Variant report
Variant | nsv1017229 |
---|---|
Chromosome Location | chr5:17513394-17655339 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1768)
- CpG islands (count:976)
- Chromatin interactive region (count:4)
- LncRNA region (count:3)
- 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 | chr5:17517830-17517852 | K562 | blood: | n/a | n/a |
2 | ARID3A | chr5:17526839-17526866 | K562 | blood: | n/a | n/a |
3 | ATF1 | chr5:17517811-17517870 | K562 | blood: | n/a | n/a |
4 | ATF3 | chr5:17517759-17517894 | K562 | blood: | n/a | n/a |
5 | BACH1 | chr5:17526845-17526876 | K562 | blood: | n/a | n/a |
6 | BATF | chr5:17581407-17582352 | GM12878 | blood: | n/a | n/a |
7 | BATF | chr5:17631481-17631659 | GM12878 | blood: | n/a | n/a |
8 | BATF | chr5:17588369-17588646 | GM12878 | blood: | n/a | n/a |
9 | BATF | chr5:17591806-17592083 | GM12878 | blood: | n/a | n/a |
10 | BATF | chr5:17583178-17585829 | GM12878 | blood: | n/a | n/a |
11 | BATF | chr5:17518387-17521181 | GM12878 | blood: | n/a | n/a |
12 | BATF | chr5:17525250-17527716 | GM12878 | blood: | n/a | n/a |
13 | BATF | chr5:17586875-17587277 | GM12878 | blood: | n/a | n/a |
14 | BATF | chr5:17524295-17524851 | GM12878 | blood: | n/a | n/a |
15 | BATF | chr5:17592098-17594464 | GM12878 | blood: | n/a | n/a |
16 | BATF | chr5:17595225-17595440 | GM12878 | blood: | n/a | n/a |
17 | BATF | chr5:17583462-17585828 | GM12878 | blood: | n/a | n/a |
18 | BATF | chr5:17599128-17599665 | GM12878 | blood: | n/a | n/a |
19 | BATF | chr5:17632271-17632495 | GM12878 | blood: | n/a | n/a |
20 | BATF | chr5:17524307-17524569 | GM12878 | blood: | n/a | n/a |
21 | BATF | chr5:17632982-17633256 | GM12878 | blood: | n/a | n/a |
22 | BATF | chr5:17633718-17634065 | GM12878 | blood: | n/a | n/a |
23 | BATF | chr5:17633076-17633247 | GM12878 | blood: | n/a | n/a |
24 | BATF | chr5:17586589-17586869 | GM12878 | blood: | n/a | n/a |
25 | BATF | chr5:17632734-17632883 | GM12878 | blood: | n/a | n/a |
26 | BATF | chr5:17581436-17582365 | GM12878 | blood: | n/a | n/a |
27 | BATF | chr5:17521821-17524301 | GM12878 | blood: | n/a | n/a |
28 | BATF | chr5:17521816-17524282 | GM12878 | blood: | n/a | n/a |
29 | BATF | chr5:17588661-17591031 | GM12878 | blood: | n/a | n/a |
30 | BATF | chr5:17591814-17594470 | GM12878 | blood: | n/a | n/a |
31 | BATF | chr5:17588662-17591030 | GM12878 | blood: | n/a | n/a |
32 | BATF | chr5:17586894-17587691 | GM12878 | blood: | n/a | n/a |
33 | BATF | chr5:17588377-17588634 | GM12878 | blood: | n/a | n/a |
34 | BATF | chr5:17528684-17530686 | GM12878 | blood: | n/a | n/a |
35 | BATF | chr5:17581115-17581413 | GM12878 | blood: | n/a | n/a |
36 | BATF | chr5:17587321-17587686 | GM12878 | blood: | n/a | n/a |
37 | BATF | chr5:17518382-17520848 | GM12878 | blood: | n/a | n/a |
38 | BATF | chr5:17595045-17595501 | GM12878 | blood: | n/a | n/a |
39 | BATF | chr5:17633787-17633984 | GM12878 | blood: | n/a | n/a |
40 | BATF | chr5:17599390-17599669 | GM12878 | blood: | n/a | n/a |
41 | BATF | chr5:17527729-17528285 | GM12878 | blood: | n/a | n/a |
42 | BATF | chr5:17595471-17597904 | GM12878 | blood: | n/a | n/a |
43 | BATF | chr5:17595530-17597898 | GM12878 | blood: | n/a | n/a |
44 | BATF | chr5:17520861-17521352 | GM12878 | blood: | n/a | n/a |
45 | BATF | chr5:17528689-17530680 | GM12878 | blood: | n/a | n/a |
46 | BATF | chr5:17525255-17528049 | GM12878 | blood: | n/a | n/a |
47 | BATF | chr5:17586583-17586881 | GM12878 | blood: | n/a | n/a |
48 | BATF | chr5:17580902-17581080 | GM12878 | blood: | n/a | n/a |
49 | BATF | chr5:17583170-17583447 | GM12878 | blood: | n/a | n/a |
50 | BATF | chr5:17581121-17581401 | GM12878 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:17632043-17632093 | MCF-7 | breast: | n/a |
2 | chr5:17522582-17522632 | GM06990 | blood: | n/a |
3 | chr5:17632536-17632586 | HCPEpiC | choroid plexus: | n/a |
4 | chr5:17604867-17604917 | Hepatocyte | liver: | n/a |
5 | chr5:17632536-17632586 | HL-60 | blood: | n/a |
6 | chr5:17604867-17604917 | HAEpiC | amniotic membrane: | n/a |
7 | chr5:17632557-17632607 | HPAEpiC | pulmonary alveolar: | n/a |
8 | chr5:17632043-17632093 | NHBE | bronchial: | n/a |
9 | chr5:17604867-17604917 | ECC-1 | luminal epithelium: | n/a |
10 | chr5:17524561-17524611 | HCF | heart: | n/a |
11 | chr5:17527430-17527480 | HCPEpiC | choroid plexus: | n/a |
12 | chr5:17595441-17595491 | PFSK-1 | brain: | n/a |
13 | chr5:17517201-17517251 | H1-hESC | embryonic stem cell: | embryo |
14 | chr5:17580826-17580876 | HCPEpiC | choroid plexus: | n/a |
