Variant report
Variant | nsv611235 |
---|---|
Chromosome Location | chr8:47060977-47739851 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1874)
- CpG islands (count:3422)
- Chromatin interactive region (count:39)
- LncRNA region (count:8)
- 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 | chr8:47529231-47529761 | K562 | blood: | n/a | n/a |
2 | ATF1 | chr8:47548283-47548344 | K562 | blood: | n/a | n/a |
3 | ATF1 | chr8:47368426-47368796 | K562 | blood: | n/a | n/a |
4 | ATF1 | chr8:47551373-47551428 | K562 | blood: | n/a | n/a |
5 | ATF1 | chr8:47263663-47264034 | K562 | blood: | n/a | n/a |
6 | ATF3 | chr8:47529101-47529363 | K562 | blood: | n/a | n/a |
7 | BACH1 | chr8:47536608-47536724 | K562 | blood: | n/a | n/a |
8 | BATF | chr8:47738438-47738681 | GM12878 | blood: | n/a | chr8:47738534-47738545 |
9 | BHLHE40 | chr8:47424515-47424559 | GM12878 | blood: | n/a | n/a |
10 | BHLHE40 | chr8:47570504-47570636 | K562 | blood: | n/a | n/a |
11 | BHLHE40 | chr8:47528443-47529576 | K562 | blood: | n/a | chr8:47528874-47528890 chr8:47529336-47529352 |
12 | BHLHE40 | chr8:47484595-47485045 | K562 | blood: | n/a | n/a |
13 | BRCA1 | chr8:47213331-47213535 | GM12878 | blood: | n/a | n/a |
14 | BRCA1 | chr8:47128832-47128850 | HepG2 | liver: | n/a | n/a |
15 | CBX3 | chr8:47416966-47417169 | K562 | blood: | n/a | n/a |
16 | CBX3 | chr8:47529072-47529420 | K562 | blood: | n/a | n/a |
17 | CCNT2 | chr8:47432567-47432751 | K562 | blood: | n/a | n/a |
18 | CCNT2 | chr8:47528797-47529481 | K562 | blood: | n/a | n/a |
19 | CEBPB | chr8:47570103-47570239 | HepG2 | liver: | n/a | chr8:47570181-47570192 |
20 | CEBPB | chr8:47447545-47447780 | A549 | lung: | n/a | chr8:47447623-47447634 |
21 | CEBPB | chr8:47333483-47333514 | K562 | blood: | n/a | n/a |
22 | CEBPB | chr8:47534198-47534462 | K562 | blood: | n/a | n/a |
23 | CEBPB | chr8:47214532-47214751 | HepG2 | liver: | n/a | chr8:47214612-47214623 |
24 | CEBPB | chr8:47548637-47548787 | HepG2 | liver: | n/a | chr8:47548763-47548774 |
25 | CEBPB | chr8:47726143-47726477 | MCF-7 | breast: | n/a | n/a |
26 | CEBPB | chr8:47554880-47555156 | HepG2 | liver: | n/a | n/a |
27 | CEBPB | chr8:47368428-47368796 | H1-hESC | embryonic stem cell: | n/a | n/a |
28 | CEBPB | chr8:47678041-47678282 | HepG2 | liver: | n/a | chr8:47678131-47678142 |
29 | CEBPB | chr8:47363583-47363906 | IMR90 | lung: | n/a | chr8:47363750-47363761 |
30 | CEBPB | chr8:47214461-47214801 | IMR90 | lung: | n/a | chr8:47214612-47214623 |
31 | CEBPB | chr8:47534171-47534437 | A549 | lung: | n/a | n/a |
32 | CEBPB | chr8:47610035-47610215 | HepG2 | liver: | n/a | chr8:47610104-47610115 |
33 | CEBPB | chr8:47557988-47558287 | MCF-7 | breast: | n/a | chr8:47558092-47558103 |
34 | CEBPB | chr8:47323477-47323711 | MCF-7 | breast: | n/a | n/a |
35 | CEBPB | chr8:47447503-47447785 | HepG2 | liver: | n/a | chr8:47447623-47447634 |
36 | CEBPB | chr8:47610006-47610207 | IMR90 | lung: | n/a | chr8:47610104-47610115 |
37 | CEBPB | chr8:47735917-47736098 | HepG2 | liver: | n/a | n/a |
38 | CEBPB | chr8:47072394-47072659 | HepG2 | liver: | n/a | chr8:47072498-47072509 |
39 | CEBPB | chr8:47561061-47561097 | HepG2 | liver: | n/a | n/a |
40 | CEBPB | chr8:47565434-47565709 | K562 | blood: | n/a | chr8:47565589-47565600 |
41 | CEBPB | chr8:47732060-47732380 | MCF-7 | breast: | n/a | chr8:47732251-47732262 |
42 | CEBPB | chr8:47662869-47663115 | HepG2 | liver: | n/a | chr8:47662934-47662945 |
43 | CEBPB | chr8:47732072-47732430 | HepG2 | liver: | n/a | chr8:47732251-47732262 |
44 | CEBPB | chr8:47491088-47491218 | IMR90 | lung: | n/a | chr8:47491158-47491169 |
45 | CEBPB | chr8:47547969-47548257 | HepG2 | liver: | n/a | n/a |
46 | CEBPB | chr8:47733759-47733964 | A549 | lung: | n/a | n/a |
47 | CEBPB | chr8:47546527-47547003 | IMR90 | lung: | n/a | chr8:47546682-47546693 |
48 | CEBPB | chr8:47726092-47726550 | MCF-7 | breast: | n/a | n/a |
49 | CEBPB | chr8:47730627-47730869 | A549 | lung: | n/a | n/a |
50 | CEBPB | chr8:47720612-47720628 | K562 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:47165466-47165516 | HCF | heart: | n/a |
2 | chr8:47120700-47120750 | HEEpiC | esophagus: | n/a |
3 | chr8:47329505-47329555 | HEEpiC | esophagus: | n/a |
4 | chr8:47142166-47142216 | IMR90 | lung: | fetal |
5 | chr8:47318832-47318882 | Caco-2 | colon: | n/a |
6 | chr8:47526309-47526359 | ECC-1 | luminal epithelium: | n/a |
7 | chr8:47165466-47165516 | HCF | heart: | n/a |
8 | chr8:47120700-47120750 | HEEpiC | esophagus: | n/a |
9 | chr8:47329505-47329555 | HEEpiC | esophagus: | n/a |
10 | chr8:47142166-47142216 | IMR90 | lung: | fetal |
11 | chr8:47318832-47318882 | Caco-2 | colon: | n/a |
12 | chr8:47526309-47526359 | ECC-1 | luminal epithelium: | n/a |
13 | chr8:47174057-47174107 | Hela-S3 | cervix: | n/a |
14 | chr8:47171722-47171772 | AoSMC | blood vessel: | n/a |
15 | chr8:47142166-47142216 | SAEC | small airway: | n/a |
16 | chr8:47108953-47109003 | SK-N-MC | brain: | n/a |
17 | chr8:47108770-47108820 | HCPEpiC | choroid plexus: | n/a |
18 | chr8:47120700-47120750 | HRPEpiC | eye: | n/a |
19 | chr8:47165466-47165516 | HCPEpiC | choroid plexus: | n/a |
20 | chr8:47348339-47348389 | HRE | kidney: | n/a |
21 | chr8:47174057-47174107 | HepG2 | liver: | n/a |
22 | chr8:47112230-47112280 | AG04450 | lung: | fetal |
23 | chr8:47527657-47527707 | SKMC | muscle: | n/a |
24 | chr8:47318669-47318719 | GM06990 | blood: | n/a |
25 | chr8:47108992-47109042 | GM12891 | blood: | n/a |
26 | chr8:47109229-47109279 | HCM | heart: | n/a |
27 | chr8:47142089-47142139 | Jurkat | blood: | n/a |
28 | chr8:47112230-47112280 | SK-N-SH_RA | brain: | n/a |
29 | chr8:47108953-47109003 | NH-A | brain: | n/a |
30 | chr8:47092995-47093045 | HAEpiC | amniotic membrane: | n/a |
31 | chr8:47318649-47318699 | Caco-2 | colon: | n/a |
32 | chr8:47529280-47529330 | NHBE | bronchial: | n/a |
33 | chr8:47156875-47156925 | HEK293 | kidney: | embryo |
34 | chr8:47145527-47145577 | RPTEC | kidney: | n/a |
35 | chr8:47348339-47348389 | NHBE | bronchial: | n/a |
36 | chr8:47344447-47344497 | HRPEpiC | eye: | n/a |
37 | chr8:47318883-47318933 | HCF | heart: | n/a |
38 | chr8:47348070-47348120 | HCM | heart: | n/a |
39 | chr8:47347811-47347861 | HCPEpiC | choroid plexus: | n/a |
40 | chr8:47174057-47174107 | K562 | blood: | n/a |
41 | chr8:47108318-47108368 | HIPEpiC | eye: | n/a |
42 | chr8:47326950-47327000 | HCF | heart: | n/a |
43 | chr8:47145527-47145577 | SK-N-SH_RA | brain: | n/a |
44 | chr8:47156401-47156451 | HCPEpiC | choroid plexus: | n/a |
45 | chr8:47145527-47145577 | HIPEpiC | eye: | n/a |
46 | chr8:47323167-47323217 | HCPEpiC | choroid plexus: | n/a |
47 | chr8:47109311-47109361 | GM12891 | blood: | n/a |
48 | chr8:47318698-47318748 | A549 | lung: | n/a |
49 | chr8:47323167-47323217 | BJ | skin: | n/a |
50 | chr8:47142089-47142139 | IMR90 | lung: | fetal |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:47524927..47529861-chr8:47530508..47536088,6 | K562 | blood: | |
2 | chr8:47528106..47530039-chr8:47536064..47537656,2 | MCF-7 | breast: | |
3 | chr8:46850638..46851140-chr8:47405865..47406365,2 | MCF-7 | breast: | |
4 | chr8:47517410..47521817-chr8:47524226..47528650,6 | K562 | blood: | |
5 | chr8:47152207..47152786-chr8:47399264..47399945,2 | MCF-7 | breast: | |
6 | chr7:97495363..97496869-chr8:47517938..47519464,2 | K562 | blood: | |
7 | chr8:47619541..47620262-chr8:47868295..47869178,3 | MCF-7 | breast: | |
8 | chr8:47506585..47508657-chr8:47510206..47513067,2 | K562 | blood: | |
9 | chr8:47618307..47619237-chr8:47916938..47917469,2 | MCF-7 | breast: | |
10 | chr8:47059851..47061946-chr8:47064644..47066356,2 | MCF-7 | breast: | |
11 | chr2:86830620..86831120-chr8:47284541..47285069,2 | MCF-7 | breast: | |
12 | chr19:35614212..35616054-chr8:47337776..47339296,2 | MCF-7 | breast: | |
13 | chr8:47491632..47493538-chr8:47505350..47507971,2 | K562 | blood: | |
14 | chr8:46940678..46941746-chr8:47130003..47131748,8 | MCF-7 | breast: | |
15 | chr8:47491632..47493538-chr8:47505350..47507971,2 | K562 | blood: | |
16 | chr8:46940855..46941726-chr8:47130252..47130754,2 | K562 | blood: | |
17 | chr8:47512649..47514644-chr8:47529072..47530746,2 | K562 | blood: | |
18 | chr8:47168205..47168775-chr8:47479656..47480472,2 | MCF-7 | breast: | |
19 | chr8:47528106..47530039-chr8:47536064..47537656,2 | MCF-7 | breast: | |
20 | chr8:47512649..47514644-chr8:47529072..47530746,2 | K562 | blood: | |
21 | chr8:47484279..47485112-chr8:47579488..47580411,3 | MCF-7 | breast: | |
22 | chr7:97501587..97502366-chr8:47529051..47529557,3 | HCT-116 | colon: | |
23 | chr8:47168205..47168775-chr8:47479656..47480472,2 | MCF-7 | breast: | |
24 | chr8:47515437..47518605-chr8:47528973..47530959,3 | K562 | blood: | |
25 | chr8:47152207..47152786-chr8:47399264..47399945,2 | MCF-7 | breast: | |
26 | chr8:47515437..47518605-chr8:47528973..47530959,3 | K562 | blood: | |
27 | chr8:47484279..47485112-chr8:47579488..47580411,3 | MCF-7 | breast: | |
28 | chr8:47103663..47106274-chr8:47108285..47110930,2 | K562 | blood: | |
29 | chr8:47618289..47619061-chr8:47868266..47869014,2 | MCF-7 | breast: | |
30 | chr8:47487702..47490248-chr8:47515594..47517867,2 | K562 | blood: | |
31 | chr8:47144016..47144925-chr8:47484500..47485152,3 | MCF-7 | breast: | |
32 | chr8:47144016..47144925-chr8:47484500..47485152,3 | MCF-7 | breast: | |
33 | chr8:47487702..47490248-chr8:47515594..47517867,2 | K562 | blood: | |
34 | chr8:47059851..47061946-chr8:47064644..47066356,2 | MCF-7 | breast: | |
35 | chr8:47103663..47106274-chr8:47108285..47110930,2 | K562 | blood: | |
36 | chr8:47619682..47620259-chr8:47831736..47832439,2 | MCF-7 | breast: | |
37 | chr8:47506585..47508657-chr8:47510206..47513067,2 | K562 | blood: | |
38 | chr8:47519082..47521588-chr8:47524616..47530066,4 | K562 | blood: | |
39 | chr8:47619331..47620431-chr8:47868217..47869326,4 | MCF-7 | breast: |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-LINC00293-2 | chr8:47703687-47703942 | NONHSAT126410 |
2 | lnc-LINC00293-4 | chr8:47460711-47460990 | NONHSAT126406 |
3 | lnc-LINC00293-2 | chr8:47704231-47704686 | NONHSAT126410 |
4 | lnc-RP11-350F16.2.1-2 | chr8:47730635-47730705 | XLOC_007078 |
5 | lnc-RP11-1134I14.8.1-3 | chr8:47733859-47734050 | ENSG00000253314.1 |
6 | lnc-RP11-350F16.2.1-2 | chr8:47722340-47723308 | XLOC_007078 |
7 | lnc-RP11-350F16.2.1-5 | chr8:47738850-47740031 | NONHSAT126413 |
8 | lnc-LINC00293-4 | chr8:47462233-47462424 | NONHSAT126406 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000228984 | TF binding region |
TRIM60P15 | TF binding region |
LINC00293 | TF binding region |
RNU6-656P | TF binding region |
ASNSP4 | TF binding region |
ENSG00000255915 | TF binding region |
HSPA8P13 | TF binding region |
ENSG00000254070 | TF binding region |
ASNSP1 | TF binding region |
ENSG00000228984 | CpG island |
TRIM60P15 | CpG island |
LINC00293 | CpG island |
RNU6-656P | CpG island |
ASNSP4 | CpG island |
ENSG00000255915 | CpG island |
HSPA8P13 | CpG island |
ENSG00000254070 | CpG island |
ASNSP1 | CpG island |
ENSG00000248498 | chromatin interactions |
ENSG00000070669 | chromatin interactions |
PPARGC1A | miRNA target sites |
