Variant report
Variant | nsv1049212 |
---|---|
Chromosome Location | chr14:19464181-20423360 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:4801)
- CpG islands (count:4764)
- Chromatin interactive region (count:5)
- LncRNA region (count:250)
- Mature miRNA region (count: 0)
- miRNA target sites (count:1)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | ARID3A | chr14:20387153-20387455 | HepG2 | liver: | n/a | n/a |
2 | ARID3A | chr14:20346227-20346537 | HepG2 | liver: | n/a | n/a |
3 | ARID3A | chr14:20346241-20346527 | K562 | blood: | n/a | n/a |
4 | ARID3A | chr14:19614565-19614964 | K562 | blood: | n/a | n/a |
5 | ATF1 | chr14:19795048-19796237 | K562 | blood: | n/a | n/a |
6 | ATF1 | chr14:19792967-19794009 | K562 | blood: | n/a | n/a |
7 | ATF1 | chr14:19610591-19610826 | K562 | blood: | n/a | n/a |
8 | ATF1 | chr14:20319622-20319703 | K562 | blood: | n/a | n/a |
9 | ATF1 | chr14:20374096-20374405 | K562 | blood: | n/a | n/a |
10 | ATF1 | chr14:19614523-19614771 | K562 | blood: | n/a | n/a |
11 | ATF1 | chr14:19697695-19697910 | K562 | blood: | n/a | n/a |
12 | ATF1 | chr14:20325048-20325100 | K562 | blood: | n/a | n/a |
13 | ATF1 | chr14:19619825-19620010 | K562 | blood: | n/a | n/a |
14 | ATF1 | chr14:19609027-19609227 | K562 | blood: | n/a | n/a |
15 | ATF1 | chr14:20388271-20388560 | K562 | blood: | n/a | n/a |
16 | ATF1 | chr14:19464826-19465023 | K562 | blood: | n/a | n/a |
17 | ATF3 | chr14:19614578-19614850 | K562 | blood: | n/a | n/a |
18 | BACH1 | chr14:19614506-19614753 | K562 | blood: | n/a | n/a |
19 | BACH1 | chr14:19795663-19796213 | K562 | blood: | n/a | n/a |
20 | BACH1 | chr14:19464051-19464239 | K562 | blood: | n/a | n/a |
21 | BACH1 | chr14:19608951-19609223 | K562 | blood: | n/a | n/a |
22 | BACH1 | chr14:20348120-20348235 | K562 | blood: | n/a | n/a |
23 | BATF | chr14:19637509-19637829 | GM12878 | blood: | n/a | chr14:19637679-19637690 |
24 | BATF | chr14:19748478-19748726 | GM12878 | blood: | n/a | n/a |
25 | BATF | chr14:19546952-19547321 | GM12878 | blood: | n/a | n/a |
26 | BATF | chr14:19653590-19653843 | GM12878 | blood: | n/a | n/a |
27 | BATF | chr14:19548118-19548363 | GM12878 | blood: | n/a | n/a |
28 | BATF | chr14:20026256-20026650 | GM12878 | blood: | n/a | n/a |
29 | BATF | chr14:19586478-19586681 | GM12878 | blood: | n/a | n/a |
30 | BATF | chr14:19637495-19637851 | GM12878 | blood: | n/a | chr14:19637679-19637690 |
31 | BATF | chr14:19487460-19487744 | GM12878 | blood: | n/a | n/a |
32 | BATF | chr14:20131255-20131487 | GM12878 | blood: | n/a | n/a |
33 | BATF | chr14:19937525-19937845 | GM12878 | blood: | n/a | chr14:19937698-19937709 |
34 | BATF | chr14:19541408-19541756 | GM12878 | blood: | n/a | n/a |
35 | BATF | chr14:19937503-19937859 | GM12878 | blood: | n/a | chr14:19937698-19937709 |
36 | BATF | chr14:20025214-20025459 | GM12878 | blood: | n/a | n/a |
37 | BATF | chr14:19548036-19548546 | GM12878 | blood: | n/a | n/a |
38 | BATF | chr14:20085953-20086237 | GM12878 | blood: | n/a | n/a |
39 | BATF | chr14:19827024-19827305 | GM12878 | blood: | n/a | n/a |
40 | BATF | chr14:20025031-20025541 | GM12878 | blood: | n/a | n/a |
41 | BATF | chr14:20031700-20032016 | GM12878 | blood: | n/a | n/a |
42 | BATF | chr14:19921485-19921738 | GM12878 | blood: | n/a | n/a |
43 | BATF | chr14:19986920-19987123 | GM12878 | blood: | n/a | n/a |
44 | BATF | chr14:19541484-19541694 | GM12878 | blood: | n/a | n/a |
45 | BCL11A | chr14:19548084-19548501 | GM12878 | blood: | n/a | chr14:19548252-19548261 |
46 | BCL11A | chr14:19826657-19827003 | GM12878 | blood: | n/a | n/a |
47 | BCL11A | chr14:19819837-19820033 | GM12878 | blood: | n/a | n/a |
48 | BCL11A | chr14:19827491-19827723 | GM12878 | blood: | n/a | n/a |
49 | BCL11A | chr14:19747489-19747677 | GM12878 | blood: | n/a | n/a |
50 | BCL11A | chr14:20084307-20084477 | GM12878 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr14:19855384-19855434 | PFSK-1 | brain: | n/a |
2 | chr14:19614541-19614591 | H1-hESC | embryonic stem cell: | embryo |
3 | chr14:19960976-19961026 | AG09319 | gingival: | n/a |
4 | chr14:20404281-20404331 | MCF10A-Er-Src | breast: | n/a |
5 | chr14:19890087-19890137 | BE2_C | brain: | n/a |
6 | chr14:19747134-19747184 | GM12892 | blood: | n/a |
7 | chr14:19855384-19855434 | PFSK-1 | brain: | n/a |
8 | chr14:19614541-19614591 | H1-hESC | embryonic stem cell: | embryo |
9 | chr14:19960976-19961026 | AG09319 | gingival: | n/a |
10 | chr14:20404281-20404331 | MCF10A-Er-Src | breast: | n/a |
11 | chr14:19890087-19890137 | BE2_C | brain: | n/a |
12 | chr14:19747134-19747184 | GM12892 | blood: | n/a |
13 | chr14:20389177-20389227 | HCM | heart: | n/a |
14 | chr14:19647166-19647216 | MCF10A-Er-Src | breast: | n/a |
15 | chr14:19828288-19828338 | HNPCEpiC | eye: | n/a |
16 | chr14:20389177-20389227 | AoSMC | blood vessel: | n/a |
17 | chr14:19647166-19647216 | SK-N-SH | brain: | n/a |
18 | chr14:19719117-19719167 | NT2-D1 | testis: | n/a |
19 | chr14:19614556-19614606 | RPTEC | kidney: | n/a |
20 | chr14:19950047-19950097 | PFSK-1 | brain: | n/a |
21 | chr14:20136693-20136743 | H1-hESC | embryonic stem cell: | embryo |
22 | chr14:20344920-20344970 | HepG2 | liver: | n/a |
23 | chr14:19597077-19597127 | AG09319 | gingival: | n/a |
24 | chr14:20344083-20344133 | Hepatocyte | liver: | n/a |
25 | chr14:19614541-19614591 | ECC-1 | luminal epithelium: | n/a |
26 | chr14:19828288-19828338 | AG04450 | lung: | fetal |
27 | chr14:19932946-19932996 | H1-hESC | embryonic stem cell: | embryo |
28 | chr14:20344394-20344444 | PrEC | prostate: | n/a |
29 | chr14:20146493-20146543 | SAEC | small airway: | n/a |
30 | chr14:19855384-19855434 | H1-hESC | embryonic stem cell: | embryo |
31 | chr14:20020024-20020074 | NHDF-neo | bronchial: | n/a |
32 | chr14:20020024-20020074 | HCPEpiC | choroid plexus: | n/a |
33 | chr14:20344083-20344133 | AoSMC | blood vessel: | n/a |
34 | chr14:20137365-20137415 | AG04450 | lung: | fetal |
35 | chr14:20012038-20012088 | AoSMC | blood vessel: | n/a |
36 | chr14:20148103-20148153 | NHDF-neo | bronchial: | n/a |
37 | chr14:19962440-19962490 | MCF10A-Er-Src | breast: | n/a |
38 | chr14:19888327-19888377 | Hepatocyte | liver: | n/a |
39 | chr14:19597077-19597127 | PANC-1 | pancreas: | n/a |
40 | chr14:19594171-19594221 | SK-N-SH | brain: | n/a |
41 | chr14:20146493-20146543 | RPTEC | kidney: | n/a |
42 | chr14:20147187-20147237 | GM12878 | blood: | n/a |
43 | chr14:20012038-20012088 | Caco-2 | colon: | n/a |
44 | chr14:20020024-20020074 | HIPEpiC | eye: | n/a |
45 | chr14:19647166-19647216 | SK-N-MC | brain: | n/a |
46 | chr14:19626001-19626051 | BJ | skin: | n/a |
47 | chr14:19888629-19888679 | HAEpiC | amniotic membrane: | n/a |
48 | chr14:20215980-20216030 | HEK293 | kidney: | embryo |
49 | chr14:19686672-19686722 | HepG2 | liver: | n/a |
50 | chr14:19625820-19625870 | GM12892 | blood: | n/a |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr14:20382435..20385861-chr14:20389212..20390807,3 | K562 | blood: | |
2 | chr14:20382435..20385861-chr14:20389212..20390807,3 | K562 | blood: | |
3 | chr14:20421291..20423829-chr14:20424473..20427279,2 | MCF-7 | breast: | |
4 | chr14:20378405..20379102-chr22:33621834..33622612,2 | MCF-7 | breast: | |
5 | chr14:20330082..20332945-chr14:20336237..20338891,2 | K562 | blood: |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-POTEM-1 | chr14:19963420-19963689 | ENSG00000257931 |
2 | lnc-POTEM-2 | chr14:19919138-19919273 | ENSG00000244306 |
3 | lnc-POTEM-7 | chr14:19673473-19673623 | ENSG00000228294 |
4 | lnc-POTEM-2 | chr14:19912015-19913438 | ENSG00000244306 |
5 | lnc-OR4N2-4 | chr14:19904259-19904572 | ENSG00000215394 |
6 | lnc-POTEG-4 | chr14:19653908-19654004 | ENSG00000225210 |
7 | lnc-POTEM-1 | chr14:19955880-19955945 | ENSG00000257931 |
8 | lnc-POTEM-2 | chr14:19894700-19894790 | ENSG00000244306 |
9 | lnc-POTEM-6 | chr14:19887445-19887497 | ENSG00000257898.1 |
10 | lnc-POTEM-12 | chr14:19806437-19807415 | NONHSAT035495 |
11 | lnc-POTEM-2 | chr14:19921359-19921470 | ENSG00000244306 |
12 | lnc-POTEG-6 | chr14:19561994-19562100 | NR_027480 |
13 | lnc-POTEM-2 | chr14:19921359-19921470 | ENSG00000244306 |
14 | lnc-POTEM-2 | chr14:19919138-19919273 | ENSG00000244306 |
15 | lnc-POTEG-4 | chr14:19718326-19718379 | NONHSAT035478 |
16 | lnc-POTEG-7 | chr14:19595933-19596023 | NONHSAT035463 |
17 | lnc-POTEG-5 | chr14:19859457-19859970 | ENSG00000258188.1 |
18 | lnc-OR4N2-4 | chr14:19894369-19894691 | ENSG00000215394 |
19 | lnc-POTEG-4 | chr14:19652244-19652354 | ENSG00000225210 |
20 | lnc-POTEM-2 | chr14:19919138-19919158 | ENSG00000244306 |
21 | lnc-POTEG-5 | chr14:19812176-19812247 | ENSG00000258188.1 |
22 | lnc-POTEM-2 | chr14:19925240-19925300 | ENSG00000244306 |
23 | lnc-POTEM-2 | chr14:19919138-19919273 | NONHSAT035503 |
24 | lnc-POTEG-7 | chr14:19603658-19603689 | NONHSAT035463 |
25 | lnc-POTEM-2 | chr14:19892138-19892361 | ENSG00000244306 |
26 | lnc-POTEM-2 | chr14:19923013-19923123 | ENSG00000244306 |
27 | lnc-POTEG-4 | chr14:19680595-19680685 | ENSG00000225210 |
28 | lnc-POTEG-4 | chr14:19656089-19656228 | ENSG00000225210 |
29 | lnc-POTEG-4 | chr14:19656089-19656224 | ENSG00000225210 |
30 | lnc-POTEG-3 | chr14:19646572-19646644 | NONHSAT035469 |
31 | lnc-POTEM-2 | chr14:19882468-19884029 | NR_110526 |
32 | lnc-POTEM-2 | chr14:19882464-19884029 | ENSG00000244306 |
33 | lnc-POTEG-4 | chr14:19653723-19653772 | NONHSAT035478 |
34 | lnc-POTEM-2 | chr14:19921359-19921470 | NONHSAT035520 |
35 | lnc-POTEG-2 | chr14:19517501-19517607 | ENSG00000257891.1 |
36 | lnc-POTEM-2 | chr14:19925240-19925305 | ENSG00000244306 |
37 | lnc-POTEG-4 | chr14:19680591-19680685 | ENSG00000225210 |
38 | lnc-POTEG-4 | chr14:19653625-19653772 | NR_110526 |
39 | lnc-POTEM-2 | chr14:19883543-19884029 | ENSG00000244306 |
40 | lnc-POTEM-2 | chr14:19923013-19923123 | NONHSAT035521 |
41 | lnc-POTEM-2 | chr14:19923013-19923123 | NONHSAT035503 |
42 | lnc-POTEM-2 | chr14:19894700-19894790 | ENSG00000244306 |
43 | lnc-POTEM-2 | chr14:19921591-19921705 | NONHSAT035520 |
44 | lnc-POTEG-4 | chr14:19683336-19683870 | ENSG00000225210 |
45 | lnc-POTEM-8 | chr14:19563712-19564808 | NR_046571 |
46 | lnc-POTEG-4 | chr14:19650060-19650126 | ENSG00000225210 |
47 | lnc-POTEM-8 | chr14:19566286-19566680 | NR_046571 |
48 | lnc-POTEG-4 | chr14:19680595-19681519 | ENSG00000225210 |
49 | lnc-POTEM-2 | chr14:19921591-19921738 | NONHSAT035503 |
50 | lnc-POTEG-4 | chr14:19650018-19650126 | ENSG00000225210 |
No data |
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No. | miRNA target gene | miRNA name | Chromosome Location | mirBase accession |
---|---|---|---|---|
1 | POTEG | hsa-miR-26b-5p | chr14:19563442-19563464 |
Variant related genes | Relation type |
---|---|
ENSG00000259016 | TF binding region |
OR4K5 | TF binding region |
GRAMD4P3 | TF binding region |
ENSG00000244306 | TF binding region |
ENSG00000257142 | TF binding region |
ENSG00000258265 | TF binding region |
ENSG00000259069 | TF binding region |
OR4K4P | TF binding region |
ENSG00000257884 | TF binding region |
ENSG00000258324 | TF binding region |
OR4K3 | TF binding region |
ARHGAP42P4 | TF binding region |
ENSG00000238492 | TF binding region |
OR4K16P | TF binding region |
ENSG00000257573 | TF binding region |
ENSG00000257846 | TF binding region |
BMS1P18 | TF binding region |
OR11H2 | TF binding region |
ENSG00000257357 | TF binding region |
ENSG00000257868 | TF binding region |
OR4N2 | TF binding region |
ENSG00000258314 | TF binding region |
OR11H13P | TF binding region |
ENSG00000258027 | TF binding region |
OR4K1 | TF binding region |
ENSG00000258198 | TF binding region |
MED15P6 | TF binding region |
RNU6-1239P | TF binding region |
OR4M1 | TF binding region |
BMS1P17 | TF binding region |
ENSG00000258781 | TF binding region |
ENSG00000258252 | TF binding region |
NF1P4 | TF binding region |
OR11K2P | TF binding region |
ENSG00000257891 | TF binding region |
ENSG00000257395 | TF binding region |
OR4N1P | TF binding region |
ENSG00000257493 | TF binding region |
OR4Q3 | TF binding region |
ENSG00000258276 | TF binding region |
ENSG00000271632 | TF binding region |
MED15P1 | TF binding region |
OR4H12P | TF binding region |
ENSG00000257931 | TF binding region |
ENSG00000257635 | TF binding region |
OR4K6P | TF binding region |
ENSG00000239200 | TF binding region |
ENSG00000225210 | TF binding region |
ENSG00000257310 | TF binding region |
GRAMD4P4 | TF binding region |
ENSG00000257224 | TF binding region |
ENSG00000257751 | TF binding region |
RNU6-1268P | TF binding region |
ENSG00000257749 | TF binding region |
ENSG00000258188 | TF binding region |
ENSG00000257977 | TF binding region |
ENSG00000257432 | TF binding region |
POTEM | TF binding region |
OR4K2 | TF binding region |
POTEG | TF binding region |
DUXAP10 | TF binding region |
ENSG00000259016 | CpG island |
OR4K5 | CpG island |
GRAMD4P3 | CpG island |
ENSG00000244306 | CpG island |
ENSG00000257142 | CpG island |
ENSG00000258265 | CpG island |
ENSG00000259069 | CpG island |
OR4K4P | CpG island |
ENSG00000257884 | CpG island |
ENSG00000258324 | CpG island |
OR4K3 | CpG island |
ARHGAP42P4 | CpG island |
ENSG00000238492 | CpG island |
OR4K16P | CpG island |
ENSG00000257573 | CpG island |
ENSG00000257846 | CpG island |
BMS1P18 | CpG island |
OR11H2 | CpG island |
ENSG00000257357 | CpG island |
ENSG00000257868 | CpG island |
OR4N2 | CpG island |
ENSG00000258314 | CpG island |
OR11H13P | CpG island |
ENSG00000258027 | CpG island |
OR4K1 | CpG island |
ENSG00000258198 | CpG island |
MED15P6 | CpG island |
RNU6-1239P | CpG island |
OR4M1 | CpG island |
BMS1P17 | CpG island |
ENSG00000258781 | CpG island |
ENSG00000258252 | CpG island |
NF1P4 | CpG island |
OR11K2P | CpG island |
ENSG00000257891 | CpG island |
ENSG00000257395 | CpG island |
OR4N1P | CpG island |
ENSG00000257493 | CpG island |
OR4Q3 | CpG island |
ENSG00000258276 | CpG island |
ENSG00000271632 | CpG island |
MED15P1 | CpG island |
OR4H12P | CpG island |
ENSG00000257931 | CpG island |
ENSG00000257635 | CpG island |
OR4K6P | CpG island |
ENSG00000239200 | CpG island |
ENSG00000225210 | CpG island |
ENSG00000257310 | CpG island |
GRAMD4P4 | CpG island |
ENSG00000257224 | CpG island |
ENSG00000257751 | CpG island |
RNU6-1268P | CpG island |
ENSG00000257749 | CpG island |
ENSG00000258188 | CpG island |
ENSG00000257977 | CpG island |
ENSG00000257432 | CpG island |
POTEM | CpG island |
OR4K2 | CpG island |
POTEG | CpG island |
DUXAP10 | CpG island |
ENSG00000176290 | chromatin interactions |
ENSG00000258822 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs549560827 | chr14:19464189-19464190 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs187765095 | chr14:19464224-19464225 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs28675955 | chr14:19464838-19464839 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
4 | rs569587060 | chr14:19464846-19464847 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs139125008 | chr14:19465613-19465614 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs189698252 | chr14:19465632-19465633 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs141717046 | chr14:19468392-19468393 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs180872899 | chr14:19468399-19468400 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs551358878 | chr14:19468443-19468444 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs75940277 | chr14:19468496-19468497 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs534208683 | chr14:19468517-19468518 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
12 | rs559073701 | chr14:19468518-19468519 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
13 | rs577534717 | chr14:19468557-19468558 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
14 | rs150859614 | chr14:19468581-19468582 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
15 | rs116428068 | chr14:19468590-19468591 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
16 | rs575246937 | chr14:19468592-19468593 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
17 | rs542201206 | chr14:19468600-19468601 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
18 | rs560311272 | chr14:19468608-19468609 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
19 | rs527767348 | chr14:19468656-19468657 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
20 | rs552408519 | chr14:19468664-19468665 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
21 | rs563913896 | chr14:19468667-19468668 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
22 | rs61969318 | chr14:19468678-19468679 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
23 | rs549626366 | chr14:19468692-19468693 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
24 | rs568006958 | chr14:19468711-19468712 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
25 | rs535430731 | chr14:19468716-19468717 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
26 | rs61969319 | chr14:19468734-19468735 | Inactive region | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
27 | rs565575093 | chr14:19468736-19468737 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
28 | rs539492137 | chr14:19468762-19468763 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
29 | rs557570027 | chr14:19468795-19468796 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
30 | rs577472706 | chr14:19468802-19468803 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
31 | rs186070376 | chr14:19468805-19468806 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
32 | rs556840855 | chr14:19468808-19468809 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
33 | rs575162189 | chr14:19468809-19468810 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
34 | rs139951710 | chr14:19468816-19468817 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
35 | rs560501468 | chr14:19468835-19468836 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
36 | rs572373945 | chr14:19468855-19468856 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
37 | rs546234575 | chr14:19468858-19468859 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
38 | rs564252277 | chr14:19468859-19468860 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
39 | rs60680698 | chr14:19476460-19476461 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs547626676 | chr14:19476467-19476468 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs566030963 | chr14:19476468-19476469 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs533475528 | chr14:19476476-19476477 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs551348310 | chr14:19476478-19476479 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs570051873 | chr14:19476479-19476480 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs537103157 | chr14:19476488-19476489 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs555839611 | chr14:19476492-19476493 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs567695184 | chr14:19476493-19476494 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs370833453 | chr14:19476510-19476511 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs553230362 | chr14:19476541-19476542 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs577985855 | chr14:19476555-19476556 | Inactive region | TF binding region | 1 gene(s) | 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 |
Schizophrenia | 20967226 | CNVD |
Autism | 19287141 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Breast cancer | 17142309 | CNVD |
Rett syndrome | 21593744 | CNVD |
Breast cancer | 20369283 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Incontinentia Pigmenti | 22033527 | 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 |
Breast cancer | 21364760 | CNVD |
Oligozoospermia | 20877625 | CNVD |
Sertoli-cell only syndrome | 20877625 | CNVD |
Williams Syndrome | 20824207 | CNVD |
Developmental delay | 21147756 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Lung cancer | 18438408 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Breast cancer | 22522925 | CNVD |
Prostate cancer | 18632612 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Ependymoma | 20639864 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Non-syndromic sensorineural hearing loss | 19587683 | CNVD |
Glioma | 20126413 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Schizophrenia | 23813976 | CNVD |
Chronic myeloid leukemia | 20724749 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Breast cancer | 21509527 | CNVD |
Amyotrophic lateral sclerosis | 20685689 | CNVD |
Autism | 20531469 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Ovarian cancer | 21720365 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr14:19500000-19500200 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
2 | chr14:19597000-19597600 | ZNF genes & repeats | iPS DF 6.9 Cell Line | embryonic stem cell |
3 | chr14:19597200-19597600 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
4 | chr14:19607400-19609600 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
5 | chr14:19608600-19609200 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
6 | chr14:19610800-19612800 | Weak transcription | Fetal Lung | lung |
7 | chr14:19611000-19611200 | Enhancers | Lung | lung |
8 | chr14:19611200-19612800 | Weak transcription | Lung | lung |
9 | chr14:19612600-19615200 | Weak transcription | Right Atrium | heart |
10 | chr14:19612800-19613400 | ZNF genes & repeats | Fetal Kidney | kidney |
11 | chr14:19612800-19613400 | ZNF genes & repeats | Fetal Lung | lung |
12 | chr14:19612800-19613400 | ZNF genes & repeats | Lung | lung |
13 | chr14:19613000-19613200 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
14 | chr14:19613000-19613200 | ZNF genes & repeats | Gastric | stomach |
15 | chr14:19613000-19613200 | Bivalent Enhancer | K562 | blood |
16 | chr14:19613000-19613400 | ZNF genes & repeats | H1 Derived Mesenchymal Stem Cells | ES cell derived |
17 | chr14:19613000-19613400 | ZNF genes & repeats | H9 Cell Line | embryonic stem cell |
18 | chr14:19613000-19613400 | ZNF genes & repeats | iPS DF 6.9 Cell Line | embryonic stem cell |
19 | chr14:19613000-19613400 | ZNF genes & repeats | Fetal Brain Male | brain |
20 | chr14:19613000-19613400 | ZNF genes & repeats | Pancreas | Pancrea |
21 | chr14:19613000-19615000 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
22 | chr14:19613400-19614200 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
23 | chr14:19613400-19614400 | Weak transcription | Pancreas | Pancrea |
24 | chr14:19613400-19614600 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
25 | chr14:19613400-19616200 | Weak transcription | Fetal Lung | lung |
26 | chr14:19613600-19614200 | Weak transcription | Lung | lung |
27 | chr14:19614200-19614800 | ZNF genes & repeats | iPS DF 6.9 Cell Line | embryonic stem cell |
28 | chr14:19614200-19614800 | Active TSS | K562 | blood |
29 | chr14:19614400-19614800 | ZNF genes & repeats | Foreskin Fibroblast Primary Cells skin01 | Skin |
30 | chr14:19614400-19614800 | ZNF genes & repeats | Foreskin Fibroblast Primary Cells skin02 | Skin |
31 | chr14:19614400-19614800 | Bivalent Enhancer | Lung | lung |
32 | chr14:19614400-19614800 | ZNF genes & repeats | Pancreas | Pancrea |
33 | chr14:19614400-19615000 | Bivalent/Poised TSS | A549 | lung |
34 | chr14:19614600-19614800 | ZNF genes & repeats | H1 Derived Mesenchymal Stem Cells | ES cell derived |
35 | chr14:19614600-19614800 | Bivalent/Poised TSS | Colon Smooth Muscle | Colon |
36 | chr14:19614600-19614800 | Bivalent Enhancer | Right Ventricle | heart |
37 | chr14:19614800-19616000 | Weak transcription | Pancreas | Pancrea |
38 | chr14:19619800-19620000 | Bivalent Enhancer | A549 | lung |
39 | chr14:19641200-19641400 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
40 | chr14:19641200-19641400 | Enhancers | K562 | blood |
41 | chr14:19641200-19641600 | Active TSS | A549 | lung |
42 | chr14:19641200-19641600 | Active TSS | HepG2 | liver |
43 | chr14:19641600-19642800 | Weak transcription | HepG2 | liver |
44 | chr14:19641600-19643000 | Weak transcription | A549 | lung |
45 | chr14:19642800-19643200 | Enhancers | HepG2 | liver |
46 | chr14:19643000-19643200 | Enhancers | K562 | blood |
47 | chr14:19643000-19643400 | Enhancers | A549 | lung |
48 | chr14:19649600-19650000 | Active TSS | A549 | lung |
49 | chr14:19686600-19686800 | Enhancers | Placenta | Placenta |
50 | chr14:19761400-19761600 | Enhancers | Dnd41 | blood |