15 | chr5:17654594-17654644 | HCT-116 | colon: | n/a |
16 | chr5:17634462-17634512 | A549 | lung: | n/a |
17 | chr5:17654594-17654644 | H1-hESC | embryonic stem cell: | embryo |
18 | chr5:17595441-17595491 | HCT-116 | colon: | n/a |
19 | chr5:17631696-17631746 | GM12892 | blood: | n/a |
20 | chr5:17604867-17604917 | SKMC | muscle: | n/a |
21 | chr5:17634462-17634512 | AG09319 | gingival: | n/a |
22 | chr5:17632557-17632607 | ECC-1 | luminal epithelium: | n/a |
23 | chr5:17527430-17527480 | AG09309 | skin: | n/a |
24 | chr5:17632557-17632607 | GM19239 | blood: | n/a |
25 | chr5:17527430-17527480 | HL-60 | blood: | n/a |
26 | chr5:17604867-17604917 | NB4 | blood: | n/a |
27 | chr5:17580826-17580876 | HRE | kidney: | n/a |
28 | chr5:17632043-17632093 | GM12878 | blood: | n/a |
29 | chr5:17580826-17580876 | SK-N-SH | brain: | n/a |
30 | chr5:17631696-17631746 | ProgFib | skin: | n/a |
31 | chr5:17580826-17580876 | PFSK-1 | brain: | n/a |
32 | chr5:17527430-17527480 | A549 | lung: | n/a |
33 | chr5:17633640-17633690 | U87 | brain: | n/a |
34 | chr5:17633640-17633690 | SK-N-MC | brain: | n/a |
35 | chr5:17632536-17632586 | NHDF-neo | bronchial: | n/a |
36 | chr5:17632557-17632607 | SKMC | muscle: | n/a |
37 | chr5:17632536-17632586 | HAEpiC | amniotic membrane: | n/a |
38 | chr5:17631696-17631746 | PANC-1 | pancreas: | n/a |
39 | chr5:17632043-17632093 | HL-60 | blood: | n/a |
40 | chr5:17595441-17595491 | HEEpiC | esophagus: | n/a |
41 | chr5:17595441-17595491 | BE2_C | brain: | n/a |
42 | chr5:17634462-17634512 | SK-N-MC | brain: | n/a |
43 | chr5:17528991-17529041 | SK-N-SH | brain: | n/a |
44 | chr5:17654594-17654644 | ProgFib | skin: | n/a |
45 | chr5:17632536-17632586 | SK-N-SH | brain: | n/a |
46 | chr5:17632536-17632586 | PFSK-1 | brain: | n/a |
47 | chr5:17634462-17634512 | HEEpiC | esophagus: | n/a |
48 | chr5:17517201-17517251 | HRPEpiC | eye: | n/a |
49 | chr5:17632043-17632093 | SK-N-MC | brain: | n/a |
50 | chr5:17522582-17522632 | AoSMC | blood vessel: | n/a |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:17216395..17218536-chr5:17655025..17657774,2 | MCF-7 | breast: | |
2 | chr5:17635261..17638059-chr5:17641232..17643907,2 | MCF-7 | breast: | |
3 | chr5:17632983..17635813-chr5:17637711..17640599,2 | K562 | blood: | |
4 | chr5:17644806..17646667-chr5:17648582..17651312,2 | MCF-7 | breast: |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-MYO10-17 | chr5:17643071-17643337 | NONHSAT100659 |
2 | lnc-MYO10-12 | chr5:17587399-17587632 | NONHSAT100653 |
3 | lnc-MYO10-19 | chr5:17654482-17654752 | NONHSAT100661 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000248542 | TF binding region |
ENSG00000249427 | TF binding region |
ENSG00000249282 | TF binding region |
ENSG00000248861 | TF binding region |
ENSG00000250558 | TF binding region |
ENSG00000248471 | TF binding region |
ENSG00000250807 | TF binding region |
ENSG00000250296 | TF binding region |
ENSG00000250055 | TF binding region |
ENSG00000248422 | TF binding region |
ENSG00000249339 | TF binding region |
ENSG00000271296 | TF binding region |
ENSG00000250386 | TF binding region |
ENSG00000250351 | TF binding region |
ENSG00000249329 | TF binding region |
ENSG00000249666 | TF binding region |
ENSG00000249357 | TF binding region |
ENSG00000249156 | TF binding region |
ENSG00000248337 | TF binding region |
ENSG00000250088 | TF binding region |
ENSG00000248160 | TF binding region |
ENSG00000250782 | TF binding region |
ENSG00000249620 | TF binding region |
ENSG00000248542 | CpG island |
ENSG00000249427 | CpG island |
ENSG00000249282 | CpG island |
ENSG00000248861 | CpG island |
ENSG00000250558 | CpG island |
ENSG00000248471 | CpG island |
ENSG00000250807 | CpG island |
ENSG00000250296 | CpG island |
ENSG00000250055 | CpG island |
ENSG00000248422 | CpG island |
ENSG00000249339 | CpG island |
ENSG00000271296 | CpG island |
ENSG00000250386 | CpG island |
ENSG00000250351 | CpG island |
ENSG00000249329 | CpG island |
ENSG00000249666 | CpG island |
ENSG00000249357 | CpG island |
ENSG00000249156 | CpG island |
ENSG00000248337 | CpG island |
ENSG00000250088 | CpG island |
ENSG00000248160 | CpG island |
ENSG00000250782 | CpG island |
ENSG00000249620 | CpG island |
ENSG00000248471 | chromatin interactions |
ENSG00000215196 | chromatin interactions |
ENSG00000250782 | chromatin interactions |
ENSG00000176788 | chromatin interactions |
ENSG00000248542 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs2459804 | chr5:17513394-17513395 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs565615525 | chr5:17513449-17513450 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs564331487 | chr5:17513458-17513459 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs528234641 | chr5:17513472-17513473 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs368197204 | chr5:17513477-17513478 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
6 | rs571065986 | chr5:17513592-17513593 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
7 | rs536850520 | chr5:17513604-17513605 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
8 | rs556809088 | chr5:17513651-17513652 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
9 | rs567236736 | chr5:17513657-17513658 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
10 | rs181245933 | chr5:17513658-17513659 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
11 | rs553380194 | chr5:17513689-17513690 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
12 | rs186344080 | chr5:17513712-17513713 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
13 | rs573248101 | chr5:17513723-17513724 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
14 | rs546744630 | chr5:17513724-17513725 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
15 | rs190654418 | chr5:17513729-17513730 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
16 | rs145751691 | chr5:17513738-17513739 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
17 | rs544838300 | chr5:17513788-17513789 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
18 | rs561551941 | chr5:17513791-17513792 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
19 | rs372067318 | chr5:17513795-17513796 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
20 | rs182905311 | chr5:17513796-17513797 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
21 | rs542253559 | chr5:17513814-17513815 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
22 | rs186538557 | chr5:17513831-17513832 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs190946899 | chr5:17513859-17513860 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs551407223 | chr5:17513883-17513884 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs183032803 | chr5:17513894-17513895 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs552892259 | chr5:17513909-17513910 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs10213788 | chr5:17513915-17513916 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs550393195 | chr5:17513916-17513917 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs2457741 | chr5:17513965-17513966 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
30 | rs192545350 | chr5:17513975-17513976 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs546589471 | chr5:17513996-17513997 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs566812227 | chr5:17514028-17514029 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
33 | rs73756735 | chr5:17514032-17514033 | Weak transcription Enhancers | TF binding region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
34 | rs115767264 | chr5:17514040-17514041 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
35 | rs575846154 | chr5:17514053-17514054 | Weak transcription Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
36 | rs538422076 | chr5:17514066-17514067 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs374815689 | chr5:17514138-17514139 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs555246876 | chr5:17514142-17514143 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs183005235 | chr5:17514233-17514234 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs114929720 | chr5:17514303-17514304 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs560623086 | chr5:17514310-17514311 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs147852998 | chr5:17514330-17514331 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs369180613 | chr5:17514371-17514372 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs573411028 | chr5:17514377-17514378 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs115516980 | chr5:17514382-17514383 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs73756736 | chr5:17514424-17514425 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
47 | rs372731282 | chr5:17514440-17514441 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs376948836 | chr5:17514455-17514456 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs550352250 | chr5:17514459-17514460 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs539009202 | chr5:17514492-17514493 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Lung cancer | 19547694 | CNVD |
Cri-du chat syndrome | 22283845 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Non-small cell lung cancer | 20864512 | CNVD |
Cancer | 21183584 | CNVD |
Cervical squamous cell carcinoma | 21590768 | CNVD |
Honadal dysgenesis | 21048976 | CNVD |
Cancer | 16751803 | CNVD |
Breast cancer | 17133270 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Kartagener syndrome | 16639409 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Liposarcoma | 21253554 | CNVD |
Pancreatic endocrine tumor | 17639061 | CNVD |
Cervical Cancer | 21857958 | CNVD |
Cervical cancer | 21062161 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Oral cancer | 21386901 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
Cervical cancer | 18559093 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Malaria | 21533027 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Colorectal cancer | 21645411 | CNVD |
Gastric cancer | 22152101 | CNVD |
Oesophago-gastric ulcer | 22152101 | CNVD |
Ovarian cancer | 21781307 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Cancer | 20164919 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Multiple myeloma | 17550852 | CNVD |
prenatal diagnosis | 22389664 | CNVD |
Bladder cancer | 21909424 | CNVD |
DNA damage stimulus | 22844521 | CNVD |
DNA repair | 22844521 | CNVD |
Breast cancer | 21785460 | CNVD |
Spinal muscular atrophy | 22422766 | CNVD |
Spinal muscular atrophy | 22558076 | CNVD |
Spinal muscular atrophy | 21320981 | CNVD |
Spinal muscular atrophy | 21762474 | CNVD |
Breast cancer | 21858162 | CNVD |
Esophageal adenocarcinoma | 19417022 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Breast cancer | 16608533 | CNVD |
Anaplastic large cell lymphoma | 18179710 | CNVD |
Autism | 22495311 | CNVD |
Melanoma | 18172304 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Intellectual disability | 22102821 | CNVD |
Ovarian clear cell carcinoma | 19293255 | CNVD |
Williams Syndrome | 20824207 | CNVD |
Breast cancer | 21364760 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Acute lymphoblastic leukemia | 17640729 | CNVD |
Myoepithelioma | 18604193 | CNVD |
Lung cancer | 16740712 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Melanoma | 22183965 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
Prostate cancer | 21965145 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Breast cancer | 17603634 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Autism | 19287141 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:17512600-17517600 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
2 | chr5:17512600-17519400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
3 | chr5:17513600-17514600 | Enhancers | A549 | lung |
4 | chr5:17517400-17517600 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
5 | chr5:17517600-17518000 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
6 | chr5:17517600-17518000 | Flanking Active TSS | H1 Derived Mesenchymal Stem Cells | ES cell derived |
7 | chr5:17517800-17518000 | ZNF genes & repeats | Duodenum Mucosa | Duodenum |
8 | chr5:17517800-17518000 | Flanking Bivalent TSS/Enh | Lung | lung |
9 | chr5:17517800-17518000 | Flanking Bivalent TSS/Enh | Right Ventricle | heart |
10 | chr5:17517800-17518000 | Bivalent/Poised TSS | Small Intestine | intestine |
11 | chr5:17517800-17518000 | Bivalent/Poised TSS | Hela-S3 | cervix |
12 | chr5:17526600-17527000 | Bivalent Enhancer | H9 Cell Line | embryonic stem cell |
13 | chr5:17526600-17527000 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
14 | chr5:17526600-17527000 | Active TSS | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
15 | chr5:17526600-17527000 | ZNF genes & repeats | Brain Substantia Nigra | brain |
16 | chr5:17526800-17527000 | Bivalent Enhancer | Small Intestine | intestine |
17 | chr5:17593600-17598800 | Weak transcription | Brain Dorsolateral Prefrontal Cortex | brain |
18 | chr5:17604200-17604600 | Enhancers | Lung | lung |
19 | chr5:17604200-17604600 | Enhancers | Hela-S3 | cervix |
20 | chr5:17607400-17607600 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
21 | chr5:17616600-17616800 | ZNF genes & repeats | Brain Hippocampus Middle | brain |
22 | chr5:17619200-17620600 | Enhancers | Hela-S3 | cervix |
23 | chr5:17620600-17621000 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
24 | chr5:17639200-17640000 | Enhancers | Liver | Liver |
25 | chr5:17652200-17652400 | Enhancers | HSMM | muscle |