Variant report
Variant | nsv1051912 |
---|---|
Chromosome Location | chr14:19606995-20424926 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:4218)
- CpG islands (count:4282)
- Chromatin interactive region (count:5)
- LncRNA region (count:219)
- 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 | chr14:20387153-20387455 | HepG2 | liver: | n/a | n/a |
3 | ARID3A | chr14:19614565-19614964 | K562 | blood: | n/a | n/a |
4 | ARID3A | chr14:20346241-20346527 | K562 | blood: | n/a | n/a |
5 | ATF1 | chr14:20388271-20388560 | K562 | blood: | n/a | n/a |
6 | ATF1 | chr14:20325048-20325100 | K562 | blood: | n/a | n/a |
7 | ATF1 | chr14:19610591-19610826 | K562 | blood: | n/a | n/a |
8 | ATF1 | chr14:19609027-19609227 | K562 | blood: | n/a | n/a |
9 | ATF1 | chr14:19697695-19697910 | K562 | blood: | n/a | n/a |
10 | ATF1 | chr14:20319622-20319703 | K562 | blood: | n/a | n/a |
11 | ATF1 | chr14:20374096-20374405 | K562 | blood: | n/a | n/a |
12 | ATF1 | chr14:19614523-19614771 | K562 | blood: | n/a | n/a |
13 | ATF1 | chr14:19792967-19794009 | K562 | blood: | n/a | n/a |
14 | ATF1 | chr14:19795048-19796237 | K562 | blood: | n/a | n/a |
15 | ATF1 | chr14:19619825-19620010 | K562 | blood: | n/a | n/a |
16 | ATF3 | chr14:19614578-19614850 | K562 | blood: | n/a | n/a |
17 | BACH1 | chr14:19614506-19614753 | K562 | blood: | n/a | n/a |
18 | BACH1 | chr14:20348120-20348235 | K562 | blood: | n/a | n/a |
19 | BACH1 | chr14:19795663-19796213 | K562 | blood: | n/a | n/a |
20 | BACH1 | chr14:19608951-19609223 | K562 | blood: | n/a | n/a |
21 | BATF | chr14:19921485-19921738 | GM12878 | blood: | n/a | n/a |
22 | BATF | chr14:20025031-20025541 | GM12878 | blood: | n/a | n/a |
23 | BATF | chr14:19637509-19637829 | GM12878 | blood: | n/a | chr14:19637679-19637690 |
24 | BATF | chr14:19986920-19987123 | GM12878 | blood: | n/a | n/a |
25 | BATF | chr14:20131255-20131487 | GM12878 | blood: | n/a | n/a |
26 | BATF | chr14:20025214-20025459 | GM12878 | blood: | n/a | n/a |
27 | BATF | chr14:20026256-20026650 | GM12878 | blood: | n/a | n/a |
28 | BATF | chr14:19937525-19937845 | GM12878 | blood: | n/a | chr14:19937698-19937709 |
29 | BATF | chr14:19748478-19748726 | GM12878 | blood: | n/a | n/a |
30 | BATF | chr14:19937503-19937859 | GM12878 | blood: | n/a | chr14:19937698-19937709 |
31 | BATF | chr14:19637495-19637851 | GM12878 | blood: | n/a | chr14:19637679-19637690 |
32 | BATF | chr14:19827024-19827305 | GM12878 | blood: | n/a | n/a |
33 | BATF | chr14:20031700-20032016 | GM12878 | blood: | n/a | n/a |
34 | BATF | chr14:19653590-19653843 | GM12878 | blood: | n/a | n/a |
35 | BATF | chr14:20085953-20086237 | GM12878 | blood: | n/a | n/a |
36 | BCL11A | chr14:19753894-19754206 | GM12878 | blood: | n/a | n/a |
37 | BCL11A | chr14:19827039-19827376 | GM12878 | blood: | n/a | n/a |
38 | BCL11A | chr14:20084307-20084477 | GM12878 | blood: | n/a | n/a |
39 | BCL11A | chr14:19637542-19637751 | GM12878 | blood: | n/a | n/a |
40 | BCL11A | chr14:19921178-19921362 | GM12878 | blood: | n/a | n/a |
41 | BCL11A | chr14:19654370-19654535 | GM12878 | blood: | n/a | n/a |
42 | BCL11A | chr14:19748843-19749025 | GM12878 | blood: | n/a | n/a |
43 | BCL11A | chr14:19747489-19747677 | GM12878 | blood: | n/a | n/a |
44 | BCL11A | chr14:19821581-19821893 | GM12878 | blood: | n/a | n/a |
45 | BCL11A | chr14:19747728-19747905 | GM12878 | blood: | n/a | n/a |
46 | BCL11A | chr14:19826185-19826607 | GM12878 | blood: | n/a | n/a |
47 | BCL11A | chr14:20025076-20025493 | GM12878 | blood: | n/a | chr14:20025351-20025360 |
48 | BCL11A | chr14:19819837-19820033 | GM12878 | blood: | n/a | n/a |
49 | BCL11A | chr14:19826657-19827003 | GM12878 | blood: | n/a | n/a |
50 | BCL11A | chr14:19920793-19920958 | GM12878 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr14:19647166-19647216 | NT2-D1 | testis: | n/a |
2 | chr14:20387292-20387342 | HIPEpiC | eye: | n/a |
3 | chr14:19719117-19719167 | BJ | skin: | n/a |
4 | chr14:20106919-20106969 | K562 | blood: | n/a |
5 | chr14:20139478-20139528 | AG04449 | skin: | fetal |
6 | chr14:19641452-19641502 | BJ | skin: | n/a |
7 | chr14:19960976-19961026 | AG09319 | gingival: | n/a |
8 | chr14:20135228-20135278 | HIPEpiC | eye: | n/a |
9 | chr14:19625154-19625204 | ovcar-3 | ovarian: | n/a |
10 | chr14:19686155-19686205 | IMR90 | lung: | fetal |
11 | chr14:20020024-20020074 | HRE | kidney: | n/a |
12 | chr14:19855384-19855434 | Hela-S3 | cervix: | n/a |
13 | chr14:19647166-19647216 | NT2-D1 | testis: | n/a |
14 | chr14:20387292-20387342 | HIPEpiC | eye: | n/a |
15 | chr14:19719117-19719167 | BJ | skin: | n/a |
16 | chr14:20106919-20106969 | K562 | blood: | n/a |
17 | chr14:20139478-20139528 | AG04449 | skin: | fetal |
18 | chr14:19641452-19641502 | BJ | skin: | n/a |
19 | chr14:19960976-19961026 | AG09319 | gingival: | n/a |
20 | chr14:20135228-20135278 | HIPEpiC | eye: | n/a |
21 | chr14:19625154-19625204 | ovcar-3 | ovarian: | n/a |
22 | chr14:19686155-19686205 | IMR90 | lung: | fetal |
23 | chr14:20020024-20020074 | HRE | kidney: | n/a |
24 | chr14:19855384-19855434 | Hela-S3 | cervix: | n/a |
25 | chr14:20137365-20137415 | MCF10A-Er-Src | breast: | n/a |
26 | chr14:19888434-19888484 | BJ | skin: | n/a |
27 | chr14:20295005-20295055 | ovcar-3 | ovarian: | n/a |
28 | chr14:19686155-19686205 | NHBE | bronchial: | n/a |
29 | chr14:20020657-20020707 | HEEpiC | esophagus: | n/a |
30 | chr14:19888327-19888377 | GM19239 | blood: | n/a |
31 | chr14:19890087-19890137 | HL-60 | blood: | n/a |
32 | chr14:20295616-20295666 | HRCEpiC | kidney: | n/a |
33 | chr14:20403845-20403895 | BJ | skin: | n/a |
34 | chr14:20012038-20012088 | PFSK-1 | brain: | n/a |
35 | chr14:20403239-20403289 | GM12891 | blood: | n/a |
36 | chr14:20344083-20344133 | GM12878 | blood: | n/a |
37 | chr14:19614829-19614879 | HEEpiC | esophagus: | n/a |
38 | chr14:20136824-20136874 | MCF-7 | breast: | n/a |
39 | chr14:20136693-20136743 | IMR90 | lung: | fetal |
40 | chr14:20344394-20344444 | K562 | blood: | n/a |
41 | chr14:20344394-20344444 | RPTEC | kidney: | n/a |
42 | chr14:19950047-19950097 | NT2-D1 | testis: | n/a |
43 | chr14:19890601-19890651 | AG10803 | skin: | n/a |
44 | chr14:19890087-19890137 | SK-N-SH_RA | brain: | n/a |
45 | chr14:19641452-19641502 | ECC-1 | luminal epithelium: | n/a |
46 | chr14:20403845-20403895 | SK-N-SH | brain: | n/a |
47 | chr14:20020668-20020718 | NHBE | bronchial: | n/a |
48 | chr14:19746900-19746950 | T-47D | breast: | n/a |
49 | chr14:20295005-20295055 | Caco-2 | colon: | n/a |
50 | chr14:20137365-20137415 | H1-hESC | embryonic stem cell: | embryo |
(count:5 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr14:20378405..20379102-chr22:33621834..33622612,2 | MCF-7 | breast: | |
2 | chr14:20382435..20385861-chr14:20389212..20390807,3 | K562 | blood: | |
3 | chr14:20330082..20332945-chr14:20336237..20338891,2 | K562 | blood: | |
4 | chr14:20421291..20423829-chr14:20424473..20427279,2 | MCF-7 | breast: | |
5 | chr14:20382435..20385861-chr14:20389212..20390807,3 | K562 | blood: |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-POTEM-2 | chr14:19925240-19925345 | ENSG00000244306 |
2 | lnc-POTEM-2 | chr14:19921359-19921470 | ENSG00000244306 |
3 | lnc-POTEM-2 | chr14:19894700-19894794 | ENSG00000244306 |
4 | lnc-POTEG-4 | chr14:19691355-19691701 | ENSG00000225210 |
5 | lnc-OR4N2-4 | chr14:19894369-19894691 | XLOC_010749 |
6 | lnc-POTEM-1 | chr14:19955880-19955945 | ENSG00000257931.2 |
7 | lnc-POTEG-4 | chr14:19653625-19653772 | ENSG00000225210 |
8 | lnc-POTEG-3 | chr14:19619448-19619513 | ENSG00000258314 |
9 | lnc-POTEM-2 | chr14:19880596-19880882 | ENSG00000244306 |
10 | lnc-POTEM-1 | chr14:19932012-19932316 | ENSG00000257931.2 |
11 | lnc-POTEM-2 | chr14:19921648-19921738 | NONHSAT035522 |
12 | lnc-OR4N2-4 | chr14:19896785-19896872 | XLOC_010749 |
13 | lnc-POTEM-6 | chr14:19837830-19837836 | ENSG00000257898.1 |
14 | lnc-POTEG-4 | chr14:19653893-19654004 | ENSG00000225210 |
15 | lnc-POTEM-2 | chr14:19893856-19894790 | ENSG00000244306 |
16 | lnc-POTEG-4 | chr14:19680595-19680685 | ENSG00000225210 |
17 | lnc-OR4N2-3 | chr14:20006913-20007358 | NR_110505 |
18 | lnc-POTEM-2 | chr14:19872436-19872514 | ENSG00000244306 |
19 | lnc-POTEG-4 | chr14:19650032-19650126 | NR_110526 |
20 | lnc-POTEM-2 | chr14:19921359-19921470 | ENSG00000244306 |
21 | lnc-POTEG-4 | chr14:19652244-19652354 | ENSG00000225210 |
22 | lnc-POTEM-2 | chr14:19912015-19913438 | ENSG00000244306 |
23 | lnc-POTEM-2 | chr14:19894700-19894790 | ENSG00000244306 |
24 | lnc-POTEM-6 | chr14:19687688-19687890 | ENSG00000257898.1 |
25 | lnc-POTEG-4 | chr14:19656089-19656224 | ENSG00000225210 |
26 | lnc-POTEM-2 | chr14:19919492-19919581 | ENSG00000244306 |
27 | lnc-POTEM-2 | chr14:19925240-19925346 | ENSG00000244306 |
28 | lnc-POTEG-4 | chr14:19650021-19650126 | ENSG00000225210 |
29 | lnc-POTEM-2 | chr14:19919138-19919273 | ENSG00000244306 |
30 | lnc-POTEG-4 | chr14:19691355-19695180 | ENSG00000225210 |
31 | lnc-POTEG-4 | chr14:19680595-19680685 | ENSG00000225210 |
32 | lnc-POTEM-2 | chr14:19894700-19894731 | NONHSAT035499 |
33 | lnc-POTEM-2 | chr14:19923013-19923123 | ENSG00000244306 |
34 | lnc-POTEM-2 | chr14:19921591-19921705 | NONHSAT035520 |
35 | lnc-POTEM-2 | chr14:19921359-19921470 | ENSG00000244306 |
36 | lnc-POTEG-4 | chr14:19680591-19680685 | ENSG00000225210 |
37 | lnc-POTEM-2 | chr14:19880209-19884029 | NONHSAT035503 |
38 | lnc-POTEG-4 | chr14:19655782-19655871 | ENSG00000225210 |
39 | lnc-OR4N2-3 | chr14:20008836-20010956 | NR_110505 |
40 | lnc-POTEM-7 | chr14:19670792-19671105 | ENSG00000228294 |
41 | lnc-POTEM-2 | chr14:19921359-19921390 | NONHSAT035499 |
42 | lnc-POTEM-2 | chr14:19923009-19923123 | ENSG00000244306 |
43 | lnc-POTEM-2 | chr14:19919492-19919629 | ENSG00000244306 |
44 | lnc-POTEM-2 | chr14:19919134-19919273 | ENSG00000244306 |
45 | lnc-POTEG-3 | chr14:19643072-19643377 | ENSG00000258314 |
46 | lnc-POTEM-2 | chr14:19921591-19921738 | ENSG00000244306 |
47 | lnc-POTEM-2 | chr14:19925240-19925311 | ENSG00000244306 |
48 | lnc-POTEG-4 | chr14:19691355-19692916 | NR_110526 |
49 | lnc-POTEM-2 | chr14:19925240-19925332 | ENSG00000244306 |
50 | lnc-OR4N2-4 | chr14:19904259-19904572 | ENSG00000215394 |
No data |
No data |
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 |
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 |
OR4M1 | TF binding region |
BMS1P17 | TF binding region |
ENSG00000258781 | TF binding region |
OR11K2P | 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 |
OR4H12P | TF binding region |
ENSG00000257931 | TF binding region |
OR4K6P | TF binding region |
ENSG00000225210 | TF binding region |
ENSG00000257310 | TF binding region |
GRAMD4P4 | 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 |
DUXAP10 | TF binding region |
ENSG00000259016 | CpG island |
OR4K5 | CpG island |
GRAMD4P3 | CpG island |
ENSG00000244306 | CpG island |
ENSG00000257142 | 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 |
OR4M1 | CpG island |
BMS1P17 | CpG island |
ENSG00000258781 | CpG island |
OR11K2P | CpG island |
ENSG00000257395 | CpG island |
OR4N1P | CpG island |
ENSG00000257493 | CpG island |
OR4Q3 | CpG island |
ENSG00000258276 | CpG island |
ENSG00000271632 | CpG island |
OR4H12P | CpG island |
ENSG00000257931 | CpG island |
OR4K6P | CpG island |
ENSG00000225210 | CpG island |
ENSG00000257310 | CpG island |
GRAMD4P4 | 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 |
DUXAP10 | CpG island |
ENSG00000258822 | chromatin interactions |
ENSG00000176290 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs149400931 | chr14:19607307-19607308 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs532898715 | chr14:19607339-19607340 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs371154784 | chr14:19607347-19607348 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs374907836 | chr14:19607348-19607349 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs551091904 | chr14:19607362-19607363 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs532474469 | chr14:19607383-19607384 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs569382782 | chr14:19607395-19607396 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs2716301 | chr14:19607415-19607416 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs530535761 | chr14:19607457-19607458 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs368606221 | chr14:19607480-19607481 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs180773477 | chr14:19607493-19607494 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs568312363 | chr14:19607501-19607502 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs535710971 | chr14:19607505-19607506 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs184957083 | chr14:19607509-19607510 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs554405559 | chr14:19607533-19607534 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs566248564 | chr14:19607536-19607537 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs574473529 | chr14:19607537-19607538 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs4483772 | chr14:19607548-19607549 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs4466990 | chr14:19607575-19607576 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs539794012 | chr14:19607594-19607595 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs373900484 | chr14:19607597-19607598 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs113844654 | chr14:19607601-19607602 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs200196149 | chr14:19607618-19607619 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs2716300 | chr14:19607621-19607622 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs558201194 | chr14:19607637-19607638 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs576543829 | chr14:19607647-19607648 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs4366634 | chr14:19607654-19607655 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs189411992 | chr14:19607660-19607661 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs181933928 | chr14:19607661-19607662 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs555941034 | chr14:19607662-19607663 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs573869573 | chr14:19607704-19607705 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs540876458 | chr14:19607726-19607727 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs200434310 | chr14:19607768-19607769 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs559551109 | chr14:19607830-19607831 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs61970387 | chr14:19607832-19607833 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs577880644 | chr14:19607842-19607843 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs544954761 | chr14:19607844-19607845 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs61970389 | chr14:19607882-19607883 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs562929182 | chr14:19607884-19607885 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs112045374 | chr14:19607924-19607925 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs530469766 | chr14:19607976-19607977 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs375074212 | chr14:19607977-19607978 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs201545821 | chr14:19607984-19607985 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs150744291 | chr14:19607992-19607993 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs61515370 | chr14:19607993-19607994 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs201527009 | chr14:19608020-19608021 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs548659223 | chr14:19608062-19608063 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs202244824 | chr14:19608079-19608080 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs560660755 | chr14:19608169-19608170 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs371525309 | chr14:19608293-19608294 | Enhancers | 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 |
Urothelial carcinoma | 21177765 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | 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 |
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 |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | 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 |
Non-syndromic sensorineural hearing loss | 17431168 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr14:19607400-19609600 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
2 | chr14:19608600-19609200 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
3 | chr14:19610800-19612800 | Weak transcription | Fetal Lung | lung |
4 | chr14:19611000-19611200 | Enhancers | Lung | lung |
5 | chr14:19611200-19612800 | Weak transcription | Lung | lung |
6 | chr14:19612600-19615200 | Weak transcription | Right Atrium | heart |
7 | chr14:19612800-19613400 | ZNF genes & repeats | Fetal Kidney | kidney |
8 | chr14:19612800-19613400 | ZNF genes & repeats | Fetal Lung | lung |
9 | chr14:19612800-19613400 | ZNF genes & repeats | Lung | lung |
10 | chr14:19613000-19613200 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
11 | chr14:19613000-19613200 | ZNF genes & repeats | Gastric | stomach |
12 | chr14:19613000-19613200 | Bivalent Enhancer | K562 | blood |
13 | chr14:19613000-19613400 | ZNF genes & repeats | H1 Derived Mesenchymal Stem Cells | ES cell derived |
14 | chr14:19613000-19613400 | ZNF genes & repeats | H9 Cell Line | embryonic stem cell |
15 | chr14:19613000-19613400 | ZNF genes & repeats | iPS DF 6.9 Cell Line | embryonic stem cell |
16 | chr14:19613000-19613400 | ZNF genes & repeats | Fetal Brain Male | brain |
17 | chr14:19613000-19613400 | ZNF genes & repeats | Pancreas | Pancrea |
18 | chr14:19613000-19615000 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
19 | chr14:19613400-19614200 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
20 | chr14:19613400-19614400 | Weak transcription | Pancreas | Pancrea |
21 | chr14:19613400-19614600 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
22 | chr14:19613400-19616200 | Weak transcription | Fetal Lung | lung |
23 | chr14:19613600-19614200 | Weak transcription | Lung | lung |
24 | chr14:19614200-19614800 | ZNF genes & repeats | iPS DF 6.9 Cell Line | embryonic stem cell |
25 | chr14:19614200-19614800 | Active TSS | K562 | blood |
26 | chr14:19614400-19614800 | ZNF genes & repeats | Foreskin Fibroblast Primary Cells skin01 | Skin |
27 | chr14:19614400-19614800 | ZNF genes & repeats | Foreskin Fibroblast Primary Cells skin02 | Skin |
28 | chr14:19614400-19614800 | Bivalent Enhancer | Lung | lung |
29 | chr14:19614400-19614800 | ZNF genes & repeats | Pancreas | Pancrea |
30 | chr14:19614400-19615000 | Bivalent/Poised TSS | A549 | lung |
31 | chr14:19614600-19614800 | ZNF genes & repeats | H1 Derived Mesenchymal Stem Cells | ES cell derived |
32 | chr14:19614600-19614800 | Bivalent/Poised TSS | Colon Smooth Muscle | Colon |
33 | chr14:19614600-19614800 | Bivalent Enhancer | Right Ventricle | heart |
34 | chr14:19614800-19616000 | Weak transcription | Pancreas | Pancrea |
35 | chr14:19619800-19620000 | Bivalent Enhancer | A549 | lung |
36 | chr14:19641200-19641400 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
37 | chr14:19641200-19641400 | Enhancers | K562 | blood |
38 | chr14:19641200-19641600 | Active TSS | A549 | lung |
39 | chr14:19641200-19641600 | Active TSS | HepG2 | liver |
40 | chr14:19641600-19642800 | Weak transcription | HepG2 | liver |
41 | chr14:19641600-19643000 | Weak transcription | A549 | lung |
42 | chr14:19642800-19643200 | Enhancers | HepG2 | liver |
43 | chr14:19643000-19643200 | Enhancers | K562 | blood |
44 | chr14:19643000-19643400 | Enhancers | A549 | lung |
45 | chr14:19649600-19650000 | Active TSS | A549 | lung |
46 | chr14:19686600-19686800 | Enhancers | Placenta | Placenta |
47 | chr14:19761400-19761600 | Enhancers | Dnd41 | blood |
48 | chr14:19763800-19764600 | Weak transcription | Dnd41 | blood |
49 | chr14:19764600-19764800 | Enhancers | Dnd41 | blood |
50 | chr14:19764800-19766400 | Weak transcription | Dnd41 | blood |