Variant report
Variant | nsv539568 |
---|---|
Chromosome Location | chr8:43048315-43635432 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1934)
- CpG islands (count:4215)
- Chromatin interactive region (count:367)
- LncRNA region (count:22)
- 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 | ATF1 | chr8:43094373-43097182 | K562 | blood: | n/a | n/a |
2 | ATF1 | chr8:43092711-43094031 | K562 | blood: | n/a | n/a |
3 | ATF2 | chr8:43108629-43109665 | GM12878 | blood: | n/a | n/a |
4 | ATF2 | chr8:43108749-43109645 | GM12878 | blood: | n/a | n/a |
5 | ATF3 | chr8:43147119-43147233 | K562 | blood: | n/a | n/a |
6 | ATF3 | chr8:43135865-43136266 | HepG2 | liver: | n/a | n/a |
7 | ATF3 | chr8:43093031-43093316 | GM12878 | blood: | n/a | n/a |
8 | ATF3 | chr8:43092744-43093362 | H1-hESC | embryonic stem cell: | n/a | n/a |
9 | ATF3 | chr8:43135995-43136320 | GM12878 | blood: | n/a | n/a |
10 | ATF3 | chr8:43092762-43093021 | GM12878 | blood: | n/a | n/a |
11 | ATF3 | chr8:43136024-43136278 | K562 | blood: | n/a | n/a |
12 | ATF3 | chr8:43136037-43136199 | HepG2 | liver: | n/a | n/a |
13 | BACH1 | chr8:43092590-43097183 | K562 | blood: | n/a | n/a |
14 | BACH1 | chr8:43572418-43572443 | K562 | blood: | n/a | n/a |
15 | BATF | chr8:43109976-43110180 | GM12878 | blood: | n/a | n/a |
16 | BATF | chr8:43108719-43109805 | GM12878 | blood: | n/a | chr8:43109272-43109283 |
17 | BATF | chr8:43109104-43109534 | GM12878 | blood: | n/a | chr8:43109272-43109283 |
18 | BATF | chr8:43109893-43110159 | GM12878 | blood: | n/a | n/a |
19 | BCL11A | chr8:43109074-43109557 | GM12878 | blood: | n/a | n/a |
20 | BCL11A | chr8:43092760-43093018 | H1-hESC | embryonic stem cell: | n/a | n/a |
21 | BCL11A | chr8:43109237-43109516 | GM12878 | blood: | n/a | n/a |
22 | BCL11A | chr8:43093044-43093315 | H1-hESC | embryonic stem cell: | n/a | n/a |
23 | BCL3 | chr8:43109125-43109600 | GM12878 | blood: | n/a | n/a |
24 | BCL3 | chr8:43061081-43061415 | GM12878 | blood: | n/a | n/a |
25 | BHLHE40 | chr8:43093607-43094086 | HepG2 | liver: | n/a | n/a |
26 | BHLHE40 | chr8:43135956-43136341 | GM12878 | blood: | n/a | n/a |
27 | BHLHE40 | chr8:43092680-43093343 | HepG2 | liver: | n/a | n/a |
28 | BHLHE40 | chr8:43109185-43109506 | GM12878 | blood: | n/a | n/a |
29 | BHLHE40 | chr8:43096328-43097227 | HepG2 | liver: | n/a | n/a |
30 | BHLHE40 | chr8:43135956-43136331 | K562 | blood: | n/a | n/a |
31 | BHLHE40 | chr8:43095678-43096317 | HepG2 | liver: | n/a | n/a |
32 | BHLHE40 | chr8:43135971-43136325 | HepG2 | liver: | n/a | n/a |
33 | BHLHE40 | chr8:43147157-43147318 | K562 | blood: | n/a | chr8:43147193-43147202 |
34 | BHLHE40 | chr8:43572418-43572443 | K562 | blood: | n/a | n/a |
35 | BHLHE40 | chr8:43094597-43095487 | HepG2 | liver: | n/a | n/a |
36 | BRCA1 | chr8:43519669-43520216 | Hela-S3 | cervix: | n/a | n/a |
37 | BRCA1 | chr8:43092713-43097248 | Hela-S3 | cervix: | n/a | n/a |
38 | BRCA1 | chr8:43092712-43097416 | HepG2 | liver: | n/a | n/a |
39 | CBX3 | chr8:43135925-43136324 | K562 | blood: | n/a | n/a |
40 | CBX3 | chr8:43420572-43420906 | K562 | blood: | n/a | n/a |
41 | CBX3 | chr8:43136043-43136239 | K562 | blood: | n/a | n/a |
42 | CCNT2 | chr8:43136064-43136182 | K562 | blood: | n/a | n/a |
43 | CCNT2 | chr8:43092712-43097183 | K562 | blood: | n/a | n/a |
44 | CEBPB | chr8:43302895-43303465 | A549 | lung: | n/a | chr8:43303409-43303422 chr8:43303410-43303421 |
45 | CEBPB | chr8:43058008-43058304 | Hela-S3 | cervix: | n/a | chr8:43058145-43058156 |
46 | CEBPB | chr8:43572344-43572445 | Hela-S3 | cervix: | n/a | n/a |
47 | CEBPB | chr8:43222991-43222998 | HepG2 | liver: | n/a | n/a |
48 | CEBPB | chr8:43306491-43306829 | A549 | lung: | n/a | chr8:43306646-43306657 chr8:43306657-43306668 |
49 | CEBPB | chr8:43414610-43414720 | HepG2 | liver: | n/a | n/a |
50 | CEBPB | chr8:43373700-43374000 | HepG2 | liver: | n/a | chr8:43373832-43373843 |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:43402930-43402980 | U87 | brain: | n/a |
2 | chr8:43059960-43060010 | RPTEC | kidney: | n/a |
3 | chr8:43059863-43059913 | BJ | skin: | n/a |
4 | chr8:43402930-43402980 | HIPEpiC | eye: | n/a |
5 | chr8:43126988-43127038 | HEK293 | kidney: | embryo |
6 | chr8:43125995-43126045 | HRE | kidney: | n/a |
7 | chr8:43402930-43402980 | U87 | brain: | n/a |
8 | chr8:43059960-43060010 | RPTEC | kidney: | n/a |
9 | chr8:43059863-43059913 | BJ | skin: | n/a |
10 | chr8:43402930-43402980 | HIPEpiC | eye: | n/a |
11 | chr8:43126988-43127038 | HEK293 | kidney: | embryo |
12 | chr8:43125995-43126045 | HRE | kidney: | n/a |
13 | chr8:43062063-43062113 | HepG2 | liver: | n/a |
14 | chr8:43061532-43061582 | BE2_C | brain: | n/a |
15 | chr8:43102008-43102058 | PrEC | prostate: | n/a |
16 | chr8:43102008-43102058 | CMK | blood: | n/a |
17 | chr8:43406314-43406364 | HCPEpiC | choroid plexus: | n/a |
18 | chr8:43055420-43055470 | HEK293 | kidney: | embryo |
19 | chr8:43125995-43126045 | AG09309 | skin: | n/a |
20 | chr8:43146218-43146268 | HUVEC | blood vessel: | n/a |
21 | chr8:43061729-43061779 | HL-60 | blood: | n/a |
22 | chr8:43102605-43102655 | HRPEpiC | eye: | n/a |
23 | chr8:43403277-43403327 | HRPEpiC | eye: | n/a |
24 | chr8:43055930-43055980 | HEEpiC | esophagus: | n/a |
25 | chr8:43058087-43058137 | HepG2 | liver: | n/a |
26 | chr8:43418406-43418456 | AG10803 | skin: | n/a |
27 | chr8:43147602-43147652 | ECC-1 | luminal epithelium: | n/a |
28 | chr8:43058087-43058137 | NHBE | bronchial: | n/a |
29 | chr8:43406314-43406364 | GM19239 | blood: | n/a |
30 | chr8:43406314-43406364 | AG10803 | skin: | n/a |
31 | chr8:43060278-43060328 | IMR90 | lung: | fetal |
32 | chr8:43124515-43124565 | Hela-S3 | cervix: | n/a |
33 | chr8:43406411-43406461 | K562 | blood: | n/a |
34 | chr8:43147741-43147791 | Caco-2 | colon: | n/a |
35 | chr8:43132125-43132175 | SAEC | small airway: | n/a |
36 | chr8:43126988-43127038 | IMR90 | lung: | fetal |
37 | chr8:43131535-43131585 | ProgFib | skin: | n/a |
38 | chr8:43417291-43417341 | SAEC | small airway: | n/a |
39 | chr8:43059863-43059913 | HAEpiC | amniotic membrane: | n/a |
40 | chr8:43127238-43127288 | HUVEC | blood vessel: | n/a |
41 | chr8:43061532-43061582 | NT2-D1 | testis: | n/a |
42 | chr8:43131431-43131481 | BE2_C | brain: | n/a |
43 | chr8:43147741-43147791 | HUVEC | blood vessel: | n/a |
44 | chr8:43405687-43405737 | SK-N-SH_RA | brain: | n/a |
45 | chr8:43124515-43124565 | NH-A | brain: | n/a |
46 | chr8:43278783-43278833 | H1-hESC | embryonic stem cell: | embryo |
47 | chr8:43417050-43417100 | HIPEpiC | eye: | n/a |
48 | chr8:43058931-43058981 | GM06990 | blood: | n/a |
49 | chr8:43059756-43059806 | A549 | lung: | n/a |
50 | chr8:43406314-43406364 | BE2_C | brain: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:86216336..86217246-chr8:43096461..43097003,2 | HCT-116 | colon: | |
2 | chr8:43096231..43096892-chr9:14244600..14245100,2 | MCF-7 | breast: | |
3 | chr8:43092769..43093431-chrX:124181042..124182022,3 | MCF-7 | breast: | |
4 | chr13:54256787..54257307-chr8:43092259..43092930,2 | MCF-7 | breast: | |
5 | chr17:17653936..17654643-chr8:43092279..43092781,2 | MCF-7 | breast: | |
6 | chr8:43064558..43067079-chr8:43069126..43070998,2 | K562 | blood: | |
7 | chr11:123166232..123169232-chr8:43091408..43092930,3 | K562 | blood: | |
8 | chr13:30720797..30723795-chr8:43093825..43096195,3 | MCF-7 | breast: | |
