Variant report
Variant | nsv1040107 |
---|---|
Chromosome Location | chr14:19462471-20423360 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:4808)
- CpG islands (count:4767)
- 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 | chr14:20346227-20346537 | HepG2 | liver: | n/a | n/a |
2 | ARID3A | chr14:20346241-20346527 | K562 | blood: | n/a | n/a |
3 | ARID3A | chr14:19614565-19614964 | K562 | blood: | n/a | n/a |
4 | ARID3A | chr14:20387153-20387455 | HepG2 | liver: | n/a | n/a |
5 | ATF1 | chr14:20325048-20325100 | K562 | blood: | n/a | n/a |
6 | ATF1 | chr14:20374096-20374405 | K562 | blood: | n/a | n/a |
7 | ATF1 | chr14:19697695-19697910 | K562 | blood: | n/a | n/a |
8 | ATF1 | chr14:19609027-19609227 | K562 | blood: | n/a | n/a |
9 | ATF1 | chr14:19614523-19614771 | K562 | blood: | n/a | n/a |
10 | ATF1 | chr14:19462190-19462538 | K562 | blood: | n/a | n/a |
11 | ATF1 | chr14:19464826-19465023 | K562 | blood: | n/a | n/a |
12 | ATF1 | chr14:19792967-19794009 | K562 | blood: | n/a | n/a |
13 | ATF1 | chr14:19610591-19610826 | K562 | blood: | n/a | n/a |
14 | ATF1 | chr14:19795048-19796237 | K562 | blood: | n/a | n/a |
15 | ATF1 | chr14:20388271-20388560 | K562 | blood: | n/a | n/a |
16 | ATF1 | chr14:19619825-19620010 | K562 | blood: | n/a | n/a |
17 | ATF1 | chr14:20319622-20319703 | K562 | blood: | n/a | n/a |
18 | ATF3 | chr14:19614578-19614850 | 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 | chr14:20348120-20348235 | K562 | blood: | n/a | n/a |
22 | BACH1 | chr14:19462184-19462510 | K562 | blood: | n/a | n/a |
23 | BACH1 | chr14:19614506-19614753 | K562 | blood: | n/a | n/a |
24 | BACH1 | chr14:19608951-19609223 | K562 | blood: | n/a | n/a |
25 | BATF | chr14:19827024-19827305 | GM12878 | blood: | n/a | n/a |
26 | BATF | chr14:19487460-19487744 | GM12878 | blood: | n/a | n/a |
27 | BATF | chr14:20025031-20025541 | 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 | chr14:19548036-19548546 | GM12878 | blood: | n/a | n/a |
31 | BATF | chr14:20085953-20086237 | GM12878 | blood: | n/a | n/a |
32 | BATF | chr14:19541484-19541694 | GM12878 | blood: | n/a | n/a |
33 | BATF | chr14:19637495-19637851 | GM12878 | blood: | n/a | chr14:19637679-19637690 |
34 | BATF | chr14:19637509-19637829 | GM12878 | blood: | n/a | chr14:19637679-19637690 |
35 | BATF | chr14:20025214-20025459 | GM12878 | blood: | n/a | n/a |
36 | BATF | chr14:20131255-20131487 | GM12878 | blood: | n/a | n/a |
37 | BATF | chr14:19548118-19548363 | GM12878 | blood: | n/a | n/a |
38 | BATF | chr14:19653590-19653843 | GM12878 | blood: | n/a | n/a |
39 | BATF | chr14:19586478-19586681 | GM12878 | blood: | n/a | n/a |
40 | BATF | chr14:19986920-19987123 | GM12878 | blood: | n/a | n/a |
41 | BATF | chr14:19546952-19547321 | GM12878 | blood: | n/a | n/a |
42 | BATF | chr14:20031700-20032016 | GM12878 | blood: | n/a | n/a |
43 | BATF | chr14:19937503-19937859 | GM12878 | blood: | n/a | chr14:19937698-19937709 |
44 | BATF | chr14:19921485-19921738 | GM12878 | blood: | n/a | n/a |
45 | BATF | chr14:20026256-20026650 | GM12878 | blood: | n/a | n/a |
46 | BATF | chr14:19541408-19541756 | GM12878 | blood: | n/a | n/a |
47 | BCL11A | chr14:19488926-19489115 | GM12878 | blood: | n/a | n/a |
48 | BCL11A | chr14:19937603-19937812 | GM12878 | blood: | n/a | n/a |
49 | BCL11A | chr14:19746165-19746357 | GM12878 | blood: | n/a | n/a |
50 | BCL11A | chr14:19826185-19826607 | GM12878 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr14:20136822-20136872 | Hela-S3 | cervix: | n/a |
2 | chr14:20020024-20020074 | HRPEpiC | eye: | n/a |
3 | chr14:19719837-19719887 | HCM | heart: | n/a |
4 | chr14:20136693-20136743 | SK-N-SH_RA | brain: | n/a |
5 | chr14:20247697-20247747 | HepG2 | liver: | n/a |
6 | chr14:19858845-19858895 | HUVEC | blood vessel: | n/a |
7 | chr14:19925080-19925130 | HRCEpiC | kidney: | n/a |
8 | chr14:19602855-19602905 | LNCaP | prostate: | n/a |
9 | chr14:19888629-19888679 | GM06990 | blood: | n/a |
10 | chr14:20136822-20136872 | Hela-S3 | cervix: | n/a |
11 | chr14:20020024-20020074 | HRPEpiC | eye: | n/a |
12 | chr14:19719837-19719887 | HCM | heart: | n/a |
13 | chr14:20136693-20136743 | SK-N-SH_RA | brain: | n/a |
14 | chr14:20247697-20247747 | HepG2 | liver: | n/a |
15 | chr14:19858845-19858895 | HUVEC | blood vessel: | n/a |
16 | chr14:19925080-19925130 | HRCEpiC | kidney: | n/a |
17 | chr14:19602855-19602905 | LNCaP | prostate: | n/a |
18 | chr14:19888629-19888679 | GM06990 | blood: | n/a |
19 | chr14:19614829-19614879 | NH-A | brain: | n/a |
20 | chr14:20247919-20247969 | U87 | brain: | n/a |
21 | chr14:20403845-20403895 | T-47D | breast: | n/a |
22 | chr14:19614541-19614591 | MCF10A-Er-Src | breast: | n/a |
23 | chr14:20344394-20344444 | SAEC | small airway: | n/a |
24 | chr14:19828288-19828338 | NHBE | bronchial: | n/a |
25 | chr14:20147187-20147237 | HPAEpiC | pulmonary alveolar: | n/a |
26 | chr14:20136824-20136874 | HRPEpiC | eye: | n/a |
27 | chr14:19960920-19960970 | HNPCEpiC | eye: | n/a |
28 | chr14:19887082-19887132 | HEEpiC | esophagus: | n/a |
29 | chr14:20215980-20216030 | HRCEpiC | kidney: | n/a |
30 | chr14:20020024-20020074 | HUVEC | blood vessel: | n/a |
31 | chr14:19686670-19686720 | IMR90 | lung: | fetal |
32 | chr14:19888327-19888377 | NHDF-neo | bronchial: | n/a |
33 | chr14:19614829-19614879 | HMEC | breast: | n/a |
34 | chr14:20146493-20146543 | HRPEpiC | eye: | n/a |
35 | chr14:20137365-20137415 | HL-60 | blood: | n/a |
36 | chr14:19747134-19747184 | BE2_C | brain: | n/a |
37 | chr14:20020024-20020074 | SK-N-SH | brain: | n/a |
38 | chr14:20136822-20136872 | Caco-2 | colon: | n/a |
39 | chr14:19625820-19625870 | NHBE | bronchial: | n/a |
40 | chr14:19745841-19745891 | HCT-116 | colon: | n/a |
41 | chr14:20387292-20387342 | AG04450 | lung: | fetal |
42 | chr14:19960920-19960970 | AG04450 | lung: | fetal |
43 | chr14:20215980-20216030 | AG04450 | lung: | fetal |
44 | chr14:20403239-20403289 | HepG2 | liver: | n/a |
45 | chr14:19746900-19746950 | HUVEC | blood vessel: | n/a |
46 | chr14:19890087-19890137 | NB4 | blood: | n/a |
47 | chr14:19614541-19614591 | HNPCEpiC | eye: | n/a |
48 | chr14:19719117-19719167 | AG09309 | skin: | n/a |
49 | chr14:19747134-19747184 | NT2-D1 | testis: | n/a |
50 | chr14:19614556-19614606 | PFSK-1 | brain: | 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 | chr14:20421291..20423829-chr14:20424473..20427279,2 | MCF-7 | breast: | |
3 | chr14:20378405..20379102-chr22:33621834..33622612,2 | MCF-7 | breast: | |
4 | chr14:20382435..20385861-chr14:20389212..20390807,3 | K562 | blood: | |
5 | chr14:20330082..20332945-chr14:20336237..20338891,2 | K562 | blood: |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-POTEG-4 | chr14:19655782-19655871 | ENSG00000225210 |
2 | lnc-POTEG-3 | chr14:19639008-19639483 | NONHSAT035465 |
3 | lnc-POTEG-4 | chr14:19690487-19690609 | ENSG00000225210 |
4 | lnc-POTEG-6 | chr14:19566012-19566082 | NR_027480 |
5 | lnc-POTEG-4 | chr14:19680790-19681127 | NONHSAT035490 |
6 | lnc-POTEG-2 | chr14:19517501-19517607 | ENSG00000257891.1 |
7 | lnc-POTEG-4 | chr14:19691355-19691583 | ENSG00000225210 |
8 | lnc-POTEM-2 | chr14:19925240-19925294 | NONHSAT035522 |
9 | lnc-POTEM-2 | chr14:19921591-19921738 | ENSG00000244306 |
10 | lnc-POTEG-4 | chr14:19653893-19654004 | ENSG00000225210 |
11 | lnc-POTEM-2 | chr14:19882468-19884029 | NR_110526 |
12 | lnc-POTEM-2 | chr14:19921359-19921470 | ENSG00000244306 |
13 | lnc-POTEM-2 | chr14:19856964-19857070 | NONHSAT035499 |
14 | lnc-POTEG-7 | chr14:19603204-19603279 | NONHSAT035463 |
15 | lnc-POTEG-5 | chr14:19812176-19812247 | ENSG00000258188.1 |
16 | lnc-POTEM-7 | chr14:19670792-19671105 | ENSG00000228294 |
17 | lnc-POTEM-2 | chr14:19925240-19925311 | ENSG00000244306 |
18 | lnc-POTEG-7 | chr14:19597285-19597388 | NONHSAT035463 |
19 | lnc-POTEM-2 | chr14:19923013-19923123 | ENSG00000244306 |
20 | lnc-POTEM-2 | chr14:19891517-19892052 | ENSG00000244306 |
21 | lnc-POTEG-4 | chr14:19683027-19683250 | ENSG00000225210 |
22 | lnc-POTEG-4 | chr14:19650066-19650126 | ENSG00000225210 |
23 | lnc-POTEM-2 | chr14:19925240-19925348 | ENSG00000244306 |
24 | lnc-POTEM-7 | chr14:19670792-19671105 | XLOC_010962 |
25 | lnc-POTEM-2 | chr14:19919492-19919629 | ENSG00000244306 |
26 | lnc-POTEG-6 | chr14:19571348-19571418 | NR_027480 |
27 | lnc-POTEM-2 | chr14:19883543-19884029 | ENSG00000244306 |
28 | lnc-POTEM-2 | chr14:19919138-19919273 | NONHSAT035503 |
29 | lnc-POTEM-2 | chr14:19921591-19921738 | NONHSAT035503 |
30 | lnc-POTEM-8 | chr14:19562689-19564808 | ENSG00000258252 |
31 | lnc-POTEM-2 | chr14:19919138-19919273 | ENSG00000244306 |
32 | lnc-POTEG-4 | chr14:19691355-19691404 | NONHSAT035478 |
33 | lnc-POTEG-4 | chr14:19653908-19654004 | ENSG00000225210 |
34 | lnc-OR4N2-3 | chr14:20006913-20007358 | ENSG00000258276 |
35 | lnc-POTEG-4 | chr14:19691355-19691701 | ENSG00000225210 |
36 | lnc-POTEM-2 | chr14:19892138-19892361 | ENSG00000244306 |
37 | lnc-POTEG-4 | chr14:19653625-19653772 | ENSG00000225210 |
38 | lnc-POTEG-4 | chr14:19656700-19656886 | ENSG00000225210 |
39 | lnc-POTEM-7 | chr14:19678513-19678600 | ENSG00000228294 |
40 | lnc-POTEG-6 | chr14:19553365-19553937 | NR_027480 |
41 | lnc-POTEM-2 | chr14:19894700-19894790 | NONHSAT035503 |
42 | lnc-POTEG-7 | chr14:19602828-19602942 | NONHSAT035463 |
43 | lnc-POTEM-2 | chr14:19872436-19872514 | ENSG00000244306 |
44 | lnc-POTEM-2 | chr14:19911916-19913315 | NONHSAT035515 |
45 | lnc-POTEM-2 | chr14:19919492-19919629 | ENSG00000244306 |
46 | lnc-POTEG-4 | chr14:19680591-19680685 | ENSG00000225210 |
47 | lnc-POTEG-4 | chr14:19652244-19652358 | ENSG00000225210 |
48 | lnc-POTEM-2 | chr14:19894700-19894790 | ENSG00000244306 |
49 | lnc-POTEM-1 | chr14:19968877-19972292 | ENSG00000257931 |
50 | lnc-POTEM-2 | chr14:19921648-19921738 | NONHSAT035522 |
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 |
---|---|
OR11K2P | TF binding region |
ENSG00000259016 | TF binding region |
OR4K5 | TF binding region |
ENSG00000257891 | TF binding region |
GRAMD4P3 | TF binding region |
ENSG00000257395 | TF binding region |
OR4N1P | TF binding region |
ENSG00000244306 | TF binding region |
ENSG00000257493 | TF binding region |
ENSG00000257142 | TF binding region |
ENSG00000258265 | TF binding region |
OR4Q3 | TF binding region |
ENSG00000259069 | TF binding region |
OR4K4P | TF binding region |
ENSG00000258276 | TF binding region |
ENSG00000257884 | TF binding region |
ENSG00000271632 | TF binding region |
ENSG00000258324 | TF binding region |
OR4K3 | TF binding region |
MED15P1 | TF binding region |
OR4H12P | TF binding region |
ENSG00000257931 | TF binding region |
ENSG00000257635 | TF binding region |
OR4K6P | TF binding region |
ARHGAP42P4 | TF binding region |
ENSG00000238492 | TF binding region |
OR4K16P | TF binding region |
ENSG00000257573 | TF binding region |
ENSG00000239200 | TF binding region |
ENSG00000225210 | TF binding region |
ENSG00000257846 | TF binding region |
BMS1P18 | TF binding region |
ENSG00000257310 | TF binding region |
GRAMD4P4 | TF binding region |
OR11H2 | TF binding region |
ENSG00000257357 | TF binding region |
ENSG00000257868 | TF binding region |
OR4N2 | TF binding region |
ENSG00000258314 | TF binding region |
ENSG00000257224 | TF binding region |
ENSG00000257751 | TF binding region |
RNU6-1268P | TF binding region |
OR11H13P | TF binding region |
ENSG00000257749 | TF binding region |
ENSG00000258188 | TF binding region |
ENSG00000258027 | TF binding region |
ENSG00000257977 | TF binding region |
OR4K1 | TF binding region |
ENSG00000258198 | TF binding region |
MED15P6 | TF binding region |
ENSG00000257432 | TF binding region |
POTEM | TF binding region |
OR4K2 | 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 |
POTEG | TF binding region |
DUXAP10 | TF binding region |
OR11K2P | CpG island |
ENSG00000259016 | CpG island |
OR4K5 | CpG island |
ENSG00000257891 | CpG island |
GRAMD4P3 | CpG island |
ENSG00000257395 | CpG island |
OR4N1P | CpG island |
ENSG00000244306 | CpG island |
ENSG00000257493 | CpG island |
ENSG00000257142 | CpG island |
ENSG00000258265 | CpG island |
OR4Q3 | CpG island |
ENSG00000259069 | CpG island |
OR4K4P | CpG island |
ENSG00000258276 | CpG island |
ENSG00000257884 | CpG island |
ENSG00000271632 | CpG island |
ENSG00000258324 | CpG island |
OR4K3 | CpG island |
MED15P1 | CpG island |
OR4H12P | CpG island |
ENSG00000257931 | CpG island |
ENSG00000257635 | CpG island |
OR4K6P | CpG island |
ARHGAP42P4 | CpG island |
ENSG00000238492 | CpG island |
OR4K16P | CpG island |
ENSG00000257573 | CpG island |
ENSG00000239200 | CpG island |
ENSG00000225210 | CpG island |
ENSG00000257846 | CpG island |
BMS1P18 | CpG island |
ENSG00000257310 | CpG island |
GRAMD4P4 | CpG island |
OR11H2 | CpG island |
ENSG00000257357 | CpG island |
ENSG00000257868 | CpG island |
OR4N2 | CpG island |
ENSG00000258314 | CpG island |
ENSG00000257224 | CpG island |
ENSG00000257751 | CpG island |
RNU6-1268P | CpG island |
OR11H13P | CpG island |
ENSG00000257749 | CpG island |
ENSG00000258188 | CpG island |
ENSG00000258027 | CpG island |
ENSG00000257977 | CpG island |
OR4K1 | CpG island |
ENSG00000258198 | CpG island |
MED15P6 | CpG island |
ENSG00000257432 | CpG island |
POTEM | CpG island |
OR4K2 | CpG island |
RNU6-1239P | CpG island |
OR4M1 | CpG island |
BMS1P17 | CpG island |
ENSG00000258781 | CpG island |
ENSG00000258252 | CpG island |
NF1P4 | CpG island |
POTEG | 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 | rs142508745 | chr14:19462473-19462474 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
2 | rs151247125 | chr14:19462500-19462501 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
3 | rs186478187 | chr14:19462511-19462512 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
4 | rs528680675 | chr14:19462524-19462525 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
5 | rs546839691 | chr14:19462559-19462560 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
6 | rs112358274 | chr14:19462567-19462568 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
7 | rs190857693 | chr14:19462601-19462602 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
8 | rs550695741 | chr14:19462616-19462617 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
9 | rs182493615 | chr14:19462675-19462676 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
10 | rs374729849 | chr14:19462685-19462686 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
11 | rs145884715 | chr14:19462690-19462691 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
12 | rs555124075 | chr14:19462693-19462694 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
13 | rs369615426 | chr14:19462712-19462713 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
14 | rs28513808 | chr14:19462725-19462726 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
15 | rs368219522 | chr14:19462758-19462759 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
16 | rs145359942 | chr14:19462759-19462760 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
17 | rs112269645 | chr14:19462762-19462763 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
18 | rs531092885 | chr14:19462764-19462765 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
19 | rs201159348 | chr14:19462779-19462780 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
20 | rs377746942 | chr14:19462790-19462791 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
21 | rs533988667 | chr14:19462797-19462798 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
22 | rs113244965 | chr14:19463802-19463803 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs535405345 | chr14:19463857-19463858 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs192934111 | chr14:19463870-19463871 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs28756237 | chr14:19463898-19463899 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs545545175 | chr14:19463904-19463905 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs557837786 | chr14:19463952-19463953 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs577325439 | chr14:19463953-19463954 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs142294111 | chr14:19463961-19463962 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs72661541 | chr14:19464055-19464056 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs542576556 | chr14:19464092-19464093 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs560482621 | chr14:19464103-19464104 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs527708862 | chr14:19464106-19464107 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs201755114 | chr14:19464117-19464118 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs570931854 | chr14:19464119-19464120 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs28841911 | chr14:19464123-19464124 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
37 | rs549560827 | chr14:19464189-19464190 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs187765095 | chr14:19464224-19464225 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs28675955 | chr14:19464838-19464839 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
40 | rs569587060 | chr14:19464846-19464847 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs139125008 | chr14:19465613-19465614 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs189698252 | chr14:19465632-19465633 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs141717046 | chr14:19468392-19468393 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs180872899 | chr14:19468399-19468400 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs551358878 | chr14:19468443-19468444 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs75940277 | chr14:19468496-19468497 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs534208683 | chr14:19468517-19468518 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
48 | rs559073701 | chr14:19468518-19468519 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
49 | rs577534717 | chr14:19468557-19468558 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
50 | rs150859614 | chr14:19468581-19468582 | Inactive region | lncRNA | 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 |
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 | chr14:19462400-19462800 | ZNF genes & repeats | Fetal Kidney | kidney |
2 | chr14:19500000-19500200 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
3 | chr14:19597000-19597600 | ZNF genes & repeats | iPS DF 6.9 Cell Line | embryonic stem cell |
4 | chr14:19597200-19597600 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
5 | chr14:19607400-19609600 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
6 | chr14:19608600-19609200 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
7 | chr14:19610800-19612800 | Weak transcription | Fetal Lung | lung |
8 | chr14:19611000-19611200 | Enhancers | Lung | lung |
9 | chr14:19611200-19612800 | Weak transcription | Lung | lung |
10 | chr14:19612600-19615200 | Weak transcription | Right Atrium | heart |
11 | chr14:19612800-19613400 | ZNF genes & repeats | Fetal Kidney | kidney |
12 | chr14:19612800-19613400 | ZNF genes & repeats | Fetal Lung | lung |
13 | chr14:19612800-19613400 | ZNF genes & repeats | Lung | lung |
14 | chr14:19613000-19613200 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
15 | chr14:19613000-19613200 | ZNF genes & repeats | Gastric | stomach |
16 | chr14:19613000-19613200 | Bivalent Enhancer | K562 | blood |
17 | chr14:19613000-19613400 | ZNF genes & repeats | H1 Derived Mesenchymal Stem Cells | ES cell derived |
18 | chr14:19613000-19613400 | ZNF genes & repeats | H9 Cell Line | embryonic stem cell |
19 | chr14:19613000-19613400 | ZNF genes & repeats | iPS DF 6.9 Cell Line | embryonic stem cell |
20 | chr14:19613000-19613400 | ZNF genes & repeats | Fetal Brain Male | brain |
21 | chr14:19613000-19613400 | ZNF genes & repeats | Pancreas | Pancrea |
22 | chr14:19613000-19615000 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
23 | chr14:19613400-19614200 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
24 | chr14:19613400-19614400 | Weak transcription | Pancreas | Pancrea |
25 | chr14:19613400-19614600 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
26 | chr14:19613400-19616200 | Weak transcription | Fetal Lung | lung |
27 | chr14:19613600-19614200 | Weak transcription | Lung | lung |
28 | chr14:19614200-19614800 | ZNF genes & repeats | iPS DF 6.9 Cell Line | embryonic stem cell |
29 | chr14:19614200-19614800 | Active TSS | K562 | blood |
30 | chr14:19614400-19614800 | ZNF genes & repeats | Foreskin Fibroblast Primary Cells skin01 | Skin |
31 | chr14:19614400-19614800 | ZNF genes & repeats | Foreskin Fibroblast Primary Cells skin02 | Skin |
32 | chr14:19614400-19614800 | Bivalent Enhancer | Lung | lung |
33 | chr14:19614400-19614800 | ZNF genes & repeats | Pancreas | Pancrea |
34 | chr14:19614400-19615000 | Bivalent/Poised TSS | A549 | lung |
35 | chr14:19614600-19614800 | ZNF genes & repeats | H1 Derived Mesenchymal Stem Cells | ES cell derived |
36 | chr14:19614600-19614800 | Bivalent/Poised TSS | Colon Smooth Muscle | Colon |
37 | chr14:19614600-19614800 | Bivalent Enhancer | Right Ventricle | heart |
38 | chr14:19614800-19616000 | Weak transcription | Pancreas | Pancrea |
39 | chr14:19619800-19620000 | Bivalent Enhancer | A549 | lung |
40 | chr14:19641200-19641400 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
41 | chr14:19641200-19641400 | Enhancers | K562 | blood |
42 | chr14:19641200-19641600 | Active TSS | A549 | lung |
43 | chr14:19641200-19641600 | Active TSS | HepG2 | liver |
44 | chr14:19641600-19642800 | Weak transcription | HepG2 | liver |
45 | chr14:19641600-19643000 | Weak transcription | A549 | lung |
46 | chr14:19642800-19643200 | Enhancers | HepG2 | liver |
47 | chr14:19643000-19643200 | Enhancers | K562 | blood |
48 | chr14:19643000-19643400 | Enhancers | A549 | lung |
49 | chr14:19649600-19650000 | Active TSS | A549 | lung |
50 | chr14:19686600-19686800 | Enhancers | Placenta | Placenta |