 | blood: | n/a |
20 | chr4:188462685-188462735 | SAEC | small airway: | n/a |
21 | chr4:188223108-188223158 | Hela-S3 | cervix: | n/a |
22 | chr4:188916724-188916774 | SAEC | small airway: | n/a |
23 | chr4:188953527-188953577 | CMK | blood: | n/a |
24 | chr4:188963324-188963374 | HAEpiC | amniotic membrane: | n/a |
25 | chr4:188256765-188256815 | PANC-1 | pancreas: | n/a |
26 | chr4:188097967-188098017 | T-47D | breast: | n/a |
27 | chr4:188916867-188916917 | Caco-2 | colon: | n/a |
28 | chr4:188534912-188534962 | U87 | brain: | n/a |
29 | chr4:188686664-188686714 | Caco-2 | colon: | n/a |
30 | chr4:188230390-188230440 | NH-A | brain: | n/a |
31 | chr4:188462685-188462735 | H1-hESC | embryonic stem cell: | embryo |
32 | chr4:188391387-188391437 | GM12891 | blood: | n/a |
33 | chr4:188953126-188953176 | HCM | heart: | n/a |
34 | chr4:188223108-188223158 | Caco-2 | colon: | n/a |
35 | chr4:188854221-188854271 | SK-N-SH_RA | brain: | n/a |
36 | chr4:188916726-188916776 | H1-hESC | embryonic stem cell: | embryo |
37 | chr4:188528319-188528369 | SAEC | small airway: | n/a |
38 | chr4:188736112-188736162 | ECC-1 | luminal epithelium: | n/a |
39 | chr4:188918931-188918981 | AG04450 | lung: | fetal |
40 | chr4:188140222-188140272 | AG09319 | gingival: | n/a |
41 | chr4:188918931-188918981 | K562 | blood: | n/a |
42 | chr4:188916875-188916925 | GM12892 | blood: | n/a |
43 | chr4:188256765-188256815 | PrEC | prostate: | n/a |
44 | chr4:188423066-188423116 | HAEpiC | amniotic membrane: | n/a |
45 | chr4:188915407-188915457 | NHDF-neo | bronchial: | n/a |
46 | chr4:188895421-188895471 | H1-hESC | embryonic stem cell: | embryo |
47 | chr4:188953906-188953956 | ovcar-3 | ovarian: | n/a |
48 | chr4:188156703-188156753 | HNPCEpiC | eye: | n/a |
49 | chr4:188686726-188686776 | HIPEpiC | eye: | n/a |
50 | chr4:188534776-188534826 | NB4 | blood: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr4:188082742..188084382-chr4:188084801..188086705,2 | K562 | blood: | |
2 | chr4:188066477..188068496-chr4:188071988..188074466,2 | K562 | blood: | |
3 | chr4:188914704..188915349-chr4:188923417..188923946,2 | MCF-7 | breast: | |
4 | chr4:188527681..188530400-chr4:188530916..188532601,2 | K562 | blood: | |
5 | chr4:188527128..188528286-chr4:189293970..189294660,4 | MCF-7 | breast: | |
6 | chr4:188959730..188961356-chr4:188968354..188971076,2 | MCF-7 | breast: | |
7 | chr4:188424251..188426259-chr4:188431828..188433769,2 | MCF-7 | breast: | |
8 | chr4:188638802..188641142-chr4:188661839..188664453,2 | K562 | blood: | |
9 | chr4:188908545..188911160-chr4:188914079..188916849,2 | K562 | blood: | |
10 | chr4:188379432..188382221-chr4:188385756..188387515,2 | K562 | blood: | |
11 | chr4:188100330..188101980-chr4:188105667..188107214,2 | K562 | blood: | |
12 | chr4:188936272..188938284-chr4:188943091..188945323,2 | MCF-7 | breast: | |
13 | chr4:188082742..188084382-chr4:188084801..188086705,2 | K562 | blood: | |
14 | chr4:188527681..188530400-chr4:188530916..188532601,2 | K562 | blood: | |
15 | chr4:188914709..188915626-chr4:189293756..189294718,5 | MCF-7 | breast: | |
16 | chr4:188218935..188220617-chr4:188223273..188225640,2 | K562 | blood: | |
17 | chr4:188908545..188911160-chr4:188914079..188916849,2 | K562 | blood: | |
18 | chr4:188083083..188085833-chr4:188087348..188090241,2 | MCF-7 | breast: | |
19 | chr4:188914697..188915636-chr4:189293778..189294511,3 | MCF-7 | breast: | |
20 | chr4:188066477..188068496-chr4:188071988..188074466,2 | K562 | blood: | |
21 | chr4:188127890..188130779-chr4:188137377..188140053,2 | K562 | blood: | |
22 | chr4:188638802..188641142-chr4:188661839..188664453,2 | K562 | blood: | |
23 | chr4:188261472..188262979-chr4:188266588..188269425,2 | K562 | blood: | |
24 | chr4:188169327..188171194-chr4:188181076..188182965,2 | K562 | blood: | |
25 | chr4:188424251..188426259-chr4:188431828..188433769,2 | MCF-7 | breast: | |
26 | chr4:188391078..188391578-chr8:43092429..43092931,2 | MCF-7 | breast: | |
27 | chr4:188169327..188171194-chr4:188181076..188182965,2 | K562 | blood: | |
28 | chr4:188361387..188363227-chr4:188363317..188365027,2 | K562 | blood: | |
29 | chr4:188936272..188938284-chr4:188943091..188945323,2 | MCF-7 | breast: | |
30 | chr4:188127890..188130779-chr4:188137377..188140053,2 | K562 | blood: | |
31 | chr4:188914704..188915349-chr4:188923417..188923946,2 | MCF-7 | breast: | |
32 | chr4:188136808..188139497-chr4:188168223..188169981,2 | K562 | blood: | |
33 | chr1:149223872..149224384-chr4:188652498..188652998,2 | MCF-7 | breast: | |
34 | chr4:188177128..188179488-chr4:188187474..188190252,2 | MCF-7 | breast: | |
35 | chr4:188587219..188588049-chr4:189293834..189294448,2 | MCF-7 | breast: | |
36 | chr4:188218935..188220617-chr4:188223273..188225640,2 | K562 | blood: | |
37 | chr4:188261472..188262979-chr4:188266588..188269425,2 | K562 | blood: | |
38 | chr4:188343831..188346613-chr4:188349550..188352474,2 | K562 | blood: | |
39 | chr4:188100330..188101980-chr4:188105667..188107214,2 | K562 | blood: | |
40 | chr4:187646533..187648100-chr4:188156626..188159035,2 | MCF-7 | breast: | |
41 | chr4:188278385..188280812-chr4:188281318..188282901,2 | K562 | blood: | |
42 | chr4:188807826..188808346-chr6:74078319..74078839,2 | MCF-7 | breast: | |
43 | chr1:149223776..149224611-chr4:188652518..188653518,3 | MCF-7 | breast: | |
44 | chr1:149223042..149224634-chr4:188652998..188654518,2 | MCF-7 | breast: | |
45 | chr4:188278385..188280812-chr4:188281318..188282901,2 | K562 | blood: | |
46 | chr4:188360438..188363227-chr4:188363317..188366717,3 | K562 | blood: | |
47 | chr4:188867496..188869174-chr4:188872429..188875179,2 | MCF-7 | breast: | |
48 | chr4:188077660..188079789-chr4:188085671..188087696,2 | K562 | blood: | |
49 | chr4:188127890..188131303-chr4:188136198..188140053,3 | K562 | blood: | |
50 | chr1:149223786..149225310-chr4:188651498..188652998,2 | MCF-7 | breast: |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-FAT1-3 | chr4:188225792-188226855 | XLOC_004217 |
2 | lnc-ZFP42-8 | chr4:188863112-188863571 | l_2822_chr4:188790794-188818331_testes |
3 | lnc-ZFP42-5 | chr4:188336464-188337128 | NONHSAT099694 |
4 | lnc-ZFP42-2 | chr4:188534086-188535153 | XLOC_003829 |
5 | lnc-TRIML2-9 | chr4:188771044-188771493 | l_2820_chr4:188691027-188804581_testes |
6 | lnc-ZFP42-7 | chr4:188134283-188134810 | XLOC_003825 |
7 | lnc-TRIML2-2 | chr4:188866817-188867016 | NONHSAT099725 |
8 | lnc-ZFP42-2 | chr4:188632898-188633228 | XLOC_003829 |
9 | lnc-ZFP42-7 | chr4:188133530-188133630 | XLOC_003825 |
10 | lnc-ZFP42-8 | chr4:188818285-188818331 | l_2822_chr4:188790794-188818331_testes |
11 | lnc-ZFP42-4 | chr4:188351216-188351539 | XLOC_003828 |
12 | lnc-ZFP42-7 | chr4:188133530-188134139 | XLOC_003825 |
13 | lnc-ZFP42-13 | chr4:188251486-188251546 | NONHSAT099691 |
14 | lnc-TRIML2-4 | chr4:188477065-188477112 | ENSG00000250590 |
15 | lnc-ZFP42-13 | chr4:188252448-188253478 | NONHSAT099691 |
16 | lnc-ZFP42-7 | chr4:188123187-188123296 | XLOC_003825 |
17 | lnc-ZFP42-12 | chr4:188370524-188371133 | l_2817_chr4:188360138-188372335_testes |
18 | lnc-ZFP42-9 | chr4:188771634-188772147 | l_2821_chr4:188771633-188780051_testes |
19 | lnc-TRIML2-4 | chr4:188513797-188514081 | NONHSAT099706 |
20 | lnc-TRIML2-2 | chr4:188913836-188914027 | NONHSAT099726 |
21 | lnc-ZFP42-9 | chr4:188779825-188780051 | l_2821_chr4:188771633-188780051_testes |
22 | lnc-TRIML2-12 | chr4:188362831-188363446 | NONHSAT099697 |
23 | lnc-ZFP42-2 | chr4:188554100-188554300 | XLOC_003829 |
24 | lnc-ZFP42-7 | chr4:188129941-188130201 | XLOC_003825 |
25 | lnc-ZFP42-1 | chr4:188789601-188789707 | XLOC_003831 |
26 | lnc-ZFP42-4 | chr4:188344049-188344151 | XLOC_003828 |
27 | lnc-ZFP42-5 | chr4:188334718-188334865 | ENSG00000250620 |
28 | lnc-TRIML2-4 | chr4:188586916-188586992 | ENSG00000250590 |
29 | lnc-TRIML2-9 | chr4:188716229-188716412 | l_2820_chr4:188691027-188804581_testes |
30 | lnc-ZFP42-7 | chr4:188133530-188134139 | XLOC_003825 |
31 | lnc-ZFP42-2 | chr4:188581291-188581523 | XLOC_003829 |
32 | lnc-ZFP42-1 | chr4:188735823-188736246 | XLOC_003831 |
33 | lnc-ZFP42-7 | chr4:188130341-188130500 | XLOC_003825 |
34 | lnc-ZFP42-2 | chr4:188626118-188626433 | XLOC_003829 |
35 | lnc-ZFP42-2 | chr4:188626207-188626577 | NONHSAT099720 |
36 | lnc-ZFP42-12 | chr4:188371277-188372335 | l_2817_chr4:188360138-188372335_testes |
37 | lnc-ZFP42-6 | chr4:188292449-188292580 | XLOC_003826 |
38 | lnc-ZFP42-4 | chr4:188343853-188344622 | NONHSAT099695 |
39 | lnc-TRIML2-4 | chr4:188514038-188514081 | ENSG00000250590 |
40 | lnc-TRIML2-9 | chr4:188771634-188772347 | l_2820_chr4:188691027-188804581_testes |
41 | lnc-ZFP42-1 | chr4:188735822-188736272 | NONHSAT099722 |
42 | lnc-ZFP42-1 | chr4:188789600-188789707 | NONHSAT099722 |
43 | lnc-ZFP42-6 | chr4:188291802-188291929 | XLOC_003826 |
44 | lnc-ZFP42-2 | chr4:188543796-188543894 | XLOC_003829 |
45 | lnc-ZFP42-7 | chr4:188134283-188134753 | NONHSAT099688 |
46 | lnc-TRIML2-4 | chr4:188476930-188477103 | ENSG00000250590 |
47 | lnc-TRIML2-11 | chr4:188535229-188535272 | l_2818_chr4:188532414-188535272_placenta |
48 | lnc-TRIML2-9 | chr4:188691028-188691351 | l_2820_chr4:188691027-188804581_testes |
49 | lnc-TRIML2-2 | chr4:188881466-188881648 | XLOC_004222 |
50 | lnc-ZFP42-2 | chr4:188581291-188581521 | XLOC_003829 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000251490 | TF binding region |
ENSG00000251643 | TF binding region |
ZFP42 | TF binding region |
ENSG00000250620 | TF binding region |
ENSG00000250042 | TF binding region |
ADAM20P3 | TF binding region |
ENSG00000249642 | TF binding region |
ENSG00000250590 | TF binding region |
ENSG00000213331 | TF binding region |
ENSG00000249747 | TF binding region |
ENSG00000250658 | TF binding region |
ENSG00000251490 | CpG island |
ENSG00000251643 | CpG island |
ZFP42 | CpG island |
ENSG00000250620 | CpG island |
ENSG00000250042 | CpG island |
ADAM20P3 | CpG island |
ENSG00000249642 | CpG island |
ENSG00000250590 | CpG island |
ENSG00000213331 | CpG island |
ENSG00000249747 | CpG island |
ENSG00000250658 | CpG island |
ENSG00000083857 | chromatin interactions |
ENSG00000251643 | chromatin interactions |
ENSG00000206737 | chromatin interactions |
ENSG00000029993 | chromatin interactions |
MCL1 | miRNA target sites |
ZFYVE26 | miRNA target sites |
PHF6 | miRNA target sites |
FSCN1 | miRNA target sites |
CDC42 | miRNA target sites |
NDP | miRNA target sites |
TAGLN2 | miRNA target sites |
KIF13B | miRNA target sites |
UBXN1 | miRNA target sites |
LMNB1 | miRNA target sites |
ANTXR1 | miRNA target sites |
ANKRD57 | miRNA target sites |
ANP32E | miRNA target sites |
TIMP3 | miRNA target sites |
MED20 | miRNA target sites |
KLF12 | miRNA target sites |
CCND1 | miRNA target sites |
OSBPL1A | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs556281001 | chr4:188058750-188058751 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs563869224 | chr4:188058763-188058764 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs529543201 | chr4:188058769-188058770 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs542870396 | chr4:188058775-188058776 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs73020315 | chr4:188058783-188058784 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs528047826 | chr4:188058831-188058832 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs187871024 | chr4:188058848-188058849 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs199621034 | chr4:188058878-188058879 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs138306427 | chr4:188058884-188058885 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs200160240 | chr4:188058887-188058888 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs550747663 | chr4:188058907-188058908 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs567422446 | chr4:188058909-188058910 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs149641940 | chr4:188058916-188058917 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs367801576 | chr4:188058938-188058939 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs76554121 | chr4:188058945-188058946 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs553269609 | chr4:188058996-188058997 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs566101724 | chr4:188058997-188058998 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs189950764 | chr4:188059043-188059044 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs12650383 | chr4:188059061-188059062 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
20 | rs182765056 | chr4:188059071-188059072 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs6853472 | chr4:188059074-188059075 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
22 | rs557538076 | chr4:188059095-188059096 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs573859007 | chr4:188059096-188059097 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs374712389 | chr4:188059119-188059120 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs561265511 | chr4:188059169-188059170 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs188073518 | chr4:188059183-188059184 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs147338636 | chr4:188059200-188059201 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs192823306 | chr4:188059218-188059219 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs528570117 | chr4:188059222-188059223 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs7670962 | chr4:188059232-188059233 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
31 | rs564875857 | chr4:188059272-188059273 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs530632614 | chr4:188059276-188059277 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs550363446 | chr4:188059277-188059278 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs143249318 | chr4:188059291-188059292 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs529888033 | chr4:188059299-188059300 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs546946032 | chr4:188059310-188059311 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs7671485 | chr4:188059312-188059313 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
38 | rs70938614 | chr4:188059317-188059318 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs70938615 | chr4:188059326-188059327 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs563320322 | chr4:188059330-188059331 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs534752088 | chr4:188059334-188059335 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs113444942 | chr4:188059345-188059346 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs571507418 | chr4:188059346-188059347 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs142759775 | chr4:188059350-188059351 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs557005180 | chr4:188059354-188059355 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs573922749 | chr4:188059362-188059363 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs536430102 | chr4:188059366-188059367 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs530758786 | chr4:188059370-188059371 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs573196393 | chr4:188059380-188059381 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs183477416 | chr4:188059381-188059382 | Weak transcription | 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 |
Oral cancer | 21386901 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Autism | 20808228 | CNVD |
Cognitive impairment | 21505072 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Bipolar disorder | 19114987 | CNVD |
Breast cancer | 22522925 | CNVD |
Tetralogy of Fallot | 22912587 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:188052000-188078600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
2 | chr4:188059800-188061400 | Enhancers | Rectal Mucosa Donor 31 | rectum |
3 | chr4:188060000-188060800 | Enhancers | Fetal Intestine Large | intestine |
4 | chr4:188060200-188060600 | Enhancers | Duodenum Mucosa | Duodenum |
5 | chr4:188060200-188060800 | Enhancers | Fetal Intestine Small | intestine |
6 | chr4:188061600-188062400 | Enhancers | Fetal Lung | lung |
7 | chr4:188061800-188062800 | Enhancers | NH-A | brain |
8 | chr4:188062000-188062400 | Enhancers | Muscle Satellite Cultured Cells | -- |
9 | chr4:188062200-188062600 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
10 | chr4:188062200-188067200 | Weak transcription | Pancreas | Pancrea |
11 | chr4:188063200-188063600 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
12 | chr4:188063200-188063600 | Enhancers | Placenta | Placenta |
13 | chr4:188066600-188067200 | Enhancers | Gastric | stomach |
14 | chr4:188067800-188068400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
15 | chr4:188068400-188068600 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
16 | chr4:188068400-188068600 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
17 | chr4:188068600-188071400 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
18 | chr4:188069800-188071000 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
19 | chr4:188069800-188071000 | Enhancers | NHEK | skin |
20 | chr4:188070400-188071000 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
21 | chr4:188070800-188071000 | Enhancers | Pancreatic Islets | Pancreatic Islet |
22 | chr4:188071200-188072800 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
23 | chr4:188071400-188071600 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
24 | chr4:188071600-188071800 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
25 | chr4:188072800-188074200 | Enhancers | Pancreatic Islets | Pancreatic Islet |
26 | chr4:188078600-188079400 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
27 | chr4:188078800-188079200 | Active TSS | K562 | blood |
28 | chr4:188079200-188079800 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
29 | chr4:188079600-188080000 | Enhancers | Cortex derived primary cultured neurospheres | brain |
30 | chr4:188080000-188081000 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
31 | chr4:188081000-188081200 | Enhancers | Cortex derived primary cultured neurospheres | brain |
32 | chr4:188085800-188086000 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
33 | chr4:188085800-188086200 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
34 | chr4:188087400-188087800 | Enhancers | Rectal Mucosa Donor 31 | rectum |
35 | chr4:188087800-188088200 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
36 | chr4:188088200-188088800 | Enhancers | Adipose Nuclei | Adipose |
37 | chr4:188088200-188089200 | Enhancers | Rectal Mucosa Donor 31 | rectum |
38 | chr4:188088600-188089000 | Enhancers | Rectal Mucosa Donor 29 | rectum |
39 | chr4:188088600-188089000 | Enhancers | Stomach Mucosa | stomach |
40 | chr4:188088600-188089200 | Enhancers | Fetal Lung | lung |
41 | chr4:188088600-188089200 | Enhancers | Placenta | Placenta |
42 | chr4:188088800-188092800 | Weak transcription | Adipose Nuclei | Adipose |
43 | chr4:188089000-188089200 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
44 | chr4:188089000-188089200 | Enhancers | Sigmoid Colon | Sigmoid Colon |
45 | chr4:188089000-188093200 | Weak transcription | Rectal Mucosa Donor 29 | rectum |
46 | chr4:188089200-188090800 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
47 | chr4:188089200-188092800 | Weak transcription | Fetal Lung | lung |
48 | chr4:188089200-188093000 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
49 | chr4:188089200-188093000 | Weak transcription | Sigmoid Colon | Sigmoid Colon |
50 | chr4:188090800-188091600 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |