Variant report
Variant | nsv1017335 |
---|---|
Chromosome Location | chr8:47036657-47555196 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1241)
- CpG islands (count:3846)
- Chromatin interactive region (count:33)
- LncRNA region (count:2)
- 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 | chr8:47263663-47264034 | K562 | blood: | n/a | n/a |
5 | ATF1 | chr8:47049142-47049269 | K562 | blood: | n/a | n/a |
6 | ATF1 | chr8:47551373-47551428 | K562 | blood: | n/a | n/a |
7 | ATF3 | chr8:47529101-47529363 | K562 | blood: | n/a | n/a |
8 | BACH1 | chr8:47536608-47536724 | K562 | blood: | n/a | n/a |
9 | BHLHE40 | chr8:47424515-47424559 | GM12878 | blood: | n/a | n/a |
10 | BHLHE40 | chr8:47047525-47047640 | K562 | blood: | n/a | n/a |
11 | BHLHE40 | chr8:47484595-47485045 | K562 | blood: | n/a | n/a |
12 | BHLHE40 | chr8:47528443-47529576 | K562 | blood: | n/a | chr8:47528874-47528890 chr8:47529336-47529352 |
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 | chr8:47528797-47529481 | K562 | blood: | n/a | n/a |
18 | CCNT2 | chr8:47432567-47432751 | K562 | blood: | n/a | n/a |
19 | CEBPB | chr8:47506841-47507041 | K562 | blood: | n/a | chr8:47506900-47506917 |
20 | CEBPB | chr8:47554849-47555188 | MCF-7 | breast: | n/a | n/a |
21 | CEBPB | chr8:47491043-47491262 | K562 | blood: | n/a | chr8:47491158-47491169 |
22 | CEBPB | chr8:47547945-47548304 | A549 | lung: | n/a | n/a |
23 | CEBPB | chr8:47214532-47214751 | HepG2 | liver: | n/a | chr8:47214612-47214623 |
24 | CEBPB | chr8:47374798-47374997 | HepG2 | liver: | n/a | n/a |
25 | CEBPB | chr8:47333483-47333514 | K562 | blood: | n/a | n/a |
26 | CEBPB | chr8:47529169-47529350 | K562 | blood: | n/a | n/a |
27 | CEBPB | chr8:47549465-47550234 | IMR90 | lung: | n/a | n/a |
28 | CEBPB | chr8:47364275-47364616 | Hela-S3 | cervix: | n/a | chr8:47364437-47364448 |
29 | CEBPB | chr8:47364254-47364630 | K562 | blood: | n/a | chr8:47364437-47364448 |
30 | CEBPB | chr8:47144487-47144545 | K562 | blood: | n/a | n/a |
31 | CEBPB | chr8:47554891-47555151 | K562 | blood: | n/a | n/a |
32 | CEBPB | chr8:47374691-47375010 | IMR90 | lung: | n/a | n/a |
33 | CEBPB | chr8:47364252-47364625 | HepG2 | liver: | n/a | chr8:47364437-47364448 |
34 | CEBPB | chr8:47529077-47529452 | K562 | blood: | n/a | n/a |
35 | CEBPB | chr8:47552473-47553612 | HepG2 | liver: | n/a | n/a |
36 | CEBPB | chr8:47363627-47363881 | HepG2 | liver: | n/a | chr8:47363750-47363761 |
37 | CEBPB | chr8:47323416-47323702 | A549 | lung: | n/a | n/a |
38 | CEBPB | chr8:47549830-47550230 | MCF-7 | breast: | n/a | n/a |
39 | CEBPB | chr8:47550037-47550193 | K562 | blood: | n/a | n/a |
40 | CEBPB | chr8:47072394-47072659 | HepG2 | liver: | n/a | chr8:47072498-47072509 |
41 | CEBPB | chr8:47529068-47529484 | K562 | blood: | n/a | n/a |
42 | CEBPB | chr8:47552480-47553588 | A549 | lung: | n/a | n/a |
43 | CEBPB | chr8:47529073-47529534 | MCF-7 | breast: | n/a | n/a |
44 | CEBPB | chr8:47534171-47534437 | A549 | lung: | n/a | n/a |
45 | CEBPB | chr8:47364240-47364634 | MCF-7 | breast: | n/a | chr8:47364437-47364448 |
46 | CEBPB | chr8:47495566-47495807 | HepG2 | liver: | n/a | n/a |
47 | CEBPB | chr8:47057114-47057285 | K562 | blood: | n/a | n/a |
48 | CEBPB | chr8:47546537-47546824 | A549 | lung: | n/a | chr8:47546682-47546693 |
49 | CEBPB | chr8:47374682-47375049 | MCF-7 | breast: | n/a | n/a |
50 | CEBPB | chr8:47368428-47368796 | H1-hESC | embryonic stem cell: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:47109229-47109279 | PrEC | prostate: | n/a |
2 | chr8:47120700-47120750 | PrEC | prostate: | n/a |
3 | chr8:47348070-47348120 | SK-N-SH_RA | brain: | n/a |
4 | chr8:47109229-47109279 | PrEC | prostate: | n/a |
5 | chr8:47120700-47120750 | PrEC | prostate: | n/a |
6 | chr8:47348070-47348120 | SK-N-SH_RA | brain: | n/a |
7 | chr8:47093117-47093167 | SK-N-SH | brain: | n/a |
8 | chr8:47156687-47156737 | HRE | kidney: | n/a |
9 | chr8:47144363-47144413 | NT2-D1 | testis: | n/a |
10 | chr8:47160997-47161047 | SK-N-SH_RA | brain: | n/a |
11 | chr8:47529015-47529065 | SK-N-SH_RA | brain: | n/a |
12 | chr8:47109229-47109279 | AG10803 | skin: | n/a |
13 | chr8:47120700-47120750 | HCPEpiC | choroid plexus: | n/a |
14 | chr8:47318649-47318699 | K562 | blood: | n/a |
15 | chr8:47529280-47529330 | GM12892 | blood: | n/a |
16 | chr8:47174057-47174107 | Hela-S3 | cervix: | n/a |
17 | chr8:47057504-47057554 | NT2-D1 | testis: | n/a |
18 | chr8:47109311-47109361 | Hepatocyte | liver: | n/a |
19 | chr8:47344447-47344497 | SAEC | small airway: | n/a |
20 | chr8:47046101-47046151 | Caco-2 | colon: | n/a |
21 | chr8:47526309-47526359 | ECC-1 | luminal epithelium: | n/a |
22 | chr8:47108770-47108820 | PrEC | prostate: | n/a |
23 | chr8:47109229-47109279 | HEK293 | kidney: | embryo |
24 | chr8:47529015-47529065 | Jurkat | blood: | n/a |
25 | chr8:47165887-47165937 | SAEC | small airway: | n/a |
26 | chr8:47109311-47109361 | HAEpiC | amniotic membrane: | n/a |
27 | chr8:47165887-47165937 | GM12878 | blood: | n/a |
28 | chr8:47142166-47142216 | ovcar-3 | ovarian: | n/a |
29 | chr8:47119035-47119085 | A549 | lung: | n/a |
30 | chr8:47174057-47174107 | GM12892 | blood: | n/a |
31 | chr8:47144915-47144965 | BE2_C | brain: | n/a |
32 | chr8:47165466-47165516 | SK-N-SH | brain: | n/a |
33 | chr8:47165466-47165516 | H1-hESC | embryonic stem cell: | embryo |
34 | chr8:47108953-47109003 | GM12892 | blood: | n/a |
35 | chr8:47108770-47108820 | HepG2 | liver: | n/a |
36 | chr8:47318649-47318699 | AG09309 | skin: | n/a |
37 | chr8:47142089-47142139 | GM19239 | blood: | n/a |
38 | chr8:47165292-47165342 | HIPEpiC | eye: | n/a |
39 | chr8:47348339-47348389 | SKMC | muscle: | n/a |
40 | chr8:47318832-47318882 | NT2-D1 | testis: | n/a |
41 | chr8:47057471-47057521 | CMK | blood: | n/a |
42 | chr8:47160997-47161047 | SK-N-MC | brain: | n/a |
43 | chr8:47529015-47529065 | HEK293 | kidney: | embryo |
44 | chr8:47112438-47112488 | SK-N-MC | brain: | n/a |
45 | chr8:47347811-47347861 | AG09319 | gingival: | n/a |
46 | chr8:47318883-47318933 | HEK293 | kidney: | embryo |
47 | chr8:47092995-47093045 | SK-N-SH | brain: | n/a |
48 | chr8:47318907-47318957 | BJ | skin: | n/a |
49 | chr8:47347811-47347861 | H1-hESC | embryonic stem cell: | embryo |
50 | chr8:47160830-47160880 | HIPEpiC | eye: | n/a |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr19:35614212..35616054-chr8:47337776..47339296,2 | MCF-7 | breast: | |
2 | chr8:47103663..47106274-chr8:47108285..47110930,2 | K562 | blood: | |
3 | chr7:97501587..97502366-chr8:47529051..47529557,3 | HCT-116 | colon: | |
4 | chr8:47515437..47518605-chr8:47528973..47530959,3 | K562 | blood: | |
5 | chr8:46940855..46941726-chr8:47130252..47130754,2 | K562 | blood: | |
6 | chr8:47512649..47514644-chr8:47529072..47530746,2 | K562 | blood: | |
7 | chr8:46940678..46941746-chr8:47130003..47131748,8 | MCF-7 | breast: | |
8 | chr8:47144016..47144925-chr8:47484500..47485152,3 | MCF-7 | breast: | |
9 | chr8:47152207..47152786-chr8:47399264..47399945,2 | MCF-7 | breast: | |
10 | chr8:47506585..47508657-chr8:47510206..47513067,2 | K562 | blood: | |
11 | chr8:47168205..47168775-chr8:47479656..47480472,2 | MCF-7 | breast: | |
12 | chr8:47491632..47493538-chr8:47505350..47507971,2 | K562 | blood: | |
13 | chr8:47484279..47485112-chr8:47579488..47580411,3 | MCF-7 | breast: | |
14 | chr8:47144016..47144925-chr8:47484500..47485152,3 | MCF-7 | breast: | |
15 | chr2:86830620..86831120-chr8:47284541..47285069,2 | MCF-7 | breast: | |
16 | chr8:47487702..47490248-chr8:47515594..47517867,2 | K562 | blood: | |
17 | chr8:47487702..47490248-chr8:47515594..47517867,2 | K562 | blood: | |
18 | chr8:47152207..47152786-chr8:47399264..47399945,2 | MCF-7 | breast: | |
19 | chr8:47491632..47493538-chr8:47505350..47507971,2 | K562 | blood: | |
20 | chr7:97495363..97496869-chr8:47517938..47519464,2 | K562 | blood: | |
21 | chr8:46850638..46851140-chr8:47405865..47406365,2 | MCF-7 | breast: | |
22 | chr8:47506585..47508657-chr8:47510206..47513067,2 | K562 | blood: | |
23 | chr8:47103663..47106274-chr8:47108285..47110930,2 | K562 | blood: | |
24 | chr8:47517410..47521817-chr8:47524226..47528650,6 | K562 | blood: | |
25 | chr8:47168205..47168775-chr8:47479656..47480472,2 | MCF-7 | breast: | |
26 | chr8:47512649..47514644-chr8:47529072..47530746,2 | K562 | blood: | |
27 | chr8:47059851..47061946-chr8:47064644..47066356,2 | MCF-7 | breast: | |
28 | chr8:47059851..47061946-chr8:47064644..47066356,2 | MCF-7 | breast: | |
29 | chr8:47519082..47521588-chr8:47524616..47530066,4 | K562 | blood: | |
30 | chr8:47528106..47530039-chr8:47536064..47537656,2 | MCF-7 | breast: | |
31 | chr8:47515437..47518605-chr8:47528973..47530959,3 | K562 | blood: | |
32 | chr8:47528106..47530039-chr8:47536064..47537656,2 | MCF-7 | breast: | |
33 | chr8:47524927..47529861-chr8:47530508..47536088,6 | K562 | blood: |
(count:2 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-LINC00293-4 | chr8:47462233-47462424 | NONHSAT126406 |
2 | lnc-LINC00293-4 | chr8:47460711-47460990 | NONHSAT126406 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000255915 | TF binding region |
HSPA8P13 | TF binding region |
ASNSP1 | TF binding region |
ENSG00000255915 | CpG island |
HSPA8P13 | CpG island |
ASNSP1 | CpG island |
ENSG00000070669 | chromatin interactions |
ENSG00000248498 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs375363230 | chr8:47036704-47036705 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs367636714 | chr8:47036705-47036706 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs545274643 | chr8:47036777-47036778 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs189704321 | chr8:47036782-47036783 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs201264081 | chr8:47036788-47036789 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs527454328 | chr8:47036800-47036801 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs376859428 | chr8:47036811-47036812 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs144410616 | chr8:47036817-47036818 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs560609820 | chr8:47036840-47036841 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs148791870 | chr8:47036841-47036842 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs549511990 | chr8:47036855-47036856 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs569299388 | chr8:47036892-47036893 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs532044478 | chr8:47036893-47036894 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs578126346 | chr8:47036895-47036896 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs182325179 | chr8:47036970-47036971 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs142430395 | chr8:47036988-47036989 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs151298542 | chr8:47036989-47036990 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs538261560 | chr8:47036994-47036995 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs149768342 | chr8:47036996-47036997 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs536737114 | chr8:47037003-47037004 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs187689052 | chr8:47037086-47037087 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs576486039 | chr8:47037180-47037181 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs545095103 | chr8:47037193-47037194 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs563791359 | chr8:47037194-47037195 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs558782115 | chr8:47037217-47037218 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs558391224 | chr8:47037218-47037219 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs369069687 | chr8:47037249-47037250 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs560746595 | chr8:47037300-47037301 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs115517692 | chr8:47037322-47037323 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs542661055 | chr8:47037346-47037347 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs559993170 | chr8:47037374-47037375 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs114472770 | chr8:47037386-47037387 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs563069446 | chr8:47037387-47037388 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs377334640 | chr8:47037395-47037396 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs201950449 | chr8:47037396-47037397 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs34621123 | chr8:47037410-47037411 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
37 | rs201225685 | chr8:47037411-47037412 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
38 | rs75261208 | chr8:47037441-47037442 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
39 | rs139657061 | chr8:47037467-47037468 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
40 | rs191222109 | chr8:47037481-47037482 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
41 | rs565165142 | chr8:47037507-47037508 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
42 | rs574321206 | chr8:47037532-47037533 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
43 | rs144298358 | chr8:47037581-47037582 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
44 | rs6988138 | chr8:47037584-47037585 | Enhancers Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
45 | rs77160558 | chr8:47037608-47037609 | Enhancers Flanking Active TSS Active TSS | n/a | n/a | Overlapped CNVs | n/a |
46 | rs556667241 | chr8:47037615-47037616 | Enhancers Flanking Active TSS Active TSS | n/a | n/a | Overlapped CNVs | n/a |
47 | rs570068982 | chr8:47037641-47037642 | Enhancers Flanking Active TSS Active TSS | n/a | n/a | Overlapped CNVs | n/a |
48 | rs183638027 | chr8:47037692-47037693 | Enhancers Flanking Active TSS Active TSS | n/a | n/a | Overlapped CNVs | n/a |
49 | rs549424330 | chr8:47037693-47037694 | Enhancers Flanking Active TSS Active TSS | n/a | n/a | Overlapped CNVs | n/a |
50 | rs115212726 | chr8:47037698-47037699 | Enhancers Flanking Active TSS Active TSS | 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 |
Acute myeloid leukemia | 20729466 | 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 | 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 |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:47034000-47038200 | Enhancers | Ovary | ovary |
2 | chr8:47034200-47037600 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
3 | chr8:47034800-47036800 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
4 | chr8:47034800-47037200 | Enhancers | Skeletal Muscle Male | skeletal muscle |
5 | chr8:47034800-47037200 | Enhancers | Skeletal Muscle Female | skeletal muscle |
6 | chr8:47035000-47036800 | Weak transcription | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
7 | chr8:47035200-47037000 | Weak transcription | Spleen | Spleen |
8 | chr8:47036200-47038600 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
9 | chr8:47036800-47037800 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
10 | chr8:47036800-47037800 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
11 | chr8:47037000-47037200 | Enhancers | Spleen | Spleen |
12 | chr8:47037000-47037400 | Enhancers | Hela-S3 | cervix |
13 | chr8:47037000-47037400 | Enhancers | Osteobl | bone |
14 | chr8:47037000-47037600 | Enhancers | Stomach Smooth Muscle | stomach |
15 | chr8:47037000-47038400 | Enhancers | Stomach Mucosa | stomach |
16 | chr8:47037400-47037800 | Active TSS | Hela-S3 | cervix |
17 | chr8:47037600-47037800 | Flanking Active TSS | Stomach Smooth Muscle | stomach |
18 | chr8:47038200-47038600 | Active TSS | Ovary | ovary |
19 | chr8:47038600-47039200 | Enhancers | Ovary | ovary |
20 | chr8:47039200-47064400 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
21 | chr8:47041200-47043800 | ZNF genes & repeats | Foreskin Melanocyte Primary Cells skin01 | Skin |
22 | chr8:47041400-47041600 | ZNF genes & repeats | Brain Germinal Matrix | brain |
23 | chr8:47042000-47043400 | ZNF genes & repeats | Fetal Stomach | stomach |
24 | chr8:47046000-47063000 | ZNF genes & repeats | Foreskin Melanocyte Primary Cells skin01 | Skin |
25 | chr8:47049200-47061200 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
26 | chr8:47050200-47050400 | ZNF genes & repeats | Cortex derived primary cultured neurospheres | brain |
27 | chr8:47050400-47050600 | ZNF genes & repeats | Foreskin Fibroblast Primary Cells skin02 | Skin |
28 | chr8:47053400-47056400 | ZNF genes & repeats | Foreskin Fibroblast Primary Cells skin02 | Skin |
29 | chr8:47055200-47063400 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
30 | chr8:47058000-47060000 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
31 | chr8:47058800-47060400 | ZNF genes & repeats | Foreskin Fibroblast Primary Cells skin02 | Skin |
32 | chr8:47059600-47059800 | ZNF genes & repeats | Fetal Brain Female | brain |
33 | chr8:47066200-47076000 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
34 | chr8:47076200-47078200 | ZNF genes & repeats | Liver | Liver |
35 | chr8:47076800-47078600 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
36 | chr8:47078800-47079000 | ZNF genes & repeats | Breast Myoepithelial Primary Cells | Breast |
37 | chr8:47080800-47084400 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
38 | chr8:47081200-47087600 | ZNF genes & repeats | Breast Myoepithelial Primary Cells | Breast |
39 | chr8:47084000-47084400 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
40 | chr8:47084600-47085000 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
41 | chr8:47085400-47085600 | ZNF genes & repeats | Monocytes-CD14+_RO01746 | blood |
42 | chr8:47086400-47088800 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
43 | chr8:47086400-47091600 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
44 | chr8:47086400-47175600 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
45 | chr8:47087600-47090200 | Strong transcription | Breast Myoepithelial Primary Cells | Breast |
46 | chr8:47090200-47093400 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
47 | chr8:47093400-47094000 | Strong transcription | Breast Myoepithelial Primary Cells | Breast |
48 | chr8:47093600-47104400 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
49 | chr8:47094000-47095200 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
50 | chr8:47095000-47095200 | ZNF genes & repeats | Foreskin Melanocyte Primary Cells skin01 | Skin |