Variant report
Variant | nsv1042206 |
---|---|
Chromosome Location | chr14:19802529-20425497 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:2558)
- CpG islands (count:3178)
- Chromatin interactive region (count:5)
- LncRNA region (count:132)
- 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 | chr14:20387153-20387455 | HepG2 | liver: | n/a | n/a |
2 | ARID3A | chr14:20346241-20346527 | K562 | blood: | n/a | n/a |
3 | ARID3A | chr14:20346227-20346537 | HepG2 | liver: | n/a | n/a |
4 | ATF1 | chr14:20325048-20325100 | K562 | blood: | n/a | n/a |
5 | ATF1 | chr14:20374096-20374405 | K562 | blood: | n/a | n/a |
6 | ATF1 | chr14:20319622-20319703 | K562 | blood: | n/a | n/a |
7 | ATF1 | chr14:20388271-20388560 | K562 | blood: | n/a | n/a |
8 | BACH1 | chr14:20348120-20348235 | K562 | blood: | n/a | n/a |
9 | BATF | chr14:19921485-19921738 | GM12878 | blood: | n/a | n/a |
10 | BATF | chr14:19937525-19937845 | GM12878 | blood: | n/a | chr14:19937698-19937709 |
11 | BATF | chr14:20026256-20026650 | GM12878 | blood: | n/a | n/a |
12 | BATF | chr14:20131255-20131487 | GM12878 | blood: | n/a | n/a |
13 | BATF | chr14:20025031-20025541 | GM12878 | blood: | n/a | n/a |
14 | BATF | chr14:19827024-19827305 | GM12878 | blood: | n/a | n/a |
15 | BATF | chr14:19937503-19937859 | GM12878 | blood: | n/a | chr14:19937698-19937709 |
16 | BATF | chr14:20025214-20025459 | GM12878 | blood: | n/a | n/a |
17 | BATF | chr14:20085953-20086237 | GM12878 | blood: | n/a | n/a |
18 | BATF | chr14:20031700-20032016 | GM12878 | blood: | n/a | n/a |
19 | BATF | chr14:19986920-19987123 | GM12878 | blood: | n/a | n/a |
20 | BCL11A | chr14:19829015-19829207 | GM12878 | blood: | n/a | n/a |
21 | BCL11A | chr14:19826657-19827003 | GM12878 | blood: | n/a | n/a |
22 | BCL11A | chr14:19921178-19921362 | GM12878 | blood: | n/a | n/a |
23 | BCL11A | chr14:19937603-19937812 | GM12878 | blood: | n/a | n/a |
24 | BCL11A | chr14:19819837-19820033 | GM12878 | blood: | n/a | n/a |
25 | BCL11A | chr14:19827491-19827723 | GM12878 | blood: | n/a | n/a |
26 | BCL11A | chr14:19824315-19824574 | GM12878 | blood: | n/a | n/a |
27 | BCL11A | chr14:19821581-19821893 | GM12878 | blood: | n/a | n/a |
28 | BCL11A | chr14:20084307-20084477 | GM12878 | blood: | n/a | n/a |
29 | BCL11A | chr14:20025076-20025493 | GM12878 | blood: | n/a | chr14:20025351-20025360 |
30 | BCL11A | chr14:19920793-19920958 | GM12878 | blood: | n/a | n/a |
31 | BCL11A | chr14:19937474-19937874 | GM12878 | blood: | n/a | n/a |
32 | BCL11A | chr14:19826185-19826607 | GM12878 | blood: | n/a | n/a |
33 | BCL11A | chr14:19827039-19827376 | GM12878 | blood: | n/a | n/a |
34 | BHLHE40 | chr14:19921007-19921253 | HepG2 | liver: | n/a | n/a |
35 | BHLHE40 | chr14:19933072-19933376 | HepG2 | liver: | n/a | n/a |
36 | BHLHE40 | chr14:19918428-19918670 | HepG2 | liver: | n/a | n/a |
37 | BHLHE40 | chr14:19984674-19984958 | HepG2 | liver: | n/a | n/a |
38 | BHLHE40 | chr14:19925145-19925472 | HepG2 | liver: | n/a | n/a |
39 | BHLHE40 | chr14:19978638-19978868 | HepG2 | liver: | n/a | n/a |
40 | BHLHE40 | chr14:20136685-20136689 | K562 | blood: | n/a | n/a |
41 | BHLHE40 | chr14:19973726-19973967 | HepG2 | liver: | n/a | n/a |
42 | BHLHE40 | chr14:19937479-19937774 | HepG2 | liver: | n/a | n/a |
43 | BHLHE40 | chr14:19932458-19932823 | HepG2 | liver: | n/a | chr14:19932665-19932681 chr14:19932534-19932550 |
44 | CBX3 | chr14:19937708-19938010 | K562 | blood: | n/a | n/a |
45 | CBX3 | chr14:19925184-19925431 | K562 | blood: | n/a | n/a |
46 | CBX3 | chr14:19937536-19938018 | K562 | blood: | n/a | n/a |
47 | CBX3 | chr14:19925121-19925504 | K562 | blood: | n/a | n/a |
48 | CEBPB | chr14:20387999-20388479 | K562 | blood: | n/a | chr14:20388129-20388140 |
49 | CEBPB | chr14:20420582-20420802 | HepG2 | liver: | n/a | chr14:20420660-20420671 |
50 | CEBPB | chr14:20370643-20370895 | Hela-S3 | cervix: | n/a | chr14:20370744-20370755 chr14:20370732-20370743 |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr14:20344920-20344970 | HRPEpiC | eye: | n/a |
2 | chr14:20137365-20137415 | GM12878 | blood: | n/a |
3 | chr14:19888327-19888377 | HMEC | breast: | n/a |
4 | chr14:19964024-19964074 | PrEC | prostate: | n/a |
5 | chr14:19855113-19855163 | HRPEpiC | eye: | n/a |
6 | chr14:19828288-19828338 | HPAEpiC | pulmonary alveolar: | n/a |
7 | chr14:20344920-20344970 | HRPEpiC | eye: | n/a |
8 | chr14:20137365-20137415 | GM12878 | blood: | n/a |
9 | chr14:19888327-19888377 | HMEC | breast: | n/a |
10 | chr14:19964024-19964074 | PrEC | prostate: | n/a |
11 | chr14:19855113-19855163 | HRPEpiC | eye: | n/a |
12 | chr14:19828288-19828338 | HPAEpiC | pulmonary alveolar: | n/a |
13 | chr14:20295005-20295055 | MCF-7 | breast: | n/a |
14 | chr14:20147187-20147237 | Caco-2 | colon: | n/a |
15 | chr14:19960976-19961026 | BJ | skin: | n/a |
16 | chr14:19959522-19959572 | HCM | heart: | n/a |
17 | chr14:20404281-20404331 | Jurkat | blood: | n/a |
18 | chr14:20295005-20295055 | HCM | heart: | n/a |
19 | chr14:20136824-20136874 | ProgFib | skin: | n/a |
20 | chr14:20344394-20344444 | ECC-1 | luminal epithelium: | n/a |
21 | chr14:19960920-19960970 | Hela-S3 | cervix: | n/a |
22 | chr14:20146694-20146744 | LNCaP | prostate: | n/a |
23 | chr14:20106919-20106969 | SKMC | muscle: | n/a |
24 | chr14:20147652-20147702 | Caco-2 | colon: | n/a |
25 | chr14:19829406-19829456 | HCT-116 | colon: | n/a |
26 | chr14:19932946-19932996 | AG10803 | skin: | n/a |
27 | chr14:20135228-20135278 | AG10803 | skin: | n/a |
28 | chr14:20295005-20295055 | HPAEpiC | pulmonary alveolar: | n/a |
29 | chr14:20146694-20146744 | GM19239 | blood: | n/a |
30 | chr14:19960976-19961026 | LNCaP | prostate: | n/a |
31 | chr14:19964024-19964074 | HEEpiC | esophagus: | n/a |
32 | chr14:20148103-20148153 | GM12891 | blood: | n/a |
33 | chr14:20136693-20136743 | GM12892 | blood: | n/a |
34 | chr14:20146694-20146744 | AG09319 | gingival: | n/a |
35 | chr14:19887082-19887132 | HEEpiC | esophagus: | n/a |
36 | chr14:19888327-19888377 | Hela-S3 | cervix: | n/a |
37 | chr14:20020024-20020074 | T-47D | breast: | n/a |
38 | chr14:20147652-20147702 | NHDF-neo | bronchial: | n/a |
39 | chr14:20344920-20344970 | HCT-116 | colon: | n/a |
40 | chr14:20137365-20137415 | HCF | heart: | n/a |
41 | chr14:19960920-19960970 | HCPEpiC | choroid plexus: | n/a |
42 | chr14:19949555-19949605 | AG09319 | gingival: | n/a |
43 | chr14:19949555-19949605 | MCF-7 | breast: | n/a |
44 | chr14:19888327-19888377 | PFSK-1 | brain: | n/a |
45 | chr14:19855113-19855163 | NHDF-neo | bronchial: | n/a |
46 | chr14:20136822-20136872 | HRCEpiC | kidney: | n/a |
47 | chr14:20146493-20146543 | PFSK-1 | brain: | n/a |
48 | chr14:19855113-19855163 | IMR90 | lung: | fetal |
49 | chr14:20137365-20137415 | Hela-S3 | cervix: | n/a |
50 | chr14:19888629-19888679 | PrEC | prostate: | n/a |
(count:5 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr14:20382435..20385861-chr14:20389212..20390807,3 | K562 | blood: | |
2 | chr14:20378405..20379102-chr22:33621834..33622612,2 | MCF-7 | breast: | |
3 | chr14:20421291..20423829-chr14:20424473..20427279,2 | 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-POTEM-2 | chr14:19894700-19894790 | ENSG00000244306 |
2 | lnc-POTEM-4 | chr14:20146951-20147175 | ENSG00000259069.1 |
3 | lnc-POTEM-2 | chr14:19919138-19919273 | NR_110526 |
4 | lnc-POTEM-1 | chr14:19955880-19955945 | ENSG00000257931.2 |
5 | lnc-POTEM-2 | chr14:19925240-19925348 | ENSG00000244306 |
6 | lnc-POTEM-2 | chr14:19925240-19925333 | NONHSAT035520 |
7 | lnc-POTEM-1 | chr14:19963420-19963689 | ENSG00000257931 |
8 | lnc-POTEM-2 | chr14:19921359-19921455 | ENSG00000244306 |
9 | lnc-POTEM-2 | chr14:19925240-19925300 | ENSG00000244306 |
10 | lnc-POTEM-2 | chr14:19919138-19919273 | ENSG00000244306 |
11 | lnc-POTEM-2 | chr14:19919138-19919273 | ENSG00000244306 |
12 | lnc-POTEM-1 | chr14:19935898-19936380 | ENSG00000257931 |
13 | lnc-POTEM-2 | chr14:19919492-19919629 | NONHSAT035520 |
14 | lnc-POTEM-2 | chr14:19892138-19892361 | ENSG00000244306 |
15 | lnc-POTEM-2 | chr14:19921591-19921738 | ENSG00000244306 |
16 | lnc-POTEM-2 | chr14:19918476-19918662 | ENSG00000244306 |
17 | lnc-POTEM-2 | chr14:19883543-19884029 | ENSG00000244306 |
18 | lnc-POTEG-5 | chr14:19812176-19812247 | ENSG00000258188.1 |
19 | lnc-POTEM-2 | chr14:19919138-19919273 | ENSG00000244306 |
20 | lnc-POTEM-2 | chr14:19925240-19925305 | ENSG00000244306 |
21 | lnc-POTEM-2 | chr14:19921359-19921390 | NONHSAT035499 |
22 | lnc-OR4N2-1 | chr14:20149579-20149748 | ENSG00000257395 |
23 | lnc-POTEM-2 | chr14:19894700-19894794 | ENSG00000244306 |
24 | lnc-OR4N2-4 | chr14:19904259-19904571 | XLOC_010749 |
25 | lnc-POTEM-2 | chr14:19925240-19925332 | ENSG00000244306 |
26 | lnc-POTEM-2 | chr14:19880059-19884029 | ENSG00000244306 |
27 | lnc-POTEM-2 | chr14:19919138-19919273 | NONHSAT035503 |
28 | lnc-POTEM-2 | chr14:19919492-19919629 | ENSG00000244306 |
29 | lnc-POTEM-2 | chr14:19921359-19921470 | NR_110526 |
30 | lnc-POTEM-2 | chr14:19923013-19923123 | NONHSAT035521 |
31 | lnc-POTEM-2 | chr14:19919134-19919273 | ENSG00000244306 |
32 | lnc-POTEM-2 | chr14:19925240-19925346 | ENSG00000244306 |
33 | lnc-POTEM-6 | chr14:19837830-19837836 | ENSG00000257898.1 |
34 | lnc-POTEM-2 | chr14:19880596-19880882 | ENSG00000244306 |
35 | lnc-OR4N2-4 | chr14:19894369-19894691 | ENSG00000215394 |
36 | lnc-POTEM-2 | chr14:19894710-19894790 | ENSG00000244306 |
37 | lnc-POTEM-2 | chr14:19912015-19913438 | ENSG00000244306 |
38 | lnc-POTEM-2 | chr14:19856964-19857070 | NONHSAT035499 |
39 | lnc-POTEM-2 | chr14:19921359-19921470 | ENSG00000244306 |
40 | lnc-POTEM-2 | chr14:19921591-19921738 | ENSG00000244306 |
41 | lnc-POTEM-1 | chr14:19968877-19969021 | ENSG00000257931 |
42 | lnc-POTEM-2 | chr14:19919492-19919629 | NONHSAT035503 |
43 | lnc-POTEM-2 | chr14:19894700-19894790 | ENSG00000244306 |
44 | lnc-OR4N2-4 | chr14:19894369-19894691 | XLOC_010749 |
45 | lnc-POTEM-12 | chr14:19806437-19807415 | NONHSAT035495 |
46 | lnc-POTEM-2 | chr14:19925240-19925311 | ENSG00000244306 |
47 | lnc-POTEM-1 | chr14:19932012-19932316 | ENSG00000257931.2 |
48 | lnc-POTEM-2 | chr14:19894700-19894790 | ENSG00000244306 |
49 | lnc-POTEM-2 | chr14:19921359-19921470 | 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 |
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 |
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 |
OR11K2P | TF binding region |
ENSG00000257395 | TF binding region |
OR4N1P | TF binding region |
ENSG00000257493 | TF binding region |
OR4Q3 | TF binding region |
ENSG00000258276 | TF binding region |
OR4H12P | TF binding region |
ENSG00000257931 | TF binding region |
OR4K6P | 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 |
ENSG00000259016 | CpG island |
OR4K5 | 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 |
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 |
OR11K2P | CpG island |
ENSG00000257395 | CpG island |
OR4N1P | CpG island |
ENSG00000257493 | CpG island |
OR4Q3 | CpG island |
ENSG00000258276 | CpG island |
OR4H12P | CpG island |
ENSG00000257931 | CpG island |
OR4K6P | 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 |
ENSG00000258822 | chromatin interactions |
ENSG00000176290 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs572944357 | chr14:19806425-19806426 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
2 | rs540469170 | chr14:19806439-19806440 | Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
3 | rs558527073 | chr14:19806440-19806441 | Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
4 | rs28565980 | chr14:19806525-19806526 | Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
5 | rs576738347 | chr14:19806533-19806534 | Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
6 | rs184657171 | chr14:19806540-19806541 | Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
7 | rs543773570 | chr14:19806546-19806547 | Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
8 | rs562170245 | chr14:19806564-19806565 | Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
9 | rs56398359 | chr14:19806568-19806569 | Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
10 | rs200781312 | chr14:19806589-19806590 | Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
11 | rs529673257 | chr14:19806612-19806613 | ZNF genes & repeats Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
12 | rs541548567 | chr14:19806614-19806615 | ZNF genes & repeats Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
13 | rs560238847 | chr14:19806615-19806616 | ZNF genes & repeats Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
14 | rs59963194 | chr14:19806635-19806636 | ZNF genes & repeats Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
15 | rs61969439 | chr14:19806652-19806653 | ZNF genes & repeats Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
16 | rs56256752 | chr14:19806687-19806688 | ZNF genes & repeats Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
17 | rs199788434 | chr14:19806688-19806689 | ZNF genes & repeats Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
18 | rs368142494 | chr14:19806691-19806692 | ZNF genes & repeats Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
19 | rs571934654 | chr14:19806699-19806700 | ZNF genes & repeats Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
20 | rs4111007 | chr14:19806700-19806701 | ZNF genes & repeats Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
21 | rs532877010 | chr14:19806708-19806709 | ZNF genes & repeats Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
22 | rs551324389 | chr14:19806712-19806713 | ZNF genes & repeats Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
23 | rs1575832 | chr14:19806717-19806718 | ZNF genes & repeats Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
24 | rs569260377 | chr14:19806724-19806725 | ZNF genes & repeats Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
25 | rs536691517 | chr14:19806748-19806749 | ZNF genes & repeats Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
26 | rs28622122 | chr14:19806758-19806759 | ZNF genes & repeats Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
27 | rs55751436 | chr14:19806763-19806764 | ZNF genes & repeats Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
28 | rs548390543 | chr14:19806776-19806777 | ZNF genes & repeats Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
29 | rs28372158 | chr14:19806785-19806786 | ZNF genes & repeats Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
30 | rs376995043 | chr14:19806790-19806791 | ZNF genes & repeats Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
31 | rs202096054 | chr14:19806826-19806827 | ZNF genes & repeats Bivalent/Poised TSS | lncRNA | n/a | Overlapped CNVs | n/a |
32 | rs566961001 | chr14:19806839-19806840 | ZNF genes & repeats Bivalent/Poised TSS | lncRNA | n/a | Overlapped CNVs | n/a |
33 | rs533709521 | chr14:19806846-19806847 | ZNF genes & repeats Bivalent/Poised TSS | lncRNA | n/a | Overlapped CNVs | n/a |
34 | rs199994938 | chr14:19806861-19806862 | ZNF genes & repeats Bivalent/Poised TSS | lncRNA | n/a | Overlapped CNVs | n/a |
35 | rs558734936 | chr14:19806872-19806873 | ZNF genes & repeats Bivalent/Poised TSS | lncRNA | n/a | Overlapped CNVs | n/a |
36 | rs146461426 | chr14:19806874-19806875 | ZNF genes & repeats Bivalent/Poised TSS | lncRNA | n/a | Overlapped CNVs | n/a |
37 | rs576701596 | chr14:19806889-19806890 | ZNF genes & repeats Bivalent/Poised TSS | lncRNA | n/a | Overlapped CNVs | n/a |
38 | rs371491146 | chr14:19806890-19806891 | ZNF genes & repeats Bivalent/Poised TSS | lncRNA | n/a | Overlapped CNVs | n/a |
39 | rs537729007 | chr14:19806891-19806892 | ZNF genes & repeats Bivalent/Poised TSS | lncRNA | n/a | Overlapped CNVs | n/a |
40 | rs556076662 | chr14:19806900-19806901 | ZNF genes & repeats Bivalent/Poised TSS | lncRNA | n/a | Overlapped CNVs | n/a |
41 | rs188978216 | chr14:19806902-19806903 | ZNF genes & repeats Bivalent/Poised TSS | lncRNA | n/a | Overlapped CNVs | n/a |
42 | rs1853905 | chr14:19806914-19806915 | ZNF genes & repeats Bivalent/Poised TSS | lncRNA | n/a | Overlapped CNVs | n/a |
43 | rs541810641 | chr14:19806922-19806923 | ZNF genes & repeats Bivalent/Poised TSS | lncRNA | n/a | Overlapped CNVs | n/a |
44 | rs375086401 | chr14:19806945-19806946 | ZNF genes & repeats Bivalent/Poised TSS | lncRNA | n/a | Overlapped CNVs | n/a |
45 | rs559950098 | chr14:19806969-19806970 | ZNF genes & repeats Bivalent/Poised TSS | lncRNA | n/a | Overlapped CNVs | n/a |
46 | rs4982557 | chr14:19806972-19806973 | ZNF genes & repeats Bivalent/Poised TSS | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
47 | rs372001189 | chr14:19806978-19806979 | ZNF genes & repeats Bivalent/Poised TSS | lncRNA | n/a | Overlapped CNVs | n/a |
48 | rs201997704 | chr14:19806988-19806989 | ZNF genes & repeats Bivalent/Poised TSS | lncRNA | n/a | Overlapped CNVs | n/a |
49 | rs57737111 | chr14:19806996-19806997 | ZNF genes & repeats Bivalent/Poised TSS | lncRNA | n/a | Overlapped CNVs | n/a |
50 | rs61969442 | chr14:19807008-19807009 | ZNF genes & repeats Bivalent/Poised TSS | 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 |
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 |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Chronic myeloid leukemia | 20724749 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | 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 |
Ependymoma | 20639864 | CNVD |
Autism | 20531469 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Non-syndromic sensorineural hearing loss | 17431168 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr14:19806400-19806800 | Active TSS | Brain Substantia Nigra | brain |
2 | chr14:19806600-19807200 | ZNF genes & repeats | iPS DF 6.9 Cell Line | embryonic stem cell |
3 | chr14:19806800-19807400 | Bivalent/Poised TSS | Brain Substantia Nigra | brain |
4 | chr14:19807200-19810800 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
5 | chr14:19810800-19811000 | ZNF genes & repeats | iPS DF 6.9 Cell Line | embryonic stem cell |
6 | chr14:19811000-19812800 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
7 | chr14:19812800-19813000 | ZNF genes & repeats | iPS DF 6.9 Cell Line | embryonic stem cell |
8 | chr14:19814600-19814800 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
9 | chr14:19814800-19817400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
10 | chr14:19817400-19820200 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
11 | chr14:19818600-19823600 | Weak transcription | Pancreas | Pancrea |
12 | chr14:19819400-19820200 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
13 | chr14:19819600-19819800 | Bivalent/Poised TSS | Colon Smooth Muscle | Colon |
14 | chr14:19819600-19820000 | ZNF genes & repeats | iPS-15b Cell Line | embryonic stem cell |
15 | chr14:19819600-19820000 | ZNF genes & repeats | iPS DF 6.9 Cell Line | embryonic stem cell |
16 | chr14:19819600-19820000 | Active TSS | Fetal Heart | heart |
17 | chr14:19820000-19820200 | Bivalent/Poised TSS | Skeletal Muscle Male | skeletal muscle |
18 | chr14:19823000-19824000 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
19 | chr14:19823600-19823800 | Active TSS | Pancreas | Pancrea |
20 | chr14:19825800-19826400 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
21 | chr14:19828600-19829200 | Active TSS | HepG2 | liver |
22 | chr14:19856800-19857000 | Enhancers | HepG2 | liver |
23 | chr14:19857000-19857800 | Weak transcription | HepG2 | liver |
24 | chr14:19857800-19860000 | Enhancers | HepG2 | liver |
25 | chr14:19871800-19872000 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
26 | chr14:19878000-19878600 | Enhancers | Dnd41 | blood |
27 | chr14:19885600-19888800 | Weak transcription | A549 | lung |
28 | chr14:19887200-19890200 | Weak transcription | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
29 | chr14:19887400-19894400 | Weak transcription | HepG2 | liver |
30 | chr14:19888400-19888600 | Active TSS | HUES6 Cell Line | embryonic stem cell |
31 | chr14:19888400-19889000 | Enhancers | Placenta | Placenta |
32 | chr14:19888400-19891000 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
33 | chr14:19888600-19888800 | Flanking Bivalent TSS/Enh | HUES6 Cell Line | embryonic stem cell |
34 | chr14:19888600-19889000 | ZNF genes & repeats | iPS DF 6.9 Cell Line | embryonic stem cell |
35 | chr14:19888600-19890400 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell |
36 | chr14:19888600-19891000 | ZNF genes & repeats | Fetal Adrenal Gland | Adrenal Gland |
37 | chr14:19888600-19891200 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
38 | chr14:19888800-19889000 | ZNF genes & repeats | A549 | lung |
39 | chr14:19888800-19889200 | Bivalent/Poised TSS | HUES6 Cell Line | embryonic stem cell |
40 | chr14:19889000-19892600 | Weak transcription | A549 | lung |
41 | chr14:19889800-19891000 | ZNF genes & repeats | Foreskin Fibroblast Primary Cells skin02 | Skin |
42 | chr14:19890000-19891000 | ZNF genes & repeats | Dnd41 | blood |
43 | chr14:19890200-19891200 | Strong transcription | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
44 | chr14:19890600-19891000 | ZNF genes & repeats | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
45 | chr14:19890800-19891000 | ZNF genes & repeats | Fetal Kidney | kidney |
46 | chr14:19890800-19891200 | ZNF genes & repeats | K562 | blood |
47 | chr14:19891000-19891200 | Enhancers | Dnd41 | blood |
48 | chr14:19891000-19893000 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
49 | chr14:19891200-19894200 | Weak transcription | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
50 | chr14:19893000-19893200 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |