Variant report
Variant | nsv1064293 |
---|---|
Chromosome Location | chr17:18289643-18465209 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:971)
- CpG islands (count:1528)
- Chromatin interactive region (count:2)
- LncRNA region (count:90)
- 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 | ATF2 | chr17:18314118-18314356 | H1-hESC | embryonic stem cell: | n/a | n/a |
2 | BACH1 | chr17:18355389-18355575 | H1-hESC | embryonic stem cell: | n/a | n/a |
3 | BACH1 | chr17:18362390-18362672 | H1-hESC | embryonic stem cell: | n/a | n/a |
4 | BATF | chr17:18396335-18396562 | GM12878 | blood: | n/a | chr17:18396479-18396490 |
5 | BATF | chr17:18411051-18411300 | GM12878 | blood: | n/a | chr17:18411156-18411166 chr17:18411155-18411166 |
6 | BATF | chr17:18396259-18396664 | GM12878 | blood: | n/a | chr17:18396479-18396490 |
7 | BATF | chr17:18301531-18301764 | GM12878 | blood: | n/a | n/a |
8 | BATF | chr17:18379787-18380078 | GM12878 | blood: | n/a | n/a |
9 | BATF | chr17:18410950-18411370 | GM12878 | blood: | n/a | chr17:18411156-18411166 chr17:18411155-18411166 |
10 | BATF | chr17:18306799-18307466 | GM12878 | blood: | n/a | n/a |
11 | BATF | chr17:18306836-18307314 | GM12878 | blood: | n/a | n/a |
12 | BATF | chr17:18379801-18380128 | GM12878 | blood: | n/a | n/a |
13 | BCL11A | chr17:18378052-18378384 | GM12878 | blood: | n/a | n/a |
14 | BCL11A | chr17:18379766-18380162 | GM12878 | blood: | n/a | n/a |
15 | BCL11A | chr17:18306873-18307246 | GM12878 | blood: | n/a | n/a |
16 | BCL11A | chr17:18306911-18307191 | GM12878 | blood: | n/a | n/a |
17 | BCL11A | chr17:18379825-18380074 | GM12878 | blood: | n/a | n/a |
18 | BCL11A | chr17:18424410-18424651 | GM12878 | blood: | n/a | n/a |
19 | BCL3 | chr17:18314773-18315245 | A549 | lung: | n/a | n/a |
20 | BHLHE40 | chr17:18396537-18396565 | K562 | blood: | n/a | n/a |
21 | BHLHE40 | chr17:18424672-18424862 | GM12878 | blood: | n/a | n/a |
22 | CEBPB | chr17:18322048-18322324 | K562 | blood: | n/a | n/a |
23 | CEBPB | chr17:18318052-18318134 | A549 | lung: | n/a | chr17:18318100-18318113 chr17:18318102-18318113 chr17:18318102-18318111 |
24 | CEBPB | chr17:18317946-18318165 | IMR90 | lung: | n/a | chr17:18318100-18318113 chr17:18318102-18318113 chr17:18318102-18318111 |
25 | CEBPB | chr17:18362356-18362662 | IMR90 | lung: | n/a | chr17:18362363-18362376 |
26 | CEBPB | chr17:18322037-18322380 | K562 | blood: | n/a | n/a |
27 | CEBPB | chr17:18322055-18322251 | K562 | blood: | n/a | n/a |
28 | CEBPB | chr17:18362210-18362602 | Hela-S3 | cervix: | n/a | chr17:18362363-18362376 |
29 | CHD1 | chr17:18315013-18315207 | H1-hESC | embryonic stem cell: | n/a | n/a |
30 | CHD2 | chr17:18314139-18314423 | H1-hESC | embryonic stem cell: | n/a | n/a |
31 | CTCF | chr17:18309225-18309284 | MCF-7 | breast: | n/a | n/a |
32 | CTCF | chr17:18345514-18345751 | A549 | lung: | n/a | n/a |
33 | CTCF | chr17:18345520-18345670 | GM12871 | blood: | n/a | n/a |
34 | CTCF | chr17:18330431-18330574 | Spleen_OC | spleen: | n/a | n/a |
35 | CTCF | chr17:18345537-18345719 | Hela-S3 | cervix: | n/a | n/a |
36 | CTCF | chr17:18381245-18381312 | MCF-7 | breast: | n/a | chr17:18381256-18381277 chr17:18381261-18381279 chr17:18381264-18381274 chr17:18381262-18381278 |
37 | CTCF | chr17:18348546-18348582 | LNCaP | prostate: | n/a | n/a |
38 | CTCF | chr17:18345520-18345670 | GM12872 | blood: | n/a | n/a |
39 | CTCF | chr17:18345520-18345670 | GM12867 | blood: | n/a | n/a |
40 | CTCF | chr17:18355394-18355409 | MCF-7 | breast: | n/a | n/a |
41 | CTCF | chr17:18345521-18345741 | LNCaP | prostate: | n/a | n/a |
42 | CTCF | chr17:18400595-18400599 | GM13976 | blood: | n/a | n/a |
43 | CTCF | chr17:18394369-18394577 | A549 | lung: | n/a | chr17:18394491-18394500 chr17:18394515-18394528 chr17:18394513-18394531 chr17:18394519-18394528 |
44 | CTCF | chr17:18345503-18345766 | GM19240 | blood: | n/a | n/a |
45 | CTCF | chr17:18418276-18418321 | GM20000 | blood: | n/a | n/a |
46 | CTCF | chr17:18345520-18345807 | GM13977 | blood: | n/a | n/a |
47 | CTCF | chr17:18400380-18400530 | AG10803 | skin: | n/a | n/a |
48 | CTCF | chr17:18428481-18428586 | GM19238 | blood: | n/a | chr17:18428545-18428561 chr17:18428546-18428567 |
49 | CTCF | chr17:18343043-18343108 | Lung_OC | lung: | n/a | n/a |
50 | CTCF | chr17:18403723-18403897 | GM19238 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr17:18432149-18432199 | GM12891 | blood: | n/a |
2 | chr17:18324895-18324945 | MCF10A-Er-Src | breast: | n/a |
3 | chr17:18313048-18313098 | HRE | kidney: | n/a |
4 | chr17:18432149-18432199 | GM12891 | blood: | n/a |
5 | chr17:18324895-18324945 | MCF10A-Er-Src | breast: | n/a |
6 | chr17:18313048-18313098 | HRE | kidney: | n/a |
7 | chr17:18421335-18421385 | IMR90 | lung: | fetal |
8 | chr17:18305305-18305355 | NT2-D1 | testis: | n/a |
9 | chr17:18295503-18295553 | U87 | brain: | n/a |
10 | chr17:18380354-18380404 | HAEpiC | amniotic membrane: | n/a |
11 | chr17:18291699-18291749 | Caco-2 | colon: | n/a |
12 | chr17:18378879-18378929 | NHBE | bronchial: | n/a |
13 | chr17:18421335-18421385 | SKMC | muscle: | n/a |
14 | chr17:18421335-18421385 | HEEpiC | esophagus: | n/a |
15 | chr17:18397849-18397899 | GM06990 | blood: | n/a |
16 | chr17:18295431-18295481 | K562 | blood: | n/a |
17 | chr17:18432149-18432199 | BJ | skin: | n/a |
18 | chr17:18397849-18397899 | HMEC | breast: | n/a |
19 | chr17:18429951-18430001 | ovcar-3 | ovarian: | n/a |
20 | chr17:18317909-18317959 | HAEpiC | amniotic membrane: | n/a |
21 | chr17:18302510-18302560 | T-47D | breast: | n/a |
22 | chr17:18430908-18430958 | SAEC | small airway: | n/a |
23 | chr17:18326064-18326114 | GM12892 | blood: | n/a |
24 | chr17:18317909-18317959 | HRPEpiC | eye: | n/a |
25 | chr17:18313121-18313171 | HCF | heart: | n/a |
26 | chr17:18380354-18380404 | HMEC | breast: | n/a |
27 | chr17:18324895-18324945 | AG09309 | skin: | n/a |
28 | chr17:18380354-18380404 | GM06990 | blood: | n/a |
29 | chr17:18421335-18421385 | NB4 | blood: | n/a |
30 | chr17:18428092-18428142 | HUVEC | blood vessel: | n/a |
31 | chr17:18378879-18378929 | AG10803 | skin: | n/a |
32 | chr17:18313121-18313171 | HAEpiC | amniotic membrane: | n/a |
33 | chr17:18325001-18325051 | GM12878 | blood: | n/a |
34 | chr17:18421335-18421385 | HRCEpiC | kidney: | n/a |
35 | chr17:18290668-18290718 | AG10803 | skin: | n/a |
36 | chr17:18430908-18430958 | HPAEpiC | pulmonary alveolar: | n/a |
37 | chr17:18324895-18324945 | NH-A | brain: | n/a |
38 | chr17:18380159-18380209 | PANC-1 | pancreas: | n/a |
39 | chr17:18295503-18295553 | BE2_C | brain: | n/a |
40 | chr17:18324790-18324840 | AG09319 | gingival: | n/a |
41 | chr17:18305305-18305355 | NB4 | blood: | n/a |
42 | chr17:18317909-18317959 | AG10803 | skin: | n/a |
43 | chr17:18326064-18326114 | SAEC | small airway: | n/a |
44 | chr17:18397849-18397899 | HEK293 | kidney: | embryo |
45 | chr17:18324790-18324840 | HNPCEpiC | eye: | n/a |
46 | chr17:18291699-18291749 | SAEC | small airway: | n/a |
47 | chr17:18379129-18379179 | HMEC | breast: | n/a |
48 | chr17:18428092-18428142 | LNCaP | prostate: | n/a |
49 | chr17:18325001-18325051 | HCPEpiC | choroid plexus: | n/a |
50 | chr17:18324790-18324840 | MCF10A-Er-Src | breast: | n/a |
(count:2 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-FAM106A-2 | chr17:18436661-18436705 | ENSG00000273018.1 |
2 | lnc-FAM106A-2 | chr17:18445402-18445501 | ENSG00000273018.1 |
3 | lnc-AL353997.5.1-6 | chr17:18395483-18395859 | NONHSAT146378 |
4 | lnc-AL353997.5.1-4 | chr17:18343220-18343625 | NONHSAT146373 |
5 | lnc-AL353997.5.1-6 | chr17:18395939-18396053 | NONHSAT146378 |
6 | lnc-AL353997.1-1 | chr17:18289718-18289778 | NONHSAT146194 |
7 | lnc-FAM106A-2 | chr17:18436661-18436946 | ENSG00000273018.1 |
8 | lnc-FAM106A-2 | chr17:18446183-18446301 | ENSG00000273018.1 |
9 | lnc-FAM106A-2 | chr17:18422796-18422988 | ENSG00000273018.1 |
10 | lnc-FAM106A-2 | chr17:18420696-18420787 | ENSG00000273018.1 |
11 | lnc-FAM106A-2 | chr17:18435820-18435911 | ENSG00000273018.1 |
12 | lnc-FAM106A-2 | chr17:18435820-18436348 | ENSG00000273018.1 |
13 | lnc-FAM106A-2 | chr17:18454820-18455008 | ENSG00000273018.1 |
14 | lnc-FAM106A-2 | chr17:18445402-18445501 | ENSG00000273018.1 |
15 | lnc-FAM106A-2 | chr17:18422796-18422988 | NONHSAT146382 |
16 | lnc-FAM106A-2 | chr17:18436395-18436705 | NONHSAT146384 |
17 | lnc-FAM106A-2 | chr17:18454820-18455019 | ENSG00000273018.1 |
18 | lnc-FAM106A-2 | chr17:18446987-18447029 | ENSG00000273018.1 |
19 | lnc-FAM106A-2 | chr17:18426379-18426609 | NONHSAT146382 |
20 | lnc-FAM106A-2 | chr17:18431887-18432642 | ENSG00000273018.1 |
21 | lnc-AL353997.5.1-1 | chr17:18327635-18327951 | ENSG00000205266.5 |
22 | lnc-FAM106A-2 | chr17:18436661-18437376 | ENSG00000273018.1 |
23 | lnc-AL353997.5.1-2 | chr17:18315660-18315823 | XLOC_012131 |
24 | lnc-AL353997.5.1-5 | chr17:18380114-18380207 | NONHSAT146376 |
25 | lnc-FAM106A-2 | chr17:18431887-18432126 | NONHSAT146381 |
26 | lnc-FAM106A-2 | chr17:18444241-18444277 | NONHSAT146384 |
27 | lnc-AL353997.5.1-4 | chr17:18343740-18343831 | NONHSAT146373 |
28 | lnc-FAM106A-1 | chr17:18427880-18430160 | NR_026809 |
29 | lnc-AL353997.1-1 | chr17:18291533-18291602 | NONHSAT146194 |
30 | lnc-FAM106A-2 | chr17:18431887-18432061 | ENSG00000273018.1 |
31 | lnc-FAM106A-2 | chr17:18422796-18422988 | ENSG00000273018.1 |
32 | lnc-FAM106A-2 | chr17:18435820-18435911 | ENSG00000273018.1 |
33 | lnc-FAM106A-2 | chr17:18424393-18424459 | ENSG00000273018.1 |
34 | lnc-FAM106A-2 | chr17:18430884-18431074 | ENSG00000273018.1 |
35 | lnc-FAM106A-2 | chr17:18446987-18447029 | ENSG00000273018.1 |
36 | lnc-FAM106A-2 | chr17:18431887-18432061 | ENSG00000273018.1 |
37 | lnc-FAM106A-2 | chr17:18420604-18420787 | ENSG00000273018.1 |
38 | lnc-FAM106A-2 | chr17:18420633-18420787 | NONHSAT146382 |
39 | lnc-FAM106A-2 | chr17:18427091-18427191 | ENSG00000273018.1 |
40 | lnc-FAM106A-2 | chr17:18422796-18422988 | ENSG00000273018.1 |
41 | lnc-FAM106A-2 | chr17:18435820-18435911 | ENSG00000273018.1 |
42 | lnc-FAM106A-2 | chr17:18422796-18422988 | NONHSAT146381 |
43 | lnc-FAM106A-2 | chr17:18427120-18427191 | ENSG00000273018.1 |
44 | lnc-FAM106A-2 | chr17:18420604-18420787 | NONHSAT146381 |
45 | lnc-FAM106A-2 | chr17:18431887-18432061 | ENSG00000273018.1 |
46 | lnc-FAM106A-2 | chr17:18426965-18427191 | ENSG00000273018.1 |
47 | lnc-FAM106A-2 | chr17:18445402-18445501 | ENSG00000273018.1 |
48 | lnc-FAM106A-2 | chr17:18430884-18431074 | ENSG00000273018.1 |
49 | lnc-FAM106A-2 | chr17:18420696-18420787 | ENSG00000273018.1 |
50 | lnc-FAM106A-2 | chr17:18422796-18422988 | ENSG00000273018.1 |
No data |
No data |
Variant related genes | Relation type |
---|---|
TBC1D3P4 | TF binding region |
TNPO1P2 | TF binding region |
ENSG00000264177 | TF binding region |
ENSG00000205266 | TF binding region |
ENSG00000227919 | TF binding region |
ENSG00000240279 | TF binding region |
KRT16P1 | TF binding region |
KRT16P4 | TF binding region |
FAM106A | TF binding region |
CCDC144B | TF binding region |
YWHAEP2 | TF binding region |
USP32P2 | TF binding region |
ENSG00000267492 | TF binding region |
KRT17P2 | TF binding region |
LGALS9C | TF binding region |
ENSG00000273018 | TF binding region |
SRP68P2 | TF binding region |
ENSG00000220161 | TF binding region |
NOS2P2 | TF binding region |
EVPLL | TF binding region |
ENSG00000267441 | TF binding region |
TBC1D3P4 | CpG island |
TNPO1P2 | CpG island |
ENSG00000264177 | CpG island |
ENSG00000205266 | CpG island |
ENSG00000227919 | CpG island |
ENSG00000240279 | CpG island |
KRT16P1 | CpG island |
KRT16P4 | CpG island |
FAM106A | CpG island |
CCDC144B | CpG island |
YWHAEP2 | CpG island |
USP32P2 | CpG island |
ENSG00000267492 | CpG island |
KRT17P2 | CpG island |
LGALS9C | CpG island |
ENSG00000273018 | CpG island |
SRP68P2 | CpG island |
ENSG00000220161 | CpG island |
NOS2P2 | CpG island |
EVPLL | CpG island |
ENSG00000267441 | CpG island |
ENSG00000263946 | chromatin interactions |
KIAA0664 | miRNA target sites |
KIAA0528 | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs555293161 | chr17:18289648-18289649 | Weak transcription | TF binding regionChromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
2 | rs569251446 | chr17:18289700-18289701 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs148033503 | chr17:18289734-18289735 | Weak transcription | Chromatin interactive regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs200274082 | chr17:18289744-18289745 | Weak transcription | Chromatin interactive regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs11295053 | chr17:18289747-18289748 | Weak transcription | Chromatin interactive regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs180977837 | chr17:18289761-18289762 | Weak transcription | Chromatin interactive regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs578073255 | chr17:18289817-18289818 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs540413986 | chr17:18289834-18289835 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
9 | rs554019902 | chr17:18289851-18289852 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
10 | rs573936705 | chr17:18289883-18289884 | Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
11 | rs542966155 | chr17:18289919-18289920 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs7222009 | chr17:18289923-18289924 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
13 | rs141503181 | chr17:18289935-18289936 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs34778621 | chr17:18289948-18289949 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
15 | rs7222951 | chr17:18289949-18289950 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
16 | rs7221741 | chr17:18289956-18289957 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
17 | rs546747520 | chr17:18290034-18290035 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs185801515 | chr17:18290056-18290057 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs372308533 | chr17:18290076-18290077 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs36099889 | chr17:18290088-18290089 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs371923431 | chr17:18290094-18290095 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs549252697 | chr17:18290101-18290102 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs7222335 | chr17:18290115-18290116 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
24 | rs538237843 | chr17:18290118-18290119 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs557909284 | chr17:18290149-18290150 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs540321905 | chr17:18290209-18290210 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs60131387 | chr17:18290225-18290226 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs571674929 | chr17:18290265-18290266 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs57006411 | chr17:18290278-18290279 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
30 | rs553983000 | chr17:18290293-18290294 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs7222239 | chr17:18290295-18290296 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
32 | rs192313259 | chr17:18290318-18290319 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs111785911 | chr17:18290351-18290352 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs113417707 | chr17:18290358-18290359 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs35980776 | chr17:18290386-18290387 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs138322486 | chr17:18290407-18290408 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs542876210 | chr17:18290411-18290412 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs36040105 | chr17:18290412-18290413 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | mRNA abundance |
39 | rs35379927 | chr17:18290435-18290436 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
40 | rs58952800 | chr17:18290442-18290443 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
41 | rs564732828 | chr17:18290443-18290444 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs527330722 | chr17:18290448-18290449 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs200023012 | chr17:18290449-18290450 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs59654922 | chr17:18290459-18290460 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
45 | rs57015188 | chr17:18290465-18290466 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs529427168 | chr17:18290567-18290568 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs370290640 | chr17:18290597-18290598 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs376472758 | chr17:18290620-18290621 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs569527346 | chr17:18290668-18290669 | Inactive region | CpG islandChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
50 | rs373191541 | chr17:18290669-18290670 | Inactive region | CpG islandChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Chronic lymphocytic leukemia | 21546498 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Wilms tumour | 21544195 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Melanoma | 18172304 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Breast cancer | 16608533 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Chordoma | 21602918 | CNVD |
Miller-Dieker syndrome | 22283845 | CNVD |
Non-syndromic sensorineural hearing loss | 17457615 | CNVD |
Cancer | 22429812 | CNVD |
Chronic lymphocytic leukemia | 21795749 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Follicular lymphoma | 19010834 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Paraganglioma | 21461997 | CNVD |
Pheochromocytoma | 21461997 | CNVD |
Breast cancer | 22028636 | CNVD |
Breast cancer | 20837533 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Medulloblastoma | 21292688 | CNVD |
colon cancer | 17210682 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Cancer | 16751803 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Embryonal rhabdomyosarcoma | 16790082 | CNVD |
Chronic lymphocytic leukemia | 17971485 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Breast cancer | 16461572 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Breast cancer | 17133270 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Moyamoya disease | 22323933 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Cancer | 20164919 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Acute myeloid leukemia | 20724749 | CNVD |
Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
Acute myeloid leukemia | 17237825 | CNVD |
Colorectal cancer | 21645411 | CNVD |
HIV/AIDS | 22844521 | CNVD |
Psoriasis | 22844521 | CNVD |
Rheumatoid arthritis | 22844521 | CNVD |
Sclerosis systemic | 22844521 | CNVD |
Systemic lupus erythematosus | 22844521 | CNVD |
HIV/AIDS | 17953491 | CNVD |
HIV/AIDS | 20877625 | CNVD |
Immune disease | 21076436 | CNVD |
Rheumatoid arthritis | 17953491 | CNVD |
Type 1 diabetes | 17953491 | CNVD |
HIV/AIDS | 15637236 | CNVD |
Prostate cancer | 18632612 | CNVD |
Lung cancer | 18438408 | CNVD |
Ovarian cancer | 21781307 | CNVD |
Autism | 22495311 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Neurofibromatosis | 18196300 | CNVD |
Adenoid cystic carcinoma | 18332873 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Breast cancer | 17001317 | CNVD |
Rhabdomyosarcoma | 16790082 | CNVD |
Charcot-marie-tooth disease | 16463004 | CNVD |
Osteosarcoma | 22292074 | CNVD |
Breast cancer | 17603634 | CNVD |
Charcot | 16760730 | CNVD |
Mental retardation | 17901693 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
ovarian endometriomas | 16273235 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Smith-Magenis syndrome | 18923513 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Breast cancer | 16272173 | CNVD |
Austim spectrum disorder | 21302340 | CNVD |
Autism | 22492990 | CNVD |
Congenital abnormalities | 21549014 | CNVD |
Developmental delay | 18414209 | CNVD |
Developmental delay | 21549014 | CNVD |
Epilepsy | 20970697 | CNVD |
Mental retardation | 18414209 | CNVD |
Mental retardation | 21549014 | CNVD |
Smith-Magenis syndrome | 21981782 | CNVD |
Smith-Magenis syndrome | 20188345 | CNVD |
Smith-Magenis syndrome | 16775514 | CNVD |
Smith-Magenis syndrome | 22585170 | CNVD |
Smith-Magenis syndrome | 22241247 | CNVD |
Autism | 20970697 | CNVD |
Mental retardation | 19951919 | CNVD |
Potocki-Lupski syndrome | 21271655 | CNVD |
Potocki-lupski syndrome | 17357070 | CNVD |
Potocki-lupski syndrome | 20110824 | CNVD |
Potocki-lupski syndrome | 18923514 | CNVD |
Potocki-lupski syndrome | 22241247 | CNVD |
Potocki-lupski syndrome | 20188345 | CNVD |
Schizophrenia | 21399695 | CNVD |
Mental retardation | 16773131 | CNVD |
Adenocarcinoma | 19607727 | CNVD |
Squamous cell cancer | 19607727 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
Charcot-marie-tooth disease | 22470819 | CNVD |
Neurofibromatosis | 22470819 | CNVD |
Neuropathy | 22470819 | CNVD |
Smith-Magenis syndrome | 18301319 | CNVD |
Smith-Magenis syndrome | 17357070 | CNVD |
Smith-Magenis syndrome | 18469339 | CNVD |
Smith-Magenis syndrome | 22241097 | CNVD |
Smith-Magenis syndrome | 22470819 | CNVD |
Tourette syndrome | 18923514 | CNVD |
Type 1 diabetes | 22470819 | CNVD |
Potocki-lupski syndrome | 18469339 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Neuropathy | 17597781 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Neurodevelopmental disorder | 17015230 | CNVD |
Smith-Magenis syndrome | 17597781 | CNVD |
Potocki-lupski syndrome | 18059269 | CNVD |
Potocki-lupski syndrome | 17597781 | CNVD |
Mental retardation | 17847001 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Breast cancer | 20409316 | CNVD |
Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
Autism | 22543975 | CNVD |
Ovarian cancer | 22355333 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Sezary syndrome | 18413736 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Recurrent pregnancy loss | 19789632 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Breast cancer | 21509527 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Tetralogy of Fallot | 22912587 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Autism | 21865298 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Non-syndromic sensorineural hearing loss | 19212409 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr17:18287800-18290000 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
2 | chr17:18290800-18291400 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
3 | chr17:18291600-18292200 | Enhancers | Primary monocytes fromperipheralblood | blood |
4 | chr17:18291600-18292200 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
5 | chr17:18291600-18292200 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
6 | chr17:18291600-18292600 | Enhancers | Monocytes-CD14+_RO01746 | blood |
7 | chr17:18291800-18292000 | Enhancers | Primary mononuclear cells fromperipheralblood | Blood |
8 | chr17:18291800-18292200 | Enhancers | Primary B cells from peripheral blood | blood |
9 | chr17:18291800-18292200 | Enhancers | Primary T helper memory cells from peripheral blood 2 | blood |
10 | chr17:18291800-18293600 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
11 | chr17:18292200-18292600 | Weak transcription | Primary T helper memory cells from peripheral blood 2 | blood |
12 | chr17:18292200-18294400 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
13 | chr17:18292600-18293200 | Enhancers | Primary T helper memory cells from peripheral blood 2 | blood |
14 | chr17:18292600-18293400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
15 | chr17:18293000-18293400 | Enhancers | Primary T helper cells fromperipheralblood | blood |
16 | chr17:18293400-18293600 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
17 | chr17:18293400-18293600 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
18 | chr17:18293400-18293600 | Enhancers | Fetal Muscle Trunk | muscle |
19 | chr17:18294400-18294600 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
20 | chr17:18306600-18306800 | Enhancers | GM12878-XiMat | blood |
21 | chr17:18306800-18314200 | Weak transcription | GM12878-XiMat | blood |
22 | chr17:18307600-18308000 | Enhancers | Primary B cells from peripheral blood | blood |
23 | chr17:18308000-18312400 | Weak transcription | Primary B cells from peripheral blood | blood |
24 | chr17:18311600-18312800 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
25 | chr17:18312000-18312200 | Enhancers | Fetal Thymus | thymus |
26 | chr17:18312200-18312400 | Enhancers | Primary hematopoietic stem cells | blood |
27 | chr17:18312200-18312400 | Enhancers | Primary T helper naive cells from peripheral blood | blood |
28 | chr17:18312200-18312400 | Enhancers | Primary T cells effector/memory enriched fromperipheralblood | blood |
29 | chr17:18312200-18312400 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
30 | chr17:18312200-18312400 | Enhancers | Brain Cingulate Gyrus | brain |
31 | chr17:18312200-18312600 | Enhancers | Primary T helper naive cells fromperipheralblood | blood |
32 | chr17:18312200-18312600 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
33 | chr17:18312200-18312600 | Active TSS | Fetal Brain Female | brain |
34 | chr17:18312200-18312600 | Flanking Active TSS | Fetal Thymus | thymus |
35 | chr17:18312200-18312800 | Enhancers | HUES48 Cell Line | embryonic stem cell |
36 | chr17:18312200-18312800 | Enhancers | Fetal Lung | lung |
37 | chr17:18312200-18313000 | Enhancers | Primary neutrophils fromperipheralblood | blood |
38 | chr17:18312200-18313000 | Enhancers | Primary T helper cells PMA-I stimulated | -- |
39 | chr17:18312200-18313000 | Enhancers | Primary T helper 17 cells PMA-I stimulated | -- |
40 | chr17:18312200-18313000 | Enhancers | Monocytes-CD14+_RO01746 | blood |
41 | chr17:18312200-18313200 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
42 | chr17:18312200-18313200 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
43 | chr17:18312200-18313200 | Enhancers | Primary T helper cells fromperipheralblood | blood |
44 | chr17:18312200-18313200 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
45 | chr17:18312200-18313200 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
46 | chr17:18312200-18313200 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
47 | chr17:18312200-18313400 | Enhancers | Primary monocytes fromperipheralblood | blood |
48 | chr17:18312200-18313600 | Enhancers | A549 | lung |
49 | chr17:18312200-18313600 | Enhancers | Dnd41 | blood |
50 | chr17:18312200-18314000 | Enhancers | Primary T regulatory cells fromperipheralblood | blood |