Variant report
Variant | nsv1033770 |
---|---|
Chromosome Location | chr5:28782845-28897933 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:435)
- CpG islands (count:488)
- Chromatin interactive region (count:36)
- LncRNA region (count:4)
- 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 | ARID3A | chr5:28862973-28863184 | HepG2 | liver: | n/a | n/a |
3 | BHLHE40 | chr5:28814502-28814623 | K562 | blood: | n/a | n/a |
4 | BHLHE40 | chr5:28808920-28809724 | K562 | blood: | n/a | n/a |
5 | BHLHE40 | chr5:28816335-28816476 | K562 | blood: | n/a | n/a |
6 | BHLHE40 | chr5:28810355-28810693 | K562 | blood: | n/a | chr5:28810481-28810497 chr5:28810394-28810410 |
7 | BRCA1 | chr5:28815213-28815234 | Hela-S3 | cervix: | n/a | n/a |
8 | CBX3 | chr5:28823373-28823651 | K562 | blood: | n/a | n/a |
9 | CBX3 | chr5:28809015-28809399 | K562 | blood: | n/a | n/a |
10 | CBX3 | chr5:28823321-28823730 | K562 | blood: | n/a | n/a |
11 | CCNT2 | chr5:28816425-28816641 | K562 | blood: | n/a | n/a |
12 | CCNT2 | chr5:28809192-28810112 | K562 | blood: | n/a | n/a |
13 | CCNT2 | chr5:28810313-28810825 | K562 | blood: | n/a | chr5:28810357-28810366 |
14 | CEBPB | chr5:28831182-28831450 | H1-hESC | embryonic stem cell: | n/a | chr5:28831343-28831354 |
15 | CEBPB | chr5:28834436-28834676 | HepG2 | liver: | n/a | chr5:28834587-28834598 |
16 | CEBPB | chr5:28828802-28828896 | A549 | lung: | n/a | n/a |
17 | CEBPB | chr5:28862960-28863277 | HepG2 | liver: | n/a | n/a |
18 | CEBPB | chr5:28896561-28896803 | K562 | blood: | n/a | n/a |
19 | CEBPB | chr5:28831210-28831505 | K562 | blood: | n/a | chr5:28831343-28831354 |
20 | CEBPB | chr5:28818648-28818936 | K562 | blood: | n/a | chr5:28818791-28818802 |
21 | CEBPB | chr5:28831202-28831533 | HepG2 | liver: | n/a | chr5:28831343-28831354 |
22 | CEBPB | chr5:28809192-28809322 | K562 | blood: | n/a | n/a |
23 | CEBPB | chr5:28831177-28831503 | A549 | lung: | n/a | chr5:28831343-28831354 |
24 | CEBPB | chr5:28834515-28834730 | K562 | blood: | n/a | chr5:28834587-28834598 |
25 | CEBPB | chr5:28850602-28850862 | K562 | blood: | n/a | n/a |
26 | CEBPB | chr5:28818678-28818966 | HepG2 | liver: | n/a | chr5:28818791-28818802 |
27 | CHD2 | chr5:28810281-28810330 | K562 | blood: | n/a | n/a |
28 | CHD2 | chr5:28809029-28809592 | K562 | blood: | n/a | n/a |
29 | CHD2 | chr5:28810617-28810817 | K562 | blood: | n/a | n/a |
30 | CTCF | chr5:28810920-28811139 | Hela-S3 | cervix: | n/a | chr5:28811027-28811040 |
31 | CTCF | chr5:28810943-28811116 | HepG2 | liver: | n/a | chr5:28811027-28811040 |
32 | CTCF | chr5:28809845-28809945 | K562 | blood: | n/a | n/a |
33 | CTCF | chr5:28897198-28897363 | LNCaP | prostate: | n/a | chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272 |
34 | CTCF | chr5:28896938-28896973 | K562 | blood: | n/a | n/a |
35 | CTCF | chr5:28810274-28811313 | K562 | blood: | n/a | chr5:28811027-28811040 |
36 | CTCF | chr5:28783340-28783490 | Hela-S3 | cervix: | n/a | n/a |
37 | CTCF | chr5:28897200-28897350 | HA-sp | spinal cord: | n/a | chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272 |
38 | CTCF | chr5:28897100-28897250 | MCF-7 | breast: | n/a | n/a |
39 | CTCF | chr5:28897140-28897290 | HMEC | breast: | n/a | chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272 |
40 | CTCF | chr5:28810930-28811187 | K562 | blood: | n/a | chr5:28811027-28811040 |
41 | CTCF | chr5:28810960-28811110 | HBMEC | blood vessel: | n/a | chr5:28811027-28811040 |
42 | CTCF | chr5:28897160-28897310 | Hela-S3 | cervix: | n/a | chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272 |
43 | CTCF | chr5:28810425-28810488 | K562 | blood: | n/a | n/a |
44 | CTCF | chr5:28810900-28811050 | Hela-S3 | cervix: | n/a | chr5:28811027-28811040 |
45 | CTCF | chr5:28810960-28811110 | RPTEC | kidney: | n/a | chr5:28811027-28811040 |
46 | CTCF | chr5:28897340-28897490 | RPTEC | kidney: | n/a | n/a |
47 | CTCF | chr5:28810941-28811090 | SK-N-SH_RA | brain: | n/a | chr5:28811027-28811040 |
48 | CTCF | chr5:28810640-28810790 | HVMF | connective: | n/a | n/a |
49 | CTCF | chr5:28810977-28811086 | LNCaP | prostate: | n/a | chr5:28811027-28811040 |
50 | CTCF | chr5:28821150-28821198 | GM20000 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:28810148-28810198 | SKMC | muscle: | n/a |
2 | chr5:28810645-28810695 | AoSMC | blood vessel: | n/a |
3 | chr5:28810402-28810452 | HMEC | breast: | n/a |
4 | chr5:28810148-28810198 | LNCaP | prostate: | n/a |
5 | chr5:28810148-28810198 | U87 | brain: | n/a |
6 | chr5:28799238-28799288 | CMK | blood: | n/a |
7 | chr5:28809121-28809171 | ovcar-3 | ovarian: | n/a |
8 | chr5:28809622-28809672 | H1-hESC | embryonic stem cell: | embryo |
9 | chr5:28809037-28809087 | U87 | brain: | n/a |
10 | chr5:28809997-28810047 | Hela-S3 | cervix: | n/a |
11 | chr5:28810402-28810452 | HCF | heart: | n/a |
12 | chr5:28810645-28810695 | HL-60 | blood: | n/a |
13 | chr5:28799238-28799288 | SK-N-SH_RA | brain: | n/a |
14 | chr5:28810148-28810198 | ProgFib | skin: | n/a |
15 | chr5:28809121-28809171 | SK-N-MC | brain: | n/a |
16 | chr5:28809121-28809171 | T-47D | breast: | n/a |
17 | chr5:28809121-28809171 | U87 | brain: | n/a |
18 | chr5:28810148-28810198 | GM12878 | blood: | n/a |
19 | chr5:28809622-28809672 | GM12891 | blood: | n/a |
20 | chr5:28799238-28799288 | NB4 | blood: | n/a |
21 | chr5:28809121-28809171 | BE2_C | brain: | n/a |
22 | chr5:28809997-28810047 | GM19239 | blood: | n/a |
23 | chr5:28809997-28810047 | A549 | lung: | n/a |
24 | chr5:28809037-28809087 | GM06990 | blood: | n/a |
25 | chr5:28810402-28810452 | HCPEpiC | choroid plexus: | n/a |
26 | chr5:28809037-28809087 | HRPEpiC | eye: | n/a |
27 | chr5:28809997-28810047 | Hepatocyte | liver: | n/a |
28 | chr5:28810645-28810695 | AG04449 | skin: | fetal |
29 | chr5:28809622-28809672 | SAEC | small airway: | n/a |
30 | chr5:28809121-28809171 | PANC-1 | pancreas: | n/a |
31 | chr5:28810645-28810695 | LNCaP | prostate: | n/a |
32 | chr5:28809037-28809087 | SK-N-SH_RA | brain: | n/a |
33 | chr5:28810645-28810695 | HEEpiC | esophagus: | n/a |
34 | chr5:28809997-28810047 | ProgFib | skin: | n/a |
35 | chr5:28809037-28809087 | HMEC | breast: | n/a |
36 | chr5:28799238-28799288 | AoSMC | blood vessel: | n/a |
37 | chr5:28810402-28810452 | PFSK-1 | brain: | n/a |
38 | chr5:28810645-28810695 | AG10803 | skin: | n/a |
39 | chr5:28810645-28810695 | CMK | blood: | n/a |
40 | chr5:28809121-28809171 | GM06990 | blood: | n/a |
41 | chr5:28809997-28810047 | AG09319 | gingival: | n/a |
42 | chr5:28810645-28810695 | AG09309 | skin: | n/a |
43 | chr5:28810148-28810198 | SK-N-MC | brain: | n/a |
44 | chr5:28799238-28799288 | Caco-2 | colon: | n/a |
45 | chr5:28809622-28809672 | AG09309 | skin: | n/a |
46 | chr5:28809622-28809672 | SK-N-SH_RA | brain: | n/a |
47 | chr5:28810645-28810695 | Caco-2 | colon: | n/a |
48 | chr5:28799238-28799288 | HRPEpiC | eye: | n/a |
49 | chr5:28809622-28809672 | HPAEpiC | pulmonary alveolar: | n/a |
50 | chr5:28809121-28809171 | HEK293 | kidney: | embryo |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:28808352..28811830-chr5:28882168..28885526,3 | K562 | blood: | |
2 | chr5:28892844..28895321-chr5:28897758..28899346,2 | K562 | blood: | |
3 | chr5:28779022..28779987-chr5:28896759..28897898,5 | MCF-7 | breast: | |
4 | chr5:28771345..28773063-chr5:28782403..28784396,2 | K562 | blood: | |
5 | chr5:28851055..28851753-chr7:86185395..86186230,2 | MCF-7 | breast: | |
6 | chr5:28836092..28838497-chr5:28839805..28842751,2 | MCF-7 | breast: | |
7 | chr5:28806282..28808048-chr5:28853726..28856182,2 | K562 | blood: | |
8 | chr5:28836092..28838497-chr5:28839805..28842751,2 | MCF-7 | breast: | |
9 | chr5:28805163..28807259-chr5:28812094..28813798,2 | K562 | blood: | |
10 | chr5:28808032..28811102-chr5:28813971..28817710,5 | K562 | blood: | |
11 | chr5:28816134..28818756-chr5:28819776..28822041,3 | K562 | blood: | |
12 | chr5:28882757..28885638-chr5:28890766..28893255,2 | K562 | blood: | |
13 | chr5:28786798..28789363-chr5:28791647..28793398,2 | K562 | blood: | |
14 | chr5:28827388..28830378-chr5:28832041..28834686,2 | K562 | blood: | |
15 | chr5:28805922..28808420-chr5:28809202..28811186,4 | K562 | blood: | |
16 | chr5:28777228..28779572-chr5:28784624..28787544,2 | K562 | blood: | |
17 | chr5:28816134..28818756-chr5:28819776..28822041,3 | K562 | blood: | |
18 | chr5:28826049..28828145-chr5:28828270..28829851,2 | K562 | blood: | |
19 | chr5:28743630..28746249-chr5:28809920..28812616,2 | K562 | blood: | |
20 | chr5:28827388..28830378-chr5:28832041..28834686,2 | K562 | blood: | |
21 | chr5:28786798..28789363-chr5:28791647..28793398,2 | K562 | blood: | |
22 | chr5:28811938..28814493-chr5:28819966..28823203,3 | K562 | blood: | |
23 | chr5:28823907..28826639-chr5:28834141..28835828,2 | K562 | blood: | |
24 | chr5:28823907..28826639-chr5:28834141..28835828,2 | K562 | blood: | |
25 | chr5:28765020..28766870-chr5:28809812..28812642,2 | K562 | blood: | |
26 | chr5:28805163..28807259-chr5:28812094..28813798,2 | K562 | blood: | |
27 | chr5:28806282..28808048-chr5:28853726..28856182,2 | K562 | blood: | |
28 | chr5:28848991..28851784-chr5:28856691..28858212,2 | K562 | blood: | |
29 | chr5:28826049..28828145-chr5:28828270..28829851,2 | K562 | blood: | |
30 | chr5:28882757..28885638-chr5:28890766..28893255,2 | K562 | blood: | |
31 | chr5:28809387..28811298-chr5:29193650..29195834,2 | K562 | blood: | |
32 | chr5:28848991..28851784-chr5:28856691..28858212,2 | K562 | blood: | |
33 | chr5:28811938..28814493-chr5:28819966..28823203,3 | K562 | blood: | |
34 | chr5:28878210..28880658-chr5:28883353..28885115,2 | K562 | blood: | |
35 | chr1:121484566..121485406-chr5:28783478..28783978,2 | MCF-7 | breast: | |
36 | chr5:28878210..28880658-chr5:28883353..28885115,2 | K562 | blood: |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-CDH9-6 | chr5:28809063-28809356 | ENSG00000250453 |
2 | lnc-CDH9-6 | chr5:28782785-28782942 | ENSG00000250453 |
3 | lnc-CDH9-12 | chr5:28897892-28898381 | NONHSAT100823 |
4 | 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 |
ENSG00000271035 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs150885840 | chr5:28782846-28782847 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
2 | rs35488028 | chr5:28782903-28782904 | Weak transcription | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
3 | rs528450584 | chr5:28782925-28782926 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
4 | rs541422173 | chr5:28782930-28782931 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
5 | rs547065017 | chr5:28782953-28782954 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs77072656 | chr5:28782990-28782991 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs16898129 | chr5:28783015-28783016 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
8 | rs552187278 | chr5:28783073-28783074 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs550815911 | chr5:28783084-28783085 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs181349350 | chr5:28783105-28783106 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs539263733 | chr5:28783181-28783182 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs111625365 | chr5:28783247-28783248 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs34989840 | chr5:28783266-28783267 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs572848730 | chr5:28783367-28783368 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs533534889 | chr5:28783416-28783417 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs77840248 | chr5:28783429-28783430 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs144366732 | chr5:28783438-28783439 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs146456273 | chr5:28783449-28783450 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs544269429 | chr5:28783463-28783464 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs562459321 | chr5:28783498-28783499 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs115302013 | chr5:28783515-28783516 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs112149783 | chr5:28783524-28783525 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs542851768 | chr5:28783540-28783541 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs546425526 | chr5:28783543-28783544 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs143214349 | chr5:28783551-28783552 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs146662410 | chr5:28783566-28783567 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs562655288 | chr5:28783586-28783587 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs531327664 | chr5:28783623-28783624 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs185180447 | chr5:28783630-28783631 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs551009736 | chr5:28783692-28783693 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs2244630 | chr5:28783716-28783717 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs77512822 | chr5:28783721-28783722 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs551203163 | chr5:28783730-28783731 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs80198106 | chr5:28783754-28783755 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs541334328 | chr5:28783808-28783809 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs377349250 | chr5:28783819-28783820 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs189990272 | chr5:28783827-28783828 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs148911524 | chr5:28783834-28783835 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs537452827 | chr5:28783851-28783852 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs143590788 | chr5:28783860-28783861 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs546984446 | chr5:28783866-28783867 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs546413258 | chr5:28783888-28783889 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs16898131 | chr5:28783889-28783890 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
44 | rs183301811 | chr5:28783898-28783899 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs149096724 | chr5:28783913-28783914 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs540892071 | chr5:28783915-28783916 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs10600256 | chr5:28783916-28783917 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs1423286 | chr5:28783924-28783925 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
49 | rs529237245 | chr5:28784013-28784014 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs368093744 | chr5:28784054-28784055 | Weak transcription | n/a | n/a | 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 | chr5:28781800-28784200 | Weak transcription | K562 | blood |
2 | chr5:28789200-28790200 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
3 | chr5:28789600-28790200 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
4 | chr5:28806200-28813200 | Active TSS | K562 | blood |
5 | chr5:28807200-28807800 | Enhancers | Hela-S3 | cervix |
6 | chr5:28808400-28808600 | Enhancers | Placenta | Placenta |
7 | chr5:28808400-28809200 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
8 | chr5:28808600-28810800 | ZNF genes & repeats | Placenta | Placenta |
9 | chr5:28809000-28810600 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
10 | chr5:28809200-28809400 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
11 | chr5:28809400-28809800 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
12 | chr5:28809800-28810400 | Active TSS | H1 Derived Mesenchymal Stem Cells | ES cell derived |
13 | chr5:28810800-28811400 | Active TSS | Placenta | Placenta |
14 | chr5:28813200-28816600 | Weak transcription | K562 | blood |
15 | chr5:28822200-28822800 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
16 | chr5:28823200-28823800 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
17 | chr5:28825600-28827000 | Enhancers | Fetal Heart | heart |
18 | chr5:28857600-28859800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
19 | chr5:28859800-28860000 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
20 | chr5:28860000-28861600 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
21 | chr5:28861400-28862600 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
22 | chr5:28861600-28862000 | Flanking Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
23 | chr5:28862000-28862400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
24 | chr5:28862200-28863000 | Enhancers | HepG2 | liver |
25 | chr5:28862400-28863600 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
26 | chr5:28863600-28864200 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
27 | chr5:28876800-28877400 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
28 | chr5:28884200-28889600 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
29 | chr5:28897400-28898600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |