Variant report
Variant | esv1826045 |
---|---|
Chromosome Location | chr5:17517749-17655744 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1778)
- CpG islands (count:978)
- 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 | chr5:17526839-17526866 | K562 | blood: | n/a | n/a |
2 | ARID3A | chr5:17517830-17517852 | 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 | chr5:17581121-17581401 | GM12878 | blood: | n/a | n/a |
7 | BATF | chr5:17599390-17599669 | GM12878 | blood: | n/a | n/a |
8 | BATF | chr5:17581407-17582352 | GM12878 | blood: | n/a | n/a |
9 | BATF | chr5:17586875-17587277 | GM12878 | blood: | n/a | n/a |
10 | BATF | chr5:17595225-17595440 | GM12878 | blood: | n/a | n/a |
11 | BATF | chr5:17528689-17530680 | GM12878 | blood: | n/a | n/a |
12 | BATF | chr5:17525250-17527716 | GM12878 | blood: | n/a | n/a |
13 | BATF | chr5:17525255-17528049 | GM12878 | blood: | n/a | n/a |
14 | BATF | chr5:17586589-17586869 | GM12878 | blood: | n/a | n/a |
15 | BATF | chr5:17633787-17633984 | GM12878 | blood: | n/a | n/a |
16 | BATF | chr5:17588662-17591030 | GM12878 | blood: | n/a | n/a |
17 | BATF | chr5:17527729-17528285 | GM12878 | blood: | n/a | n/a |
18 | BATF | chr5:17595471-17597904 | GM12878 | blood: | n/a | n/a |
19 | BATF | chr5:17632982-17633256 | GM12878 | blood: | n/a | n/a |
20 | BATF | chr5:17581436-17582365 | GM12878 | blood: | n/a | n/a |
21 | BATF | chr5:17588661-17591031 | GM12878 | blood: | n/a | n/a |
22 | BATF | chr5:17586894-17587691 | GM12878 | blood: | n/a | n/a |
23 | BATF | chr5:17521821-17524301 | GM12878 | blood: | n/a | n/a |
24 | BATF | chr5:17595045-17595501 | GM12878 | blood: | n/a | n/a |
25 | BATF | chr5:17595530-17597898 | GM12878 | blood: | n/a | n/a |
26 | BATF | chr5:17633718-17634065 | GM12878 | blood: | n/a | n/a |
27 | BATF | chr5:17520861-17521352 | GM12878 | blood: | n/a | n/a |
28 | BATF | chr5:17599128-17599665 | GM12878 | blood: | n/a | n/a |
29 | BATF | chr5:17632734-17632883 | GM12878 | blood: | n/a | n/a |
30 | BATF | chr5:17528684-17530686 | GM12878 | blood: | n/a | n/a |
31 | BATF | chr5:17583178-17585829 | GM12878 | blood: | n/a | n/a |
32 | BATF | chr5:17632271-17632495 | GM12878 | blood: | n/a | n/a |
33 | BATF | chr5:17592098-17594464 | GM12878 | blood: | n/a | n/a |
34 | BATF | chr5:17591806-17592083 | GM12878 | blood: | n/a | n/a |
35 | BATF | chr5:17591814-17594470 | GM12878 | blood: | n/a | n/a |
36 | BATF | chr5:17583462-17585828 | GM12878 | blood: | n/a | n/a |
37 | BATF | chr5:17518387-17521181 | GM12878 | blood: | n/a | n/a |
38 | BATF | chr5:17587321-17587686 | GM12878 | blood: | n/a | n/a |
39 | BATF | chr5:17580902-17581080 | GM12878 | blood: | n/a | n/a |
40 | BATF | chr5:17588377-17588634 | GM12878 | blood: | n/a | n/a |
41 | BATF | chr5:17518382-17520848 | GM12878 | blood: | n/a | n/a |
42 | BATF | chr5:17521816-17524282 | GM12878 | blood: | n/a | n/a |
43 | BATF | chr5:17633076-17633247 | GM12878 | blood: | n/a | n/a |
44 | BATF | chr5:17581115-17581413 | GM12878 | blood: | n/a | n/a |
45 | BATF | chr5:17588369-17588646 | GM12878 | blood: | n/a | n/a |
46 | BATF | chr5:17586583-17586881 | GM12878 | blood: | n/a | n/a |
47 | BATF | chr5:17524295-17524851 | GM12878 | blood: | n/a | n/a |
48 | BATF | chr5:17583170-17583447 | GM12878 | blood: | n/a | n/a |
49 | BATF | chr5:17524307-17524569 | GM12878 | blood: | n/a | n/a |
50 | BATF | chr5:17631481-17631659 | GM12878 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:17632043-17632093 | BE2_C | brain: | n/a |
2 | chr5:17631696-17631746 | HAEpiC | amniotic membrane: | n/a |
3 | chr5:17632043-17632093 | BE2_C | brain: | n/a |
4 | chr5:17631696-17631746 | HAEpiC | amniotic membrane: | n/a |
5 | chr5:17524561-17524611 | HIPEpiC | eye: | n/a |
6 | chr5:17632536-17632586 | U87 | brain: | n/a |
7 | chr5:17528991-17529041 | BE2_C | brain: | n/a |
8 | chr5:17632536-17632586 | HCT-116 | colon: | n/a |
9 | chr5:17524561-17524611 | HRE | kidney: | n/a |
10 | chr5:17527430-17527480 | PANC-1 | pancreas: | n/a |
11 | chr5:17524561-17524611 | HCF | heart: | n/a |
12 | chr5:17524561-17524611 | AG04450 | lung: | fetal |
13 | chr5:17633640-17633690 | HEEpiC | esophagus: | n/a |
14 | chr5:17527430-17527480 | ECC-1 | luminal epithelium: | n/a |
15 | chr5:17524561-17524611 | NT2-D1 | testis: | n/a |
16 | chr5:17634462-17634512 | AG04450 | lung: | fetal |
17 | chr5:17580826-17580876 | HEK293 | kidney: | embryo |
18 | chr5:17604867-17604917 | ECC-1 | luminal epithelium: | n/a |
19 | chr5:17522582-17522632 | GM06990 | blood: | n/a |
20 | chr5:17604867-17604917 | SK-N-SH | brain: | n/a |
21 | chr5:17524561-17524611 | HepG2 | liver: | n/a |
22 | chr5:17604867-17604917 | HRE | kidney: | n/a |
23 | chr5:17634462-17634512 | U87 | brain: | n/a |
24 | chr5:17632536-17632586 | AG04449 | skin: | fetal |
25 | chr5:17528991-17529041 | NB4 | blood: | n/a |
26 | chr5:17604867-17604917 | AG09319 | gingival: | n/a |
27 | chr5:17528991-17529041 | NT2-D1 | testis: | n/a |
28 | chr5:17632536-17632586 | CMK | blood: | n/a |
29 | chr5:17633640-17633690 | AG09319 | gingival: | n/a |
30 | chr5:17604867-17604917 | HepG2 | liver: | n/a |
31 | chr5:17631696-17631746 | HEK293 | kidney: | embryo |
32 | chr5:17527430-17527480 | HRE | kidney: | n/a |
33 | chr5:17633640-17633690 | NB4 | blood: | n/a |
34 | chr5:17632536-17632586 | HEK293 | kidney: | embryo |
35 | chr5:17527430-17527480 | RPTEC | kidney: | n/a |
36 | chr5:17655356-17655406 | U87 | brain: | n/a |
37 | chr5:17528991-17529041 | AG04449 | skin: | fetal |
38 | chr5:17595441-17595491 | AoSMC | blood vessel: | n/a |
39 | chr5:17595441-17595491 | HMEC | breast: | n/a |
40 | chr5:17631696-17631746 | NB4 | blood: | n/a |
41 | chr5:17634462-17634512 | HCM | heart: | n/a |
42 | chr5:17632557-17632607 | LNCaP | prostate: | n/a |
43 | chr5:17654594-17654644 | NHDF-neo | bronchial: | n/a |
44 | chr5:17519013-17519063 | GM19239 | blood: | n/a |
45 | chr5:17633640-17633690 | BJ | skin: | n/a |
46 | chr5:17524561-17524611 | PANC-1 | pancreas: | n/a |
47 | chr5:17595441-17595491 | HRCEpiC | kidney: | n/a |
48 | chr5:17522582-17522632 | HRPEpiC | eye: | n/a |
49 | chr5:17524561-17524611 | GM19239 | blood: | n/a |
50 | chr5:17632557-17632607 | BJ | skin: | 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-MYO10-19 | chr5:17654482-17654752 | NONHSAT100661 |
2 | lnc-MYO10-17 | chr5:17643071-17643337 | NONHSAT100659 |
3 | lnc-MYO10-12 | chr5:17587399-17587632 | NONHSAT100653 |
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 |
ENSG00000269466 | 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 |
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 |
ENSG00000269466 | 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 |
ENSG00000176788 | chromatin interactions |
ENSG00000250782 | chromatin interactions |
ENSG00000248542 | chromatin interactions |
ENSG00000248471 | chromatin interactions |
ENSG00000215196 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs13188529 | chr5:17517775-17517776 | ZNF genes & repeats Flanking Active TSS Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
2 | rs4702218 | chr5:17517784-17517785 | ZNF genes & repeats Flanking Active TSS Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
3 | rs573403302 | chr5:17517786-17517787 | ZNF genes & repeats Flanking Active TSS Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
4 | rs375911436 | chr5:17517821-17517822 | ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
5 | rs111772563 | chr5:17517826-17517827 | ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
6 | rs370343674 | chr5:17517827-17517828 | ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
7 | rs13188826 | chr5:17517844-17517845 | ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
8 | rs75116303 | chr5:17517863-17517864 | ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
9 | rs374037626 | chr5:17517869-17517870 | ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
10 | rs539233638 | chr5:17517891-17517892 | ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
11 | rs112998610 | chr5:17517933-17517934 | ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
12 | rs376112455 | chr5:17518012-17518013 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
13 | rs371349646 | chr5:17518075-17518076 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
14 | rs181161771 | chr5:17518126-17518127 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
15 | rs559237207 | chr5:17518192-17518193 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
16 | rs201613618 | chr5:17518201-17518202 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
17 | rs180986036 | chr5:17518919-17518920 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs575920637 | chr5:17518977-17518978 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs185067451 | chr5:17518978-17518979 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs111526792 | chr5:17519080-17519081 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs74511638 | chr5:17519512-17519513 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs62348813 | chr5:17519599-17519600 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs371328624 | chr5:17519767-17519768 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs151187269 | chr5:17519776-17519777 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs544875096 | chr5:17519782-17519783 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs112748271 | chr5:17519805-17519806 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs367745967 | chr5:17519822-17519823 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs186660431 | chr5:17519845-17519846 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs191935977 | chr5:17519851-17519852 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs71247310 | chr5:17519909-17519910 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs138785527 | chr5:17519985-17519986 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs561447854 | chr5:17519989-17519990 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs573549007 | chr5:17519991-17519992 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs201305351 | chr5:17520017-17520018 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs201906470 | chr5:17520020-17520021 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs35984989 | chr5:17520060-17520061 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs542288724 | chr5:17520063-17520064 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs200160812 | chr5:17520160-17520161 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs373766974 | chr5:17520189-17520190 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs200766430 | chr5:17520321-17520322 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs76831175 | chr5:17520332-17520333 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs201753474 | chr5:17520336-17520337 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs148425753 | chr5:17520359-17520360 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
44 | rs372578560 | chr5:17520364-17520365 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
45 | rs75900489 | chr5:17520367-17520368 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
46 | rs200317584 | chr5:17520380-17520381 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
47 | rs77554971 | chr5:17520381-17520382 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
48 | rs370174612 | chr5:17520384-17520385 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
49 | rs112803174 | chr5:17520415-17520416 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
50 | rs373511177 | chr5:17520588-17520589 | Inactive region | TF binding region | 2 gene(s) | 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 | chr5:17512600-17519400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
2 | chr5:17517600-17518000 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
3 | chr5:17517600-17518000 | Flanking Active TSS | H1 Derived Mesenchymal Stem Cells | ES cell derived |
4 | chr5:17517800-17518000 | ZNF genes & repeats | Duodenum Mucosa | Duodenum |
5 | chr5:17517800-17518000 | Flanking Bivalent TSS/Enh | Lung | lung |
6 | chr5:17517800-17518000 | Flanking Bivalent TSS/Enh | Right Ventricle | heart |
7 | chr5:17517800-17518000 | Bivalent/Poised TSS | Small Intestine | intestine |
8 | chr5:17517800-17518000 | Bivalent/Poised TSS | Hela-S3 | cervix |
9 | chr5:17526600-17527000 | Bivalent Enhancer | H9 Cell Line | embryonic stem cell |
10 | chr5:17526600-17527000 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
11 | chr5:17526600-17527000 | Active TSS | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
12 | chr5:17526600-17527000 | ZNF genes & repeats | Brain Substantia Nigra | brain |
13 | chr5:17526800-17527000 | Bivalent Enhancer | Small Intestine | intestine |
14 | chr5:17593600-17598800 | Weak transcription | Brain Dorsolateral Prefrontal Cortex | brain |
15 | chr5:17604200-17604600 | Enhancers | Lung | lung |
16 | chr5:17604200-17604600 | Enhancers | Hela-S3 | cervix |
17 | chr5:17607400-17607600 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
18 | chr5:17616600-17616800 | ZNF genes & repeats | Brain Hippocampus Middle | brain |
19 | chr5:17619200-17620600 | Enhancers | Hela-S3 | cervix |
20 | chr5:17620600-17621000 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
21 | chr5:17639200-17640000 | Enhancers | Liver | Liver |
22 | chr5:17652200-17652400 | Enhancers | HSMM | muscle |