9 | chr8:43091409..43094429-chrX:124180042..124183022,3 | MCF-7 | breast: | |
10 | chr13:82081672..82083192-chr8:43091430..43093387,2 | K562 | blood: | |
11 | chr20:56089143..56089800-chr8:43092428..43092931,2 | MCF-7 | breast: | |
12 | chr11:25259489..25259989-chr8:43095397..43095932,2 | MCF-7 | breast: | |
13 | chr13:36122141..36125141-chr8:43091409..43095040,5 | MCF-7 | breast: | |
14 | chr4:188390078..188391598-chr8:43091410..43092931,3 | MCF-7 | breast: | |
15 | chr8:43094206..43095212-chrX:124181042..124181542,3 | MCF-7 | breast: | |
16 | chr13:36123141..36123661-chr8:43092410..43092930,2 | MCF-7 | breast: | |
17 | chr2:109955404..109956904-chr8:43095971..43098089,2 | K562 | blood: | |
18 | chr15:52140617..52141273-chr8:43092930..43093431,2 | MCF-7 | breast: | |
19 | chr8:43091408..43093800-chr8:43095231..43097056,5 | K562 | blood: | |
20 | chr8:43091411..43093800-chr8:43094414..43097056,10 | K562 | blood: | |
21 | chr4:53213809..53216789-chr8:43091931..43095203,3 | MCF-7 | breast: | |
22 | chr3:155461931..155462531-chr8:43096224..43096734,2 | MCF-7 | breast: | |
23 | chr6:19041569..19042567-chr8:43092410..43093429,5 | MCF-7 | breast: | |
24 | chr21:28250452..28250971-chr8:43096088..43096724,2 | MCF-7 | breast: | |
25 | chr2:216767659..216768259-chr8:43092430..43093429,2 | MCF-7 | breast: | |
26 | chr8:43069219..43071283-chr8:43129301..43131472,2 | K562 | blood: | |
27 | chr3:3995189..3996691-chr8:43091408..43092911,2 | MCF-7 | breast: | |
28 | chr4:120182161..120185141-chr8:43091410..43093269,2 | K562 | blood: | |
29 | chr17:59485568..59489232-chr8:43094345..43096984,3 | MCF-7 | breast: | |
30 | chr11:123167232..123167752-chr8:43092976..43093788,2 | MCF-7 | breast: | |
31 | chr20:53415396..53416034-chr8:43094733..43095732,2 | MCF-7 | breast: | |
32 | chr12:46662387..46662957-chr8:43095952..43096734,2 | MCF-7 | breast: | |
33 | chr11:7573923..7575423-chr8:43091428..43092929,2 | K562 | blood: | |
34 | chr8:42948202..42949138-chr8:43130975..43131934,4 | K562 | blood: | |
35 | chr15:63385860..63386443-chr8:43553599..43554374,2 | MCF-7 | breast: | |
36 | chr10:116739587..116740088-chr8:43092410..43093248,2 | MCF-7 | breast: | |
37 | chr8:43083855..43085786-chr8:43086254..43089170,2 | K562 | blood: | |
38 | chr1:200148448..200149209-chr8:43095969..43096758,2 | MCF-7 | breast: | |
39 | chr7:132460858..132461358-chr8:43096234..43097112,2 | MCF-7 | breast: | |
40 | chr13:40006578..40007558-chr8:43094711..43095212,2 | MCF-7 | breast: | |
41 | chr11:123167232..123167752-chr8:43092408..43092930,2 | NB4 | blood: | |
42 | chr8:43096413..43096983-chr8:117640692..117641212,2 | MCF-7 | breast: | |
43 | chr4:120183641..120184141-chr8:43094991..43095897,2 | MCF-7 | breast: | |
44 | chr22:28789197..28789697-chr8:43093984..43094906,2 | HCT-116 | colon: | |
45 | chr3:64008961..64009732-chr8:43094720..43095221,2 | MCF-7 | breast: | |
46 | chr3:39041231..39041731-chr8:43093864..43094702,2 | MCF-7 | breast: | |
47 | chr13:36123141..36123641-chr8:43092428..43092931,2 | MCF-7 | breast: | |
48 | chr17:54787038..54787774-chr8:43092430..43092930,2 | MCF-7 | breast: | |
49 | chr8:43092410..43092931-chr9:85470654..85471174,4 | MCF-7 | breast: | |
50 | chr12:93966585..93967085-chr8:43094653..43095195,2 | MCF-7 | breast: |
(count:22 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-RNF170-5 | chr8:43094654-43095063 | NONHSAT126340 |
2 | lnc-HGSNAT-4 | chr8:43169091-43169343 | NONHSAT126351 |
3 | lnc-HGSNAT-7 | chr8:43303948-43304047 | NONHSAT126356 |
4 | lnc-HGSNAT-8 | chr8:43349080-43349905 | NONHSAT126357 |
5 | lnc-HGSNAT-6 | chr8:43236787-43237091 | NONHSAT126355 |
6 | lnc-HGSNAT-5 | chr8:43233441-43233652 | NONHSAT126354 |
7 | lnc-RNF170-5 | chr8:43095855-43096073 | NONHSAT126340 |
8 | lnc-RNF170-1 | chr8:43097496-43097508 | XLOC_007077 |
9 | lnc-RNF170-8 | chr8:43366963-43367176 | NONHSAT126358 |
10 | lnc-HGSNAT-9 | chr8:43368786-43369564 | NONHSAT126361 |
11 | lnc-HGSNAT-2 | chr8:43108875-43108959 | NONHSAT126346 |
12 | lnc-HGSNAT-7 | chr8:43306599-43306780 | NONHSAT126356 |
13 | lnc-HGSNAT-2 | chr8:43109018-43109232 | NONHSAT126346 |
14 | lnc-HGSNAT-10 | chr8:43394280-43394615 | NONHSAT126362 |
15 | lnc-RNF170-1 | chr8:43097495-43097508 | NONHSAT126341 |
16 | lnc-RNF170-1 | chr8:43096867-43097076 | XLOC_007077 |
17 | lnc-HGSNAT-7 | chr8:43298045-43298224 | NONHSAT126356 |
18 | lnc-RNF170-9 | chr8:43529413-43529734 | NONHSAT126368 |
19 | lnc-HGSNAT-12 | chr8:43527966-43528218 | NONHSAT126367 |
20 | lnc-RNF170-1 | chr8:43096866-43097076 | NONHSAT126341 |
21 | lnc-HGSNAT-7 | chr8:43299491-43299558 | NONHSAT126356 |
22 | lnc-HGSNAT-7 | chr8:43307943-43308055 | NONHSAT126356 |
No data |
No data |
Variant related genes | Relation type |
---|---|
CYP4F44P | TF binding region |
ENSG00000253195 | TF binding region |
ENSG00000254145 | TF binding region |
ENSG00000250637 | TF binding region |
VN1R46P | TF binding region |
ENSG00000255166 | TF binding region |
ENSG00000221295 | TF binding region |
ENSG00000253845 | TF binding region |
ENSG00000201329 | TF binding region |
ENSG00000255497 | TF binding region |
AFG3L2P1 | TF binding region |
ENSG00000253884 | TF binding region |
ENSG00000253186 | TF binding region |
ENSG00000254342 | TF binding region |
ENSG00000253198 | TF binding region |
RN7SKP41 | TF binding region |
HGSNAT | TF binding region |
POTEA | TF binding region |
ENSG00000253486 | TF binding region |
ENSG00000253707 | TF binding region |
ENSG00000253319 | TF binding region |
RNU6-104P | TF binding region |
SNX18P27 | TF binding region |
ENSG00000264094 | TF binding region |
ENSG00000253312 | TF binding region |
ENSG00000234713 | TF binding region |
ENSG00000254069 | TF binding region |
CYP4F44P | CpG island |
ENSG00000253195 | CpG island |
ENSG00000254145 | CpG island |
ENSG00000250637 | CpG island |
VN1R46P | CpG island |
ENSG00000255166 | CpG island |
ENSG00000221295 | CpG island |
ENSG00000253845 | CpG island |
ENSG00000201329 | CpG island |
ENSG00000255497 | CpG island |
AFG3L2P1 | CpG island |
ENSG00000253884 | CpG island |
ENSG00000253186 | CpG island |
ENSG00000254342 | CpG island |
ENSG00000253198 | CpG island |
RN7SKP41 | CpG island |
HGSNAT | CpG island |
POTEA | CpG island |
ENSG00000253486 | CpG island |
ENSG00000253707 | CpG island |
ENSG00000253319 | CpG island |
RNU6-104P | CpG island |
SNX18P27 | CpG island |
ENSG00000264094 | CpG island |
ENSG00000253312 | CpG island |
ENSG00000234713 | CpG island |
ENSG00000254069 | CpG island |
ENSG00000177731 | chromatin interactions |
ENSG00000238509 | chromatin interactions |
ENSG00000116774 | chromatin interactions |
ENSG00000253195 | chromatin interactions |
ENSG00000165102 | chromatin interactions |
ENSG00000087191 | chromatin interactions |
ENSG00000145390 | chromatin interactions |
ENSG00000146192 | chromatin interactions |
ENSG00000163466 | chromatin interactions |
ENSG00000204569 | chromatin interactions |
ENSG00000253486 | chromatin interactions |
ENSG00000108592 | chromatin interactions |
ENSG00000230992 | chromatin interactions |
ENSG00000169189 | chromatin interactions |
ENSG00000253748 | chromatin interactions |
ENSG00000167700 | chromatin interactions |
ENSG00000245888 | chromatin interactions |
ENSG00000197324 | chromatin interactions |
ENSG00000163636 | chromatin interactions |
ENSG00000111371 | chromatin interactions |
ENSG00000136021 | chromatin interactions |
ENSG00000136492 | chromatin interactions |
ENSG00000222894 | chromatin interactions |
ENSG00000121068 | chromatin interactions |
ENSG00000187013 | chromatin interactions |
ENSG00000131051 | chromatin interactions |
ENSG00000167513 | chromatin interactions |
ENSG00000147526 | chromatin interactions |
ENSG00000267280 | chromatin interactions |
ENSG00000184678 | chromatin interactions |
ENSG00000108654 | chromatin interactions |
ENSG00000159063 | chromatin interactions |
ENSG00000185900 | chromatin interactions |
ENSG00000124171 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs538397662 | chr8:43048334-43048335 | Weak transcription ZNF genes & repeats Genic enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs532399225 | chr8:43048353-43048354 | Weak transcription ZNF genes & repeats Genic enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs558409000 | chr8:43048387-43048388 | Weak transcription ZNF genes & repeats Genic enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs545790651 | chr8:43048442-43048443 | Weak transcription ZNF genes & repeats Genic enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs182378300 | chr8:43048508-43048509 | Weak transcription ZNF genes & repeats Genic enhancers Strong transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs553614826 | chr8:43048526-43048527 | Weak transcription ZNF genes & repeats Genic enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs573580496 | chr8:43048580-43048581 | Weak transcription ZNF genes & repeats Genic enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs147401912 | chr8:43048586-43048587 | Weak transcription ZNF genes & repeats Genic enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs187770044 | chr8:43048589-43048590 | Weak transcription ZNF genes & repeats Genic enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs374552584 | chr8:43048607-43048608 | Weak transcription ZNF genes & repeats Genic enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs545529712 | chr8:43048613-43048614 | Weak transcription ZNF genes & repeats Genic enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs531523133 | chr8:43048624-43048625 | Weak transcription ZNF genes & repeats Genic enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs544768990 | chr8:43048644-43048645 | Weak transcription ZNF genes & repeats Genic enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs192549086 | chr8:43048645-43048646 | Weak transcription ZNF genes & repeats Genic enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs554164491 | chr8:43048707-43048708 | Weak transcription ZNF genes & repeats Genic enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs527508907 | chr8:43048716-43048717 | Weak transcription ZNF genes & repeats Genic enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs185096513 | chr8:43048757-43048758 | Weak transcription ZNF genes & repeats Genic enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs566889270 | chr8:43048850-43048851 | Weak transcription ZNF genes & repeats Strong transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs373930673 | chr8:43048879-43048880 | Weak transcription ZNF genes & repeats Strong transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs376109017 | chr8:43048880-43048881 | Weak transcription ZNF genes & repeats Strong transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs572520712 | chr8:43048893-43048894 | Weak transcription ZNF genes & repeats Strong transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs370314091 | chr8:43048925-43048926 | Weak transcription ZNF genes & repeats Strong transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs148467283 | chr8:43048955-43048956 | Weak transcription ZNF genes & repeats Strong transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs121908284 | chr8:43048967-43048968 | Weak transcription ZNF genes & repeats Strong transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs398124545 | chr8:43048987-43048988 | Weak transcription ZNF genes & repeats Strong transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs573124827 | chr8:43048997-43048998 | Weak transcription ZNF genes & repeats Strong transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs549114375 | chr8:43049027-43049028 | Weak transcription ZNF genes & repeats Strong transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs373734398 | chr8:43049033-43049034 | Weak transcription ZNF genes & repeats Strong transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs569546656 | chr8:43049081-43049082 | Weak transcription ZNF genes & repeats Strong transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs117202729 | chr8:43049131-43049132 | Weak transcription ZNF genes & repeats Strong transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs142617469 | chr8:43049149-43049150 | Weak transcription ZNF genes & repeats Strong transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs77979383 | chr8:43049195-43049196 | Weak transcription ZNF genes & repeats Strong transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs397796695 | chr8:43049202-43049203 | Weak transcription ZNF genes & repeats Strong transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs377707340 | chr8:43049251-43049252 | Weak transcription ZNF genes & repeats Strong transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs571849191 | chr8:43049287-43049288 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs35270980 | chr8:43049330-43049331 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
37 | rs368479323 | chr8:43049422-43049423 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs553821447 | chr8:43049497-43049498 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs150946166 | chr8:43049505-43049506 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs376472989 | chr8:43049566-43049567 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs139524860 | chr8:43049589-43049590 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs143137876 | chr8:43049599-43049600 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs370256906 | chr8:43049606-43049607 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs563061794 | chr8:43049616-43049617 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs544880379 | chr8:43049642-43049643 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs372658645 | chr8:43049645-43049646 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs564880471 | chr8:43049647-43049648 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs146674350 | chr8:43049681-43049682 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs540874654 | chr8:43049714-43049715 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs560584021 | chr8:43049726-43049727 | Weak transcription ZNF genes & repeats Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Prostate cancer | 16573809 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Cancer | 21637783 | CNVD |
Breast cancer | 20837533 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Cancer | 22429812 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Breast cancer | 21264507 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Oral cancer | 21386901 | CNVD |
Prostate cancer | 21088497 | CNVD |
Prostate cancer | 21965145 | CNVD |
Breast cancer | 20940404 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Embryonal rhabdomyosarcoma | 16790082 | CNVD |
Gastric cancer | 17167181 | CNVD |
Prostate cancer | 16705090 | CNVD |
8p-syndrome | 17576883 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Medulloblastoma | 16968546 | CNVD |
Lung adenocarcinoma | 19525976 | CNVD |
Lung cancer | 19525976 | CNVD |
Prostate cancer | 17245344 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Cancer | 16751803 | CNVD |
Wilms tumour | 21544195 | CNVD |
Gastric cancer | 17908304 | CNVD |
Melanoma | 18172304 | CNVD |
Medulloblastoma | 21979893 | 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 |
Acute myeloid leukemia | 20729466 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Seminomas | 18059402 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
Immune disease | 21572526 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Kallmann Syndrome 2 | 22470819 | CNVD |
Autism | 22495311 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Lung cancer | 18438408 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Pancreatic cancer | 21811587 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Developmental delay | 21373258 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Myelofibrosis | 22110671 | 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 |
Hepatocellular carcinoma | 16750200 | CNVD |
Bladder cancer | 19088036 | CNVD |
Non-muscle invasive bladder neoplasm | 19445696 | CNVD |
Breast cancer | 17001308 | CNVD |
Breast cancer | 17157792 | CNVD |
Cancer | 17001308 | CNVD |
Cancer | 18840272 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Chordoma | 18071362 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Breast cancer | 17133270 | CNVD |
Breast cancer | 16608533 | CNVD |
Breast cancer | 21509527 | CNVD |
Breast cancer | 21785460 | CNVD |
Rhabdomyosarcoma | 16790082 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Breast cancer | 21858162 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Medulloblastoma | 19270706 | CNVD |
Cutaneous T-cell lymphoma | 21881587 | CNVD |
Breast cancer | 21045282 | CNVD |
Lung cancer | 17925434 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Sezary syndrome | 18413736 | CNVD |
Cancer | 20164919 | CNVD |
primary effusion lymphomas | 17116491 | CNVD |
Esophageal cancer | 20955586 | CNVD |
abnormal development | 18461090 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Cancer | 20164920 | CNVD |
Lung adenocarcinoma | 21935476 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Mental retardation | 17124404 | CNVD |
Schizophrenia | 23813976 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Medulloblastoma | 20607354 | CNVD |
Breast cancer | 21364760 | CNVD |
Non-syndromic sensorineural hearing loss | 19587683 | CNVD |
Schizophrenia | 20967226 | CNVD |
Bipolar disorder | 19214233 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:43009000-43048400 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
2 | chr8:43009000-43052000 | Weak transcription | Fetal Heart | heart |
3 | chr8:43026400-43058800 | Weak transcription | Small Intestine | intestine |
4 | chr8:43026800-43056400 | Weak transcription | Fetal Thymus | thymus |
5 | chr8:43028200-43049200 | Weak transcription | Primary T killer memory cells from peripheral blood | blood |
6 | chr8:43030400-43059200 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
7 | chr8:43042800-43057600 | Strong transcription | Fetal Intestine Large | intestine |
8 | chr8:43042800-43058200 | Strong transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
9 | chr8:43043200-43057800 | Strong transcription | Primary monocytes fromperipheralblood | blood |
10 | chr8:43043200-43058200 | Strong transcription | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
11 | chr8:43043400-43050200 | Strong transcription | Rectal Mucosa Donor 31 | rectum |
12 | chr8:43043400-43050600 | Strong transcription | Primary B cells from peripheral blood | blood |
13 | chr8:43043400-43057000 | Strong transcription | Fetal Lung | lung |
14 | chr8:43043400-43057600 | Strong transcription | Primary T helper naive cells fromperipheralblood | blood |
15 | chr8:43043600-43050600 | Strong transcription | Breast Myoepithelial Primary Cells | Breast |
16 | chr8:43043600-43057800 | Strong transcription | Duodenum Mucosa | Duodenum |
17 | chr8:43043600-43058200 | Strong transcription | Primary neutrophils fromperipheralblood | blood |
18 | chr8:43043800-43057600 | Strong transcription | Fetal Intestine Small | intestine |
19 | chr8:43044200-43050200 | Strong transcription | Rectal Mucosa Donor 29 | rectum |
20 | chr8:43044200-43050200 | Strong transcription | Spleen | Spleen |
21 | chr8:43044200-43057600 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
22 | chr8:43044200-43057600 | Strong transcription | Primary mononuclear cells fromperipheralblood | Blood |
23 | chr8:43044200-43058200 | Strong transcription | Sigmoid Colon | Sigmoid Colon |
24 | chr8:43044400-43048600 | Strong transcription | Liver | Liver |
25 | chr8:43044400-43050200 | Strong transcription | Brain Hippocampus Middle | brain |
26 | chr8:43044400-43050200 | Strong transcription | Brain Substantia Nigra | brain |
27 | chr8:43044400-43053400 | Strong transcription | Brain Cingulate Gyrus | brain |
28 | chr8:43044400-43059400 | Strong transcription | Monocytes-CD14+_RO01746 | blood |
29 | chr8:43044400-43059600 | Strong transcription | Fetal Brain Female | brain |
30 | chr8:43044600-43053000 | Strong transcription | Lung | lung |
31 | chr8:43044600-43056400 | Strong transcription | Dnd41 | blood |
32 | chr8:43044600-43057600 | Strong transcription | Primary hematopoietic stem cells | blood |
33 | chr8:43044600-43057600 | Strong transcription | Primary Natural Killer cells fromperipheralblood | blood |
34 | chr8:43044800-43056600 | Strong transcription | Primary B cells from cord blood | blood |
35 | chr8:43044800-43057800 | Strong transcription | Placenta | Placenta |
36 | chr8:43045000-43056000 | Strong transcription | Primary T regulatory cells fromperipheralblood | blood |
37 | chr8:43045000-43056800 | Strong transcription | Primary T helper cells PMA-I stimulated | -- |
38 | chr8:43045000-43057400 | Strong transcription | Primary hematopoietic stem cells short term culture | blood |
39 | chr8:43045200-43055000 | Strong transcription | Fetal Kidney | kidney |
40 | chr8:43045200-43057200 | Strong transcription | Primary T cells fromperipheralblood | blood |
41 | chr8:43045200-43057400 | Strong transcription | Primary T cells from cord blood | blood |
42 | chr8:43045400-43049600 | Strong transcription | Primary T cells effector/memory enriched fromperipheralblood | blood |
43 | chr8:43045400-43050200 | Strong transcription | Primary T helper cells fromperipheralblood | blood |
44 | chr8:43045400-43057600 | Strong transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
45 | chr8:43045600-43048800 | Genic enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
46 | chr8:43045600-43053600 | Strong transcription | Right Ventricle | heart |
47 | chr8:43045600-43057600 | Strong transcription | Gastric | stomach |
48 | chr8:43045600-43057800 | Strong transcription | Brain Germinal Matrix | brain |
49 | chr8:43045800-43048800 | Strong transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
50 | chr8:43046000-43058200 | Strong transcription | Brain Anterior Caudate | brain |