Variant report
Variant | nsv540939 |
---|---|
Chromosome Location | chr11:4983908-5036608 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:412)
- CpG islands (count:610)
- Chromatin interactive region (count:55)
- 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 | CEBPB | chr11:5034300-5034593 | A549 | lung: | n/a | chr11:5034438-5034447 chr11:5034436-5034449 chr11:5034436-5034449 chr11:5034438-5034447 chr11:5034438-5034449 chr11:5034438-5034447 chr11:5034438-5034447 chr11:5034436-5034449 chr11:5034436-5034447 |
2 | CEBPB | chr11:5034272-5034625 | IMR90 | lung: | n/a | chr11:5034438-5034447 chr11:5034436-5034449 chr11:5034436-5034449 chr11:5034438-5034447 chr11:5034438-5034449 chr11:5034438-5034447 chr11:5034438-5034447 chr11:5034436-5034449 chr11:5034436-5034447 |
3 | CEBPB | chr11:5034274-5034617 | K562 | blood: | n/a | chr11:5034438-5034447 chr11:5034436-5034449 chr11:5034436-5034449 chr11:5034438-5034447 chr11:5034438-5034449 chr11:5034438-5034447 chr11:5034438-5034447 chr11:5034436-5034449 chr11:5034436-5034447 |
4 | CEBPB | chr11:4994751-4994825 | HepG2 | liver: | n/a | n/a |
5 | CEBPB | chr11:5012391-5012630 | K562 | blood: | n/a | n/a |
6 | CEBPB | chr11:5034279-5034611 | H1-hESC | embryonic stem cell: | n/a | chr11:5034438-5034447 chr11:5034436-5034449 chr11:5034436-5034449 chr11:5034438-5034447 chr11:5034438-5034449 chr11:5034438-5034447 chr11:5034438-5034447 chr11:5034436-5034449 chr11:5034436-5034447 |
7 | CEBPB | chr11:5034276-5034626 | HepG2 | liver: | n/a | chr11:5034438-5034447 chr11:5034436-5034449 chr11:5034436-5034449 chr11:5034438-5034447 chr11:5034438-5034449 chr11:5034438-5034447 chr11:5034438-5034447 chr11:5034436-5034449 chr11:5034436-5034447 |
8 | CHD2 | chr11:5028984-5029015 | H1-hESC | embryonic stem cell: | n/a | n/a |
9 | CTCF | chr11:5025800-5025950 | AG04449 | skin: | n/a | n/a |
10 | CTCF | chr11:5025780-5025930 | RPTEC | kidney: | n/a | n/a |
11 | CTCF | chr11:5012380-5012530 | HAc | cerebellar: | n/a | n/a |
12 | CTCF | chr11:5025800-5025950 | GM12871 | blood: | n/a | n/a |
13 | CTCF | chr11:5012360-5012629 | K562 | blood: | n/a | n/a |
14 | CTCF | chr11:5012420-5012570 | GM12870 | blood: | n/a | n/a |
15 | CTCF | chr11:5025597-5026108 | MCF-7 | breast: | n/a | n/a |
16 | CTCF | chr11:5025800-5025950 | HMF | breast: | n/a | n/a |
17 | CTCF | chr11:5025787-5025941 | GM19239 | blood: | n/a | n/a |
18 | CTCF | chr11:5025800-5025950 | GM12870 | blood: | n/a | n/a |
19 | CTCF | chr11:5012300-5012450 | HAc | cerebellar: | n/a | n/a |
20 | CTCF | chr11:5025676-5026005 | H1-hESC | embryonic stem cell: | n/a | n/a |
21 | CTCF | chr11:5025780-5025930 | BJ | skin: | n/a | n/a |
22 | CTCF | chr11:5012380-5012530 | HCM | heart: | n/a | n/a |
23 | CTCF | chr11:5025760-5025910 | WERI-Rb-1 | eye: | n/a | n/a |
24 | CTCF | chr11:5012380-5012530 | HepG2 | liver: | n/a | n/a |
25 | CTCF | chr11:5012280-5012430 | HVMF | connective: | n/a | n/a |
26 | CTCF | chr11:5012400-5012550 | GM12868 | blood: | n/a | n/a |
27 | CTCF | chr11:5025400-5025550 | HRE | kidney: | n/a | n/a |
28 | CTCF | chr11:5012460-5012610 | GM12871 | blood: | n/a | n/a |
29 | CTCF | chr11:5025800-5025950 | AG10803 | skin: | n/a | n/a |
30 | CTCF | chr11:5012380-5012530 | HMEC | breast: | n/a | n/a |
31 | CTCF | chr11:5025540-5025690 | GM12865 | blood: | n/a | n/a |
32 | CTCF | chr11:5012400-5012550 | SAEC | small airway: | n/a | n/a |
33 | CTCF | chr11:5012384-5012555 | HepG2 | liver: | n/a | n/a |
34 | CTCF | chr11:5012440-5012590 | HRPEpiC | eye: | n/a | n/a |
35 | CTCF | chr11:5012460-5012610 | A549 | lung: | n/a | n/a |
36 | CTCF | chr11:5012360-5012510 | GM12878 | blood: | n/a | n/a |
37 | CTCF | chr11:5025800-5025950 | HVMF | connective: | n/a | n/a |
38 | CTCF | chr11:5025742-5025970 | Hela-S3 | cervix: | n/a | n/a |
39 | CTCF | chr11:5025800-5025950 | WERI-Rb-1 | eye: | n/a | n/a |
40 | CTCF | chr11:5025760-5025910 | GM12873 | blood: | n/a | n/a |
41 | CTCF | chr11:5025800-5025950 | HCPEpiC | choroid plexus: | n/a | n/a |
42 | CTCF | chr11:5025530-5025599 | GM19239 | blood: | n/a | n/a |
43 | CTCF | chr11:5025580-5025730 | GM12872 | blood: | n/a | n/a |
44 | CTCF | chr11:5025760-5025910 | SK-N-SH_RA | brain: | n/a | n/a |
45 | CTCF | chr11:5025749-5025997 | LNCaP | prostate: | n/a | n/a |
46 | CTCF | chr11:5025780-5025930 | HCT-116 | colon: | n/a | n/a |
47 | CTCF | chr11:5025800-5025950 | GM12867 | blood: | n/a | n/a |
48 | CTCF | chr11:5012440-5012590 | GM12865 | blood: | n/a | n/a |
49 | CTCF | chr11:5012440-5012590 | GM12871 | blood: | n/a | n/a |
50 | CTCF | chr11:5025780-5025930 | HEEpiC | esophagus: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr11:5009201-5009251 | A549 | lung: | n/a |
2 | chr11:5009201-5009251 | MCF-7 | breast: | n/a |
3 | chr11:5008411-5008461 | HEEpiC | esophagus: | n/a |
4 | chr11:5019849-5019899 | BE2_C | brain: | n/a |
5 | chr11:5010562-5010612 | GM12878 | blood: | n/a |
6 | chr11:5019849-5019899 | SKMC | muscle: | n/a |
7 | chr11:5013610-5013660 | HIPEpiC | eye: | n/a |
8 | chr11:5009311-5009361 | HCF | heart: | n/a |
9 | chr11:5009311-5009361 | NB4 | blood: | n/a |
10 | chr11:5009489-5009539 | HL-60 | blood: | n/a |
11 | chr11:5013610-5013660 | IMR90 | lung: | fetal |
12 | chr11:5008411-5008461 | AG09319 | gingival: | n/a |
13 | chr11:5020172-5020222 | GM12892 | blood: | n/a |
14 | chr11:5009489-5009539 | GM06990 | blood: | n/a |
15 | chr11:5009201-5009251 | AoSMC | blood vessel: | n/a |
16 | chr11:5009311-5009361 | NHDF-neo | bronchial: | n/a |
17 | chr11:5008936-5008986 | AG04450 | lung: | fetal |
18 | chr11:5009201-5009251 | PrEC | prostate: | n/a |
19 | chr11:5019849-5019899 | NHDF-neo | bronchial: | n/a |
20 | chr11:5008411-5008461 | A549 | lung: | n/a |
21 | chr11:5010562-5010612 | HCPEpiC | choroid plexus: | n/a |
22 | chr11:5020172-5020222 | HUVEC | blood vessel: | n/a |
23 | chr11:5009311-5009361 | PrEC | prostate: | n/a |
24 | chr11:5020172-5020222 | MCF-7 | breast: | n/a |
25 | chr11:5013610-5013660 | NB4 | blood: | n/a |
26 | chr11:5009489-5009539 | PrEC | prostate: | n/a |
27 | chr11:5009489-5009539 | HEEpiC | esophagus: | n/a |
28 | chr11:5020172-5020222 | SK-N-MC | brain: | n/a |
29 | chr11:5020582-5020632 | NHBE | bronchial: | n/a |
30 | chr11:5009489-5009539 | AG10803 | skin: | n/a |
31 | chr11:5010562-5010612 | HRPEpiC | eye: | n/a |
32 | chr11:5008411-5008461 | HAEpiC | amniotic membrane: | n/a |
33 | chr11:5010562-5010612 | AG09309 | skin: | n/a |
34 | chr11:5013610-5013660 | SK-N-SH_RA | brain: | n/a |
35 | chr11:5009489-5009539 | AG04449 | skin: | fetal |
36 | chr11:5020172-5020222 | GM06990 | blood: | n/a |
37 | chr11:5010562-5010612 | MCF10A-Er-Src | breast: | n/a |
38 | chr11:5009201-5009251 | HCM | heart: | n/a |
39 | chr11:5020582-5020632 | U87 | brain: | n/a |
40 | chr11:5019849-5019899 | Caco-2 | colon: | n/a |
41 | chr11:5009489-5009539 | Hepatocyte | liver: | n/a |
42 | chr11:5010562-5010612 | H1-hESC | embryonic stem cell: | embryo |
43 | chr11:5019849-5019899 | U87 | brain: | n/a |
44 | chr11:5019849-5019899 | ProgFib | skin: | n/a |
45 | chr11:5020582-5020632 | HRPEpiC | eye: | n/a |
46 | chr11:5009311-5009361 | RPTEC | kidney: | n/a |
47 | chr11:5019849-5019899 | H1-hESC | embryonic stem cell: | embryo |
48 | chr11:5020582-5020632 | BE2_C | brain: | n/a |
49 | chr11:5008411-5008461 | MCF10A-Er-Src | breast: | n/a |
50 | chr11:5008936-5008986 | MCF10A-Er-Src | breast: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | 11:4988858-5002113..11:5707362-5712027 | Hela-S3 | cervix: | |
2 | 11:4988858-5002113..11:5700314-5707362 | Hela-S3 | cervix: | |
3 | 11:5033143-5038367..11:5566274-5571131 | Hela-S3 | cervix: | |
4 | 11:4988858-5002113..11:5243048-5250847 | Hela-S3 | cervix: | |
5 | 11:5033143-5038367..11:5527719-5533869 | Hela-S3 | cervix: | |
6 | chr11:5002701..5004789-chr11:5011037..5012979,2 | K562 | blood: | |
7 | chr11:4998734..5001673-chr11:5002692..5004874,2 | MCF-7 | breast: | |
8 | chr11:5002701..5004789-chr11:5011037..5012979,2 | K562 | blood: | |
9 | 11:4988858-5002113..11:5721056-5732713 | Hela-S3 | cervix: | |
10 | chr11:4990355..4993246-chr11:4998122..4999862,2 | K562 | blood: | |
11 | 11:4988858-5002113..11:5600743-5604452 | Hela-S3 | cervix: | |
12 | 11:5033143-5038367..11:5363591-5368290 | Hela-S3 | cervix: | |
13 | 11:4988858-5002113..11:5527719-5533869 | Hela-S3 | cervix: | |
14 | chr11:4657777..4658387-chr11:5025582..5026377,4 | MCF-7 | breast: | |
15 | chr11:5016770..5019630-chr11:5023396..5025327,2 | K562 | blood: | |
16 | chr11:4987860..4989604-chr11:4992698..4994558,2 | K562 | blood: | |
17 | chr11:4657872..4658731-chr11:5025387..5026540,3 | K562 | blood: | |
18 | chr11:4658272..4658813-chr11:5025400..5026262,2 | MCF-7 | breast: | |
19 | 11:5018576-5020673..11:5033143-5038367 | GM12878 | blood: | |
20 | chr11:4647199..4648030-chr11:5025327..5026179,2 | K562 | blood: | |
21 | 11:4940074-4947279..11:4988858-5002113 | Hela-S3 | cervix: | |
22 | 11:4988858-5002113..11:5566274-5571131 | Hela-S3 | cervix: | |
23 | 11:4778081-4789138..11:5020673-5032983 | K562 | blood: | |
24 | 11:4988858-5002113..11:5469844-5475173 | Hela-S3 | cervix: | |
25 | chr11:4208282..4208943-chr11:5025361..5026418,3 | K562 | blood: | |
26 | 11:5033143-5038367..11:5714465-5718134 | Hela-S3 | cervix: | |
27 | 11:4789513-4794705..11:4979189-4988077 | K562 | blood: | |
28 | 11:4778081-4789138..11:5033143-5038367 | K562 | blood: | |
29 | 11:5033143-5038367..11:5600743-5604452 | Hela-S3 | cervix: | |
30 | 11:5033143-5038367..11:5721056-5732713 | GM12878 | blood: | |
31 | 11:4789513-4794705..11:5020673-5032983 | K562 | blood: | |
32 | 11:5020673-5032983..11:5721056-5732713 | K562 | blood: | |
33 | 11:4988858-5002113..11:5250847-5268367 | Hela-S3 | cervix: | |
34 | chr11:4657777..4658777-chr11:5012019..5012933,4 | K562 | blood: | |
35 | 11:5033143-5038367..11:5250847-5268367 | Hela-S3 | cervix: | |
36 | 11:4869840-4870943..11:5020673-5032983 | K562 | blood: | |
37 | 11:5033143-5038367..11:5700314-5707362 | K562 | blood: | |
38 | 11:5020673-5032983..11:5700314-5707362 | K562 | blood: | |
39 | 11:5018576-5020673..11:5033143-5038367 | GM12878 | blood: | |
40 | 11:4778081-4789138..11:4988858-5002113 | Hela-S3 | cervix: | |
41 | 11:4988858-5002113..11:5714465-5718134 | Hela-S3 | cervix: | |
42 | chr11:4990355..4993246-chr11:4998122..4999862,2 | K562 | blood: | |
43 | 11:4900708-4903421..11:5020673-5032983 | K562 | blood: | |
44 | chr11:4987860..4989604-chr11:4992698..4994558,2 | K562 | blood: | |
45 | 11:5033143-5038367..11:5243048-5250847 | Hela-S3 | cervix: | |
46 | 11:4988858-5002113..11:5505728-5514500 | Hela-S3 | cervix: | |
47 | 11:4789513-4794705..11:5033143-5038367 | K562 | blood: | |
48 | chr11:5016770..5019630-chr11:5023396..5025327,2 | K562 | blood: | |
49 | chr11:4208337..4209114-chr11:5025486..5026266,2 | MCF-7 | breast: | |
50 | 11:4789513-4794705..11:4988858-5002113 | Hela-S3 | cervix: |
(count:2 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-MMP26-1 | chr11:5010878-5011060 | NONHSAT017654 |
2 | lnc-MMP26-1 | chr11:5009500-5009540 | NONHSAT017654 |
No data |
No data |
Variant related genes | Relation type |
---|---|
OR51L1 | TF binding region |
OR51A5P | TF binding region |
MMP26 | TF binding region |
OR51P1P | TF binding region |
OR51L1 | CpG island |
OR51A5P | CpG island |
MMP26 | CpG island |
OR51P1P | CpG island |
ENSG00000242180 | chromatin interactions |
ENSG00000260629 | chromatin interactions |
ENSG00000176922 | chromatin interactions |
ENSG00000221031 | chromatin interactions |
ENSG00000132274 | chromatin interactions |
ENSG00000176900 | chromatin interactions |
ENSG00000188069 | chromatin interactions |
ENSG00000181609 | chromatin interactions |
ENSG00000224300 | chromatin interactions |
ENSG00000176798 | chromatin interactions |
ENSG00000229988 | chromatin interactions |
ENSG00000187747 | chromatin interactions |
ENSG00000244734 | chromatin interactions |
ENSG00000254480 | chromatin interactions |
ENSG00000176879 | chromatin interactions |
ENSG00000181616 | chromatin interactions |
ENSG00000187918 | chromatin interactions |
ENSG00000175520 | chromatin interactions |
ENSG00000132256 | chromatin interactions |
ENSG00000223609 | chromatin interactions |
ENSG00000167346 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs530769942 | chr11:4983913-4983914 | Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
2 | rs185073191 | chr11:4983927-4983928 | Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
3 | rs112430683 | chr11:4983928-4983929 | Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
4 | rs539714498 | chr11:4983968-4983969 | Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
5 | rs561263596 | chr11:4983971-4983972 | Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
6 | rs117531635 | chr11:4983980-4983981 | Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
7 | rs146877463 | chr11:4984021-4984022 | Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
8 | rs550765186 | chr11:4984036-4984037 | Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
9 | rs570951223 | chr11:4984063-4984064 | Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
10 | rs140692680 | chr11:4984068-4984069 | Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
11 | rs558040095 | chr11:4984071-4984072 | Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
12 | rs573192305 | chr11:4984072-4984073 | Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
13 | rs534169018 | chr11:4984137-4984138 | Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
14 | rs187456168 | chr11:4984141-4984142 | Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
15 | rs145642867 | chr11:4984146-4984147 | Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
16 | rs71050443 | chr11:4984154-4984155 | Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
17 | rs55885795 | chr11:4984228-4984229 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
18 | rs192262791 | chr11:4984244-4984245 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
19 | rs562412316 | chr11:4984246-4984247 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
20 | rs577567723 | chr11:4984268-4984269 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
21 | rs544635663 | chr11:4984286-4984287 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
22 | rs573270676 | chr11:4984318-4984319 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
23 | rs7123513 | chr11:4984364-4984365 | Inactive region | Chromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs527564811 | chr11:4984371-4984372 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
25 | rs549235936 | chr11:4984372-4984373 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
26 | rs112075621 | chr11:4984426-4984427 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
27 | rs7930600 | chr11:4984486-4984487 | Inactive region | Chromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs551059033 | chr11:4984527-4984528 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
29 | rs7945219 | chr11:4984542-4984543 | Inactive region | Chromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
30 | rs539863971 | chr11:4984558-4984559 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
31 | rs36048378 | chr11:4984575-4984576 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
32 | rs112862371 | chr11:4984583-4984584 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
33 | rs555024027 | chr11:4984610-4984611 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
34 | rs6578537 | chr11:4984638-4984639 | Inactive region | Chromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
35 | rs373190233 | chr11:4984685-4984686 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
36 | rs543561804 | chr11:4984715-4984716 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
37 | rs555604411 | chr11:4984726-4984727 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
38 | rs111512350 | chr11:4984729-4984730 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
39 | rs78517282 | chr11:4984740-4984741 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
40 | rs17862844 | chr11:4984746-4984747 | Inactive region | Chromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
41 | rs76283336 | chr11:4984755-4984756 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
42 | rs538007747 | chr11:4984759-4984760 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
43 | rs7107374 | chr11:4984762-4984763 | Inactive region | Chromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
44 | rs577654656 | chr11:4984764-4984765 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
45 | rs545034035 | chr11:4984765-4984766 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
46 | rs577406237 | chr11:4984774-4984775 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
47 | rs537396932 | chr11:4984775-4984776 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
48 | rs553788907 | chr11:4984789-4984790 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
49 | rs6578538 | chr11:4984823-4984824 | Inactive region | Chromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
50 | rs542965941 | chr11:4984846-4984847 | Inactive region | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Neuroblastoma | 18923191 | CNVD |
Breast cancer | 19432969 | CNVD |
Alzheimer''s disease | 17576883 | CNVD |
Long-qt syndrome | 17576883 | CNVD |
Emphysema | 19352772 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Chordoma | 18071362 | CNVD |
Breast cancer | 16608533 | CNVD |
Cancer | 21183584 | CNVD |
Gastric adenocarcinoma | 19115996 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Breast cancer | 17603634 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Melanoma | 18172304 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Wilms tumour | 21544195 | CNVD |
Parathyroid adenoma | 22454399 | CNVD |
Chordoma | 21602918 | CNVD |
Breast cancer | 21949216 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 19222835 | CNVD |
T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Beckwith-Wiedemann syndrome | 21518781 | CNVD |
Wilms tumour | 21518781 | CNVD |
Hepatoblastoma | 21518781 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Gastrointestinal stromal cancer | 17535989 | CNVD |
Paraganglioma | 17535989 | CNVD |
Pulmonary chondroma | 17535989 | CNVD |
Gastric cancer | 17908304 | CNVD |
Barrett''s syndrome | 19417022 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Multiple myeloma | 20724749 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Lung cancer | 18438408 | CNVD |
Autism | 22495311 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
Ovine squamous-cell carcinoma | 17599052 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioma | 17123091 | CNVD |
Lung cancer | 16773561 | CNVD |
Neuroblastoma | 21124317 | CNVD |
Lung adenocarcinoma | 17086460 | CNVD |
Lung cancer | 17086460 | CNVD |
Schizophrenia | 21399695 | CNVD |
Gastric cancer | 16891809 | CNVD |
Cancer | 17160897 | CNVD |
Multiple myeloma | 16616336 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Breast cancer | 21364760 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr11:4983800-4984200 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
2 | chr11:4986800-4987200 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
3 | chr11:4987200-4988200 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
4 | chr11:4988200-4988400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
5 | chr11:5000200-5001000 | Enhancers | Fetal Lung | lung |
6 | chr11:5000400-5001400 | Enhancers | Fetal Muscle Leg | muscle |
7 | chr11:5001000-5004000 | Weak transcription | Fetal Lung | lung |
8 | chr11:5002600-5005400 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
9 | chr11:5004000-5005800 | Enhancers | Fetal Lung | lung |
10 | chr11:5005400-5005600 | Enhancers | Pancreatic Islets | Pancreatic Islet |
11 | chr11:5009200-5009400 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
12 | chr11:5010800-5011200 | Active TSS | Spleen | Spleen |
13 | chr11:5020400-5020800 | Active TSS | Brain Substantia Nigra | brain |
14 | chr11:5025800-5026400 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
15 | chr11:5026000-5026800 | Enhancers | NHEK | skin |
16 | chr11:5026200-5026800 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
17 | chr11:5026200-5026800 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
18 | chr11:5026200-5026800 | Enhancers | HMEC | breast |
19 | chr11:5026400-5026800 | Flanking Active TSS | Foreskin Keratinocyte Primary Cells skin02 | Skin |
20 | chr11:5033000-5033800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |