Variant report
Variant | nsv1057816 |
---|---|
Chromosome Location | chr17:18319850-18530061 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1610)
- CpG islands (count:1772)
- Chromatin interactive region (count:3)
- LncRNA region (count:85)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | ARID3A | chr17:18529043-18529166 | K562 | blood: | n/a | n/a |
2 | ARID3A | chr17:18467518-18467720 | HepG2 | liver: | n/a | n/a |
3 | ATF1 | chr17:18528915-18529148 | K562 | blood: | n/a | n/a |
4 | ATF2 | chr17:18528880-18529525 | GM12878 | blood: | n/a | chr17:18528970-18528981 |
5 | ATF3 | chr17:18528991-18529253 | H1-hESC | embryonic stem cell: | n/a | n/a |
6 | ATF3 | chr17:18529020-18529205 | K562 | blood: | n/a | n/a |
7 | ATF3 | chr17:18529033-18529226 | GM12878 | blood: | n/a | n/a |
8 | ATF3 | chr17:18528866-18529292 | GM12878 | blood: | n/a | chr17:18528968-18528981 chr17:18528969-18528980 chr17:18528969-18528982 chr17:18528968-18528983 chr17:18528972-18528982 chr17:18528972-18528980 chr17:18528960-18528980 chr17:18528969-18528979 chr17:18528972-18528982 chr17:18528970-18528981 chr17:18528969-18528979 chr17:18528972-18528979 chr17:18528970-18528981 chr17:18528969-18528982 chr17:18528971-18528979 |
9 | ATF3 | chr17:18528849-18529308 | H1-hESC | embryonic stem cell: | n/a | chr17:18528968-18528981 chr17:18528969-18528980 chr17:18528969-18528982 chr17:18528968-18528983 chr17:18528972-18528982 chr17:18528972-18528980 chr17:18528960-18528980 chr17:18528969-18528979 chr17:18528972-18528982 chr17:18528970-18528981 chr17:18528969-18528979 chr17:18528972-18528979 chr17:18528970-18528981 chr17:18528969-18528982 chr17:18528971-18528979 |
10 | BACH1 | chr17:18362390-18362672 | H1-hESC | embryonic stem cell: | n/a | n/a |
11 | BACH1 | chr17:18355389-18355575 | H1-hESC | embryonic stem cell: | n/a | n/a |
12 | BACH1 | chr17:18472043-18472169 | H1-hESC | embryonic stem cell: | n/a | n/a |
13 | BATF | chr17:18467472-18467685 | GM12878 | blood: | n/a | n/a |
14 | BATF | chr17:18509282-18509509 | GM12878 | blood: | n/a | n/a |
15 | BATF | chr17:18503769-18504272 | GM12878 | blood: | n/a | n/a |
16 | BATF | chr17:18396259-18396664 | GM12878 | blood: | n/a | chr17:18396479-18396490 |
17 | BATF | chr17:18496542-18496830 | GM12878 | blood: | n/a | n/a |
18 | BATF | chr17:18509195-18509490 | GM12878 | blood: | n/a | n/a |
19 | BATF | chr17:18528847-18529235 | GM12878 | blood: | n/a | n/a |
20 | BATF | chr17:18483436-18483734 | GM12878 | blood: | n/a | n/a |
21 | BATF | chr17:18410950-18411370 | GM12878 | blood: | n/a | chr17:18411156-18411166 chr17:18411155-18411166 |
22 | BATF | chr17:18411051-18411300 | GM12878 | blood: | n/a | chr17:18411156-18411166 chr17:18411155-18411166 |
23 | BATF | chr17:18483425-18483804 | GM12878 | blood: | n/a | n/a |
24 | BATF | chr17:18379801-18380128 | GM12878 | blood: | n/a | n/a |
25 | BATF | chr17:18379787-18380078 | GM12878 | blood: | n/a | n/a |
26 | BATF | chr17:18396335-18396562 | GM12878 | blood: | n/a | chr17:18396479-18396490 |
27 | BATF | chr17:18528855-18529130 | GM12878 | blood: | n/a | n/a |
28 | BCL11A | chr17:18509177-18509596 | GM12878 | blood: | n/a | n/a |
29 | BCL11A | chr17:18472933-18473174 | H1-hESC | embryonic stem cell: | n/a | n/a |
30 | BCL11A | chr17:18483453-18483768 | GM12878 | blood: | n/a | n/a |
31 | BCL11A | chr17:18472981-18473247 | H1-hESC | embryonic stem cell: | n/a | n/a |
32 | BCL11A | chr17:18503757-18504030 | GM12878 | blood: | n/a | n/a |
33 | BCL11A | chr17:18528767-18529227 | GM12878 | blood: | n/a | n/a |
34 | BCL11A | chr17:18379825-18380074 | GM12878 | blood: | n/a | n/a |
35 | BCL11A | chr17:18528910-18529215 | GM12878 | blood: | n/a | n/a |
36 | BCL11A | chr17:18424410-18424651 | GM12878 | blood: | n/a | n/a |
37 | BCL11A | chr17:18509267-18509452 | GM12878 | blood: | n/a | n/a |
38 | BCL11A | chr17:18379766-18380162 | GM12878 | blood: | n/a | n/a |
39 | BCL11A | chr17:18378052-18378384 | GM12878 | blood: | n/a | n/a |
40 | BCLAF1 | chr17:18528877-18529395 | GM12878 | blood: | n/a | n/a |
41 | BCLAF1 | chr17:18528946-18529424 | GM12878 | blood: | n/a | n/a |
42 | BHLHE40 | chr17:18396537-18396565 | K562 | blood: | n/a | n/a |
43 | BHLHE40 | chr17:18424672-18424862 | GM12878 | blood: | n/a | n/a |
44 | BHLHE40 | chr17:18466647-18467016 | K562 | blood: | n/a | n/a |
45 | BHLHE40 | chr17:18529022-18529213 | K562 | blood: | n/a | n/a |
46 | BRCA1 | chr17:18528955-18529155 | Hela-S3 | cervix: | n/a | n/a |
47 | BRCA1 | chr17:18528952-18529277 | GM12878 | blood: | n/a | n/a |
48 | CBX3 | chr17:18528789-18529275 | K562 | blood: | n/a | n/a |
49 | CBX3 | chr17:18528996-18529281 | K562 | blood: | n/a | n/a |
50 | CEBPB | chr17:18322055-18322251 | K562 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr17:18428092-18428142 | ovcar-3 | ovarian: | n/a |
2 | chr17:18325001-18325051 | BE2_C | brain: | n/a |
3 | chr17:18421335-18421385 | GM12891 | blood: | n/a |
4 | chr17:18428092-18428142 | ovcar-3 | ovarian: | n/a |
5 | chr17:18325001-18325051 | BE2_C | brain: | n/a |
6 | chr17:18421335-18421385 | GM12891 | blood: | n/a |
7 | chr17:18380159-18380209 | ovcar-3 | ovarian: | n/a |
8 | chr17:18325001-18325051 | SAEC | small airway: | n/a |
9 | chr17:18397849-18397899 | PFSK-1 | brain: | n/a |
10 | chr17:18528589-18528639 | NH-A | brain: | n/a |
11 | chr17:18397849-18397899 | CMK | blood: | n/a |
12 | chr17:18524503-18524553 | NB4 | blood: | n/a |
13 | chr17:18429951-18430001 | K562 | blood: | n/a |
14 | chr17:18428092-18428142 | SAEC | small airway: | n/a |
15 | chr17:18378879-18378929 | NHDF-neo | bronchial: | n/a |
16 | chr17:18528589-18528639 | Hela-S3 | cervix: | n/a |
17 | chr17:18378879-18378929 | HMEC | breast: | n/a |
18 | chr17:18429951-18430001 | HRE | kidney: | n/a |
19 | chr17:18431043-18431093 | IMR90 | lung: | fetal |
20 | chr17:18529207-18529257 | K562 | blood: | n/a |
21 | chr17:18432149-18432199 | Caco-2 | colon: | n/a |
22 | chr17:18528568-18528618 | HMEC | breast: | n/a |
23 | chr17:18325001-18325051 | HCT-116 | colon: | n/a |
24 | chr17:18476059-18476109 | HUVEC | blood vessel: | n/a |
25 | chr17:18428092-18428142 | HEK293 | kidney: | embryo |
26 | chr17:18428092-18428142 | GM06990 | blood: | n/a |
27 | chr17:18475978-18476028 | ovcar-3 | ovarian: | n/a |
28 | chr17:18380354-18380404 | PFSK-1 | brain: | n/a |
29 | chr17:18378879-18378929 | IMR90 | lung: | fetal |
30 | chr17:18528589-18528639 | PFSK-1 | brain: | n/a |
31 | chr17:18419896-18419946 | AG09319 | gingival: | n/a |
32 | chr17:18428092-18428142 | GM12892 | blood: | n/a |
33 | chr17:18431043-18431093 | HCF | heart: | n/a |
34 | chr17:18473054-18473104 | HL-60 | blood: | n/a |
35 | chr17:18430908-18430958 | HCT-116 | colon: | n/a |
36 | chr17:18476059-18476109 | K562 | blood: | n/a |
37 | chr17:18429951-18430001 | MCF-7 | breast: | n/a |
38 | chr17:18379129-18379179 | NHDF-neo | bronchial: | n/a |
39 | chr17:18431043-18431093 | T-47D | breast: | n/a |
40 | chr17:18527483-18527533 | SKMC | muscle: | n/a |
41 | chr17:18326064-18326114 | HRE | kidney: | n/a |
42 | chr17:18473054-18473104 | GM12892 | blood: | n/a |
43 | chr17:18528589-18528639 | HNPCEpiC | eye: | n/a |
44 | chr17:18431043-18431093 | CMK | blood: | n/a |
45 | chr17:18475978-18476028 | CMK | blood: | n/a |
46 | chr17:18432149-18432199 | HRPEpiC | eye: | n/a |
47 | chr17:18475978-18476028 | SK-N-SH | brain: | n/a |
48 | chr17:18529207-18529257 | SK-N-MC | brain: | n/a |
49 | chr17:18379129-18379179 | HRPEpiC | eye: | n/a |
50 | chr17:18528589-18528639 | U87 | brain: | n/a |
(count:3 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-AL353997.5.1-5 | chr17:18380114-18380207 | NONHSAT146376 |
2 | lnc-FAM106A-2 | chr17:18435820-18435911 | ENSG00000273018.1 |
3 | lnc-FAM106A-2 | chr17:18431887-18432061 | ENSG00000273018.1 |
4 | lnc-FAM106A-2 | chr17:18420696-18420787 | ENSG00000273018.1 |
5 | lnc-FAM106A-2 | chr17:18427091-18427191 | ENSG00000273018.1 |
6 | lnc-FAM106A-2 | chr17:18435820-18435911 | ENSG00000273018.1 |
7 | lnc-FAM106A-2 | chr17:18446183-18446301 | ENSG00000273018.1 |
8 | lnc-TBC1D28-3 | chr17:18508369-18508669 | NONHSAT146389 |
9 | lnc-FAM106A-2 | chr17:18431887-18432061 | ENSG00000273018.1 |
10 | lnc-FAM106A-2 | chr17:18444241-18444277 | NONHSAT146384 |
11 | lnc-FAM106A-2 | chr17:18445402-18445501 | ENSG00000273018.1 |
12 | lnc-FAM106A-2 | chr17:18424393-18424459 | ENSG00000273018.1 |
13 | lnc-FAM106A-2 | chr17:18528417-18528854 | NONHSAT146390 |
14 | lnc-FAM106A-2 | chr17:18427091-18427711 | ENSG00000273018.1 |
15 | lnc-FAM106A-2 | chr17:18431887-18432061 | ENSG00000273018.1 |
16 | lnc-FAM106A-2 | chr17:18422796-18422988 | ENSG00000273018.1 |
17 | lnc-FAM106A-2 | chr17:18420633-18420787 | NONHSAT146382 |
18 | lnc-AL353997.5.1-5 | chr17:18387189-18387649 | NONHSAT146376 |
19 | lnc-FAM106A-2 | chr17:18422796-18422988 | NONHSAT146382 |
20 | lnc-FAM106A-2 | chr17:18422796-18422988 | ENSG00000273018.1 |
21 | lnc-FAM106A-2 | chr17:18422796-18422988 | NONHSAT146381 |
22 | lnc-FAM106A-2 | chr17:18430884-18431074 | ENSG00000273018.1 |
23 | lnc-FAM106A-2 | chr17:18422796-18422988 | ENSG00000273018.1 |
24 | lnc-FAM106A-2 | chr17:18427120-18427191 | ENSG00000273018.1 |
25 | lnc-AL353997.5.1-4 | chr17:18343740-18343831 | NONHSAT146373 |
26 | lnc-FAM106A-2 | chr17:18435820-18435911 | ENSG00000273018.1 |
27 | lnc-FAM106A-2 | chr17:18422796-18422988 | ENSG00000273018.1 |
28 | lnc-FAM106A-2 | chr17:18435820-18435911 | ENSG00000273018.1 |
29 | lnc-FAM106A-2 | chr17:18446987-18447029 | ENSG00000273018.1 |
30 | lnc-FAM106A-2 | chr17:18435820-18435911 | ENSG00000273018.1 |
31 | lnc-FAM106A-2 | chr17:18444241-18444550 | ENSG00000273018.1 |
32 | lnc-FAM106A-2 | chr17:18427457-18427714 | ENSG00000273018.1 |
33 | lnc-FAM106A-2 | chr17:18431887-18432061 | ENSG00000273018.1 |
34 | lnc-FAM106A-2 | chr17:18431887-18432126 | NONHSAT146381 |
35 | lnc-FAM106A-2 | chr17:18436661-18437376 | ENSG00000273018.1 |
36 | lnc-FAM106A-2 | chr17:18420696-18420787 | ENSG00000273018.1 |
37 | lnc-FAM106A-2 | chr17:18454820-18454999 | ENSG00000273018.1 |
38 | lnc-FAM106A-2 | chr17:18446987-18447029 | ENSG00000273018.1 |
39 | lnc-FAM106A-2 | chr17:18435820-18435911 | ENSG00000273018.1 |
40 | lnc-FAM106A-2 | chr17:18420725-18420787 | ENSG00000273018.1 |
41 | lnc-FAM106A-2 | chr17:18422796-18422988 | ENSG00000273018.1 |
42 | lnc-FAM106A-2 | chr17:18422796-18422988 | ENSG00000273018.1 |
43 | lnc-FAM106A-2 | chr17:18431887-18432642 | ENSG00000273018.1 |
44 | lnc-FAM106A-2 | chr17:18525812-18525882 | NONHSAT146390 |
45 | lnc-FAM106A-2 | chr17:18431887-18432298 | ENSG00000273018.1 |
46 | lnc-AL353997.5.1-6 | chr17:18395483-18395859 | NONHSAT146378 |
47 | lnc-FAM106A-2 | chr17:18445402-18445501 | ENSG00000273018.1 |
48 | lnc-FAM106A-2 | chr17:18420604-18420787 | NONHSAT146381 |
49 | lnc-AL353997.5.1-4 | chr17:18343220-18343625 | NONHSAT146373 |
50 | lnc-FAM106A-2 | chr17:18446987-18447029 | ENSG00000273018.1 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000205266 | TF binding region |
USP32P2 | TF binding region |
KRT16P4 | TF binding region |
LGALS9C | TF binding region |
ENSG00000227919 | TF binding region |
ENSG00000267492 | TF binding region |
KRT16P1 | TF binding region |
RN7SL639P | TF binding region |
TNPO1P2 | TF binding region |
ENSG00000240279 | TF binding region |
ENSG00000227077 | TF binding region |
YWHAEP2 | TF binding region |
FAM106A | TF binding region |
KRT17P2 | TF binding region |
SRP68P2 | TF binding region |
NOS2P2 | TF binding region |
CCDC144B | TF binding region |
ENSG00000273018 | TF binding region |
ENSG00000205266 | CpG island |
USP32P2 | CpG island |
KRT16P4 | CpG island |
LGALS9C | CpG island |
ENSG00000227919 | CpG island |
ENSG00000267492 | CpG island |
KRT16P1 | CpG island |
RN7SL639P | CpG island |
TNPO1P2 | CpG island |
ENSG00000240279 | CpG island |
ENSG00000227077 | CpG island |
YWHAEP2 | CpG island |
FAM106A | CpG island |
KRT17P2 | CpG island |
SRP68P2 | CpG island |
NOS2P2 | CpG island |
CCDC144B | CpG island |
ENSG00000273018 | CpG island |
ENSG00000154025 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs545749128 | chr17:18319899-18319900 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs559070576 | chr17:18319900-18319901 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs528118192 | chr17:18319908-18319909 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs111692810 | chr17:18319909-18319910 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs561805124 | chr17:18319954-18319955 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs368993279 | chr17:18319961-18319962 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs530274560 | chr17:18319962-18319963 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs550112528 | chr17:18319991-18319992 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs116040838 | chr17:18320217-18320218 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
10 | rs545755439 | chr17:18320231-18320232 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
11 | rs28459061 | chr17:18320238-18320239 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
12 | rs559643118 | chr17:18320256-18320257 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
13 | rs572864846 | chr17:18320297-18320298 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
14 | rs537531311 | chr17:18320300-18320301 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
15 | rs369114256 | chr17:18320301-18320302 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
16 | rs541854033 | chr17:18320338-18320339 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
17 | rs62074240 | chr17:18320355-18320356 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
18 | rs28384298 | chr17:18320435-18320436 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
19 | rs561721395 | chr17:18320440-18320441 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
20 | rs376203046 | chr17:18320455-18320456 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
21 | rs369354456 | chr17:18320465-18320466 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
22 | rs2930568 | chr17:18320467-18320468 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
23 | rs2948631 | chr17:18320476-18320477 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
24 | rs551124542 | chr17:18320497-18320498 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
25 | rs550318596 | chr17:18320521-18320522 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
26 | rs563716987 | chr17:18320547-18320548 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
27 | rs140556201 | chr17:18320583-18320584 | Enhancers | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
28 | rs552592644 | chr17:18320625-18320626 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
29 | rs550585761 | chr17:18320645-18320646 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
30 | rs566074009 | chr17:18320670-18320671 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
31 | rs372902586 | chr17:18320672-18320673 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
32 | rs545325040 | chr17:18320780-18320781 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
33 | rs548198715 | chr17:18320797-18320798 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
34 | rs543953722 | chr17:18321834-18321835 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
35 | rs202173647 | chr17:18321836-18321837 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
36 | rs564253028 | chr17:18321860-18321861 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
37 | rs2608217 | chr17:18321867-18321868 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
38 | rs532588963 | chr17:18321877-18321878 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
39 | rs2608219 | chr17:18321878-18321879 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
40 | rs546389596 | chr17:18321887-18321888 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
41 | rs559589675 | chr17:18321898-18321899 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
42 | rs374510964 | chr17:18321913-18321914 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
43 | rs377569343 | chr17:18321919-18321920 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
44 | rs548505692 | chr17:18321934-18321935 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
45 | rs568091957 | chr17:18321984-18321985 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
46 | rs371101043 | chr17:18322004-18322005 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
47 | rs530977641 | chr17:18322030-18322031 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
48 | rs374133922 | chr17:18322039-18322040 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
49 | rs550785350 | chr17:18322045-18322046 | Inactive region | TF binding region | 3 gene(s) | Overlapped CNVs | n/a |
50 | rs200425067 | chr17:18322074-18322075 | Inactive region | TF binding region | 3 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 |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Tetralogy of Fallot | 22912587 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Autism | 21865298 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Non-syndromic sensorineural hearing loss | 19212409 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr17:18318000-18320000 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
2 | chr17:18320200-18320400 | Enhancers | HUES6 Cell Line | embryonic stem cell |
3 | chr17:18320400-18320600 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
4 | chr17:18320400-18320600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
5 | chr17:18324800-18326200 | Enhancers | Skeletal Muscle Female | skeletal muscle |
6 | chr17:18324800-18326400 | Enhancers | Fetal Thymus | thymus |
7 | chr17:18333000-18333400 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
8 | chr17:18339400-18339800 | Enhancers | HUES6 Cell Line | embryonic stem cell |
9 | chr17:18351000-18351400 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
10 | chr17:18351200-18351400 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
11 | chr17:18351200-18351400 | Enhancers | NHEK | skin |
12 | chr17:18351400-18352800 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
13 | chr17:18351400-18353000 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
14 | chr17:18351400-18355400 | Weak transcription | NHEK | skin |
15 | chr17:18352800-18353400 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
16 | chr17:18353000-18353200 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
17 | chr17:18353200-18353600 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
18 | chr17:18353400-18353600 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
19 | chr17:18353600-18354400 | Active TSS | Foreskin Keratinocyte Primary Cells skin02 | Skin |
20 | chr17:18353600-18354600 | Active TSS | Foreskin Keratinocyte Primary Cells skin03 | Skin |
21 | chr17:18354400-18354600 | Flanking Active TSS | Foreskin Keratinocyte Primary Cells skin02 | Skin |
22 | chr17:18354600-18355400 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
23 | chr17:18354600-18355400 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
24 | chr17:18355400-18355600 | Active TSS | Foreskin Keratinocyte Primary Cells skin02 | Skin |
25 | chr17:18355400-18355600 | Active TSS | Foreskin Keratinocyte Primary Cells skin03 | Skin |
26 | chr17:18355400-18355800 | Enhancers | NHEK | skin |
27 | chr17:18355600-18355800 | Flanking Active TSS | Foreskin Keratinocyte Primary Cells skin02 | Skin |
28 | chr17:18355600-18355800 | Flanking Active TSS | Foreskin Keratinocyte Primary Cells skin03 | Skin |
29 | chr17:18361000-18362400 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
30 | chr17:18361600-18361800 | Enhancers | Hela-S3 | cervix |
31 | chr17:18361600-18362000 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
32 | chr17:18362000-18362400 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
33 | chr17:18362200-18362600 | Active TSS | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
34 | chr17:18362200-18362600 | Active TSS | A549 | lung |
35 | chr17:18362200-18362800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
36 | chr17:18362400-18362600 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
37 | chr17:18362400-18362600 | Bivalent Enhancer | Fetal Lung | lung |
38 | chr17:18362400-18362600 | Active TSS | Hela-S3 | cervix |
39 | chr17:18362400-18362800 | Enhancers | H1 Cell Line | embryonic stem cell |
40 | chr17:18362400-18362800 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
41 | chr17:18362400-18362800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
42 | chr17:18362400-18362800 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
43 | chr17:18362400-18362800 | Active TSS | Foreskin Fibroblast Primary Cells skin01 | Skin |
44 | chr17:18362400-18363400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
45 | chr17:18362600-18362800 | Flanking Active TSS | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
46 | chr17:18362600-18362800 | Enhancers | Muscle Satellite Cultured Cells | -- |
47 | chr17:18362600-18362800 | Flanking Active TSS | Hela-S3 | cervix |
48 | chr17:18362600-18362800 | Enhancers | Osteobl | bone |
49 | chr17:18362600-18372000 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
50 | chr17:18367200-18367400 | Enhancers | Fetal Intestine Large | intestine |