Variant report
Variant | nsv530723 |
---|---|
Chromosome Location | chr13:66219650-67200316 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:3882)
- CpG islands (count:1098)
- Chromatin interactive region (count:59)
- LncRNA region (count:24)
- Mature miRNA region (count: 3)
- miRNA target sites (count:3)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | ARID3A | chr13:67142089-67142310 | K562 | blood: | n/a | n/a |
2 | ARID3A | chr13:66886857-66887028 | HepG2 | liver: | n/a | n/a |
3 | ARID3A | chr13:67192956-67193156 | K562 | blood: | n/a | n/a |
4 | ARID3A | chr13:66643768-66644097 | K562 | blood: | n/a | n/a |
5 | ARID3A | chr13:66651230-66651680 | K562 | blood: | n/a | n/a |
6 | ARID3A | chr13:66713473-66713809 | HepG2 | liver: | n/a | n/a |
7 | ARID3A | chr13:66650602-66650906 | K562 | blood: | n/a | n/a |
8 | ARID3A | chr13:67024589-67024601 | K562 | blood: | n/a | n/a |
9 | ARID3A | chr13:66784968-66784973 | HepG2 | liver: | n/a | n/a |
10 | ARID3A | chr13:66648258-66648447 | K562 | blood: | n/a | n/a |
11 | ATF1 | chr13:66643737-66644023 | K562 | blood: | n/a | n/a |
12 | ATF1 | chr13:66999986-67000196 | K562 | blood: | n/a | n/a |
13 | ATF1 | chr13:66648256-66648525 | K562 | blood: | n/a | n/a |
14 | ATF1 | chr13:66990708-66990955 | K562 | blood: | n/a | n/a |
15 | ATF1 | chr13:66650593-66650896 | K562 | blood: | n/a | n/a |
16 | ATF2 | chr13:66798630-66799137 | H1-hESC | embryonic stem cell: | n/a | n/a |
17 | ATF2 | chr13:66712423-66712799 | GM12878 | blood: | n/a | n/a |
18 | ATF3 | chr13:66886740-66887227 | A549 | lung: | n/a | n/a |
19 | BACH1 | chr13:67132673-67133003 | H1-hESC | embryonic stem cell: | n/a | n/a |
20 | BACH1 | chr13:67078100-67078397 | H1-hESC | embryonic stem cell: | n/a | chr13:67078231-67078245 |
21 | BATF | chr13:66702801-66703238 | GM12878 | blood: | n/a | n/a |
22 | BATF | chr13:67081195-67081436 | GM12878 | blood: | n/a | n/a |
23 | BATF | chr13:66712465-66712951 | GM12878 | blood: | n/a | n/a |
24 | BATF | chr13:67052441-67052616 | GM12878 | blood: | n/a | n/a |
25 | BATF | chr13:66712420-66712936 | GM12878 | blood: | n/a | n/a |
26 | BCL11A | chr13:66712457-66712949 | GM12878 | blood: | n/a | chr13:66712844-66712853 |
27 | BCL11A | chr13:66798756-66799093 | H1-hESC | embryonic stem cell: | n/a | n/a |
28 | BCL11A | chr13:66702751-66703109 | GM12878 | blood: | n/a | n/a |
29 | BCL11A | chr13:66712423-66713013 | GM12878 | blood: | n/a | chr13:66712844-66712853 |
30 | BCL11A | chr13:66798709-66799125 | H1-hESC | embryonic stem cell: | n/a | n/a |
31 | BCL11A | chr13:67159926-67160259 | GM12878 | blood: | n/a | n/a |
32 | BCL11A | chr13:66702875-66703088 | GM12878 | blood: | n/a | n/a |
33 | BCL3 | chr13:66886608-66887994 | A549 | lung: | n/a | n/a |
34 | BCL3 | chr13:66886752-66887345 | A549 | lung: | n/a | n/a |
35 | BCLAF1 | chr13:66712465-66712857 | GM12878 | blood: | n/a | chr13:66712844-66712853 |
36 | BHLHE40 | chr13:66712457-66712998 | GM12878 | blood: | n/a | n/a |
37 | BHLHE40 | chr13:66648396-66648557 | K562 | blood: | n/a | n/a |
38 | BHLHE40 | chr13:66902776-66902779 | K562 | blood: | n/a | n/a |
39 | BHLHE40 | chr13:66739043-66739104 | K562 | blood: | n/a | n/a |
40 | BHLHE40 | chr13:66917482-66917943 | K562 | blood: | n/a | n/a |
41 | BRCA1 | chr13:66878245-66878246 | Hela-S3 | cervix: | n/a | n/a |
42 | BRCA1 | chr13:67088395-67088424 | H1-hESC | embryonic stem cell: | n/a | n/a |
43 | BRCA1 | chr13:66712793-66712993 | GM12878 | blood: | n/a | n/a |
44 | CBX3 | chr13:66784784-66785224 | HCT-116 | colon: | n/a | n/a |
45 | CBX3 | chr13:67137257-67137558 | K562 | blood: | n/a | n/a |
46 | CBX3 | chr13:66643667-66644035 | K562 | blood: | n/a | n/a |
47 | CBX3 | chr13:66861033-66861253 | K562 | blood: | n/a | n/a |
48 | CBX3 | chr13:66784811-66785347 | HCT-116 | colon: | n/a | n/a |
49 | CCNT2 | chr13:66589547-66589747 | K562 | blood: | n/a | n/a |
50 | CCNT2 | chr13:66617039-66617239 | K562 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr13:66929165-66929215 | PFSK-1 | brain: | n/a |
2 | chr13:66983676-66983726 | AG04449 | skin: | fetal |
3 | chr13:66981290-66981340 | MCF-7 | breast: | n/a |
4 | chr13:66983730-66983780 | H1-hESC | embryonic stem cell: | embryo |
5 | chr13:67197133-67197183 | SKMC | muscle: | n/a |
6 | chr13:67155091-67155141 | ECC-1 | luminal epithelium: | n/a |
7 | chr13:66981290-66981340 | HCT-116 | colon: | n/a |
8 | chr13:66583583-66583633 | MCF-7 | breast: | n/a |
9 | chr13:66607275-66607325 | AG09309 | skin: | n/a |
10 | chr13:66607275-66607325 | PrEC | prostate: | n/a |
11 | chr13:66919912-66919962 | GM06990 | blood: | n/a |
12 | chr13:67196386-67196436 | AG04449 | skin: | fetal |
13 | chr13:66322551-66322601 | Caco-2 | colon: | n/a |
14 | chr13:66929165-66929215 | IMR90 | lung: | fetal |
15 | chr13:66878738-66878788 | GM06990 | blood: | n/a |
16 | chr13:66583583-66583633 | NT2-D1 | testis: | n/a |
17 | chr13:66607275-66607325 | AG10803 | skin: | n/a |
18 | chr13:66322551-66322601 | GM19239 | blood: | n/a |
19 | chr13:66983676-66983726 | MCF-7 | breast: | n/a |
20 | chr13:67197277-67197327 | Caco-2 | colon: | n/a |
21 | chr13:67197277-67197327 | PrEC | prostate: | n/a |
22 | chr13:66929165-66929215 | AoSMC | blood vessel: | n/a |
23 | chr13:66878738-66878788 | HL-60 | blood: | n/a |
24 | chr13:66878738-66878788 | NT2-D1 | testis: | n/a |
25 | chr13:66983730-66983780 | PrEC | prostate: | n/a |
26 | chr13:66583686-66583736 | GM19239 | blood: | n/a |
27 | chr13:66583583-66583633 | HNPCEpiC | eye: | n/a |
28 | chr13:67197277-67197327 | LNCaP | prostate: | n/a |
29 | chr13:66878738-66878788 | MCF-7 | breast: | n/a |
30 | chr13:66252177-66252227 | CMK | blood: | n/a |
31 | chr13:66252177-66252227 | GM12878 | blood: | n/a |
32 | chr13:66983676-66983726 | SK-N-SH | brain: | n/a |
33 | chr13:66607275-66607325 | NB4 | blood: | n/a |
34 | chr13:66919912-66919962 | NB4 | blood: | n/a |
35 | chr13:66583583-66583633 | HEEpiC | esophagus: | n/a |
36 | chr13:66919912-66919962 | HIPEpiC | eye: | n/a |
37 | chr13:66919912-66919962 | MCF10A-Er-Src | breast: | n/a |
38 | chr13:66607275-66607325 | ECC-1 | luminal epithelium: | n/a |
39 | chr13:66583686-66583736 | IMR90 | lung: | fetal |
40 | chr13:66322551-66322601 | SK-N-SH | brain: | n/a |
41 | chr13:66252177-66252227 | K562 | blood: | n/a |
42 | chr13:67101887-67101937 | NHBE | bronchial: | n/a |
43 | chr13:66983730-66983780 | HL-60 | blood: | n/a |
44 | chr13:66929165-66929215 | Jurkat | blood: | n/a |
45 | chr13:66583583-66583633 | HIPEpiC | eye: | n/a |
46 | chr13:66583686-66583736 | HL-60 | blood: | n/a |
47 | chr13:66929165-66929215 | CMK | blood: | n/a |
48 | chr13:67197173-67197223 | SK-N-SH | brain: | n/a |
49 | chr13:66983676-66983726 | SK-N-SH_RA | brain: | n/a |
50 | chr13:66322551-66322601 | K562 | blood: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr13:66206471..66208391-chr13:66217892..66220664,2 | K562 | blood: | |
2 | chr13:66423397..66425712-chr13:66435469..66437961,2 | K562 | blood: | |
3 | chr13:66296680..66298971-chr13:66300615..66302352,2 | MCF-7 | breast: | |
4 | chr13:67130453..67132993-chr13:67135238..67136917,2 | K562 | blood: | |
5 | chr12:28240626..28241152-chr13:66662383..66662898,2 | MCF-7 | breast: | |
6 | chr13:66901663..66903255-chr13:66906195..66907818,2 | K562 | blood: | |
7 | chr13:67109100..67110769-chr13:67114510..67116820,2 | K562 | blood: | |
8 | chr13:66978910..66981496-chr13:66983194..66984802,2 | K562 | blood: | |
9 | chr13:66782802..66785217-chr13:66787154..66788780,2 | MCF-7 | breast: | |
10 | chr13:67124095..67126180-chr13:67127910..67129667,2 | K562 | blood: | |
11 | chr13:66363582..66364363-chr21:32786060..32786817,2 | MCF-7 | breast: | |
12 | chr13:66423397..66425712-chr13:66435469..66437961,2 | K562 | blood: | |
13 | chr10:29694023..29695542-chr13:67026635..67028155,2 | MCF-7 | breast: | |
14 | chr13:67157975..67159957-chr13:67162075..67164465,2 | K562 | blood: | |
15 | chr13:66918574..66921439-chr13:66945401..66948264,2 | MCF-7 | breast: | |
16 | chr13:66230680..66231446-chr13:66540896..66541772,3 | MCF-7 | breast: | |
17 | chr13:67065181..67066891-chr13:67075366..67077021,2 | MCF-7 | breast: | |
18 | chr13:66296680..66298971-chr13:66300615..66302352,2 | MCF-7 | breast: | |
19 | chr13:66622814..66624893-chr13:66627297..66630041,2 | K562 | blood: | |
20 | chr13:67157975..67159957-chr13:67162075..67164465,2 | K562 | blood: | |
21 | chr13:66606276..66609107-chr13:66609295..66610970,2 | MCF-7 | breast: | |
22 | chr13:67130437..67132993-chr13:67135417..67138774,3 | K562 | blood: | |
23 | chr13:66725373..66727381-chr13:66728791..66730521,2 | K562 | blood: | |
24 | chr13:66377468..66378968-chr8:43092929..43094908,2 | MCF-7 | breast: | |
25 | chr13:66909684..66911530-chr13:66916300..66919201,2 | K562 | blood: | |
26 | chr13:67065181..67066891-chr13:67075366..67077021,2 | MCF-7 | breast: | |
27 | chr13:67118715..67120725-chr13:67121848..67124669,2 | K562 | blood: | |
28 | chr13:67109100..67110769-chr13:67114510..67116820,2 | K562 | blood: | |
29 | chr13:66557440..66557967-chr13:82054818..82055319,2 | MCF-7 | breast: | |
30 | chr13:66909684..66911530-chr13:66916300..66919201,2 | K562 | blood: | |
31 | chr13:66606276..66609107-chr13:66609295..66610970,2 | MCF-7 | breast: | |
32 | chr13:66500564..66501578-chr13:66540848..66541721,3 | MCF-7 | breast: | |
33 | chr13:67027655..67028155-chr8:43092779..43093429,2 | MCF-7 | breast: | |
34 | chr13:67066396..67067204-chr13:67263202..67263856,3 | MCF-7 | breast: | |
35 | chr13:66879908..66881972-chr13:66902872..66904425,2 | K562 | blood: | |
36 | chr13:67130453..67132993-chr13:67135238..67136917,2 | K562 | blood: | |
37 | chr13:66879908..66881972-chr13:66902872..66904425,2 | K562 | blood: | |
38 | chr13:66677587..66680337-chr13:66682446..66685267,2 | K562 | blood: | |
39 | chr13:66782802..66785217-chr13:66787154..66788780,2 | MCF-7 | breast: | |
40 | chr13:66824109..66824810-chr16:71735977..71736631,2 | MCF-7 | breast: | |
41 | chr13:66677587..66680337-chr13:66682446..66685267,2 | K562 | blood: | |
42 | chr13:67194212..67196284-chr13:67201796..67203435,2 | MCF-7 | breast: | |
43 | chr13:66500564..66501578-chr13:66540848..66541721,3 | MCF-7 | breast: | |
44 | chr13:66358245..66360880-chr16:71346372..71347872,2 | MCF-7 | breast: | |
45 | chr13:66355137..66357196-chr13:66362374..66364366,2 | K562 | blood: | |
46 | chr13:67090368..67092830-chr13:67094169..67095769,2 | K562 | blood: | |
47 | chr13:67090368..67092830-chr13:67094169..67095769,2 | K562 | blood: | |
48 | chr13:67118715..67120725-chr13:67121848..67124669,2 | K562 | blood: | |
49 | chr13:66582815..66585533-chr13:66632919..66634778,2 | K562 | blood: | |
50 | chr13:66582815..66585533-chr13:66632919..66634778,2 | K562 | blood: |
(count:24 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-AL445989.1-26 | chr13:66844520-66844603 | NONHSAT034208 |
2 | lnc-AL445989.1-8 | chr13:66449839-66449901 | ENSG00000234767 |
3 | lnc-PCDH9-1 | chr13:66718649-66718753 | ENSG00000250631 |
4 | lnc-PCDH9-1 | chr13:66715500-66715905 | ENSG00000250631 |
5 | lnc-AL445989.1-8 | chr13:66451989-66452351 | NONHSAT034197 |
6 | lnc-AL445989.1-11 | chr13:66569993-66570140 | XLOC_010416 |
7 | lnc-AL445989.1-26 | chr13:66843129-66844590 | NONHSAT034207 |
8 | lnc-AL445989.1-8 | chr13:66440195-66440400 | NONHSAT034197 |
9 | lnc-PCDH9-6 | chr13:66430425-66430559 | NONHSAT034195 |
10 | lnc-AL445989.1-8 | chr13:66451989-66452351 | ENSG00000234767 |
11 | lnc-AL445989.1-26 | chr13:66851684-66852109 | NONHSAT034208 |
12 | lnc-PCDH9-6 | chr13:66410063-66410464 | NONHSAT034195 |
13 | lnc-AL445989.1-13 | chr13:66897306-66897693 | ENSG00000234527.1 |
14 | lnc-AL445989.1-10 | chr13:66546596-66551943 | XLOC_010415 |
15 | lnc-AL445989.1-9 | chr13:66503637-66503853 | XLOC_010414 |
16 | lnc-AL445989.1-9 | chr13:66510419-66510480 | XLOC_010414 |
17 | lnc-AL445989.1-8 | chr13:66440306-66440375 | ENSG00000234767 |
18 | lnc-AL445989.1-10 | chr13:66515195-66515334 | XLOC_010415 |
19 | lnc-AL445989.1-13 | chr13:66878003-66878146 | ENSG00000234527.1 |
20 | lnc-AL445989.1-11 | chr13:66569686-66569896 | XLOC_010416 |
21 | lnc-AL445989.1-26 | chr13:66846998-66847098 | NONHSAT034208 |
22 | lnc-AL445989.1-8 | chr13:66449839-66449901 | NONHSAT034197 |
23 | lnc-AL445989.1-11 | chr13:66628093-66628119 | XLOC_010416 |
24 | lnc-PCDH9-1 | chr13:66805874-66806206 | ENSG00000250631 |
miRNA name | Chromosome Location | mirBase accession |
---|---|---|
hsa-miR-4704-3p | chr13:66792428-66792449 | MIMAT0019804 |
hsa-miR-548x-3p | chr13:66540484-66540503 | MIMAT0015081 |
hsa-miR-4704-5p | chr13:66792391-66792412 | MIMAT0019803 |
(count:3 , 50 per page) page:
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No. | miRNA target gene | miRNA name | Chromosome Location | mirBase accession |
---|---|---|---|---|
1 | PCDH9 | hsa-miR-155-5p | chr13:66877756-66877779 | |
2 | PCDH9 | hsa-miR-155-5p | chr13:66878327-66878320 | |
3 | PCDH9 | hsa-miR-155-5p | chr13:66878321-66878343 |
Variant related genes | Relation type |
---|---|
MIR4704 | TF binding region |
TRIM60P19 | TF binding region |
PCDH9-AS1 | TF binding region |
LINC01052 | TF binding region |
MIR548X2 | TF binding region |
HNRNPA3P5 | TF binding region |
ENSG00000221685 | TF binding region |
MIR4704 | CpG island |
TRIM60P19 | CpG island |
PCDH9-AS1 | CpG island |
LINC01052 | CpG island |
MIR548X2 | CpG island |
HNRNPA3P5 | CpG island |
ENSG00000221685 | CpG island |
ENSG00000236565 | chromatin interactions |
INO80D | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs148087052 | chr13:66221209-66221210 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs184927971 | chr13:66221271-66221272 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs558416131 | chr13:66221279-66221280 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs578192546 | chr13:66221280-66221281 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs141818609 | chr13:66221318-66221319 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs570276684 | chr13:66221342-66221343 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs557292313 | chr13:66221350-66221351 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs575699644 | chr13:66221399-66221400 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs537709368 | chr13:66221429-66221430 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs541510742 | chr13:66221448-66221449 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs561476264 | chr13:66221449-66221450 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs571708123 | chr13:66221475-66221476 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs540711822 | chr13:66221494-66221495 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs564365419 | chr13:66221515-66221516 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs533080835 | chr13:66221522-66221523 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs75984975 | chr13:66221560-66221561 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs563456501 | chr13:66221569-66221570 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs73195807 | chr13:66227450-66227451 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
19 | rs571616101 | chr13:66227460-66227461 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs537200469 | chr13:66227467-66227468 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs557154740 | chr13:66227471-66227472 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs1340370 | chr13:66227485-66227486 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs184461096 | chr13:66227490-66227491 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs555470529 | chr13:66227507-66227508 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs545999980 | chr13:66227542-66227543 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs376624708 | chr13:66227543-66227544 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs571946389 | chr13:66227573-66227574 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs541064019 | chr13:66227594-66227595 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs186931030 | chr13:66227612-66227613 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs578013609 | chr13:66227623-66227624 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs543605582 | chr13:66227692-66227693 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs74942076 | chr13:66227729-66227730 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs529125883 | chr13:66227746-66227747 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs542751026 | chr13:66227772-66227773 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs1340369 | chr13:66227813-66227814 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs559838200 | chr13:66227821-66227822 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs528433342 | chr13:66227857-66227858 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs141240895 | chr13:66227859-66227860 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs571581282 | chr13:66227878-66227879 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs531126785 | chr13:66227973-66227974 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs550896392 | chr13:66227981-66227982 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs542771360 | chr13:66228024-66228025 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs567500022 | chr13:66228114-66228115 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs35944149 | chr13:66228141-66228142 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs561505323 | chr13:66228174-66228175 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs368157625 | chr13:66228181-66228182 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs548798183 | chr13:66228186-66228187 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs150751527 | chr13:66228217-66228218 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs534278477 | chr13:66228230-66228231 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs557800091 | chr13:66228251-66228252 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Prostate cancer | 16705090 | CNVD |
High-proliferative meningiomas | 17937814 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
Autism | 22495311 | CNVD |
Chordoma | 21602918 | CNVD |
Bladder cancer | 21949216 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Cancer | 21637783 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Chronic lymphocytic leukemia | 21518781 | CNVD |
colon cancer | 17210682 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Intracranial aneurysm | 19064780 | CNVD |
Breast cancer | 19287154 | CNVD |
Acute myeloid leukemia | 18379011 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Ependymoma | 16718352 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Colorectal cancer | 16272173 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Breast cancer | 16608533 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Breast cancer | 17133270 | CNVD |
Myoepithelioma | 18604193 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Prostate cancer | 16573809 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Paraganglioma | 21461997 | CNVD |
Pheochromocytoma | 21461997 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Prostate cancer | 17245344 | CNVD |
Prostate cancer | 18632612 | CNVD |
Colorectal cancer | 21586687 | CNVD |
Small bowel adenocarcinoma | 21586687 | CNVD |
Retinoblastoma | 19183342 | CNVD |
Developmental delay | 21147756 | CNVD |
Melanoma | 18172304 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Merkel cell carcinoma | 19020549 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Breast cancer | 21858162 | CNVD |
Glioblastoma multiforme | 21922591 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Gastric cancer | 17908304 | CNVD |
Glioblastoma multiforme | 21750150 | CNVD |
Breast cancer | 17603634 | CNVD |
Cancer | 21183584 | CNVD |
Breast cancer | 17393978 | CNVD |
Splenic marginal zone lymphoma | 18492102 | CNVD |
Liposarcoma | 21253554 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
abnormal development | 18461090 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Prostate cancer | 16461572 | CNVD |
Congenital anomalies of the kidney and urinary tract | 18316590 | CNVD |
Intellectual disability | 21811512 | CNVD |
Colorectal cancer | 21645411 | CNVD |
Melanoma | 20877625 | CNVD |
T-cell lymphomas | 22341440 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Bipolar disorder | 19114987 | CNVD |
Schizophrenia | 20967226 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Schizophrenia | 23813976 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Prostate cancer | 22341455 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Myelofibrosis | 22110671 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr13:66221200-66221600 | Enhancers | Fetal Brain Female | brain |
2 | chr13:66227400-66228200 | Enhancers | Fetal Brain Male | brain |
3 | chr13:66227600-66228000 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
4 | chr13:66227800-66228400 | Enhancers | Fetal Brain Female | brain |
5 | chr13:66231800-66232800 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
6 | chr13:66232000-66234000 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
7 | chr13:66232200-66232600 | Enhancers | Adipose Nuclei | Adipose |
8 | chr13:66244200-66245000 | ZNF genes & repeats | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
9 | chr13:66249600-66249800 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
10 | chr13:66251800-66252800 | Enhancers | Osteobl | bone |
11 | chr13:66252000-66252400 | Enhancers | HUES6 Cell Line | embryonic stem cell |
12 | chr13:66252000-66252400 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
13 | chr13:66252000-66252400 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
14 | chr13:66252000-66252600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
15 | chr13:66252000-66252600 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
16 | chr13:66252000-66252600 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
17 | chr13:66252200-66252600 | Enhancers | Hela-S3 | cervix |
18 | chr13:66252600-66253000 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
19 | chr13:66252800-66253200 | Weak transcription | Osteobl | bone |
20 | chr13:66253000-66253600 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
21 | chr13:66253200-66253800 | Enhancers | Osteobl | bone |
22 | chr13:66260600-66267000 | Weak transcription | Primary T helper memory cells from peripheral blood 1 | blood |
23 | chr13:66263200-66267000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
24 | chr13:66267000-66267200 | Active TSS | Primary T helper memory cells from peripheral blood 1 | blood |
25 | chr13:66267000-66267600 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
26 | chr13:66267000-66267600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
27 | chr13:66284600-66285200 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
28 | chr13:66298000-66298800 | Enhancers | Dnd41 | blood |
29 | chr13:66298200-66298600 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
30 | chr13:66298200-66298600 | Enhancers | Fetal Stomach | stomach |
31 | chr13:66298200-66298800 | Enhancers | Muscle Satellite Cultured Cells | -- |
32 | chr13:66298200-66298800 | Enhancers | Fetal Kidney | kidney |
33 | chr13:66298200-66298800 | Enhancers | NHDF-Ad | bronchial |
34 | chr13:66298200-66299400 | Enhancers | Fetal Lung | lung |
35 | chr13:66298200-66299800 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
36 | chr13:66298200-66300200 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
37 | chr13:66298800-66299200 | Weak transcription | Fetal Kidney | kidney |
38 | chr13:66299200-66299800 | Enhancers | Fetal Kidney | kidney |
39 | chr13:66299400-66299800 | Enhancers | Fetal Heart | heart |
40 | chr13:66307000-66307600 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
41 | chr13:66318200-66319600 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
42 | chr13:66318400-66318800 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
43 | chr13:66318400-66319600 | Enhancers | Osteobl | bone |
44 | chr13:66318800-66319000 | Flanking Active TSS | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
45 | chr13:66318800-66319400 | Enhancers | Adipose Nuclei | Adipose |
46 | chr13:66318800-66320600 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
47 | chr13:66319000-66319600 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
48 | chr13:66330600-66331400 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
49 | chr13:66336600-66337200 | Enhancers | Fetal Kidney | kidney |
50 | chr13:66342600-66343200 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |