Variant report
Variant | nsv597723 |
---|---|
Chromosome Location | chr5:28806256-28855283 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:276)
- CpG islands (count:427)
- Chromatin interactive region (count:23)
- 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 | chr5:28810841-28811178 | K562 | blood: | n/a | n/a |
2 | BHLHE40 | chr5:28810355-28810693 | K562 | blood: | n/a | chr5:28810481-28810497 chr5:28810394-28810410 |
3 | BHLHE40 | chr5:28808920-28809724 | K562 | blood: | n/a | n/a |
4 | BHLHE40 | chr5:28814502-28814623 | K562 | blood: | n/a | n/a |
5 | BHLHE40 | chr5:28816335-28816476 | K562 | blood: | n/a | n/a |
6 | BRCA1 | chr5:28815213-28815234 | Hela-S3 | cervix: | n/a | n/a |
7 | CBX3 | chr5:28809015-28809399 | K562 | blood: | n/a | n/a |
8 | CBX3 | chr5:28823321-28823730 | K562 | blood: | n/a | n/a |
9 | CBX3 | chr5:28823373-28823651 | K562 | blood: | n/a | n/a |
10 | CCNT2 | chr5:28816425-28816641 | K562 | blood: | n/a | n/a |
11 | CCNT2 | chr5:28810313-28810825 | K562 | blood: | n/a | chr5:28810357-28810366 |
12 | CCNT2 | chr5:28809192-28810112 | K562 | blood: | n/a | n/a |
13 | CEBPB | chr5:28834436-28834676 | HepG2 | liver: | n/a | chr5:28834587-28834598 |
14 | CEBPB | chr5:28831177-28831503 | A549 | lung: | n/a | chr5:28831343-28831354 |
15 | CEBPB | chr5:28818678-28818966 | HepG2 | liver: | n/a | chr5:28818791-28818802 |
16 | CEBPB | chr5:28831210-28831505 | K562 | blood: | n/a | chr5:28831343-28831354 |
17 | CEBPB | chr5:28834515-28834730 | K562 | blood: | n/a | chr5:28834587-28834598 |
18 | CEBPB | chr5:28831202-28831533 | HepG2 | liver: | n/a | chr5:28831343-28831354 |
19 | CEBPB | chr5:28828802-28828896 | A549 | lung: | n/a | n/a |
20 | CEBPB | chr5:28809192-28809322 | K562 | blood: | n/a | n/a |
21 | CEBPB | chr5:28850602-28850862 | K562 | blood: | n/a | n/a |
22 | CEBPB | chr5:28831182-28831450 | H1-hESC | embryonic stem cell: | n/a | chr5:28831343-28831354 |
23 | CEBPB | chr5:28818648-28818936 | K562 | blood: | n/a | chr5:28818791-28818802 |
24 | CHD2 | chr5:28809029-28809592 | K562 | blood: | n/a | n/a |
25 | CHD2 | chr5:28810281-28810330 | K562 | blood: | n/a | n/a |
26 | CHD2 | chr5:28810617-28810817 | K562 | blood: | n/a | n/a |
27 | CTCF | chr5:28810880-28811030 | HEK293 | kidney: | n/a | n/a |
28 | CTCF | chr5:28810960-28811110 | HVMF | connective: | n/a | chr5:28811027-28811040 |
29 | CTCF | chr5:28810360-28810510 | K562 | blood: | n/a | n/a |
30 | CTCF | chr5:28810388-28810549 | Fibrobl | skin: | n/a | n/a |
31 | CTCF | chr5:28811011-28811099 | LNCaP | prostate: | n/a | chr5:28811027-28811040 |
32 | CTCF | chr5:28810940-28811090 | HepG2 | liver: | n/a | chr5:28811027-28811040 |
33 | CTCF | chr5:28809845-28809945 | K562 | blood: | n/a | n/a |
34 | CTCF | chr5:28810380-28810530 | K562 | blood: | n/a | n/a |
35 | CTCF | chr5:28810420-28810570 | HVMF | connective: | n/a | n/a |
36 | CTCF | chr5:28810425-28810488 | K562 | blood: | n/a | n/a |
37 | CTCF | chr5:28816580-28816730 | Caco-2 | colon: | n/a | n/a |
38 | CTCF | chr5:28810900-28811050 | Hela-S3 | cervix: | n/a | chr5:28811027-28811040 |
39 | CTCF | chr5:28811000-28811150 | HCPEpiC | choroid plexus: | n/a | chr5:28811027-28811040 |
40 | CTCF | chr5:28810920-28811070 | HPF | lung: | n/a | chr5:28811027-28811040 |
41 | CTCF | chr5:28810960-28811110 | MCF-7 | breast: | n/a | chr5:28811027-28811040 |
42 | CTCF | chr5:28811040-28811190 | K562 | blood: | n/a | n/a |
43 | CTCF | chr5:28812248-28812293 | K562 | blood: | n/a | n/a |
44 | CTCF | chr5:28810274-28811313 | K562 | blood: | n/a | chr5:28811027-28811040 |
45 | CTCF | chr5:28810980-28811130 | HBMEC | blood vessel: | n/a | chr5:28811027-28811040 |
46 | CTCF | chr5:28811040-28811190 | HVMF | connective: | n/a | n/a |
47 | CTCF | chr5:28810920-28811139 | Hela-S3 | cervix: | n/a | chr5:28811027-28811040 |
48 | CTCF | chr5:28810947-28811139 | A549 | lung: | n/a | chr5:28811027-28811040 |
49 | CTCF | chr5:28810977-28811086 | LNCaP | prostate: | n/a | chr5:28811027-28811040 |
50 | CTCF | chr5:28809207-28809417 | K562 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:28809622-28809672 | ProgFib | skin: | n/a |
2 | chr5:28809997-28810047 | RPTEC | kidney: | n/a |
3 | chr5:28809037-28809087 | BE2_C | brain: | n/a |
4 | chr5:28809997-28810047 | CMK | blood: | n/a |
5 | chr5:28810148-28810198 | IMR90 | lung: | fetal |
6 | chr5:28810402-28810452 | HNPCEpiC | eye: | n/a |
7 | chr5:28810402-28810452 | PrEC | prostate: | n/a |
8 | chr5:28810645-28810695 | HEK293 | kidney: | embryo |
9 | chr5:28810148-28810198 | PFSK-1 | brain: | n/a |
10 | chr5:28810148-28810198 | HCPEpiC | choroid plexus: | n/a |
11 | chr5:28809622-28809672 | HL-60 | blood: | n/a |
12 | chr5:28809997-28810047 | HAEpiC | amniotic membrane: | n/a |
13 | chr5:28810148-28810198 | HRCEpiC | kidney: | n/a |
14 | chr5:28810148-28810198 | NHBE | bronchial: | n/a |
15 | chr5:28810148-28810198 | NHDF-neo | bronchial: | n/a |
16 | chr5:28809037-28809087 | AoSMC | blood vessel: | n/a |
17 | chr5:28809622-28809672 | SAEC | small airway: | n/a |
18 | chr5:28809622-28809672 | GM19239 | blood: | n/a |
19 | chr5:28810645-28810695 | GM19239 | blood: | n/a |
20 | chr5:28810148-28810198 | AG04449 | skin: | fetal |
21 | chr5:28809037-28809087 | MCF10A-Er-Src | breast: | n/a |
22 | chr5:28809997-28810047 | MCF10A-Er-Src | breast: | n/a |
23 | chr5:28810402-28810452 | BE2_C | brain: | n/a |
24 | chr5:28809121-28809171 | HRCEpiC | kidney: | n/a |
25 | chr5:28810402-28810452 | ECC-1 | luminal epithelium: | n/a |
26 | chr5:28809121-28809171 | ECC-1 | luminal epithelium: | n/a |
27 | chr5:28810148-28810198 | PANC-1 | pancreas: | n/a |
28 | chr5:28809622-28809672 | H1-hESC | embryonic stem cell: | embryo |
29 | chr5:28809997-28810047 | HCPEpiC | choroid plexus: | n/a |
30 | chr5:28810402-28810452 | AoSMC | blood vessel: | n/a |
31 | chr5:28810402-28810452 | AG09319 | gingival: | n/a |
32 | chr5:28809121-28809171 | A549 | lung: | n/a |
33 | chr5:28810148-28810198 | GM12878 | blood: | n/a |
34 | chr5:28810402-28810452 | H1-hESC | embryonic stem cell: | embryo |
35 | chr5:28810402-28810452 | HCPEpiC | choroid plexus: | n/a |
36 | chr5:28809121-28809171 | GM19239 | blood: | n/a |
37 | chr5:28810645-28810695 | HRCEpiC | kidney: | n/a |
38 | chr5:28809997-28810047 | AG04449 | skin: | fetal |
39 | chr5:28810148-28810198 | HMEC | breast: | n/a |
40 | chr5:28810148-28810198 | MCF-7 | breast: | n/a |
41 | chr5:28810402-28810452 | Hela-S3 | cervix: | n/a |
42 | chr5:28810148-28810198 | HEK293 | kidney: | embryo |
43 | chr5:28810148-28810198 | SK-N-SH | brain: | n/a |
44 | chr5:28810402-28810452 | NHDF-neo | bronchial: | n/a |
45 | chr5:28809997-28810047 | HRCEpiC | kidney: | n/a |
46 | chr5:28809037-28809087 | GM12891 | blood: | n/a |
47 | chr5:28810645-28810695 | PrEC | prostate: | n/a |
48 | chr5:28810148-28810198 | Hepatocyte | liver: | n/a |
49 | chr5:28809121-28809171 | SK-N-SH | brain: | n/a |
50 | chr5:28809121-28809171 | HUVEC | blood vessel: | n/a |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:28848991..28851784-chr5:28856691..28858212,2 | K562 | blood: | |
2 | chr5:28836092..28838497-chr5:28839805..28842751,2 | MCF-7 | breast: | |
3 | chr5:28816134..28818756-chr5:28819776..28822041,3 | K562 | blood: | |
4 | chr5:28806282..28808048-chr5:28853726..28856182,2 | K562 | blood: | |
5 | chr5:28823907..28826639-chr5:28834141..28835828,2 | K562 | blood: | |
6 | chr5:28851055..28851753-chr7:86185395..86186230,2 | MCF-7 | breast: | |
7 | chr5:28811938..28814493-chr5:28819966..28823203,3 | K562 | blood: | |
8 | chr5:28806282..28808048-chr5:28853726..28856182,2 | K562 | blood: | |
9 | chr5:28826049..28828145-chr5:28828270..28829851,2 | K562 | blood: | |
10 | chr5:28811938..28814493-chr5:28819966..28823203,3 | K562 | blood: | |
11 | chr5:28816134..28818756-chr5:28819776..28822041,3 | K562 | blood: | |
12 | chr5:28827388..28830378-chr5:28832041..28834686,2 | K562 | blood: | |
13 | chr5:28809387..28811298-chr5:29193650..29195834,2 | K562 | blood: | |
14 | chr5:28805163..28807259-chr5:28812094..28813798,2 | K562 | blood: | |
15 | chr5:28765020..28766870-chr5:28809812..28812642,2 | K562 | blood: | |
16 | chr5:28743630..28746249-chr5:28809920..28812616,2 | K562 | blood: | |
17 | chr5:28805163..28807259-chr5:28812094..28813798,2 | K562 | blood: | |
18 | chr5:28836092..28838497-chr5:28839805..28842751,2 | MCF-7 | breast: | |
19 | chr5:28805922..28808420-chr5:28809202..28811186,4 | K562 | blood: | |
20 | chr5:28827388..28830378-chr5:28832041..28834686,2 | K562 | blood: | |
21 | chr5:28826049..28828145-chr5:28828270..28829851,2 | K562 | blood: | |
22 | chr5:28823907..28826639-chr5:28834141..28835828,2 | K562 | blood: | |
23 | chr5:28808032..28811102-chr5:28813971..28817710,5 | K562 | blood: |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-CDH9-6 | chr5:28809063-28809356 | ENSG00000250453 |
2 | lnc-CDH6-16 | chr5:28808645-28809362 | NONHSAT100821 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000250453 | TF binding region |
ENSG00000270495 | TF binding region |
ENSG00000250453 | CpG island |
ENSG00000270495 | CpG island |
ENSG00000270495 | chromatin interactions |
ENSG00000250453 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs2548005 | chr5:28806256-28806257 | Active TSS | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs551186705 | chr5:28806284-28806285 | Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs563109734 | chr5:28806312-28806313 | Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs193192287 | chr5:28806321-28806322 | Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs376383516 | chr5:28806328-28806329 | Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs184560921 | chr5:28806332-28806333 | Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs566521445 | chr5:28806343-28806344 | Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs533980934 | chr5:28806367-28806368 | Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs555421789 | chr5:28806414-28806415 | Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs188484449 | chr5:28806443-28806444 | Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs72758537 | chr5:28806489-28806490 | Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs146665005 | chr5:28806618-28806619 | Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs138773380 | chr5:28806622-28806623 | Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs545246215 | chr5:28806649-28806650 | Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs181341454 | chr5:28806674-28806675 | Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs572067334 | chr5:28806709-28806710 | Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs200288764 | chr5:28806719-28806720 | Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs566164333 | chr5:28806733-28806734 | Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs542671915 | chr5:28806762-28806763 | Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs16898167 | chr5:28806780-28806781 | Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs142746889 | chr5:28806782-28806783 | Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs549630885 | chr5:28806828-28806829 | Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs2554914 | chr5:28806835-28806836 | Active TSS | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs569683999 | chr5:28806861-28806862 | Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs377143232 | chr5:28806867-28806868 | Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs551657542 | chr5:28806977-28806978 | Active TSS | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs368384422 | chr5:28807006-28807007 | Active TSS | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
28 | rs78640654 | chr5:28807015-28807016 | Active TSS | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
29 | rs185170412 | chr5:28807040-28807041 | Active TSS | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
30 | rs147361360 | chr5:28807143-28807144 | Active TSS | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
31 | rs375820588 | chr5:28807203-28807204 | Enhancers Active TSS | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
32 | rs374137560 | chr5:28807232-28807233 | Enhancers Active TSS | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
33 | rs147974981 | chr5:28807267-28807268 | Enhancers Active TSS | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
34 | rs141613718 | chr5:28807345-28807346 | Enhancers Active TSS | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
35 | rs538291149 | chr5:28807400-28807401 | Enhancers Active TSS | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
36 | rs112345849 | chr5:28807412-28807413 | Enhancers Active TSS | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
37 | rs566552982 | chr5:28807426-28807427 | Enhancers Active TSS | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
38 | rs577757535 | chr5:28807453-28807454 | Enhancers Active TSS | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
39 | rs7726657 | chr5:28807460-28807461 | Enhancers Active TSS | TF binding regionChromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
40 | rs572404588 | chr5:28807487-28807488 | Enhancers Active TSS | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
41 | rs542955914 | chr5:28807488-28807489 | Enhancers Active TSS | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
42 | rs560836466 | chr5:28807491-28807492 | Enhancers Active TSS | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
43 | rs575949885 | chr5:28807498-28807499 | Enhancers Active TSS | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
44 | rs543463622 | chr5:28807541-28807542 | Enhancers Active TSS | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
45 | rs189590174 | chr5:28807559-28807560 | Enhancers Active TSS | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
46 | rs535493095 | chr5:28807643-28807644 | Enhancers Active TSS | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
47 | rs182004772 | chr5:28807674-28807675 | Enhancers Active TSS | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
48 | rs72758538 | chr5:28807695-28807696 | Enhancers Active TSS | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
49 | rs551594647 | chr5:28807700-28807701 | Enhancers Active TSS | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
50 | rs73749816 | chr5:28807742-28807743 | Enhancers Active TSS | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Salivary gland tumor | 18059337 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Kartagener syndrome | 16639409 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Cervical squamous cell carcinoma | 21590768 | CNVD |
Non-small cell lung cancer | 20864512 | 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 |
Acute lymphoblastic leukemia | 20435627 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | 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 |
Cancer | 16751803 | CNVD |
Breast cancer | 16608533 | CNVD |
Autism | 22495311 | CNVD |
Melanoma | 18172304 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Intellectual disability | 22102821 | CNVD |
Lung cancer | 16740712 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
Prostate cancer | 21965145 | CNVD |
Cancer | 21183584 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Breast cancer | 17603634 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Non-small cell lung cancer | 19010865 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Compulsive disorder | 18923513 | CNVD |
Epilepsy | 18923513 | CNVD |
Prader-willi syndrome | 18923513 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Lung cancer | 18438408 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Glioma | 20126413 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Breast cancer | 22032731 | CNVD |
Esophageal cancer | 20955586 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 21364760 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Schizophrenia | 23813976 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:28806200-28813200 | Active TSS | K562 | blood |
2 | chr5:28807200-28807800 | Enhancers | Hela-S3 | cervix |
3 | chr5:28808400-28808600 | Enhancers | Placenta | Placenta |
4 | chr5:28808400-28809200 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
5 | chr5:28808600-28810800 | ZNF genes & repeats | Placenta | Placenta |
6 | chr5:28809000-28810600 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
7 | chr5:28809200-28809400 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
8 | chr5:28809400-28809800 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
9 | chr5:28809800-28810400 | Active TSS | H1 Derived Mesenchymal Stem Cells | ES cell derived |
10 | chr5:28810800-28811400 | Active TSS | Placenta | Placenta |
11 | chr5:28813200-28816600 | Weak transcription | K562 | blood |
12 | chr5:28822200-28822800 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
13 | chr5:28823200-28823800 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
14 | chr5:28825600-28827000 | Enhancers | Fetal Heart | heart |