Variant report
Variant | nsv540940 |
---|---|
Chromosome Location | chr11:5000771-5036608 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:403)
- CpG islands (count:610)
- Chromatin interactive region (count:49)
- 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 | chr11:5012391-5012630 | K562 | blood: | n/a | n/a |
3 | 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 |
4 | 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 |
5 | 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 |
6 | 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 |
7 | CHD2 | chr11:5028984-5029015 | H1-hESC | embryonic stem cell: | n/a | n/a |
8 | CTCF | chr11:5025800-5025950 | GM12867 | blood: | n/a | n/a |
9 | CTCF | chr11:5025762-5026006 | Pancreas_OC | pancreas: | n/a | n/a |
10 | CTCF | chr11:5012374-5012566 | H1-hESC | embryonic stem cell: | n/a | n/a |
11 | CTCF | chr11:5025820-5025970 | HA-sp | spinal cord: | n/a | n/a |
12 | CTCF | chr11:5025736-5025984 | Medullo | brain: | n/a | n/a |
13 | CTCF | chr11:5025800-5025950 | HMF | breast: | n/a | n/a |
14 | CTCF | chr11:5025760-5025910 | HRPEpiC | eye: | n/a | n/a |
15 | CTCF | chr11:5012480-5012630 | AoAF | blood vessel: | n/a | n/a |
16 | CTCF | chr11:5025725-5025945 | A549 | lung: | n/a | n/a |
17 | CTCF | chr11:5012300-5012450 | HAc | cerebellar: | n/a | n/a |
18 | CTCF | chr11:5025751-5025959 | Spleen_OC | spleen: | n/a | n/a |
19 | CTCF | chr11:5025760-5025910 | HPAF | blood vessel: | n/a | n/a |
20 | CTCF | chr11:5025800-5025950 | SAEC | small airway: | n/a | n/a |
21 | CTCF | chr11:5012400-5012550 | HVMF | connective: | n/a | n/a |
22 | CTCF | chr11:5025800-5025950 | HBMEC | blood vessel: | n/a | n/a |
23 | CTCF | chr11:5013800-5013950 | HMEC | breast: | n/a | n/a |
24 | CTCF | chr11:5025802-5025951 | GM19238 | blood: | n/a | n/a |
25 | CTCF | chr11:5012420-5012570 | RPTEC | kidney: | n/a | n/a |
26 | CTCF | chr11:5025650-5026030 | K562 | blood: | n/a | n/a |
27 | CTCF | chr11:5025681-5026016 | K562 | blood: | n/a | n/a |
28 | CTCF | chr11:5012420-5012570 | AG04449 | skin: | n/a | n/a |
29 | CTCF | chr11:5012220-5012370 | HCM | heart: | n/a | n/a |
30 | CTCF | chr11:5012420-5012587 | LNCaP | prostate: | n/a | n/a |
31 | CTCF | chr11:5025760-5025910 | HAc | cerebellar: | n/a | n/a |
32 | CTCF | chr11:5025540-5025690 | GM12865 | blood: | n/a | n/a |
33 | CTCF | chr11:5025760-5025910 | HL-60 | blood: | n/a | n/a |
34 | CTCF | chr11:5025859-5025886 | MCF-7 | breast: | n/a | n/a |
35 | CTCF | chr11:5025780-5025930 | GM12871 | blood: | n/a | n/a |
36 | CTCF | chr11:5012380-5012530 | HMEC | breast: | n/a | n/a |
37 | CTCF | chr11:5025553-5026079 | HCT-116 | colon: | n/a | n/a |
38 | CTCF | chr11:5012460-5012610 | GM12866 | blood: | n/a | n/a |
39 | CTCF | chr11:5012440-5012590 | GM12867 | blood: | n/a | n/a |
40 | CTCF | chr11:5012420-5012570 | NHDF-neo | bronchial: | n/a | n/a |
41 | CTCF | chr11:5012400-5012550 | HPF | lung: | n/a | n/a |
42 | CTCF | chr11:5012380-5012530 | HRE | kidney: | n/a | n/a |
43 | CTCF | chr11:5025800-5025950 | AG04449 | skin: | n/a | n/a |
44 | CTCF | chr11:5012440-5012590 | GM12873 | blood: | n/a | n/a |
45 | CTCF | chr11:5012447-5012559 | MCF-7 | breast: | n/a | n/a |
46 | CTCF | chr11:5025631-5026073 | A549 | lung: | n/a | n/a |
47 | CTCF | chr11:5012320-5012470 | HFF | foreskin: | n/a | n/a |
48 | CTCF | chr11:5025763-5025948 | A549 | lung: | n/a | n/a |
49 | CTCF | chr11:5025657-5026057 | GM12878 | blood: | n/a | n/a |
50 | CTCF | chr11:5025676-5026005 | H1-hESC | embryonic stem cell: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr11:5013610-5013660 | GM12892 | blood: | n/a |
2 | chr11:5009201-5009251 | HCM | heart: | n/a |
3 | chr11:5009311-5009361 | SK-N-SH_RA | brain: | n/a |
4 | chr11:5020582-5020632 | AG10803 | skin: | n/a |
5 | chr11:5008411-5008461 | T-47D | breast: | n/a |
6 | chr11:5009311-5009361 | GM12878 | blood: | n/a |
7 | chr11:5009311-5009361 | HepG2 | liver: | n/a |
8 | chr11:5009201-5009251 | NHBE | bronchial: | n/a |
9 | chr11:5009311-5009361 | CMK | blood: | n/a |
10 | chr11:5009489-5009539 | HAEpiC | amniotic membrane: | n/a |
11 | chr11:5008411-5008461 | HAEpiC | amniotic membrane: | n/a |
12 | chr11:5009201-5009251 | GM12878 | blood: | n/a |
13 | chr11:5020172-5020222 | HIPEpiC | eye: | n/a |
14 | chr11:5009201-5009251 | SAEC | small airway: | n/a |
15 | chr11:5019849-5019899 | HL-60 | blood: | n/a |
16 | chr11:5009489-5009539 | HRCEpiC | kidney: | n/a |
17 | chr11:5009201-5009251 | ovcar-3 | ovarian: | n/a |
18 | chr11:5010562-5010612 | SK-N-SH_RA | brain: | n/a |
19 | chr11:5020172-5020222 | AG09309 | skin: | n/a |
20 | chr11:5009489-5009539 | BE2_C | brain: | n/a |
21 | chr11:5010562-5010612 | HL-60 | blood: | n/a |
22 | chr11:5020582-5020632 | AG09319 | gingival: | n/a |
23 | chr11:5009201-5009251 | HCPEpiC | choroid plexus: | n/a |
24 | chr11:5009201-5009251 | AG09309 | skin: | n/a |
25 | chr11:5020172-5020222 | GM12891 | blood: | n/a |
26 | chr11:5008936-5008986 | GM12878 | blood: | n/a |
27 | chr11:5008411-5008461 | HEK293 | kidney: | embryo |
28 | chr11:5013610-5013660 | HCM | heart: | n/a |
29 | chr11:5020172-5020222 | SK-N-SH_RA | brain: | n/a |
30 | chr11:5019849-5019899 | HIPEpiC | eye: | n/a |
31 | chr11:5008411-5008461 | GM12878 | blood: | n/a |
32 | chr11:5008936-5008986 | HCT-116 | colon: | n/a |
33 | chr11:5013610-5013660 | HCT-116 | colon: | n/a |
34 | chr11:5013610-5013660 | ECC-1 | luminal epithelium: | n/a |
35 | chr11:5019849-5019899 | HNPCEpiC | eye: | n/a |
36 | chr11:5020172-5020222 | RPTEC | kidney: | n/a |
37 | chr11:5009489-5009539 | SKMC | muscle: | n/a |
38 | chr11:5008411-5008461 | HRE | kidney: | n/a |
39 | chr11:5008411-5008461 | HNPCEpiC | eye: | n/a |
40 | chr11:5020582-5020632 | HCPEpiC | choroid plexus: | n/a |
41 | chr11:5013610-5013660 | SAEC | small airway: | n/a |
42 | chr11:5008411-5008461 | PANC-1 | pancreas: | n/a |
43 | chr11:5009311-5009361 | HRE | kidney: | n/a |
44 | chr11:5020582-5020632 | NT2-D1 | testis: | n/a |
45 | chr11:5020582-5020632 | SK-N-SH_RA | brain: | n/a |
46 | chr11:5010562-5010612 | HIPEpiC | eye: | n/a |
47 | chr11:5019849-5019899 | NT2-D1 | testis: | n/a |
48 | chr11:5008411-5008461 | PrEC | prostate: | n/a |
49 | chr11:5020172-5020222 | GM12878 | blood: | n/a |
50 | chr11:5009311-5009361 | GM12891 | blood: | n/a |
(count:49 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | 11:5033143-5038367..11:5721056-5732713 | GM12878 | blood: | |
2 | 11:4988858-5002113..11:5527719-5533869 | Hela-S3 | cervix: | |
3 | 11:5033143-5038367..11:5600743-5604452 | Hela-S3 | cervix: | |
4 | 11:4988858-5002113..11:5250847-5268367 | Hela-S3 | cervix: | |
5 | 11:4988858-5002113..11:5721056-5732713 | Hela-S3 | cervix: | |
6 | 11:5033143-5038367..11:5243048-5250847 | Hela-S3 | cervix: | |
7 | 11:5033143-5038367..11:5527719-5533869 | Hela-S3 | cervix: | |
8 | chr11:5002701..5004789-chr11:5011037..5012979,2 | K562 | blood: | |
9 | 11:5020673-5032983..11:5721056-5732713 | K562 | blood: | |
10 | chr11:5002701..5004789-chr11:5011037..5012979,2 | K562 | blood: | |
11 | 11:4940074-4947279..11:4988858-5002113 | Hela-S3 | cervix: | |
12 | 11:4900708-4903421..11:5020673-5032983 | K562 | blood: | |
13 | chr11:4647527..4648151-chr11:5025801..5026495,2 | MCF-7 | breast: | |
14 | 11:5033143-5038367..11:5714465-5718134 | Hela-S3 | cervix: | |
15 | 11:4778081-4789138..11:4988858-5002113 | Hela-S3 | cervix: | |
16 | chr11:4208337..4209114-chr11:5025486..5026266,2 | MCF-7 | breast: | |
17 | 11:4789513-4794705..11:4988858-5002113 | Hela-S3 | cervix: | |
18 | 11:5018576-5020673..11:5033143-5038367 | GM12878 | blood: | |
19 | 11:5020673-5032983..11:5527719-5533869 | K562 | blood: | |
20 | 11:4778081-4789138..11:5020673-5032983 | K562 | blood: | |
21 | chr11:4658272..4658813-chr11:5025400..5026262,2 | MCF-7 | breast: | |
22 | 11:4988858-5002113..11:5505728-5514500 | Hela-S3 | cervix: | |
23 | chr11:5016770..5019630-chr11:5023396..5025327,2 | K562 | blood: | |
24 | chr11:4647199..4648030-chr11:5025327..5026179,2 | K562 | blood: | |
25 | chr11:5016770..5019630-chr11:5023396..5025327,2 | K562 | blood: | |
26 | 11:4789513-4794705..11:5033143-5038367 | K562 | blood: | |
27 | 11:4988858-5002113..11:5707362-5712027 | Hela-S3 | cervix: | |
28 | 11:4869840-4870943..11:5020673-5032983 | K562 | blood: | |
29 | 11:5020673-5032983..11:5566274-5571131 | K562 | blood: | |
30 | 11:5033143-5038367..11:5700314-5707362 | K562 | blood: | |
31 | 11:4988858-5002113..11:5469844-5475173 | Hela-S3 | cervix: | |
32 | 11:5018576-5020673..11:5033143-5038367 | GM12878 | blood: | |
33 | 11:4789513-4794705..11:5020673-5032983 | K562 | blood: | |
34 | 11:5033143-5038367..11:5250847-5268367 | Hela-S3 | cervix: | |
35 | chr11:4998734..5001673-chr11:5002692..5004874,2 | MCF-7 | breast: | |
36 | 11:4988858-5002113..11:5700314-5707362 | Hela-S3 | cervix: | |
37 | chr11:4208282..4208943-chr11:5025361..5026418,3 | K562 | blood: | |
38 | 11:5033143-5038367..11:5566274-5571131 | Hela-S3 | cervix: | |
39 | chr11:4657872..4658731-chr11:5025387..5026540,3 | K562 | blood: | |
40 | 11:5020673-5032983..11:5700314-5707362 | K562 | blood: | |
41 | 11:4988858-5002113..11:5600743-5604452 | Hela-S3 | cervix: | |
42 | 11:4988858-5002113..11:5566274-5571131 | Hela-S3 | cervix: | |
43 | chr11:4657777..4658387-chr11:5025582..5026377,4 | MCF-7 | breast: | |
44 | chr11:4998734..5001673-chr11:5002692..5004874,2 | MCF-7 | breast: | |
45 | 11:4988858-5002113..11:5714465-5718134 | Hela-S3 | cervix: | |
46 | 11:4988858-5002113..11:5243048-5250847 | Hela-S3 | cervix: | |
47 | chr11:4657777..4658777-chr11:5012019..5012933,4 | K562 | blood: | |
48 | 11:4778081-4789138..11:5033143-5038367 | K562 | blood: | |
49 | 11:5033143-5038367..11:5363591-5368290 | Hela-S3 | cervix: |
(count:2 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-MMP26-1 | chr11:5009500-5009540 | NONHSAT017654 |
2 | lnc-MMP26-1 | chr11:5010878-5011060 | NONHSAT017654 |
No data |
No data |
Variant related genes | Relation type |
---|---|
OR51L1 | TF binding region |
MMP26 | TF binding region |
OR51P1P | TF binding region |
OR51L1 | CpG island |
MMP26 | CpG island |
OR51P1P | CpG island |
ENSG00000187747 | chromatin interactions |
ENSG00000221031 | chromatin interactions |
ENSG00000242180 | chromatin interactions |
ENSG00000167346 | chromatin interactions |
ENSG00000176900 | chromatin interactions |
ENSG00000176798 | chromatin interactions |
ENSG00000244734 | chromatin interactions |
ENSG00000132274 | chromatin interactions |
ENSG00000176922 | chromatin interactions |
ENSG00000254480 | chromatin interactions |
ENSG00000181616 | chromatin interactions |
ENSG00000188069 | chromatin interactions |
ENSG00000187918 | chromatin interactions |
ENSG00000176879 | chromatin interactions |
ENSG00000260629 | chromatin interactions |
ENSG00000175520 | chromatin interactions |
ENSG00000132256 | chromatin interactions |
ENSG00000223609 | chromatin interactions |
ENSG00000181609 | chromatin interactions |
ENSG00000229988 | chromatin interactions |
ENSG00000224300 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs540491810 | chr11:5000872-5000873 | Enhancers | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
2 | rs561865457 | chr11:5000887-5000888 | Enhancers | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
3 | rs529056334 | chr11:5000911-5000912 | Enhancers | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
4 | rs74054422 | chr11:5000916-5000917 | Enhancers | Chromatin interactive region | 15 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
5 | rs570157869 | chr11:5000988-5000989 | Enhancers | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
6 | rs530966654 | chr11:5001035-5001036 | Weak transcription Enhancers | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
7 | rs186893584 | chr11:5001077-5001078 | Weak transcription Enhancers | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
8 | rs372882188 | chr11:5001078-5001079 | Weak transcription Enhancers | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
9 | rs190165284 | chr11:5001102-5001103 | Weak transcription Enhancers | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
10 | rs377713307 | chr11:5001115-5001116 | Weak transcription Enhancers | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
11 | rs140279779 | chr11:5001122-5001123 | Weak transcription Enhancers | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
12 | rs371327188 | chr11:5001136-5001137 | Weak transcription Enhancers | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
13 | rs553584747 | chr11:5001159-5001160 | Weak transcription Enhancers | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
14 | rs568326567 | chr11:5001160-5001161 | Weak transcription Enhancers | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
15 | rs74054423 | chr11:5001175-5001176 | Weak transcription Enhancers | Chromatin interactive region | 15 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
16 | rs7104839 | chr11:5001255-5001256 | Weak transcription Enhancers | Chromatin interactive region | 15 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
17 | rs574977866 | chr11:5001388-5001389 | Weak transcription Enhancers | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
18 | rs115742431 | chr11:5001465-5001466 | Weak transcription | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
19 | rs370381367 | chr11:5001466-5001467 | Weak transcription | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
20 | rs536676410 | chr11:5001517-5001518 | Weak transcription | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
21 | rs7104280 | chr11:5001570-5001571 | Weak transcription | Chromatin interactive region | 15 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
22 | rs540163747 | chr11:5001573-5001574 | Weak transcription | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
23 | rs56048423 | chr11:5001639-5001640 | Weak transcription | Chromatin interactive region | 15 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs117766747 | chr11:5001645-5001646 | Weak transcription | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
25 | rs78345291 | chr11:5001674-5001675 | Weak transcription | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
26 | rs149967692 | chr11:5001678-5001679 | Weak transcription | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
27 | rs61661806 | chr11:5001687-5001688 | Weak transcription | Chromatin interactive region | 15 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs182643438 | chr11:5001688-5001689 | Weak transcription | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
29 | rs146515451 | chr11:5001712-5001713 | Weak transcription | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
30 | rs552138902 | chr11:5001767-5001768 | Weak transcription | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
31 | rs546931417 | chr11:5001769-5001770 | Weak transcription | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
32 | rs75619767 | chr11:5001799-5001800 | Weak transcription | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
33 | rs566071270 | chr11:5001818-5001819 | Weak transcription | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
34 | rs187602322 | chr11:5001823-5001824 | Weak transcription | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
35 | rs7108624 | chr11:5001831-5001832 | Weak transcription | Chromatin interactive region | 15 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
36 | rs569406006 | chr11:5001886-5001887 | Weak transcription | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
37 | rs193249098 | chr11:5001898-5001899 | Weak transcription | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
38 | rs74849234 | chr11:5001899-5001900 | Weak transcription | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
39 | rs185695241 | chr11:5001928-5001929 | Weak transcription | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
40 | rs533777565 | chr11:5001996-5001997 | Weak transcription | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
41 | rs200053641 | chr11:5002005-5002006 | Weak transcription | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
42 | rs555724354 | chr11:5002006-5002007 | Weak transcription | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
43 | rs143870689 | chr11:5002010-5002011 | Weak transcription | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
44 | rs34370811 | chr11:5002011-5002012 | Weak transcription | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
45 | rs201583593 | chr11:5002013-5002014 | Weak transcription | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
46 | rs187448942 | chr11:5002031-5002032 | Weak transcription | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
47 | rs141065059 | chr11:5002068-5002069 | Weak transcription | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
48 | rs141387281 | chr11:5002096-5002097 | Weak transcription | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
49 | rs369753006 | chr11:5002098-5002099 | Weak transcription | Chromatin interactive region | 15 gene(s) | Overlapped CNVs | n/a |
50 | rs548359337 | chr11:5002127-5002128 | Weak transcription | n/a | n/a | 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 |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr11:5000200-5001000 | Enhancers | Fetal Lung | lung |
2 | chr11:5000400-5001400 | Enhancers | Fetal Muscle Leg | muscle |
3 | chr11:5001000-5004000 | Weak transcription | Fetal Lung | lung |
4 | chr11:5002600-5005400 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
5 | chr11:5004000-5005800 | Enhancers | Fetal Lung | lung |
6 | chr11:5005400-5005600 | Enhancers | Pancreatic Islets | Pancreatic Islet |
7 | chr11:5009200-5009400 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
8 | chr11:5010800-5011200 | Active TSS | Spleen | Spleen |
9 | chr11:5020400-5020800 | Active TSS | Brain Substantia Nigra | brain |
10 | chr11:5025800-5026400 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
11 | chr11:5026000-5026800 | Enhancers | NHEK | skin |
12 | chr11:5026200-5026800 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
13 | chr11:5026200-5026800 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
14 | chr11:5026200-5026800 | Enhancers | HMEC | breast |
15 | chr11:5026400-5026800 | Flanking Active TSS | Foreskin Keratinocyte Primary Cells skin02 | Skin |
16 | chr11:5033000-5033800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |