Variant report
Variant | esv2759971 |
---|---|
Chromosome Location | chr14:19662531-20556187 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:3627)
- CpG islands (count:3911)
- Chromatin interactive region (count:12)
- LncRNA region (count:166)
- 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 | chr14:20346241-20346527 | K562 | blood: | n/a | n/a |
3 | ARID3A | chr14:20387153-20387455 | HepG2 | liver: | n/a | n/a |
4 | ARID3A | chr14:20512405-20512844 | K562 | blood: | n/a | n/a |
5 | ATF1 | chr14:20325048-20325100 | K562 | blood: | n/a | n/a |
6 | ATF1 | chr14:20388271-20388560 | K562 | blood: | n/a | n/a |
7 | ATF1 | chr14:19795048-19796237 | K562 | blood: | n/a | n/a |
8 | ATF1 | chr14:20319622-20319703 | K562 | blood: | n/a | n/a |
9 | ATF1 | chr14:19697695-19697910 | K562 | blood: | n/a | n/a |
10 | ATF1 | chr14:19792967-19794009 | K562 | blood: | n/a | n/a |
11 | ATF1 | chr14:20374096-20374405 | K562 | blood: | n/a | n/a |
12 | ATF3 | chr14:20512489-20512787 | K562 | blood: | n/a | n/a |
13 | BACH1 | chr14:19795663-19796213 | K562 | blood: | n/a | n/a |
14 | BACH1 | chr14:20348120-20348235 | K562 | blood: | n/a | n/a |
15 | BATF | chr14:19748478-19748726 | GM12878 | blood: | n/a | n/a |
16 | BATF | chr14:19937503-19937859 | GM12878 | blood: | n/a | chr14:19937698-19937709 |
17 | BATF | chr14:20085953-20086237 | GM12878 | blood: | n/a | n/a |
18 | BATF | chr14:19827024-19827305 | GM12878 | blood: | n/a | n/a |
19 | BATF | chr14:19921485-19921738 | GM12878 | blood: | n/a | n/a |
20 | BATF | chr14:20031700-20032016 | GM12878 | blood: | n/a | n/a |
21 | BATF | chr14:20025031-20025541 | GM12878 | blood: | n/a | n/a |
22 | BATF | chr14:20131255-20131487 | GM12878 | blood: | n/a | n/a |
23 | BATF | chr14:20025214-20025459 | GM12878 | blood: | n/a | n/a |
24 | BATF | chr14:19986920-19987123 | GM12878 | blood: | n/a | n/a |
25 | BATF | chr14:20026256-20026650 | GM12878 | blood: | n/a | n/a |
26 | BATF | chr14:19937525-19937845 | GM12878 | blood: | n/a | chr14:19937698-19937709 |
27 | BCL11A | chr14:19827491-19827723 | GM12878 | blood: | n/a | n/a |
28 | BCL11A | chr14:19748843-19749025 | GM12878 | blood: | n/a | n/a |
29 | BCL11A | chr14:19747489-19747677 | GM12878 | blood: | n/a | n/a |
30 | BCL11A | chr14:19920793-19920958 | GM12878 | blood: | n/a | n/a |
31 | BCL11A | chr14:19921178-19921362 | GM12878 | blood: | n/a | n/a |
32 | BCL11A | chr14:19827039-19827376 | GM12878 | blood: | n/a | n/a |
33 | BCL11A | chr14:19748407-19748711 | GM12878 | blood: | n/a | n/a |
34 | BCL11A | chr14:19829015-19829207 | GM12878 | blood: | n/a | n/a |
35 | BCL11A | chr14:19824315-19824574 | GM12878 | blood: | n/a | n/a |
36 | BCL11A | chr14:19826185-19826607 | GM12878 | blood: | n/a | n/a |
37 | BCL11A | chr14:19776347-19776520 | GM12878 | blood: | n/a | n/a |
38 | BCL11A | chr14:19826657-19827003 | GM12878 | blood: | n/a | n/a |
39 | BCL11A | chr14:19819837-19820033 | GM12878 | blood: | n/a | n/a |
40 | BCL11A | chr14:19937474-19937874 | GM12878 | blood: | n/a | n/a |
41 | BCL11A | chr14:19747728-19747905 | GM12878 | blood: | n/a | n/a |
42 | BCL11A | chr14:19753894-19754206 | GM12878 | blood: | n/a | n/a |
43 | BCL11A | chr14:19746165-19746357 | GM12878 | blood: | n/a | n/a |
44 | BCL11A | chr14:20025076-20025493 | GM12878 | blood: | n/a | chr14:20025351-20025360 |
45 | BCL11A | chr14:19937603-19937812 | GM12878 | blood: | n/a | n/a |
46 | BCL11A | chr14:19821581-19821893 | GM12878 | blood: | n/a | n/a |
47 | BCL11A | chr14:20084307-20084477 | GM12878 | blood: | n/a | n/a |
48 | BHLHE40 | chr14:19921007-19921253 | HepG2 | liver: | n/a | n/a |
49 | BHLHE40 | chr14:19973726-19973967 | HepG2 | liver: | n/a | n/a |
50 | BHLHE40 | chr14:19932458-19932823 | HepG2 | liver: | n/a | chr14:19932665-19932681 chr14:19932534-19932550 |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr14:19890601-19890651 | HCF | heart: | n/a |
2 | chr14:20403845-20403895 | T-47D | breast: | n/a |
3 | chr14:20147652-20147702 | HCM | heart: | n/a |
4 | chr14:20444164-20444214 | HEEpiC | esophagus: | n/a |
5 | chr14:20444164-20444214 | BJ | skin: | n/a |
6 | chr14:20147652-20147702 | ECC-1 | luminal epithelium: | n/a |
7 | chr14:19964024-19964074 | HepG2 | liver: | n/a |
8 | chr14:19890601-19890651 | HCF | heart: | n/a |
9 | chr14:20403845-20403895 | T-47D | breast: | n/a |
10 | chr14:20147652-20147702 | HCM | heart: | n/a |
11 | chr14:20444164-20444214 | HEEpiC | esophagus: | n/a |
12 | chr14:20444164-20444214 | BJ | skin: | n/a |
13 | chr14:20147652-20147702 | ECC-1 | luminal epithelium: | n/a |
14 | chr14:19964024-19964074 | HepG2 | liver: | n/a |
15 | chr14:19855113-19855163 | SK-N-SH | brain: | n/a |
16 | chr14:19855384-19855434 | HRE | kidney: | n/a |
17 | chr14:19888434-19888484 | GM12878 | blood: | n/a |
18 | chr14:20444164-20444214 | HCT-116 | colon: | n/a |
19 | chr14:19746900-19746950 | HRE | kidney: | n/a |
20 | chr14:19829406-19829456 | HUVEC | blood vessel: | n/a |
21 | chr14:19719117-19719167 | SK-N-SH | brain: | n/a |
22 | chr14:19888327-19888377 | HEEpiC | esophagus: | n/a |
23 | chr14:20482899-20482949 | BJ | skin: | n/a |
24 | chr14:19960976-19961026 | GM06990 | blood: | n/a |
25 | chr14:19890087-19890137 | U87 | brain: | n/a |
26 | chr14:20134518-20134568 | AG04450 | lung: | fetal |
27 | chr14:20106919-20106969 | GM06990 | blood: | n/a |
28 | chr14:19932946-19932996 | HPAEpiC | pulmonary alveolar: | n/a |
29 | chr14:19888629-19888679 | LNCaP | prostate: | n/a |
30 | chr14:19686672-19686722 | AG10803 | skin: | n/a |
31 | chr14:20020762-20020812 | NT2-D1 | testis: | n/a |
32 | chr14:19686672-19686722 | SKMC | muscle: | n/a |
33 | chr14:20148125-20148175 | AG10803 | skin: | n/a |
34 | chr14:19745841-19745891 | ProgFib | skin: | n/a |
35 | chr14:20528812-20528862 | GM19239 | blood: | n/a |
36 | chr14:19686672-19686722 | BE2_C | brain: | n/a |
37 | chr14:19887082-19887132 | HEEpiC | esophagus: | n/a |
38 | chr14:20482899-20482949 | A549 | lung: | n/a |
39 | chr14:20344083-20344133 | HPAEpiC | pulmonary alveolar: | n/a |
40 | chr14:19887082-19887132 | AoSMC | blood vessel: | n/a |
41 | chr14:19962440-19962490 | GM19239 | blood: | n/a |
42 | chr14:20135228-20135278 | HCPEpiC | choroid plexus: | n/a |
43 | chr14:20528812-20528862 | BJ | skin: | n/a |
44 | chr14:20148103-20148153 | GM06990 | blood: | n/a |
45 | chr14:20020668-20020718 | GM19239 | blood: | n/a |
46 | chr14:20135228-20135278 | H1-hESC | embryonic stem cell: | embryo |
47 | chr14:20404281-20404331 | HPAEpiC | pulmonary alveolar: | n/a |
48 | chr14:19855113-19855163 | NH-A | brain: | n/a |
49 | chr14:20134518-20134568 | HPAEpiC | pulmonary alveolar: | n/a |
50 | chr14:20528812-20528862 | Hepatocyte | liver: | n/a |
(count:12 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr14:20378405..20379102-chr22:33621834..33622612,2 | MCF-7 | breast: | |
2 | chr14:20453392..20455779-chr14:20560575..20562246,2 | K562 | blood: | |
3 | chr14:20530040..20532845-chr14:20547946..20550280,2 | K562 | blood: | |
4 | chr14:20518924..20521802-chr14:20525808..20527615,2 | K562 | blood: | |
5 | chr14:20421291..20423829-chr14:20424473..20427279,2 | MCF-7 | breast: | |
6 | chr14:20330082..20332945-chr14:20336237..20338891,2 | K562 | blood: | |
7 | chr14:20479309..20481272-chr14:20484820..20486760,2 | K562 | blood: | |
8 | chr14:20530040..20532845-chr14:20547946..20550280,2 | K562 | blood: | |
9 | chr14:20382435..20385861-chr14:20389212..20390807,3 | K562 | blood: | |
10 | chr14:20518924..20521802-chr14:20525808..20527615,2 | K562 | blood: | |
11 | chr14:20479309..20481272-chr14:20484820..20486760,2 | K562 | blood: | |
12 | chr14:20382435..20385861-chr14:20389212..20390807,3 | K562 | blood: |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-POTEM-2 | chr14:19894700-19894790 | NR_110526 |
2 | lnc-POTEM-2 | chr14:19891517-19892052 | ENSG00000244306 |
3 | lnc-POTEM-2 | chr14:19919492-19919629 | NONHSAT140152 |
4 | lnc-POTEM-2 | chr14:19919492-19919629 | ENSG00000244306 |
5 | lnc-POTEG-4 | chr14:19680591-19680685 | ENSG00000225210 |
6 | lnc-POTEG-4 | chr14:19691355-19691701 | ENSG00000225210 |
7 | lnc-POTEM-2 | chr14:19919138-19919273 | ENSG00000244306 |
8 | lnc-POTEG-4 | chr14:19662179-19662608 | ENSG00000225210 |
9 | lnc-POTEM-5 | chr14:19740033-19742744 | ENSG00000257310 |
10 | lnc-POTEM-2 | chr14:19923013-19923123 | ENSG00000244306 |
11 | lnc-POTEM-2 | chr14:19881070-19881410 | ucscGeneNc_uc001vxa_1 |
12 | lnc-POTEG-4 | chr14:19680595-19681519 | ENSG00000225210 |
13 | lnc-POTEG-4 | chr14:19680595-19680685 | ENSG00000225210 |
14 | lnc-POTEM-2 | chr14:19919138-19919273 | ENSG00000244306 |
15 | lnc-POTEM-2 | chr14:19919492-19919629 | NONHSAT035521 |
16 | lnc-POTEM-2 | chr14:19921359-19921470 | ENSG00000244306 |
17 | lnc-POTEM-2 | chr14:19921591-19921738 | ENSG00000244306 |
18 | lnc-POTEM-2 | chr14:19923013-19923123 | NR_110526 |
19 | lnc-POTEM-1 | chr14:19932012-19932316 | ENSG00000257931 |
20 | lnc-POTEM-7 | chr14:19678513-19678600 | ENSG00000228294 |
21 | lnc-OR4N2-3 | chr14:20008836-20010956 | NR_110505 |
22 | lnc-OR4N2-1 | chr14:20149579-20149748 | ENSG00000257395 |
23 | lnc-POTEM-6 | chr14:19887445-19887497 | ENSG00000257898.1 |
24 | lnc-POTEM-2 | chr14:19882468-19884029 | NR_110526 |
25 | lnc-OR4N2-1 | chr14:20150010-20150118 | ENSG00000257395 |
26 | lnc-POTEM-2 | chr14:19925240-19925305 | ENSG00000244306 |
27 | lnc-POTEM-2 | chr14:19921359-19921470 | NONHSAT035521 |
28 | lnc-POTEM-1 | chr14:19968877-19969021 | ENSG00000257931 |
29 | lnc-POTEM-2 | chr14:19918476-19918662 | ENSG00000244306 |
30 | lnc-POTEM-6 | chr14:19837830-19837836 | ENSG00000257898.1 |
31 | lnc-POTEG-4 | chr14:19680595-19680685 | ENSG00000225210 |
32 | lnc-OR4N2-3 | chr14:20008836-20010958 | ENSG00000258276 |
33 | lnc-OR4N2-4 | chr14:19894369-19894691 | ENSG00000215394 |
34 | lnc-POTEM-2 | chr14:19921591-19921738 | ENSG00000244306 |
35 | lnc-POTEG-4 | chr14:19680595-19680685 | ENSG00000225210 |
36 | lnc-POTEM-2 | chr14:19919492-19919629 | ENSG00000244306 |
37 | lnc-POTEM-4 | chr14:20145803-20146140 | ENSG00000259069.1 |
38 | lnc-POTEG-4 | chr14:19683692-19684834 | ENSG00000225210 |
39 | lnc-POTEG-4 | chr14:19691355-19695180 | ENSG00000225210 |
40 | lnc-POTEM-2 | chr14:19894700-19894790 | ENSG00000244306 |
41 | lnc-POTEM-1 | chr14:19963420-19963645 | ENSG00000257931.2 |
42 | lnc-POTEG-4 | chr14:19691355-19691922 | ENSG00000225210 |
43 | lnc-POTEM-2 | chr14:19892138-19892361 | ENSG00000244306 |
44 | lnc-POTEM-2 | chr14:19925240-19925294 | NONHSAT035522 |
45 | lnc-POTEM-7 | chr14:19673473-19673623 | ENSG00000228294 |
46 | lnc-POTEG-4 | chr14:19683336-19683870 | ENSG00000225210 |
47 | lnc-POTEM-2 | chr14:19925240-19925334 | NR_110526 |
48 | lnc-POTEM-2 | chr14:19919138-19919273 | ENSG00000244306 |
49 | lnc-POTEM-2 | chr14:19925240-19925332 | ENSG00000244306 |
50 | lnc-POTEM-2 | chr14:19919492-19919629 | NONHSAT035520 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000259016 | TF binding region |
OR4K5 | TF binding region |
ENSG00000244306 | TF binding region |
ENSG00000257142 | TF binding region |
RNA5SP380 | TF binding region |
ENSG00000259069 | TF binding region |
OR4K13 | 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 |
OR4K14 | 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 |
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 |
ENSG00000265199 | TF binding region |
OR11K2P | TF binding region |
OR4K15 | TF binding region |
ENSG00000257395 | TF binding region |
OR4N1P | TF binding region |
ENSG00000257493 | TF binding region |
OR4L1 | TF binding region |
OR4Q2 | 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 |
OR4U1P | 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 |
ENSG00000244306 | CpG island |
ENSG00000257142 | CpG island |
RNA5SP380 | CpG island |
ENSG00000259069 | CpG island |
OR4K13 | CpG island |
OR4K4P | CpG island |
ENSG00000257884 | CpG island |
ENSG00000258324 | CpG island |
OR4K3 | CpG island |
ARHGAP42P4 | CpG island |
ENSG00000238492 | CpG island |
OR4K16P | CpG island |
OR4K14 | CpG island |
ENSG00000257573 | CpG island |
ENSG00000257846 | CpG island |
BMS1P18 | CpG island |
OR11H2 | CpG island |
ENSG00000257357 | CpG island |
ENSG00000257868 | CpG island |
OR4N2 | 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 |
ENSG00000265199 | CpG island |
OR11K2P | CpG island |
OR4K15 | CpG island |
ENSG00000257395 | CpG island |
OR4N1P | CpG island |
ENSG00000257493 | CpG island |
OR4L1 | CpG island |
OR4Q2 | CpG island |
OR4Q3 | CpG island |
ENSG00000258276 | CpG island |
ENSG00000271632 | CpG island |
OR4H12P | CpG island |
ENSG00000257931 | CpG island |
OR4K6P | CpG island |
OR4U1P | 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 |
ENSG00000258641 | chromatin interactions |
ENSG00000176290 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs558032949 | chr14:19670493-19670494 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
2 | rs575917362 | chr14:19670513-19670514 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
3 | rs375448587 | chr14:19670539-19670540 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
4 | rs74034511 | chr14:19670550-19670551 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
5 | rs543420880 | chr14:19670589-19670590 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
6 | rs561380159 | chr14:19670606-19670607 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
7 | rs28663402 | chr14:19670609-19670610 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
8 | rs528932119 | chr14:19670675-19670676 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
9 | rs540772865 | chr14:19670684-19670685 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
10 | rs185934595 | chr14:19670686-19670687 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
11 | rs527897505 | chr14:19670690-19670691 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
12 | rs191575147 | chr14:19670702-19670703 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
13 | rs571145305 | chr14:19670703-19670704 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
14 | rs373121773 | chr14:19670744-19670745 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
15 | rs531575350 | chr14:19670749-19670750 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
16 | rs74849323 | chr14:19670757-19670758 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
17 | rs550185676 | chr14:19670770-19670771 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
18 | rs202216116 | chr14:19670785-19670786 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
19 | rs568497093 | chr14:19670883-19670884 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
20 | rs535952167 | chr14:19670907-19670908 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
21 | rs370601764 | chr14:19670945-19670946 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
22 | rs554314073 | chr14:19670993-19670994 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
23 | rs565688383 | chr14:19670998-19670999 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
24 | rs539638975 | chr14:19670999-19671000 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
25 | rs557731785 | chr14:19671076-19671077 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
26 | rs202229483 | chr14:19671091-19671092 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
27 | rs536973658 | chr14:19671095-19671096 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
28 | rs375298952 | chr14:19673713-19673714 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs540947723 | chr14:19673739-19673740 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs58922108 | chr14:19673988-19673989 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs374953118 | chr14:19673990-19673991 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs373123039 | chr14:19674016-19674017 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs2843205 | chr14:19674086-19674087 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs112374622 | chr14:19674207-19674208 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs528369185 | chr14:19676140-19676141 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
36 | rs546622078 | chr14:19676143-19676144 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
37 | rs571185405 | chr14:19676157-19676158 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
38 | rs538274288 | chr14:19676166-19676167 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
39 | rs556981525 | chr14:19676167-19676168 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
40 | rs202028052 | chr14:19676449-19676450 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
41 | rs576526393 | chr14:19676454-19676455 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
42 | rs536378821 | chr14:19676634-19676635 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
43 | rs555992115 | chr14:19676687-19676688 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
44 | rs553393849 | chr14:19676972-19676973 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
45 | rs373792814 | chr14:19677026-19677027 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
46 | rs577942357 | chr14:19677034-19677035 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
47 | rs545090592 | chr14:19677043-19677044 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
48 | rs563377627 | chr14:19677044-19677045 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
49 | rs530893129 | chr14:19677048-19677049 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
50 | rs542762050 | chr14:19677068-19677069 | Inactive region | TF binding region | 2 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 |
Urothelial carcinoma | 21177765 | 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 |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Breast cancer | 22522925 | 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 |
Non-syndromic sensorineural hearing loss | 18451855 | 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 | chr14:19686600-19686800 | Enhancers | Placenta | Placenta |
2 | chr14:19761400-19761600 | Enhancers | Dnd41 | blood |
3 | chr14:19763800-19764600 | Weak transcription | Dnd41 | blood |
4 | chr14:19764600-19764800 | Enhancers | Dnd41 | blood |
5 | chr14:19764800-19766400 | Weak transcription | Dnd41 | blood |
6 | chr14:19766400-19768200 | Enhancers | Dnd41 | blood |
7 | chr14:19768200-19771800 | Weak transcription | Dnd41 | blood |
8 | chr14:19771800-19772200 | Active TSS | Dnd41 | blood |
9 | chr14:19772200-19772600 | Flanking Active TSS | Dnd41 | blood |
10 | chr14:19772600-19772800 | Active TSS | Dnd41 | blood |
11 | chr14:19772800-19774000 | Transcr. at gene 5' and 3' | Dnd41 | blood |
12 | chr14:19774000-19775200 | Weak transcription | Dnd41 | blood |
13 | chr14:19775200-19775600 | Flanking Active TSS | Dnd41 | blood |
14 | chr14:19775600-19781000 | Weak transcription | Dnd41 | blood |
15 | chr14:19781000-19781200 | Enhancers | Dnd41 | blood |
16 | chr14:19781200-19783600 | Weak transcription | Dnd41 | blood |
17 | chr14:19783800-19784200 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
18 | chr14:19784000-19784200 | Enhancers | Dnd41 | blood |
19 | chr14:19785800-19786000 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
20 | chr14:19789600-19790400 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
21 | chr14:19792800-19794200 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
22 | chr14:19793000-19793200 | Bivalent/Poised TSS | Brain Hippocampus Middle | brain |
23 | chr14:19793000-19793400 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
24 | chr14:19793000-19793800 | ZNF genes & repeats | Fetal Lung | lung |
25 | chr14:19793000-19796000 | ZNF genes & repeats | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
26 | chr14:19793000-19796000 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
27 | chr14:19793000-19796000 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
28 | chr14:19793000-19796200 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
29 | chr14:19793200-19794400 | ZNF genes & repeats | iPS-15b Cell Line | embryonic stem cell |
30 | chr14:19793400-19795400 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
31 | chr14:19794000-19796000 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
32 | chr14:19794800-19795400 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
33 | chr14:19795000-19796200 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
34 | chr14:19795200-19795800 | Enhancers | Pancreatic Islets | Pancreatic Islet |
35 | chr14:19795200-19796000 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
36 | chr14:19795400-19795600 | Flanking Active TSS | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
37 | chr14:19795600-19795800 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
38 | chr14:19795800-19796000 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
39 | chr14:19795800-19796000 | Flanking Active TSS | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
40 | chr14:19806400-19806800 | Active TSS | Brain Substantia Nigra | brain |
41 | chr14:19806600-19807200 | ZNF genes & repeats | iPS DF 6.9 Cell Line | embryonic stem cell |
42 | chr14:19806800-19807400 | Bivalent/Poised TSS | Brain Substantia Nigra | brain |
43 | chr14:19807200-19810800 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
44 | chr14:19810800-19811000 | ZNF genes & repeats | iPS DF 6.9 Cell Line | embryonic stem cell |
45 | chr14:19811000-19812800 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
46 | chr14:19812800-19813000 | ZNF genes & repeats | iPS DF 6.9 Cell Line | embryonic stem cell |
47 | chr14:19814600-19814800 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
48 | chr14:19814800-19817400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
49 | chr14:19817400-19820200 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
50 | chr14:19818600-19823600 | Weak transcription | Pancreas | Pancrea |