USO1 | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs7386650 | chr8:47060977-47060978 | ZNF genes & repeats Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs371253954 | chr8:47060988-47060989 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs543760543 | chr8:47061006-47061007 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs557157293 | chr8:47061017-47061018 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs577121452 | chr8:47061023-47061024 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs545868686 | chr8:47061027-47061028 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs531548840 | chr8:47061031-47061032 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs375906475 | chr8:47061033-47061034 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs373028787 | chr8:47061040-47061041 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs540101437 | chr8:47061058-47061059 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs541796447 | chr8:47061067-47061068 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs553661240 | chr8:47061068-47061069 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs147545140 | chr8:47061076-47061077 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs369788023 | chr8:47061126-47061127 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs550080006 | chr8:47061165-47061166 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs184483183 | chr8:47061181-47061182 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs112862115 | chr8:47061191-47061192 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs552392516 | chr8:47061195-47061196 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs566147902 | chr8:47061209-47061210 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs189189185 | chr8:47061227-47061228 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs548533070 | chr8:47061228-47061229 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs373862694 | chr8:47061237-47061238 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs537301083 | chr8:47061238-47061239 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs557296170 | chr8:47061259-47061260 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs577257183 | chr8:47061290-47061291 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs374949416 | chr8:47061323-47061324 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs112978466 | chr8:47061340-47061341 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs192210926 | chr8:47061369-47061370 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs142946385 | chr8:47061371-47061372 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs533837296 | chr8:47061374-47061375 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs561693686 | chr8:47061382-47061383 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs545726941 | chr8:47061383-47061384 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs574894795 | chr8:47061387-47061388 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs151086826 | chr8:47061416-47061417 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs543579565 | chr8:47061451-47061452 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs532699904 | chr8:47061457-47061458 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs552329365 | chr8:47061463-47061464 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs559717670 | chr8:47061479-47061480 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs528551282 | chr8:47061495-47061496 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs183999369 | chr8:47061504-47061505 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs576496962 | chr8:47061505-47061506 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs564964078 | chr8:47061513-47061514 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs551036017 | chr8:47061516-47061517 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs189571597 | chr8:47061526-47061527 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs539774323 | chr8:47061550-47061551 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs553720631 | chr8:47061552-47061553 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs553106279 | chr8:47061561-47061562 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs572971091 | chr8:47061562-47061563 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs535494892 | chr8:47061581-47061582 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs139838312 | chr8:47061582-47061583 | ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Cancer | 16751803 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Wilms tumour | 21544195 | CNVD |
Gastric cancer | 17908304 | CNVD |
Melanoma | 18172304 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Autism | 19415332 | CNVD |
Malaria | 21533027 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Breast cancer | 21245420 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Oral cancer | 21386901 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Seminomas | 18059402 | CNVD |
Autism | 22495311 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Lung cancer | 18438408 | CNVD |
Pancreatic cancer | 21811587 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Developmental delay | 21373258 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Breast cancer | 17603634 | CNVD |
Pancreatic endocrine tumor | 17639061 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Testicular cancer | 18059402 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Breast cancer | 17133270 | CNVD |
Breast cancer | 21509527 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Breast cancer | 21858162 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Cancer | 20164919 | CNVD |
primary effusion lymphomas | 17116491 | CNVD |
Esophageal cancer | 20955586 | CNVD |
abnormal development | 18461090 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Cancer | 20164920 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Medulloblastoma | 20607354 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Langer-Giedion syndrome | 22283845 | CNVD |
Cancer | 21637783 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 20632083 | CNVD |
Breast cancer | 19602461 | CNVD |
Cancer | 22429812 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Oral cancer | 19627613 | CNVD |
Prostate cancer | 21088497 | CNVD |
colon cancer | 17210682 | CNVD |
Breast cancer | 21264507 | CNVD |
Breast cancer | 22028636 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Breast cancer | 20409316 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Gastric cancer | 17167181 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Breast cancer | 16461572 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Medulloblastoma | 16968546 | CNVD |
head and neck squamous cell carcinoma | 18028549 | CNVD |
Breast cancer | 17001317 | CNVD |
Schizophrenia | 20967226 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Autism | 20841430 | CNVD |
Tetralogy of Fallot | 22912587 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Congenital anomalies of the kidney and urinary tract | 18316590 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:47039200-47064400 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
2 | chr8:47046000-47063000 | ZNF genes & repeats | Foreskin Melanocyte Primary Cells skin01 | Skin |
3 | chr8:47049200-47061200 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
4 | chr8:47055200-47063400 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
5 | chr8:47066200-47076000 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
6 | chr8:47076200-47078200 | ZNF genes & repeats | Liver | Liver |
7 | chr8:47076800-47078600 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
8 | chr8:47078800-47079000 | ZNF genes & repeats | Breast Myoepithelial Primary Cells | Breast |
9 | chr8:47080800-47084400 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
10 | chr8:47081200-47087600 | ZNF genes & repeats | Breast Myoepithelial Primary Cells | Breast |
11 | chr8:47084000-47084400 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
12 | chr8:47084600-47085000 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
13 | chr8:47085400-47085600 | ZNF genes & repeats | Monocytes-CD14+_RO01746 | blood |
14 | chr8:47086400-47088800 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
15 | chr8:47086400-47091600 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
16 | chr8:47086400-47175600 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
17 | chr8:47087600-47090200 | Strong transcription | Breast Myoepithelial Primary Cells | Breast |
18 | chr8:47090200-47093400 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
19 | chr8:47093400-47094000 | Strong transcription | Breast Myoepithelial Primary Cells | Breast |
20 | chr8:47093600-47104400 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
21 | chr8:47094000-47095200 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
22 | chr8:47095000-47095200 | ZNF genes & repeats | Foreskin Melanocyte Primary Cells skin01 | Skin |
23 | chr8:47095200-47095600 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
24 | chr8:47095600-47097000 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
25 | chr8:47095600-47097200 | Genic enhancers | Breast Myoepithelial Primary Cells | Breast |
26 | chr8:47096800-47097000 | Bivalent Enhancer | Skeletal Muscle Male | skeletal muscle |
27 | chr8:47097000-47097600 | Bivalent Enhancer | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
28 | chr8:47097200-47097800 | Bivalent Enhancer | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
29 | chr8:47097200-47099600 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
30 | chr8:47098800-47103200 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
31 | chr8:47099600-47100600 | ZNF genes & repeats | Foreskin Fibroblast Primary Cells skin02 | Skin |
32 | chr8:47099600-47104200 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
33 | chr8:47100400-47101600 | ZNF genes & repeats | Foreskin Melanocyte Primary Cells skin01 | Skin |
34 | chr8:47104000-47107800 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
35 | chr8:47104200-47104600 | Genic enhancers | Breast Myoepithelial Primary Cells | Breast |
36 | chr8:47104600-47107200 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
37 | chr8:47106200-47128000 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
38 | chr8:47106600-47107200 | ZNF genes & repeats | Foreskin Melanocyte Primary Cells skin01 | Skin |
39 | chr8:47107200-47110200 | Genic enhancers | Breast Myoepithelial Primary Cells | Breast |
40 | chr8:47108000-47109200 | Enhancers | Spleen | Spleen |
41 | chr8:47110200-47119400 | Strong transcription | Breast Myoepithelial Primary Cells | Breast |
42 | chr8:47111800-47114000 | ZNF genes & repeats | Foreskin Fibroblast Primary Cells skin02 | Skin |
43 | chr8:47112000-47112200 | ZNF genes & repeats | Cortex derived primary cultured neurospheres | brain |
44 | chr8:47113000-47114000 | ZNF genes & repeats | Foreskin Melanocyte Primary Cells skin01 | Skin |
45 | chr8:47114400-47114600 | ZNF genes & repeats | Foreskin Fibroblast Primary Cells skin01 | Skin |
46 | chr8:47117400-47118400 | ZNF genes & repeats | Brain Germinal Matrix | brain |
47 | chr8:47118000-47118200 | ZNF genes & repeats | Fetal Brain Female | brain |
48 | chr8:47119200-47125800 | ZNF genes & repeats | Foreskin Melanocyte Primary Cells skin01 | Skin |
49 | chr8:47119400-47121400 | Genic enhancers | Breast Myoepithelial Primary Cells | Breast |
50 | chr8:47120000-47120800 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |