Variant report
Variant | esv2751268 |
---|---|
Chromosome Location | chr14:20203125-20716841 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1604)
- CpG islands (count:2014)
- Chromatin interactive region (count:38)
- LncRNA region (count:2)
- 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 | chr14:20346227-20346537 | HepG2 | liver: | n/a | n/a |
2 | ARID3A | chr14:20644582-20645133 | K562 | blood: | n/a | n/a |
3 | ARID3A | chr14:20512405-20512844 | K562 | blood: | n/a | n/a |
4 | ARID3A | chr14:20387153-20387455 | HepG2 | liver: | n/a | n/a |
5 | ARID3A | chr14:20645562-20646086 | K562 | blood: | n/a | n/a |
6 | ARID3A | chr14:20584982-20585271 | K562 | blood: | n/a | n/a |
7 | ARID3A | chr14:20346241-20346527 | K562 | blood: | n/a | n/a |
8 | ATF1 | chr14:20388271-20388560 | K562 | blood: | n/a | n/a |
9 | ATF1 | chr14:20319622-20319703 | K562 | blood: | n/a | n/a |
10 | ATF1 | chr14:20374096-20374405 | K562 | blood: | n/a | n/a |
11 | ATF1 | chr14:20608626-20608778 | K562 | blood: | n/a | n/a |
12 | ATF1 | chr14:20645594-20645932 | K562 | blood: | n/a | n/a |
13 | ATF1 | chr14:20561670-20561913 | K562 | blood: | n/a | n/a |
14 | ATF1 | chr14:20584956-20585164 | K562 | blood: | n/a | n/a |
15 | ATF1 | chr14:20325048-20325100 | K562 | blood: | n/a | n/a |
16 | ATF3 | chr14:20645584-20645910 | K562 | blood: | n/a | n/a |
17 | ATF3 | chr14:20638032-20638356 | K562 | blood: | n/a | n/a |
18 | ATF3 | chr14:20584968-20585229 | K562 | blood: | n/a | n/a |
19 | ATF3 | chr14:20512489-20512787 | K562 | blood: | n/a | n/a |
20 | BACH1 | chr14:20687217-20687569 | K562 | blood: | n/a | chr14:20687387-20687401 |
21 | BACH1 | chr14:20584638-20585505 | K562 | blood: | n/a | n/a |
22 | BACH1 | chr14:20687322-20687431 | H1-hESC | embryonic stem cell: | n/a | chr14:20687387-20687401 |
23 | BACH1 | chr14:20348120-20348235 | K562 | blood: | n/a | n/a |
24 | BHLHE40 | chr14:20653018-20653080 | K562 | blood: | n/a | n/a |
25 | BHLHE40 | chr14:20645542-20646303 | K562 | blood: | n/a | n/a |
26 | BRCA1 | chr14:20716040-20716061 | H1-hESC | embryonic stem cell: | n/a | n/a |
27 | CBX3 | chr14:20512416-20512761 | K562 | blood: | n/a | n/a |
28 | CBX3 | chr14:20645515-20645980 | K562 | blood: | n/a | n/a |
29 | CBX3 | chr14:20586982-20587337 | K562 | blood: | n/a | n/a |
30 | CBX3 | chr14:20586942-20587293 | K562 | blood: | n/a | n/a |
31 | CBX3 | chr14:20584916-20585201 | K562 | blood: | n/a | n/a |
32 | CBX3 | chr14:20450329-20450560 | K562 | blood: | n/a | n/a |
33 | CBX3 | chr14:20632642-20632904 | K562 | blood: | n/a | n/a |
34 | CBX3 | chr14:20632656-20632932 | K562 | blood: | n/a | n/a |
35 | CBX3 | chr14:20645492-20645863 | K562 | blood: | n/a | n/a |
36 | CCNT2 | chr14:20516381-20516636 | K562 | blood: | n/a | n/a |
37 | CCNT2 | chr14:20645714-20646195 | K562 | blood: | n/a | n/a |
38 | CCNT2 | chr14:20677752-20678071 | K562 | blood: | n/a | n/a |
39 | CEBPB | chr14:20659063-20659394 | HepG2 | liver: | n/a | chr14:20659228-20659241 chr14:20659229-20659240 chr14:20659227-20659244 |
40 | CEBPB | chr14:20347421-20347704 | K562 | blood: | n/a | n/a |
41 | CEBPB | chr14:20683369-20683682 | IMR90 | lung: | n/a | chr14:20683523-20683534 |
42 | CEBPB | chr14:20439816-20439966 | A549 | lung: | n/a | chr14:20439867-20439880 chr14:20439867-20439878 chr14:20439867-20439880 chr14:20439868-20439879 |
43 | CEBPB | chr14:20638948-20639275 | HepG2 | liver: | n/a | chr14:20639103-20639114 |
44 | CEBPB | chr14:20374855-20375196 | IMR90 | lung: | n/a | chr14:20375036-20375045 chr14:20375036-20375047 chr14:20375036-20375045 chr14:20375034-20375045 chr14:20375036-20375045 chr14:20375034-20375047 chr14:20375036-20375047 chr14:20375036-20375045 chr14:20375034-20375047 |
45 | CEBPB | chr14:20370608-20370903 | IMR90 | lung: | n/a | chr14:20370744-20370755 chr14:20370732-20370743 |
46 | CEBPB | chr14:20374900-20375169 | HepG2 | liver: | n/a | chr14:20375036-20375045 chr14:20375036-20375047 chr14:20375036-20375045 chr14:20375034-20375045 chr14:20375036-20375045 chr14:20375034-20375047 chr14:20375036-20375047 chr14:20375036-20375045 chr14:20375034-20375047 |
47 | CEBPB | chr14:20578686-20578922 | Hela-S3 | cervix: | n/a | n/a |
48 | CEBPB | chr14:20365988-20366164 | HepG2 | liver: | n/a | n/a |
49 | CEBPB | chr14:20522008-20522207 | HepG2 | liver: | n/a | chr14:20522084-20522095 |
50 | CEBPB | chr14:20683376-20683687 | A549 | lung: | n/a | chr14:20683523-20683534 |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr14:20404281-20404331 | SKMC | muscle: | n/a |
2 | chr14:20404281-20404331 | SKMC | muscle: | n/a |
3 | chr14:20295005-20295055 | HL-60 | blood: | n/a |
4 | chr14:20710315-20710365 | GM12878 | blood: | n/a |
5 | chr14:20344920-20344970 | HRE | kidney: | n/a |
6 | chr14:20611696-20611746 | NB4 | blood: | n/a |
7 | chr14:20585753-20585803 | HIPEpiC | eye: | n/a |
8 | chr14:20586367-20586417 | GM19239 | blood: | n/a |
9 | chr14:20403239-20403289 | GM12892 | blood: | n/a |
10 | chr14:20482899-20482949 | NHBE | bronchial: | n/a |
11 | chr14:20295616-20295666 | NH-A | brain: | n/a |
12 | chr14:20389177-20389227 | HAEpiC | amniotic membrane: | n/a |
13 | chr14:20710881-20710931 | HCT-116 | colon: | n/a |
14 | chr14:20247697-20247747 | HEK293 | kidney: | embryo |
15 | chr14:20295616-20295666 | SKMC | muscle: | n/a |
16 | chr14:20295005-20295055 | NH-A | brain: | n/a |
17 | chr14:20404281-20404331 | BE2_C | brain: | n/a |
18 | chr14:20611696-20611746 | HEEpiC | esophagus: | n/a |
19 | chr14:20389177-20389227 | MCF10A-Er-Src | breast: | n/a |
20 | chr14:20585753-20585803 | HCM | heart: | n/a |
21 | chr14:20611779-20611829 | HL-60 | blood: | n/a |
22 | chr14:20403845-20403895 | HRE | kidney: | n/a |
23 | chr14:20502658-20502708 | HIPEpiC | eye: | n/a |
24 | chr14:20344920-20344970 | Jurkat | blood: | n/a |
25 | chr14:20711344-20711394 | Jurkat | blood: | n/a |
26 | chr14:20611696-20611746 | HCPEpiC | choroid plexus: | n/a |
27 | chr14:20666088-20666138 | HL-60 | blood: | n/a |
28 | chr14:20215980-20216030 | BJ | skin: | n/a |
29 | chr14:20611696-20611746 | NH-A | brain: | n/a |
30 | chr14:20584239-20584289 | BJ | skin: | n/a |
31 | chr14:20710881-20710931 | HEEpiC | esophagus: | n/a |
32 | chr14:20482899-20482949 | HCT-116 | colon: | n/a |
33 | chr14:20344083-20344133 | NHDF-neo | bronchial: | n/a |
34 | chr14:20215980-20216030 | SK-N-SH_RA | brain: | n/a |
35 | chr14:20611696-20611746 | GM12892 | blood: | n/a |
36 | chr14:20404281-20404331 | Hela-S3 | cervix: | n/a |
37 | chr14:20502658-20502708 | Hela-S3 | cervix: | n/a |
38 | chr14:20344920-20344970 | HUVEC | blood vessel: | n/a |
39 | chr14:20664580-20664630 | NHBE | bronchial: | n/a |
40 | chr14:20612220-20612270 | ovcar-3 | ovarian: | n/a |
41 | chr14:20295616-20295666 | HRCEpiC | kidney: | n/a |
42 | chr14:20344394-20344444 | MCF10A-Er-Src | breast: | n/a |
43 | chr14:20710905-20710955 | SK-N-MC | brain: | n/a |
44 | chr14:20666088-20666138 | HRCEpiC | kidney: | n/a |
45 | chr14:20247697-20247747 | ProgFib | skin: | n/a |
46 | chr14:20344083-20344133 | HCT-116 | colon: | n/a |
47 | chr14:20444164-20444214 | HCT-116 | colon: | n/a |
48 | chr14:20215980-20216030 | HCF | heart: | n/a |
49 | chr14:20664021-20664071 | HUVEC | blood vessel: | n/a |
50 | chr14:20344920-20344970 | SK-N-MC | brain: | n/a |
(count:38 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr14:20653449..20656373-chr14:20661305..20663533,2 | MCF-7 | breast: | |
2 | chr14:20611730..20613442-chr14:20616450..20619196,2 | K562 | blood: | |
3 | chr14:20674085..20677001-chr14:20687478..20690164,2 | MCF-7 | breast: | |
4 | chr14:20615947..20618319-chr14:20622650..20625486,3 | K562 | blood: | |
5 | chr14:20578711..20580377-chr14:20580738..20583327,2 | K562 | blood: | |
6 | chr14:20382435..20385861-chr14:20389212..20390807,3 | K562 | blood: | |
7 | chr14:20691139..20693631-chr14:20695657..20698105,2 | K562 | blood: | |
8 | chr14:20330082..20332945-chr14:20336237..20338891,2 | K562 | blood: | |
9 | chr14:20653650..20655621-chr14:20656798..20658985,2 | K562 | blood: | |
10 | chr14:20691139..20693631-chr14:20695657..20698105,2 | K562 | blood: | |
11 | chr14:20623640..20625607-chr14:20644962..20647182,2 | K562 | blood: | |
12 | chr14:20623640..20625607-chr14:20644962..20647182,2 | K562 | blood: | |
13 | chr14:20645666..20648683-chr14:20649468..20653312,5 | K562 | blood: | |
14 | chr14:20518924..20521802-chr14:20525808..20527615,2 | K562 | blood: | |
15 | chr14:20518924..20521802-chr14:20525808..20527615,2 | K562 | blood: | |
16 | chr14:20479309..20481272-chr14:20484820..20486760,2 | K562 | blood: | |
17 | chr14:20645875..20648132-chr14:20651152..20653312,3 | K562 | blood: | |
18 | chr14:20657790..20659854-chr14:20660139..20662743,2 | K562 | blood: | |
19 | chr14:20653650..20655621-chr14:20656798..20658985,2 | K562 | blood: | |
20 | chr14:20530040..20532845-chr14:20547946..20550280,2 | K562 | blood: | |
21 | chr14:20611730..20613442-chr14:20616450..20619196,2 | K562 | blood: | |
22 | chr14:20421291..20423829-chr14:20424473..20427279,2 | MCF-7 | breast: | |
23 | chr14:20530040..20532845-chr14:20547946..20550280,2 | K562 | blood: | |
24 | chr14:20615947..20618319-chr14:20622650..20625017,2 | K562 | blood: | |
25 | chr14:20649377..20653239-chr14:20653513..20656414,3 | K562 | blood: | |
26 | chr14:20623957..20624479-chr3:64655642..64656615,2 | MCF-7 | breast: | |
27 | chr14:20453392..20455779-chr14:20560575..20562246,2 | K562 | blood: | |
28 | chr14:20649377..20653239-chr14:20653513..20656414,3 | K562 | blood: | |
29 | chr14:20674085..20677001-chr14:20687478..20690164,2 | MCF-7 | breast: | |
30 | chr14:20479309..20481272-chr14:20484820..20486760,2 | K562 | blood: | |
31 | chr14:20642540..20645135-chr14:20796578..20798741,2 | K562 | blood: | |
32 | chr14:20578711..20580377-chr14:20580738..20583327,2 | K562 | blood: | |
33 | chr14:20382435..20385861-chr14:20389212..20390807,3 | K562 | blood: | |
34 | chr14:20653449..20656373-chr14:20661305..20663533,2 | MCF-7 | breast: | |
35 | chr14:20378405..20379102-chr22:33621834..33622612,2 | MCF-7 | breast: | |
36 | chr14:20657790..20659854-chr14:20660139..20662743,2 | K562 | blood: | |
37 | chr14:20582658..20584245-chr14:20584576..20586426,2 | K562 | blood: | |
38 | chr14:20583619..20586533-chr14:20649310..20650931,2 | K562 | blood: |
(count:2 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-OR4N5-1 | chr14:20617391-20617904 | NONHSAT035552 |
2 | lnc-OR4K14-1 | chr14:20376255-20376808 | NONHSAT035546 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000265199 | TF binding region |
OR11K2P | TF binding region |
ENSG00000259016 | TF binding region |
OR4T1P | TF binding region |
OR4K5 | TF binding region |
OR4K15 | TF binding region |
OR11G2 | TF binding region |
OR4N1P | TF binding region |
OR4L1 | TF binding region |
OR4Q2 | TF binding region |
RNA5SP380 | TF binding region |
OR11H6 | TF binding region |
OR4Q3 | TF binding region |
OR4K13 | TF binding region |
OR4K4P | TF binding region |
OR4N5 | TF binding region |
OR4K17 | TF binding region |
OR4K3 | TF binding region |
OR4H12P | TF binding region |
OR4K6P | TF binding region |
ENSG00000238492 | TF binding region |
OR4K16P | TF binding region |
OR11H5P | TF binding region |
OR4K14 | TF binding region |
OR4U1P | TF binding region |
RNA5SP381 | TF binding region |
OR11H4 | TF binding region |
ENSG00000259095 | TF binding region |
OR4N2 | TF binding region |
OR4K1 | TF binding region |
OR11H7 | TF binding region |
OR4K2 | TF binding region |
ENSG00000266336 | TF binding region |
OR4M1 | TF binding region |
OR11G1P | TF binding region |
PSMB7P1 | TF binding region |
ENSG00000265199 | CpG island |
OR11K2P | CpG island |
ENSG00000259016 | CpG island |
OR4T1P | CpG island |
OR4K5 | CpG island |
OR4K15 | CpG island |
OR11G2 | CpG island |
OR4N1P | CpG island |
OR4L1 | CpG island |
OR4Q2 | CpG island |
RNA5SP380 | CpG island |
OR11H6 | CpG island |
OR4Q3 | CpG island |
OR4K13 | CpG island |
OR4K4P | CpG island |
OR4N5 | CpG island |
OR4K17 | CpG island |
OR4K3 | CpG island |
OR4H12P | CpG island |
OR4K6P | CpG island |
ENSG00000238492 | CpG island |
OR4K16P | CpG island |
OR11H5P | CpG island |
OR4K14 | CpG island |
OR4U1P | CpG island |
RNA5SP381 | CpG island |
OR11H4 | CpG island |
ENSG00000259095 | CpG island |
OR4N2 | CpG island |
OR4K1 | CpG island |
OR11H7 | CpG island |
OR4K2 | CpG island |
ENSG00000266336 | CpG island |
OR4M1 | CpG island |
OR11G1P | CpG island |
PSMB7P1 | CpG island |
ENSG00000259074 | chromatin interactions |
ENSG00000176290 | chromatin interactions |
ENSG00000100814 | chromatin interactions |
ENSG00000176230 | chromatin interactions |
ENSG00000258468 | chromatin interactions |
ENSG00000258822 | chromatin interactions |
ENSG00000258806 | chromatin interactions |
ENSG00000176219 | chromatin interactions |
ENSG00000258641 | chromatin interactions |
ENSG00000184394 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs4983173 | chr14:20203125-20203126 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs558129192 | chr14:20203126-20203127 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
3 | rs145688049 | chr14:20203165-20203166 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
4 | rs543802490 | chr14:20203180-20203181 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
5 | rs544806420 | chr14:20203189-20203190 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
6 | rs529420591 | chr14:20203190-20203191 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
7 | rs115531184 | chr14:20203219-20203220 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
8 | rs559613776 | chr14:20203254-20203255 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
9 | rs533251715 | chr14:20203272-20203273 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
10 | rs551424918 | chr14:20203293-20203294 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
11 | rs180718476 | chr14:20203333-20203334 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
12 | rs12893033 | chr14:20203358-20203359 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
13 | rs560578767 | chr14:20203847-20203848 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs376974997 | chr14:20203854-20203855 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs556230927 | chr14:20210880-20210881 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs150303664 | chr14:20210889-20210890 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs370527013 | chr14:20210933-20210934 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs561475754 | chr14:20211007-20211008 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs573318820 | chr14:20211016-20211017 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs374056498 | chr14:20211047-20211048 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs538231885 | chr14:20211051-20211052 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs540826899 | chr14:20211075-20211076 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs558789362 | chr14:20211126-20211127 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs577150790 | chr14:20211148-20211149 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs137965263 | chr14:20211149-20211150 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs562586982 | chr14:20211159-20211160 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs572334447 | chr14:20211203-20211204 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs10872867 | chr14:20211239-20211240 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs560637145 | chr14:20211317-20211318 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs554757790 | chr14:20211331-20211332 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs146113702 | chr14:20211347-20211348 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs531002764 | chr14:20211785-20211786 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs374568556 | chr14:20211800-20211801 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs560348334 | chr14:20211843-20211844 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs71108551 | chr14:20213202-20213203 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
36 | rs185899098 | chr14:20213208-20213209 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
37 | rs529474575 | chr14:20213224-20213225 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
38 | rs547479258 | chr14:20213228-20213229 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
39 | rs140192569 | chr14:20213239-20213240 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
40 | rs566269018 | chr14:20213255-20213256 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
41 | rs373571953 | chr14:20213272-20213273 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
42 | rs375724725 | chr14:20213275-20213276 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
43 | rs539810160 | chr14:20213304-20213305 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
44 | rs142254252 | chr14:20213315-20213316 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
45 | rs191542156 | chr14:20213350-20213351 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
46 | rs537580713 | chr14:20213355-20213356 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
47 | rs555586598 | chr14:20213400-20213401 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
48 | rs150826855 | chr14:20213438-20213439 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
49 | rs71408383 | chr14:20213461-20213462 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
50 | rs553198254 | chr14:20213515-20213516 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Cancer | 20164920 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Retinoblastoma | 21504564 | CNVD |
High-proliferative meningiomas | 17937814 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Autism | 22495311 | CNVD |
Cone-rod dystrophy | 18421352 | CNVD |
T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Melanoma | 18172304 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Oral cancer | 21386901 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Breast cancer | 17899364 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Neuroblastoma | 19435921 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Gastrointestinal stromal cancer | 17535989 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Paraganglioma | 17535989 | CNVD |
Pulmonary chondroma | 17535989 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Alzheimer''s disease | 21482944 | CNVD |
Mental retardation | 19951919 | CNVD |
Neuroblastoma | 21899760 | CNVD |
Cutaneous T-cell lymphoma | 21881587 | CNVD |
Heart disease | 21282601 | CNVD |
Esophageal cancer | 20955586 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Lung cancer | 16773561 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Cancer | 17440070 | CNVD |
Breast cancer | 16272173 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Epilepsy | 20736978 | CNVD |
Mental retardation | 20736978 | CNVD |
severe speech impairment | 20736978 | CNVD |
speech impairment | 20736978 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Developmental delay | 21147756 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Lung cancer | 18438408 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Breast cancer | 21364760 | CNVD |
Prostate cancer | 18632612 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Chronic myeloid leukemia | 20724749 | CNVD |
Breast cancer | 21509527 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Ependymoma | 20639864 | CNVD |
Autism | 20531469 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Non-syndromic sensorineural hearing loss | 17431168 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr14:20201600-20203400 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
2 | chr14:20210800-20211400 | Enhancers | Pancreatic Islets | Pancreatic Islet |
3 | chr14:20213200-20215400 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
4 | chr14:20214000-20214800 | ZNF genes & repeats | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
5 | chr14:20214200-20215400 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
6 | chr14:20216000-20217600 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
7 | chr14:20218800-20220200 | Enhancers | Brain Angular Gyrus | brain |
8 | chr14:20219000-20220600 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
9 | chr14:20220800-20223200 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
10 | chr14:20228800-20229400 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
11 | chr14:20239000-20239800 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
12 | chr14:20239400-20240600 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
13 | chr14:20241400-20242200 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
14 | chr14:20251200-20252000 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
15 | chr14:20255000-20255200 | Enhancers | Primary mononuclear cells fromperipheralblood | Blood |
16 | chr14:20266600-20266800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
17 | chr14:20268000-20269200 | ZNF genes & repeats | Foreskin Fibroblast Primary Cells skin02 | Skin |
18 | chr14:20268000-20269400 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
19 | chr14:20268000-20269600 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
20 | chr14:20268000-20269600 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
21 | chr14:20268400-20268600 | Flanking Active TSS | Brain Cingulate Gyrus | brain |
22 | chr14:20268400-20268600 | Bivalent Enhancer | Brain Inferior Temporal Lobe | brain |
23 | chr14:20268400-20269000 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
24 | chr14:20268600-20269200 | Bivalent/Poised TSS | Brain Inferior Temporal Lobe | brain |
25 | chr14:20269000-20269200 | ZNF genes & repeats | Foreskin Melanocyte Primary Cells skin01 | Skin |
26 | chr14:20269200-20269600 | Active TSS | Brain Inferior Temporal Lobe | brain |
27 | chr14:20269400-20269600 | Flanking Bivalent TSS/Enh | Brain Dorsolateral Prefrontal Cortex | brain |
28 | chr14:20273000-20275200 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
29 | chr14:20274600-20275000 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
30 | chr14:20281200-20281400 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
31 | chr14:20281400-20281800 | Active TSS | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
32 | chr14:20281400-20281800 | Flanking Active TSS | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
33 | chr14:20281800-20282600 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
34 | chr14:20291000-20291600 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
35 | chr14:20291400-20292800 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
36 | chr14:20291600-20291800 | Flanking Active TSS | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
37 | chr14:20291600-20292800 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
38 | chr14:20291800-20292200 | Active TSS | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
39 | chr14:20291800-20292800 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
40 | chr14:20292200-20292400 | Flanking Active TSS | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
41 | chr14:20292400-20293200 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
42 | chr14:20295000-20295400 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
43 | chr14:20296400-20297000 | Active TSS | Pancreatic Islets | Pancreatic Islet |
44 | chr14:20297000-20297200 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
45 | chr14:20297200-20298200 | Enhancers | Pancreatic Islets | Pancreatic Islet |
46 | chr14:20298200-20300800 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
47 | chr14:20300800-20301000 | Enhancers | Pancreatic Islets | Pancreatic Islet |
48 | chr14:20300800-20302400 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
49 | chr14:20302200-20303400 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
50 | chr14:20302200-20304400 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |