Variant report
Variant | nsv1006504 |
---|---|
Chromosome Location | chr1:215890460-216642124 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:3675)
- CpG islands (count:1099)
- Chromatin interactive region (count:146)
- LncRNA region (count:26)
- Mature miRNA region (count: 0)
- miRNA target sites (count:1)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | ARID3A | chr1:216038480-216038809 | HepG2 | liver: | n/a | n/a |
2 | ARID3A | chr1:215891130-215891235 | HepG2 | liver: | n/a | n/a |
3 | ARID3A | chr1:216208104-216208112 | HepG2 | liver: | n/a | n/a |
4 | ARID3A | chr1:216394547-216394908 | HepG2 | liver: | n/a | n/a |
5 | ARID3A | chr1:216380414-216380959 | HepG2 | liver: | n/a | n/a |
6 | ARID3A | chr1:216397584-216397925 | HepG2 | liver: | n/a | n/a |
7 | ATF1 | chr1:216204839-216204905 | K562 | blood: | n/a | n/a |
8 | ATF1 | chr1:216230255-216230377 | K562 | blood: | n/a | n/a |
9 | ATF1 | chr1:216576495-216576502 | K562 | blood: | n/a | n/a |
10 | ATF1 | chr1:215897933-215897939 | K562 | blood: | n/a | n/a |
11 | ATF1 | chr1:216356836-216356988 | K562 | blood: | n/a | n/a |
12 | ATF2 | chr1:216179157-216179628 | GM12878 | blood: | n/a | n/a |
13 | ATF2 | chr1:216268749-216269094 | H1-hESC | embryonic stem cell: | n/a | n/a |
14 | ATF2 | chr1:216367347-216367712 | H1-hESC | embryonic stem cell: | n/a | n/a |
15 | ATF2 | chr1:216356263-216356714 | H1-hESC | embryonic stem cell: | n/a | n/a |
16 | ATF2 | chr1:216179113-216179691 | GM12878 | blood: | n/a | n/a |
17 | ATF2 | chr1:216356273-216356800 | H1-hESC | embryonic stem cell: | n/a | n/a |
18 | BACH1 | chr1:216354313-216354445 | H1-hESC | embryonic stem cell: | n/a | n/a |
19 | BACH1 | chr1:216007363-216007709 | H1-hESC | embryonic stem cell: | n/a | n/a |
20 | BACH1 | chr1:216231352-216231621 | H1-hESC | embryonic stem cell: | n/a | n/a |
21 | BACH1 | chr1:216268710-216269105 | H1-hESC | embryonic stem cell: | n/a | n/a |
22 | BACH1 | chr1:216484310-216484368 | H1-hESC | embryonic stem cell: | n/a | n/a |
23 | BACH1 | chr1:216248646-216248945 | H1-hESC | embryonic stem cell: | n/a | n/a |
24 | BACH1 | chr1:215966691-215966835 | H1-hESC | embryonic stem cell: | n/a | n/a |
25 | BACH1 | chr1:216541739-216541938 | H1-hESC | embryonic stem cell: | n/a | n/a |
26 | BATF | chr1:216179265-216179648 | GM12878 | blood: | n/a | chr1:216179445-216179455 chr1:216179444-216179455 |
27 | BATF | chr1:216505391-216505721 | GM12878 | blood: | n/a | chr1:216505576-216505587 |
28 | BATF | chr1:216505941-216506178 | GM12878 | blood: | n/a | chr1:216506043-216506054 |
29 | BATF | chr1:216179272-216179547 | GM12878 | blood: | n/a | chr1:216179445-216179455 chr1:216179444-216179455 |
30 | BCL11A | chr1:216562063-216562257 | H1-hESC | embryonic stem cell: | n/a | n/a |
31 | BCL11A | chr1:216179205-216179624 | GM12878 | blood: | n/a | chr1:216179443-216179452 chr1:216179444-216179453 |
32 | BCL3 | chr1:216104857-216105283 | GM12878 | blood: | n/a | n/a |
33 | BCLAF1 | chr1:216292981-216293273 | GM12878 | blood: | n/a | n/a |
34 | BHLHE40 | chr1:216167868-216168082 | GM12878 | blood: | n/a | n/a |
35 | BHLHE40 | chr1:216281301-216281320 | GM12878 | blood: | n/a | n/a |
36 | BHLHE40 | chr1:216052241-216052601 | GM12878 | blood: | n/a | n/a |
37 | BHLHE40 | chr1:216179335-216179521 | GM12878 | blood: | n/a | n/a |
38 | BHLHE40 | chr1:216614865-216614936 | GM12878 | blood: | n/a | n/a |
39 | BHLHE40 | chr1:216293052-216293215 | GM12878 | blood: | n/a | n/a |
40 | BRCA1 | chr1:216488086-216488399 | Hela-S3 | cervix: | n/a | n/a |
41 | BRCA1 | chr1:216539982-216540123 | Hela-S3 | cervix: | n/a | n/a |
42 | BRCA1 | chr1:215948676-215948703 | H1-hESC | embryonic stem cell: | n/a | n/a |
43 | BRCA1 | chr1:216635777-216636088 | Hela-S3 | cervix: | n/a | n/a |
44 | BRCA1 | chr1:216466947-216467430 | Hela-S3 | cervix: | n/a | n/a |
45 | CBX3 | chr1:215985549-215985890 | K562 | blood: | n/a | n/a |
46 | CBX3 | chr1:216458387-216458672 | K562 | blood: | n/a | n/a |
47 | CBX3 | chr1:216458398-216458713 | K562 | blood: | n/a | n/a |
48 | CCNT2 | chr1:215963397-215963522 | K562 | blood: | n/a | n/a |
49 | CEBPB | chr1:216467111-216467396 | A549 | lung: | n/a | n/a |
50 | CEBPB | chr1:216532397-216532549 | K562 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:216467049-216467099 | Hepatocyte | liver: | n/a |
2 | chr1:216467049-216467099 | Hepatocyte | liver: | n/a |
3 | chr1:216058191-216058241 | SK-N-SH_RA | brain: | n/a |
4 | chr1:215966091-215966141 | GM06990 | blood: | n/a |
5 | chr1:215993017-215993067 | HRE | kidney: | n/a |
6 | chr1:215966091-215966141 | HL-60 | blood: | n/a |
7 | chr1:216412024-216412074 | Hela-S3 | cervix: | n/a |
8 | chr1:216596808-216596858 | ECC-1 | luminal epithelium: | n/a |
9 | chr1:216412024-216412074 | AG04449 | skin: | fetal |
10 | chr1:216269240-216269290 | GM19239 | blood: | n/a |
11 | chr1:215966091-215966141 | HepG2 | liver: | n/a |
12 | chr1:216561886-216561936 | HNPCEpiC | eye: | n/a |
13 | chr1:216019172-216019222 | HRE | kidney: | n/a |
14 | chr1:216348212-216348262 | GM12892 | blood: | n/a |
15 | chr1:216596808-216596858 | U87 | brain: | n/a |
16 | chr1:215950212-215950262 | GM12891 | blood: | n/a |
17 | chr1:216412024-216412074 | HCF | heart: | n/a |
18 | chr1:216561886-216561936 | HAEpiC | amniotic membrane: | n/a |
19 | chr1:216058191-216058241 | NB4 | blood: | n/a |
20 | chr1:216561886-216561936 | AoSMC | blood vessel: | n/a |
21 | chr1:216561886-216561936 | PrEC | prostate: | n/a |
22 | chr1:215993017-215993067 | AG09319 | gingival: | n/a |
23 | chr1:216596639-216596689 | GM12892 | blood: | n/a |
24 | chr1:216419959-216420009 | Hela-S3 | cervix: | n/a |
25 | chr1:216269240-216269290 | SKMC | muscle: | n/a |
26 | chr1:216596808-216596858 | GM12892 | blood: | n/a |
27 | chr1:215966091-215966141 | Hepatocyte | liver: | n/a |
28 | chr1:215993110-215993160 | HEEpiC | esophagus: | n/a |
29 | chr1:216467049-216467099 | A549 | lung: | n/a |
30 | chr1:216561886-216561936 | NT2-D1 | testis: | n/a |
31 | chr1:215993017-215993067 | HAEpiC | amniotic membrane: | n/a |
32 | chr1:216467049-216467099 | CMK | blood: | n/a |
33 | chr1:216019172-216019222 | HAEpiC | amniotic membrane: | n/a |
34 | chr1:216419959-216420009 | PFSK-1 | brain: | n/a |
35 | chr1:216356932-216356982 | HL-60 | blood: | n/a |
36 | chr1:215940809-215940859 | AG04450 | lung: | fetal |
37 | chr1:215993017-215993067 | Hepatocyte | liver: | n/a |
38 | chr1:216596808-216596858 | NT2-D1 | testis: | n/a |
39 | chr1:216144819-216144869 | AG04450 | lung: | fetal |
40 | chr1:215940809-215940859 | AG04449 | skin: | fetal |
41 | chr1:216356932-216356982 | AG04449 | skin: | fetal |
42 | chr1:215940809-215940859 | GM12892 | blood: | n/a |
43 | chr1:216596808-216596858 | HCPEpiC | choroid plexus: | n/a |
44 | chr1:216561886-216561936 | GM19239 | blood: | n/a |
45 | chr1:216269240-216269290 | H1-hESC | embryonic stem cell: | embryo |
46 | chr1:216058191-216058241 | AG09309 | skin: | n/a |
47 | chr1:215923004-215923054 | HCF | heart: | n/a |
48 | chr1:215993017-215993067 | NT2-D1 | testis: | n/a |
49 | chr1:216596639-216596689 | SKMC | muscle: | n/a |
50 | chr1:216596639-216596689 | GM19239 | blood: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:216061653..216062167-chr1:216394272..216395211,2 | MCF-7 | breast: | |
2 | chr1:216457785..216460190-chr1:216476621..216478590,2 | MCF-7 | breast: | |
3 | chr1:216246066..216248106-chr1:216251823..216254349,2 | K562 | blood: | |
4 | chr1:216038488..216040795-chr1:216041883..216043441,2 | K562 | blood: | |
5 | chr1:216443106..216445279-chr1:216447249..216449101,2 | K562 | blood: | |
6 | chr1:216119789..216122562-chr9:92704177..92706793,2 | MCF-7 | breast: | |
7 | chr1:216109491..216112444-chr1:216113554..216115668,2 | MCF-7 | breast: | |
8 | chr1:215964422..215967259-chr1:215967947..215970309,2 | MCF-7 | breast: | |
9 | chr1:215950625..215952273-chr1:215954603..215956279,2 | K562 | blood: | |
10 | chr1:216261476..216264118-chr1:216264483..216266208,2 | K562 | blood: | |
11 | chr1:216208048..216208557-chr1:216367548..216368089,2 | MCF-7 | breast: | |
12 | chr1:216158513..216161013-chr1:216166176..216168523,2 | MCF-7 | breast: | |
13 | chr1:215910354..215912136-chr1:216136601..216138157,2 | K562 | blood: | |
14 | chr1:216622981..216624507-chr1:216637851..216639964,2 | MCF-7 | breast: | |
15 | chr1:216441014..216443137-chr1:216448120..216450112,2 | K562 | blood: | |
16 | chr1:216538113..216539944-chr1:216540242..216541940,2 | K562 | blood: | |
17 | chr1:216139397..216141428-chr1:216167682..216169961,2 | K562 | blood: | |
18 | chr1:215997259..215998053-chr1:216367425..216368023,3 | MCF-7 | breast: | |
19 | chr1:216312061..216313973-chr1:216314332..216316595,2 | K562 | blood: | |
20 | chr1:216174957..216175816-chr1:216394270..216394785,2 | MCF-7 | breast: | |
21 | chr1:215896976..215899572-chr1:215900130..215902323,2 | MCF-7 | breast: | |
22 | chr1:215996903..215999986-chr1:216001908..216004780,3 | K562 | blood: | |
23 | chr1:216165696..216166649-chr1:216292836..216293591,2 | MCF-7 | breast: | |
24 | chr1:216074148..216076361-chr1:216095945..216097461,2 | K562 | blood: | |
25 | chr1:216369148..216372077-chr1:216383838..216386522,2 | K562 | blood: | |
26 | chr1:216369148..216372077-chr1:216383838..216386522,2 | K562 | blood: | |
27 | chr1:216443106..216445279-chr1:216447249..216449101,2 | K562 | blood: | |
28 | chr1:216285193..216285790-chr1:216916011..216916615,2 | MCF-7 | breast: | |
29 | chr1:216011612..216013640-chr1:216049925..216052317,2 | K562 | blood: | |
30 | chr1:216158513..216161013-chr1:216166176..216168523,2 | MCF-7 | breast: | |
31 | chr1:216061210..216062115-chr1:216367528..216368046,2 | MCF-7 | breast: | |
32 | chr1:215997641..215998142-chr1:216394183..216395163,2 | MCF-7 | breast: | |
33 | chr1:216237367..216239431-chr1:216241282..216242934,2 | MCF-7 | breast: | |
34 | chr1:216636863..216639290-chr1:216639438..216641574,2 | MCF-7 | breast: | |
35 | chr1:216547713..216550366-chr1:216550786..216552777,2 | MCF-7 | breast: | |
36 | chr1:216208048..216208557-chr1:216367548..216368089,2 | MCF-7 | breast: | |
37 | chr1:216164234..216166867-chr1:216167548..216169584,2 | K562 | blood: | |
38 | chr1:215964422..215967259-chr1:215967947..215970309,2 | MCF-7 | breast: | |
39 | chr1:216635219..216637699-chr1:216639556..216643694,3 | MCF-7 | breast: | |
40 | chr1:216166090..216166621-chr1:216293129..216293695,2 | MCF-7 | breast: | |
41 | chr1:216173759..216174488-chr1:216367163..216367696,2 | MCF-7 | breast: | |
42 | chr1:216095323..216098223-chr1:216099775..216101412,2 | K562 | blood: | |
43 | chr1:216284977..216285858-chr1:216367147..216367895,3 | MCF-7 | breast: | |
44 | chr1:216367471..216368059-chr1:216394243..216394806,2 | MCF-7 | breast: | |
45 | chr1:216386376..216389105-chr1:216390818..216392919,2 | MCF-7 | breast: | |
46 | chr1:215883862..215884424-chr1:216061346..216062151,2 | MCF-7 | breast: | |
47 | chr1:215896976..215899572-chr1:215900130..215902323,2 | MCF-7 | breast: | |
48 | chr1:215910354..215912136-chr1:216136601..216138157,2 | K562 | blood: | |
49 | chr1:216109491..216112444-chr1:216113554..216115668,2 | MCF-7 | breast: | |
50 | chr1:216245065..216247165-chr1:216288928..216290480,2 | K562 | blood: |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-KCTD3-2 | chr1:216260064-216260247 | ENSG00000233620.1 |
2 | lnc-KCTD3-8 | chr1:216273538-216273625 | NONHSAT009482 |
3 | lnc-KCTD3-2 | chr1:216246148-216246306 | ENSG00000233620.1 |
4 | lnc-KCTD3-2 | chr1:216252415-216252543 | ENSG00000233620.1 |
5 | lnc-KCTD3-7 | chr1:216158158-216158269 | NONHSAT009477 |
6 | lnc-KCTD3-9 | chr1:216286099-216286218 | NONHSAT009483 |
7 | lnc-KCTD3-9 | chr1:216283470-216284562 | NONHSAT009483 |
8 | lnc-KCTD3-7 | chr1:216132866-216132891 | NONHSAT009477 |
9 | lnc-KCTD3-3 | chr1:216377372-216377708 | ENSG00000236292.1 |
10 | lnc-KCTD3-2 | chr1:216260064-216260247 | ENSG00000233620.1 |
11 | lnc-KCTD3-9 | chr1:216291120-216291227 | NONHSAT009483 |
12 | lnc-KCTD3-9 | chr1:216298699-216299105 | NONHSAT009483 |
13 | lnc-KCTD3-3 | chr1:216369085-216369267 | ENSG00000236292.1 |
14 | lnc-KCTD3-7 | chr1:216159549-216160769 | NONHSAT009477 |
15 | lnc-KCTD3-7 | chr1:216151720-216151946 | NONHSAT009477 |
16 | lnc-KCTD3-2 | chr1:216246071-216246148 | ENSG00000233620.1 |
17 | lnc-KCTD3-2 | chr1:216252415-216252543 | ENSG00000233620.1 |
18 | lnc-KCTD3-3 | chr1:216367393-216367571 | ENSG00000236292.1 |
19 | lnc-KCTD3-2 | chr1:216252415-216252543 | ENSG00000233620.1 |
20 | lnc-KCTD3-1 | chr1:216059924-216059983 | ENSG00000229242.1 |
21 | lnc-KCTD3-2 | chr1:216245807-216245942 | ENSG00000233620.1 |
22 | lnc-KCTD3-2 | chr1:216260064-216260247 | ENSG00000233620.1 |
23 | lnc-KCTD3-8 | chr1:216271800-216271926 | NONHSAT009482 |
24 | lnc-KCTD3-2 | chr1:216253307-216253383 | ENSG00000233620.1 |
25 | lnc-KCTD3-2 | chr1:216260064-216260259 | ENSG00000233620.1 |
26 | lnc-KCTD3-1 | chr1:216074067-216074806 | ENSG00000229242.1 |
No data |
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No. | miRNA target gene | miRNA name | Chromosome Location | mirBase accession |
---|---|---|---|---|
1 | USH2A | hsa-miR-335-5p | chr1:216347974-216347996 |
Variant related genes | Relation type |
---|---|
ENSG00000229242 | TF binding region |
USH2A | TF binding region |
MRPS18BP1 | TF binding region |
ENSG00000233620 | TF binding region |
ENSG00000236292 | TF binding region |
ENSG00000229242 | CpG island |
USH2A | CpG island |
MRPS18BP1 | CpG island |
ENSG00000233620 | CpG island |
ENSG00000236292 | CpG island |
ENSG00000233620 | chromatin interactions |
ENSG00000042781 | chromatin interactions |
ENSG00000184678 | chromatin interactions |
ENSG00000184260 | chromatin interactions |
ENSG00000236292 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs3905199 | chr1:215890462-215890463 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs542907290 | chr1:215890484-215890485 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs188704669 | chr1:215890498-215890499 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs3911020 | chr1:215890505-215890506 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
5 | rs147275645 | chr1:215890512-215890513 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs4655286 | chr1:215890513-215890514 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
7 | rs180833046 | chr1:215890517-215890518 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs543424551 | chr1:215890518-215890519 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs185435889 | chr1:215890531-215890532 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs3911021 | chr1:215890588-215890589 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs560657857 | chr1:215890651-215890652 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs4655425 | chr1:215890655-215890656 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
13 | rs549002935 | chr1:215890690-215890691 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs565939585 | chr1:215890749-215890750 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs372643857 | chr1:215890754-215890755 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs143107212 | chr1:215890780-215890781 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs546119710 | chr1:215890836-215890837 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs571379566 | chr1:215890847-215890848 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs537535141 | chr1:215890889-215890890 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs376967201 | chr1:215890913-215890914 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs552574614 | chr1:215890916-215890917 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs190584167 | chr1:215890945-215890946 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs536201908 | chr1:215890965-215890966 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs5780848 | chr1:215890975-215890976 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs371227255 | chr1:215890987-215890988 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs376022485 | chr1:215891025-215891026 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs181974672 | chr1:215891042-215891043 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs559859431 | chr1:215891047-215891048 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs17620843 | chr1:215891174-215891175 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
30 | rs187569824 | chr1:215891175-215891176 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs73084803 | chr1:215891195-215891196 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
32 | rs561763945 | chr1:215891223-215891224 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs549886750 | chr1:215891236-215891237 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs139245669 | chr1:215891237-215891238 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs543495897 | chr1:215891271-215891272 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs536052570 | chr1:215891274-215891275 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs563287279 | chr1:215891279-215891280 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs35962034 | chr1:215891287-215891288 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs529007943 | chr1:215891308-215891309 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs191399602 | chr1:215891315-215891316 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs72740615 | chr1:215891354-215891355 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs116776720 | chr1:215891369-215891370 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs114653933 | chr1:215891384-215891385 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs551419033 | chr1:215891395-215891396 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs73084804 | chr1:215891415-215891416 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
46 | rs149962841 | chr1:215891426-215891427 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs550751672 | chr1:215891430-215891431 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs567615897 | chr1:215891457-215891458 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs536364950 | chr1:215891551-215891552 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs546563865 | chr1:215891644-215891645 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Breast cancer | 17603634 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Schizophrenia | 19415332 | CNVD |
Autism | 22495311 | CNVD |
Melanoma | 18172304 | CNVD |
Rett syndrome | 21593744 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Cancer | 20164919 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 17133270 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Cervical cancer | 21063398 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 20632083 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Medulloblastoma | 21292688 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Breast cancer | 21264507 | CNVD |
Liposarcoma | 21253554 | CNVD |
Multiple myeloma | 21628407 | CNVD |
Cancer | 16751803 | CNVD |
Prostate cancer | 16705090 | CNVD |
Neuroblastoma | 19435921 | CNVD |
Breast cancer | 17850661 | CNVD |
Breast cancer | 16461572 | CNVD |
Intracranial tumor | 16823260 | CNVD |
Medulloblastoma | 18056178 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Neuroblastoma | 21899760 | CNVD |
Breast cancer | 21858162 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Breast cancer | 16608533 | CNVD |
Ewing''s sarcoma | 22429812 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 17001317 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Prostate cancer | 18632612 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Ependymoma | 18628472 | CNVD |
Leukemia | 18628472 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Acute lymphoblastic leukemia | 19100363 | CNVD |
Breast cancer | 21509527 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Chordoma | 18071362 | CNVD |
Multiple myeloma | 16461302 | CNVD |
van der Woude syndrome | 22470819 | CNVD |
van der Woude syndrome | 20818247 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Urothelial tumor | 18831757 | CNVD |
Lung cancer | 18438408 | CNVD |
Ovarian cancer | 21720365 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Ovarian clear cell carcinoma | 19293255 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Holoprosencephaly | 19184110 | CNVD |
Breast cancer | 21069454 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Mental retardation | 19951919 | CNVD |
Non-syndromic sensorineural hearing loss | 17873649 | CNVD |
Acute myeloid leukemia | 17268525 | CNVD |
Lung cancer | 16740712 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Developmental delay | 21147756 | CNVD |
Schizophrenia | 23813976 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Non-syndromic sensorineural hearing loss | 19212409 | CNVD |
Glioma | 20126413 | CNVD |
Pleomorphic liposarcoma | 18784837 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Gastric cancer | 22014070 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Williams Syndrome | 20824207 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:215890400-215890600 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
2 | chr1:215890400-215890800 | Enhancers | NHEK | skin |
3 | chr1:215890600-215893000 | Enhancers | Liver | Liver |
4 | chr1:215890800-215891200 | Enhancers | HepG2 | liver |
5 | chr1:215890800-215892600 | Weak transcription | NHEK | skin |
6 | chr1:215892000-215893400 | Enhancers | Muscle Satellite Cultured Cells | -- |
7 | chr1:215892200-215892600 | Enhancers | NHLF | lung |
8 | chr1:215892200-215893400 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
9 | chr1:215892400-215893600 | Enhancers | NHDF-Ad | bronchial |
10 | chr1:215892400-215894000 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
11 | chr1:215892600-215893400 | Enhancers | NHEK | skin |
12 | chr1:215893000-215893600 | Weak transcription | Liver | Liver |
13 | chr1:215893600-215893800 | Enhancers | Liver | Liver |
14 | chr1:215901400-215902400 | Enhancers | Colon Smooth Muscle | Colon |
15 | chr1:215903600-215905600 | Enhancers | NHDF-Ad | bronchial |
16 | chr1:215903800-215904800 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
17 | chr1:215904000-215905600 | Enhancers | Liver | Liver |
18 | chr1:215904600-215905600 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
19 | chr1:215904600-215905600 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
20 | chr1:215917400-215918200 | Enhancers | Muscle Satellite Cultured Cells | -- |
21 | chr1:215917400-215918400 | Enhancers | HSMM | muscle |
22 | chr1:215917600-215918800 | Enhancers | HSMMtube | muscle |
23 | chr1:215918200-215922200 | Weak transcription | Muscle Satellite Cultured Cells | -- |
24 | chr1:215918800-215922800 | Weak transcription | HSMMtube | muscle |
25 | chr1:215920000-215920400 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
26 | chr1:215921600-215923200 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
27 | chr1:215921800-215923200 | Enhancers | NH-A | brain |
28 | chr1:215921800-215923600 | Enhancers | NHDF-Ad | bronchial |
29 | chr1:215922000-215922400 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
30 | chr1:215922000-215923200 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
31 | chr1:215922000-215923400 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
32 | chr1:215922200-215923600 | Enhancers | Muscle Satellite Cultured Cells | -- |
33 | chr1:215922400-215922600 | Flanking Active TSS | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
34 | chr1:215922400-215923000 | Enhancers | Placenta Amnion | Placenta Amnion |
35 | chr1:215922400-215923200 | Enhancers | Osteobl | bone |
36 | chr1:215922400-215923600 | Enhancers | NHLF | lung |
37 | chr1:215922400-215923800 | Enhancers | HSMM | muscle |
38 | chr1:215922600-215923400 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
39 | chr1:215922800-215923600 | Enhancers | HSMMtube | muscle |
40 | chr1:215923200-215924000 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
41 | chr1:215924000-215924200 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
42 | chr1:215927400-215928200 | Enhancers | Pancreatic Islets | Pancreatic Islet |
43 | chr1:215928200-215928600 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
44 | chr1:215928200-215948800 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
45 | chr1:215939600-215942000 | Enhancers | HUES64 Cell Line | embryonic stem cell |
46 | chr1:215940000-215941200 | Enhancers | HUES48 Cell Line | embryonic stem cell |
47 | chr1:215940000-215943000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
48 | chr1:215940000-215943200 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
49 | chr1:215940400-215941200 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
50 | chr1:215940400-215943000 | Enhancers | HUES6 Cell Line | embryonic stem cell |