Variant report
Variant | nsv525460 |
---|---|
Chromosome Location | chr14:66851185-67626594 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:5114)
- CpG islands (count:1345)
- Chromatin interactive region (count:189)
- LncRNA region (count:110)
- 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 | chr14:67584896-67585229 | K562 | blood: | n/a | n/a |
2 | ARID3A | chr14:67426302-67426423 | K562 | blood: | n/a | n/a |
3 | ARID3A | chr14:67224984-67225061 | HepG2 | liver: | n/a | n/a |
4 | ARID3A | chr14:66943630-66944120 | K562 | blood: | n/a | n/a |
5 | ARID3A | chr14:67604519-67604819 | K562 | blood: | n/a | n/a |
6 | ARID3A | chr14:67213116-67213393 | K562 | blood: | n/a | n/a |
7 | ARID3A | chr14:67511249-67511316 | HepG2 | liver: | n/a | n/a |
8 | ARID3A | chr14:67091021-67091430 | HepG2 | liver: | n/a | n/a |
9 | ARID3A | chr14:67584937-67585164 | HepG2 | liver: | n/a | n/a |
10 | ARID3A | chr14:67398824-67399024 | HepG2 | liver: | n/a | n/a |
11 | ARID3A | chr14:66956744-66957309 | HepG2 | liver: | n/a | n/a |
12 | ARID3A | chr14:66974467-66974983 | HepG2 | liver: | n/a | n/a |
13 | ARID3A | chr14:67604512-67604786 | HepG2 | liver: | n/a | n/a |
14 | ARID3A | chr14:66938316-66938720 | K562 | blood: | n/a | n/a |
15 | ARID3A | chr14:66962189-66962849 | HepG2 | liver: | n/a | n/a |
16 | ATF1 | chr14:66938376-66938538 | K562 | blood: | n/a | n/a |
17 | ATF1 | chr14:67556844-67556968 | K562 | blood: | n/a | n/a |
18 | ATF1 | chr14:67511217-67511586 | K562 | blood: | n/a | n/a |
19 | ATF1 | chr14:67511991-67512190 | K562 | blood: | n/a | n/a |
20 | ATF1 | chr14:66943722-66944012 | K562 | blood: | n/a | n/a |
21 | ATF1 | chr14:67486765-67486805 | K562 | blood: | n/a | n/a |
22 | ATF2 | chr14:67218758-67219207 | GM12878 | blood: | n/a | n/a |
23 | ATF2 | chr14:66974420-66974930 | GM12878 | blood: | n/a | n/a |
24 | ATF2 | chr14:66975470-66976275 | GM12878 | blood: | n/a | n/a |
25 | ATF2 | chr14:67116096-67116807 | GM12878 | blood: | n/a | n/a |
26 | ATF2 | chr14:67117111-67117794 | GM12878 | blood: | n/a | n/a |
27 | ATF2 | chr14:67116077-67116922 | GM12878 | blood: | n/a | n/a |
28 | ATF2 | chr14:67485387-67485875 | GM12878 | blood: | n/a | n/a |
29 | ATF2 | chr14:67068624-67069317 | GM12878 | blood: | n/a | n/a |
30 | ATF2 | chr14:67485530-67485788 | GM12878 | blood: | n/a | n/a |
31 | ATF2 | chr14:67218740-67219290 | GM12878 | blood: | n/a | n/a |
32 | ATF2 | chr14:67068645-67069233 | GM12878 | blood: | n/a | n/a |
33 | ATF2 | chr14:66865028-66865554 | GM12878 | blood: | n/a | n/a |
34 | ATF2 | chr14:67117239-67117647 | GM12878 | blood: | n/a | n/a |
35 | ATF2 | chr14:66974402-66975178 | GM12878 | blood: | n/a | n/a |
36 | BACH1 | chr14:66975534-66975633 | H1-hESC | embryonic stem cell: | n/a | n/a |
37 | BACH1 | chr14:67498772-67499037 | H1-hESC | embryonic stem cell: | n/a | n/a |
38 | BACH1 | chr14:67119428-67119712 | H1-hESC | embryonic stem cell: | n/a | n/a |
39 | BACH1 | chr14:67305949-67305970 | K562 | blood: | n/a | n/a |
40 | BACH1 | chr14:66974040-66975236 | H1-hESC | embryonic stem cell: | n/a | n/a |
41 | BATF | chr14:67485470-67485766 | GM12878 | blood: | n/a | n/a |
42 | BATF | chr14:67446173-67446665 | GM12878 | blood: | n/a | n/a |
43 | BATF | chr14:67464772-67465078 | GM12878 | blood: | n/a | n/a |
44 | BATF | chr14:67464730-67465080 | GM12878 | blood: | n/a | n/a |
45 | BATF | chr14:67116255-67116675 | GM12878 | blood: | n/a | chr14:67116456-67116467 |
46 | BATF | chr14:67068644-67069039 | GM12878 | blood: | n/a | n/a |
47 | BATF | chr14:67068665-67068988 | GM12878 | blood: | n/a | n/a |
48 | BATF | chr14:66865279-66865459 | GM12878 | blood: | n/a | chr14:66865339-66865350 |
49 | BATF | chr14:67117290-67117681 | GM12878 | blood: | n/a | n/a |
50 | BATF | chr14:67117185-67117684 | GM12878 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr14:66974032-66974082 | SK-N-SH_RA | brain: | n/a |
2 | chr14:67292488-67292538 | HPAEpiC | pulmonary alveolar: | n/a |
3 | chr14:66974904-66974954 | HMEC | breast: | n/a |
4 | chr14:66974032-66974082 | SK-N-SH_RA | brain: | n/a |
5 | chr14:67292488-67292538 | HPAEpiC | pulmonary alveolar: | n/a |
6 | chr14:66974904-66974954 | HMEC | breast: | n/a |
7 | chr14:66963628-66963678 | AG04450 | lung: | fetal |
8 | chr14:67061310-67061360 | SKMC | muscle: | n/a |
9 | chr14:66973361-66973411 | HL-60 | blood: | n/a |
10 | chr14:66975296-66975346 | ProgFib | skin: | n/a |
11 | chr14:66976062-66976112 | HEEpiC | esophagus: | n/a |
12 | chr14:66974622-66974672 | Hepatocyte | liver: | n/a |
13 | chr14:66975372-66975422 | HRE | kidney: | n/a |
14 | chr14:66974439-66974489 | HRE | kidney: | n/a |
15 | chr14:66972956-66973006 | ECC-1 | luminal epithelium: | n/a |
16 | chr14:66974904-66974954 | HRE | kidney: | n/a |
17 | chr14:67579178-67579228 | SKMC | muscle: | n/a |
18 | chr14:66974634-66974684 | GM12891 | blood: | n/a |
19 | chr14:66975296-66975346 | PFSK-1 | brain: | n/a |
20 | chr14:66975296-66975346 | GM12891 | blood: | n/a |
21 | chr14:66980127-66980177 | HCM | heart: | n/a |
22 | chr14:66974163-66974213 | HEK293 | kidney: | embryo |
23 | chr14:66974622-66974672 | A549 | lung: | n/a |
24 | chr14:66974051-66974101 | AG10803 | skin: | n/a |
25 | chr14:66976276-66976326 | Hepatocyte | liver: | n/a |
26 | chr14:66963628-66963678 | GM12891 | blood: | n/a |
27 | chr14:66963628-66963678 | PANC-1 | pancreas: | n/a |
28 | chr14:66974051-66974101 | RPTEC | kidney: | n/a |
29 | chr14:66975372-66975422 | HRPEpiC | eye: | n/a |
30 | chr14:66974439-66974489 | Caco-2 | colon: | n/a |
31 | chr14:66976062-66976112 | NT2-D1 | testis: | n/a |
32 | chr14:66974439-66974489 | NHDF-neo | bronchial: | n/a |
33 | chr14:66970921-66970971 | ProgFib | skin: | n/a |
34 | chr14:66970921-66970971 | AG09319 | gingival: | n/a |
35 | chr14:66974622-66974672 | HCF | heart: | n/a |
36 | chr14:66974622-66974672 | AG04449 | skin: | fetal |
37 | chr14:66974622-66974672 | HRE | kidney: | n/a |
38 | chr14:66974051-66974101 | CMK | blood: | n/a |
39 | chr14:66980127-66980177 | GM19239 | blood: | n/a |
40 | chr14:67579178-67579228 | ECC-1 | luminal epithelium: | n/a |
41 | chr14:66970921-66970971 | LNCaP | prostate: | n/a |
42 | chr14:67012668-67012718 | ECC-1 | luminal epithelium: | n/a |
43 | chr14:66974163-66974213 | LNCaP | prostate: | n/a |
44 | chr14:66974439-66974489 | Hela-S3 | cervix: | n/a |
45 | chr14:66975372-66975422 | SK-N-MC | brain: | n/a |
46 | chr14:66974622-66974672 | HAEpiC | amniotic membrane: | n/a |
47 | chr14:66974634-66974684 | HRCEpiC | kidney: | n/a |
48 | chr14:66975296-66975346 | PANC-1 | pancreas: | n/a |
49 | chr14:66976062-66976112 | HUVEC | blood vessel: | n/a |
50 | chr14:66974904-66974954 | MCF10A-Er-Src | breast: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:54327806..54328648-chr14:67620411..67621068,2 | MCF-7 | breast: | |
2 | chr14:67406512..67408916-chr14:67410508..67412779,2 | MCF-7 | breast: | |
3 | chr14:67477930..67479660-chr14:67487049..67490010,2 | K562 | blood: | |
4 | chr14:67563985..67564899-chr8:19302890..19303432,2 | MCF-7 | breast: | |
5 | chr14:67091167..67092058-chr14:67129135..67130325,3 | MCF-7 | breast: | |
6 | chr1:203830542..203831291-chr14:66974502..66975449,2 | Hela-S3 | cervix: | |
7 | chr14:67444463..67446896-chr14:67451565..67453172,2 | MCF-7 | breast: | |
8 | chr14:67070723..67074270-chr14:67075283..67078895,3 | MCF-7 | breast: | |
9 | chr14:66974791..66976543-chr14:66986687..66988455,2 | MCF-7 | breast: | |
10 | chr14:66951555..66953537-chr14:66974010..66975700,2 | MCF-7 | breast: | |
11 | chr14:66958930..66964157-chr14:66971787..66977680,8 | K562 | blood: | |
12 | chr14:67456859..67458700-chr14:67459610..67461852,2 | MCF-7 | breast: | |
13 | chr14:67145360..67148245-chr14:67155765..67157650,2 | MCF-7 | breast: | |
14 | chr14:66869840..66870579-chr14:67035035..67035552,2 | MCF-7 | breast: | |
15 | chr14:67412874..67415398-chr14:67415571..67417462,2 | MCF-7 | breast: | |
16 | chr14:66916774..66918358-chr14:67561566..67563280,2 | K562 | blood: | |
17 | chr14:67578753..67580721-chr14:67589575..67592269,2 | MCF-7 | breast: | |
18 | chr14:67486765..67488657-chr14:67488979..67491560,2 | K562 | blood: | |
19 | chr14:67040072..67042253-chr14:67043564..67045326,2 | MCF-7 | breast: | |
20 | chr14:67477930..67479660-chr14:67487049..67490010,2 | K562 | blood: | |
21 | chr14:66929301..66930920-chr14:66959278..66961001,2 | K562 | blood: | |
22 | chr1:110880883..110881383-chr14:66973830..66974553,2 | Hela-S3 | cervix: | |
23 | chr14:66974018..66977412-chr14:66988835..66991120,3 | MCF-7 | breast: | |
24 | chr14:66867855..66868382-chr14:67076673..67077298,2 | MCF-7 | breast: | |
25 | chr1:111745353..111747736-chr14:66972613..66974748,2 | MCF-7 | breast: | |
26 | chr14:67551962..67554191-chr14:67556025..67558378,2 | K562 | blood: | |
27 | chr14:67389635..67391462-chr14:67394808..67396781,2 | MCF-7 | breast: | |
28 | chr14:67091099..67091710-chr14:67212729..67213799,3 | MCF-7 | breast: | |
29 | chr14:66962226..66964678-chr14:66974039..66976474,4 | MCF-7 | breast: | |
30 | chr14:67406512..67408916-chr14:67410508..67412779,2 | MCF-7 | breast: | |
31 | chr14:67584395..67586994-chr14:67589283..67591290,2 | K562 | blood: | |
32 | chr14:67440552..67442279-chr14:67447848..67450195,2 | K562 | blood: | |
33 | chr14:67441668..67442528-chr16:8599431..8600259,2 | NB4 | blood: | |
34 | chr14:66903059..66904771-chr14:66907431..66909809,2 | MCF-7 | breast: | |
35 | chr14:67371739..67373252-chr14:67382189..67384942,2 | MCF-7 | breast: | |
36 | chr14:66967687..66969685-chr14:66973710..66975449,2 | K562 | blood: | |
37 | chr14:66962226..66964678-chr14:66974039..66976474,4 | MCF-7 | breast: | |
38 | chr14:67297492..67297992-chr6:10786994..10787529,2 | MCF-7 | breast: | |
39 | chr14:66951555..66953537-chr14:66974010..66975700,2 | MCF-7 | breast: | |
40 | chr14:67090630..67091537-chr14:67128804..67129400,2 | MCF-7 | breast: | |
41 | chr14:67448510..67450063-chr14:67450561..67453014,2 | MCF-7 | breast: | |
42 | chr14:66866554..66868099-chr14:66868924..66870694,2 | MCF-7 | breast: | |
43 | chr14:66831468..66833127-chr14:67617476..67620347,2 | MCF-7 | breast: | |
44 | chr14:66825773..66826732-chr14:66861672..66862671,3 | MCF-7 | breast: | |
45 | chr14:66962423..66964673-chr14:66967447..66970511,3 | MCF-7 | breast: | |
46 | chr14:66916774..66918358-chr14:67561566..67563280,2 | K562 | blood: | |
47 | chr14:67031416..67034033-chr14:67041598..67043348,2 | MCF-7 | breast: | |
48 | chr14:67154703..67157341-chr14:67158405..67161202,2 | MCF-7 | breast: | |
49 | chr14:66974629..66976267-chr14:67206447..67208432,2 | MCF-7 | breast: | |
50 | chr14:66974814..66975547-chr17:56736243..56736922,2 | MCF-7 | breast: |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-CTD-2014B16.3.1-1 | chr14:66908663-66908837 | XLOC_011056 |
2 | lnc-GPHN-1 | chr14:66957460-66957537 | NONHSAT037423 |
3 | lnc-GPHN-1 | chr14:66958771-66958912 | ENSG00000196553 |
4 | lnc-GPHN-1 | chr14:66965071-66965118 | ENSG00000196553 |
5 | lnc-CTD-2014B16.3.1-1 | chr14:66926483-66927208 | XLOC_011056 |
6 | lnc-GPHN-1 | chr14:66957460-66957537 | ENSG00000196553 |
7 | lnc-CTD-2014B16.3.1-1 | chr14:66912788-66912979 | XLOC_011056 |
8 | lnc-GPHN-1 | chr14:66953072-66953270 | ENSG00000196553 |
9 | lnc-GPHN-1 | chr14:66957460-66957537 | ENSG00000196553 |
10 | lnc-GPHN-1 | chr14:66953109-66953270 | NR_024339 |
11 | lnc-CTD-2014B16.3.1-2 | chr14:66975792-66976112 | ENSG00000258561 |
12 | lnc-GPHN-1 | chr14:66963545-66963585 | ENSG00000196553 |
13 | lnc-GPHN-1 | chr14:66958771-66958912 | ENSG00000196553 |
14 | lnc-GPHN-1 | chr14:66965071-66965265 | NONHSAT037423 |
15 | lnc-FAM71D-3 | chr14:67227250-67227736 | NONHSAT037427 |
16 | lnc-CTD-2014B16.3.1-1 | chr14:66908663-66908837 | XLOC_011056 |
17 | lnc-GPHN-1 | chr14:66954878-66954974 | ENSG00000196553 |
18 | lnc-GPHN-1 | chr14:66957461-66957592 | NONHSAT037420 |
19 | lnc-GPHN-1 | chr14:66958344-66958403 | ENSG00000196553 |
20 | lnc-GPHN-1 | chr14:66955705-66955755 | ENSG00000196553 |
21 | lnc-GPHN-1 | chr14:66963545-66963585 | NR_024339 |
22 | lnc-GPHN-1 | chr14:66953125-66953270 | ENSG00000196553 |
23 | lnc-GPHN-1 | chr14:66957460-66957537 | NR_024338 |
24 | lnc-GPHN-1 | chr14:66953086-66953270 | NONHSAT037420 |
25 | lnc-GPHN-1 | chr14:66955705-66955755 | ENSG00000196553 |
26 | lnc-GPHN-1 | chr14:66959530-66959618 | NR_024338 |
27 | lnc-GPHN-1 | chr14:66957460-66957537 | ENSG00000196553 |
28 | lnc-GPHN-1 | chr14:66953533-66953556 | NONHSAT037423 |
29 | lnc-GPHN-1 | chr14:66963401-66963585 | ENSG00000196553 |
30 | lnc-CTD-2014B16.3.1-2 | chr14:66962980-66963043 | ENSG00000258561 |
31 | lnc-GPHN-3 | chr14:66855024-66855098 | NONHSAT037416 |
32 | lnc-GPHN-1 | chr14:66953375-66953527 | ENSG00000196553 |
33 | lnc-GPHN-1 | chr14:66958325-66958403 | ENSG00000196553 |
34 | lnc-GPHN-1 | chr14:66958344-66958403 | NR_110307 |
35 | lnc-GPHN-1 | chr14:66963545-66963585 | NR_024338 |
36 | lnc-GPHN-1 | chr14:66958344-66958403 | ENSG00000196553 |
37 | lnc-GPHN-1 | chr14:66958771-66958912 | NR_024338 |
38 | lnc-GPHN-1 | chr14:66958344-66958403 | NR_024339 |
39 | lnc-ATP6V1D-5 | chr14:67187470-67188083 | predAs_ge08_ARG2_2 |
40 | lnc-GPHN-1 | chr14:66954878-66954974 | ENSG00000196553 |
41 | lnc-GPHN-1 | chr14:66957460-66957537 | NR_110307 |
42 | lnc-GPHN-1 | chr14:66954878-66954974 | NR_110307 |
43 | lnc-GPHN-1 | chr14:66958771-66958912 | ENSG00000196553 |
44 | lnc-GPHN-1 | chr14:66965071-66965270 | ENSG00000196553 |
45 | lnc-GPHN-1 | chr14:66955705-66955755 | NR_110307 |
46 | lnc-GPHN-1 | chr14:66965071-66965271 | ENSG00000196553 |
47 | lnc-GPHN-1 | chr14:66958325-66958403 | ENSG00000196553 |
48 | lnc-GPHN-1 | chr14:66955705-66955755 | NR_024339 |
49 | lnc-GPHN-1 | chr14:66964827-66964885 | NONHSAT037423 |
50 | lnc-CTD-2014B16.3.1-1 | chr14:66912788-66912853 | XLOC_011056 |
No data |
No data |
Variant related genes | Relation type |
---|---|
LINC00238 | TF binding region |
ENSG00000258490 | TF binding region |
GPHN | TF binding region |
ENSG00000258561 | TF binding region |
ENSG00000258796 | TF binding region |
LINC00238 | CpG island |
ENSG00000258490 | CpG island |
GPHN | CpG island |
ENSG00000258561 | CpG island |
ENSG00000258796 | CpG island |
ENSG00000258490 | chromatin interactions |
ENSG00000202077 | chromatin interactions |
ENSG00000099331 | chromatin interactions |
ENSG00000258561 | chromatin interactions |
ENSG00000184661 | chromatin interactions |
ENSG00000171858 | chromatin interactions |
ENSG00000162775 | chromatin interactions |
ENSG00000131351 | chromatin interactions |
ENSG00000196553 | chromatin interactions |
ENSG00000171723 | chromatin interactions |
ENSG00000182004 | chromatin interactions |
ENSG00000162777 | chromatin interactions |
ENSG00000189120 | chromatin interactions |
ENSG00000120875 | chromatin interactions |
ENSG00000124155 | chromatin interactions |
ABCA1 | miRNA target sites |
CDC34 | miRNA target sites |
CDC37L1 | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs11851735 | chr14:66851185-66851186 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs191917857 | chr14:66851214-66851215 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs545007554 | chr14:66851273-66851274 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs35661100 | chr14:66851282-66851283 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs113136083 | chr14:66851401-66851402 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs8020024 | chr14:66851422-66851423 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
7 | rs368463649 | chr14:66851428-66851429 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs140449454 | chr14:66851429-66851430 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs562898772 | chr14:66851519-66851520 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs575765220 | chr14:66851541-66851542 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs74365705 | chr14:66851570-66851571 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs74516983 | chr14:66851575-66851576 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs370617619 | chr14:66851596-66851597 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs574934090 | chr14:66851599-66851600 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs58317164 | chr14:66851670-66851671 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
16 | rs549828253 | chr14:66851767-66851768 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs182651878 | chr14:66851793-66851794 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs147354555 | chr14:66851797-66851798 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs201045235 | chr14:66851823-66851824 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs12050456 | chr14:66851873-66851874 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
21 | rs542310168 | chr14:66851914-66851915 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs148393247 | chr14:66851929-66851930 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs112640150 | chr14:66851944-66851945 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs543220528 | chr14:66851957-66851958 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs553986149 | chr14:66851976-66851977 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs142468058 | chr14:66852029-66852030 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs367702419 | chr14:66852080-66852081 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs371471377 | chr14:66852126-66852127 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs192606574 | chr14:66852156-66852157 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs372641231 | chr14:66852186-66852187 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs560677430 | chr14:66852199-66852200 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs545355194 | chr14:66852216-66852217 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs184531721 | chr14:66852271-66852272 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs572413020 | chr14:66852492-66852493 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs10142124 | chr14:66852506-66852507 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
36 | rs561096795 | chr14:66852525-66852526 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs10142375 | chr14:66852545-66852546 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
38 | rs549627102 | chr14:66852583-66852584 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs527283431 | chr14:66852668-66852669 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs563367967 | chr14:66852701-66852702 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs375098550 | chr14:66852762-66852763 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs547712330 | chr14:66852765-66852766 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs552110691 | chr14:66852777-66852778 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs538567238 | chr14:66852782-66852783 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs565327349 | chr14:66852798-66852799 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs534266706 | chr14:66852814-66852815 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs547661274 | chr14:66852850-66852851 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs189004202 | chr14:66852870-66852871 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs536819108 | chr14:66852872-66852873 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs564951950 | chr14:66852874-66852875 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
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 |
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 |
Neuroblastoma | 19435921 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Breast cancer | 17899364 | 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 |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Chronic myeloid leukemia | 20724749 | CNVD |
Wilms tumour | 21544195 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 21858162 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Lung cancer | 18438408 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Breast cancer | 22032731 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Breast cancer | 17603634 | CNVD |
Splenic marginal zone lymphoma | 18492102 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Barrett''s syndrome | 19417022 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Breast cancer | 21364760 | CNVD |
Breast cancer | 17133270 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Cancer | 20164920 | CNVD |
Cancer | 17440070 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
Lung cancer | 20668451 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
cataract | 16735990 | CNVD |
Neuroblastoma | 20406844 | CNVD |
Autism | 22495309 | CNVD |
Breast cancer | 21611746 | CNVD |
Cancer | 20164919 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr14:66846800-66855400 | Weak transcription | Esophagus | oesophagus |
2 | chr14:66849400-66851600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
3 | chr14:66850000-66851200 | Enhancers | HUES64 Cell Line | embryonic stem cell |
4 | chr14:66850600-66852000 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
5 | chr14:66850600-66861800 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
6 | chr14:66850800-66851200 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
7 | chr14:66851000-66852200 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
8 | chr14:66851200-66851600 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
9 | chr14:66852200-66852400 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
10 | chr14:66852200-66853000 | Enhancers | Cortex derived primary cultured neurospheres | brain |
11 | chr14:66855400-66855600 | Enhancers | Esophagus | oesophagus |
12 | chr14:66855800-66856000 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
13 | chr14:66856800-66857200 | Enhancers | GM12878-XiMat | blood |
14 | chr14:66857200-66861200 | Weak transcription | GM12878-XiMat | blood |
15 | chr14:66860000-66860200 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
16 | chr14:66860200-66866600 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
17 | chr14:66861200-66862800 | Enhancers | GM12878-XiMat | blood |
18 | chr14:66861800-66862600 | Enhancers | Primary T cells from cord blood | blood |
19 | chr14:66861800-66862600 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
20 | chr14:66861800-66862600 | Enhancers | Ganglion Eminence derived primary cultured neurospheres | brain |
21 | chr14:66862000-66862400 | Enhancers | Primary T helper cells PMA-I stimulated | -- |
22 | chr14:66862000-66862400 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
23 | chr14:66862000-66862600 | Enhancers | Primary T helper naive cells from peripheral blood | blood |
24 | chr14:66862200-66862600 | Enhancers | Primary T killer naive cells fromperipheralblood | blood |
25 | chr14:66862600-66871000 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
26 | chr14:66862800-66865000 | Weak transcription | GM12878-XiMat | blood |
27 | chr14:66865000-66865200 | Enhancers | Fetal Heart | heart |
28 | chr14:66865000-66865600 | Enhancers | Pancreatic Islets | Pancreatic Islet |
29 | chr14:66865000-66866000 | Enhancers | GM12878-XiMat | blood |
30 | chr14:66865000-66868800 | Weak transcription | Psoas Muscle | Psoas |
31 | chr14:66866000-66869600 | Weak transcription | GM12878-XiMat | blood |
32 | chr14:66866200-66867000 | Enhancers | Aorta | Aorta |
33 | chr14:66866600-66868800 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
34 | chr14:66866600-66870000 | Enhancers | Liver | Liver |
35 | chr14:66868000-66869600 | Enhancers | Fetal Brain Female | brain |
36 | chr14:66868200-66869000 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
37 | chr14:66868200-66869000 | Enhancers | Fetal Brain Male | brain |
38 | chr14:66868400-66869200 | Enhancers | Muscle Satellite Cultured Cells | -- |
39 | chr14:66868400-66870000 | Enhancers | HUVEC | blood vessel |
40 | chr14:66868600-66868800 | Enhancers | Primary hematopoietic stem cells | blood |
41 | chr14:66868800-66869000 | Enhancers | Aorta | Aorta |
42 | chr14:66868800-66869000 | Enhancers | Psoas Muscle | Psoas |
43 | chr14:66868800-66869800 | Weak transcription | Primary hematopoietic stem cells | blood |
44 | chr14:66868800-66870400 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
45 | chr14:66869400-66869800 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
46 | chr14:66869400-66870000 | Enhancers | Primary T cells from cord blood | blood |
47 | chr14:66869600-66870000 | Enhancers | GM12878-XiMat | blood |
48 | chr14:66869600-66870200 | Enhancers | Primary T helper naive cells fromperipheralblood | blood |
49 | chr14:66869600-66870200 | Enhancers | Primary T helper memory cells from peripheral blood 1 | blood |
50 | chr14:66869600-66870200 | Enhancers | Primary T killer naive cells fromperipheralblood | blood |