Variant report
Variant | nsv1059504 |
---|---|
Chromosome Location | chr17:20222112-20581021 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:2119)
- CpG islands (count:3236)
- Chromatin interactive region (count:2)
- LncRNA region (count:56)
- 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 | ATF1 | chr17:20224178-20224437 | K562 | blood: | n/a | n/a |
2 | ATF2 | chr17:20552417-20552929 | GM12878 | blood: | n/a | n/a |
3 | ATF2 | chr17:20552401-20552830 | GM12878 | blood: | n/a | n/a |
4 | ATF3 | chr17:20224059-20224450 | H1-hESC | embryonic stem cell: | n/a | chr17:20224408-20224418 chr17:20224410-20224430 chr17:20224408-20224421 chr17:20224409-20224420 chr17:20224410-20224421 chr17:20224409-20224420 chr17:20224408-20224418 chr17:20224409-20224422 chr17:20224408-20224421 chr17:20224411-20224421 chr17:20224410-20224418 chr17:20224411-20224418 chr17:20224411-20224421 chr17:20224411-20224419 chr17:20224407-20224422 |
5 | BACH1 | chr17:20388438-20388633 | H1-hESC | embryonic stem cell: | n/a | n/a |
6 | BATF | chr17:20243234-20243495 | GM12878 | blood: | n/a | n/a |
7 | BATF | chr17:20554357-20554645 | GM12878 | blood: | n/a | n/a |
8 | BATF | chr17:20370787-20371117 | GM12878 | blood: | n/a | n/a |
9 | BATF | chr17:20354311-20354673 | GM12878 | blood: | n/a | chr17:20354476-20354487 |
10 | BATF | chr17:20443708-20444186 | GM12878 | blood: | n/a | n/a |
11 | BATF | chr17:20573899-20574074 | GM12878 | blood: | n/a | n/a |
12 | BATF | chr17:20568713-20568948 | GM12878 | blood: | n/a | chr17:20568784-20568795 |
13 | BATF | chr17:20268484-20268863 | GM12878 | blood: | n/a | n/a |
14 | BATF | chr17:20284594-20284865 | GM12878 | blood: | n/a | n/a |
15 | BATF | chr17:20449270-20449503 | GM12878 | blood: | n/a | n/a |
16 | BATF | chr17:20224099-20224508 | GM12878 | blood: | n/a | n/a |
17 | BATF | chr17:20552423-20552925 | GM12878 | blood: | n/a | n/a |
18 | BATF | chr17:20354345-20354597 | GM12878 | blood: | n/a | chr17:20354476-20354487 |
19 | BATF | chr17:20339605-20339854 | GM12878 | blood: | n/a | chr17:20339773-20339784 chr17:20339774-20339784 |
20 | BATF | chr17:20370764-20371076 | GM12878 | blood: | n/a | n/a |
21 | BATF | chr17:20255920-20256169 | GM12878 | blood: | n/a | n/a |
22 | BATF | chr17:20339552-20339955 | GM12878 | blood: | n/a | chr17:20339773-20339784 chr17:20339774-20339784 |
23 | BATF | chr17:20552419-20552811 | GM12878 | blood: | n/a | n/a |
24 | BATF | chr17:20443556-20444223 | GM12878 | blood: | n/a | n/a |
25 | BATF | chr17:20248455-20248916 | GM12878 | blood: | n/a | n/a |
26 | BATF | chr17:20268534-20268812 | GM12878 | blood: | n/a | n/a |
27 | BCL11A | chr17:20370709-20371057 | GM12878 | blood: | n/a | n/a |
28 | BCL11A | chr17:20372530-20372862 | GM12878 | blood: | n/a | n/a |
29 | BCL11A | chr17:20443676-20444145 | GM12878 | blood: | n/a | n/a |
30 | BCL11A | chr17:20443777-20444111 | GM12878 | blood: | n/a | n/a |
31 | BCL11A | chr17:20552374-20552875 | GM12878 | blood: | n/a | n/a |
32 | BCL11A | chr17:20370806-20371041 | GM12878 | blood: | n/a | n/a |
33 | BCL11A | chr17:20554375-20554592 | GM12878 | blood: | n/a | n/a |
34 | BCL11A | chr17:20268605-20268835 | GM12878 | blood: | n/a | n/a |
35 | BCL11A | chr17:20554373-20554609 | GM12878 | blood: | n/a | n/a |
36 | BCL11A | chr17:20224157-20224416 | GM12878 | blood: | n/a | n/a |
37 | BCL11A | chr17:20371063-20371231 | GM12878 | blood: | n/a | n/a |
38 | BCL11A | chr17:20552438-20552751 | GM12878 | blood: | n/a | n/a |
39 | BCL11A | chr17:20224116-20224588 | GM12878 | blood: | n/a | n/a |
40 | BCL11A | chr17:20243128-20243463 | GM12878 | blood: | n/a | n/a |
41 | BCL11A | chr17:20326172-20326448 | GM12878 | blood: | n/a | n/a |
42 | BCL11A | chr17:20559489-20559685 | GM12878 | blood: | n/a | n/a |
43 | BCL3 | chr17:20438566-20438789 | GM12878 | blood: | n/a | n/a |
44 | BHLHE40 | chr17:20514794-20515059 | K562 | blood: | n/a | chr17:20514926-20514939 chr17:20514929-20514938 chr17:20514928-20514937 |
45 | BHLHE40 | chr17:20552469-20552691 | GM12878 | blood: | n/a | n/a |
46 | BHLHE40 | chr17:20354420-20354612 | K562 | blood: | n/a | n/a |
47 | BHLHE40 | chr17:20285598-20285614 | K562 | blood: | n/a | n/a |
48 | BRCA1 | chr17:20224169-20224376 | H1-hESC | embryonic stem cell: | n/a | n/a |
49 | BRCA1 | chr17:20224258-20224346 | HepG2 | liver: | n/a | n/a |
50 | CBX3 | chr17:20224147-20224397 | K562 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr17:20339878-20339928 | Hela-S3 | cervix: | n/a |
2 | chr17:20464366-20464416 | AG10803 | skin: | n/a |
3 | chr17:20326541-20326591 | AG09309 | skin: | n/a |
4 | chr17:20339878-20339928 | Hela-S3 | cervix: | n/a |
5 | chr17:20464366-20464416 | AG10803 | skin: | n/a |
6 | chr17:20326541-20326591 | AG09309 | skin: | n/a |
7 | chr17:20491042-20491092 | IMR90 | lung: | fetal |
8 | chr17:20280166-20280216 | GM12891 | blood: | n/a |
9 | chr17:20280056-20280106 | HCM | heart: | n/a |
10 | chr17:20515873-20515923 | HMEC | breast: | n/a |
11 | chr17:20515873-20515923 | CMK | blood: | n/a |
12 | chr17:20465437-20465487 | SK-N-MC | brain: | n/a |
13 | chr17:20481830-20481880 | ECC-1 | luminal epithelium: | n/a |
14 | chr17:20279144-20279194 | HNPCEpiC | eye: | n/a |
15 | chr17:20481830-20481880 | MCF10A-Er-Src | breast: | n/a |
16 | chr17:20464366-20464416 | HUVEC | blood vessel: | n/a |
17 | chr17:20409125-20409175 | MCF10A-Er-Src | breast: | n/a |
18 | chr17:20445757-20445807 | A549 | lung: | n/a |
19 | chr17:20458986-20459036 | GM06990 | blood: | n/a |
20 | chr17:20465437-20465487 | PANC-1 | pancreas: | n/a |
21 | chr17:20339878-20339928 | Jurkat | blood: | n/a |
22 | chr17:20454132-20454182 | RPTEC | kidney: | n/a |
23 | chr17:20339589-20339639 | SK-N-MC | brain: | n/a |
24 | chr17:20280056-20280106 | IMR90 | lung: | fetal |
25 | chr17:20280056-20280106 | AG04449 | skin: | fetal |
26 | chr17:20481830-20481880 | HUVEC | blood vessel: | n/a |
27 | chr17:20450466-20450516 | CMK | blood: | n/a |
28 | chr17:20224800-20224850 | BJ | skin: | n/a |
29 | chr17:20224230-20224280 | GM12892 | blood: | n/a |
30 | chr17:20450484-20450534 | GM12892 | blood: | n/a |
31 | chr17:20408772-20408822 | T-47D | breast: | n/a |
32 | chr17:20460588-20460638 | PANC-1 | pancreas: | n/a |
33 | chr17:20467831-20467881 | PANC-1 | pancreas: | n/a |
34 | chr17:20408772-20408822 | MCF10A-Er-Src | breast: | n/a |
35 | chr17:20458672-20458722 | HRCEpiC | kidney: | n/a |
36 | chr17:20224800-20224850 | CMK | blood: | n/a |
37 | chr17:20454132-20454182 | ovcar-3 | ovarian: | n/a |
38 | chr17:20280056-20280106 | HRCEpiC | kidney: | n/a |
39 | chr17:20481830-20481880 | SKMC | muscle: | n/a |
40 | chr17:20480574-20480624 | NHBE | bronchial: | n/a |
41 | chr17:20224345-20224395 | A549 | lung: | n/a |
42 | chr17:20339589-20339639 | Hela-S3 | cervix: | n/a |
43 | chr17:20326541-20326591 | SKMC | muscle: | n/a |
44 | chr17:20493386-20493436 | A549 | lung: | n/a |
45 | chr17:20467965-20468015 | BE2_C | brain: | n/a |
46 | chr17:20339589-20339639 | HCPEpiC | choroid plexus: | n/a |
47 | chr17:20481830-20481880 | SAEC | small airway: | n/a |
48 | chr17:20224414-20224464 | GM19239 | blood: | n/a |
49 | chr17:20467831-20467881 | IMR90 | lung: | fetal |
50 | chr17:20480574-20480624 | AG04450 | lung: | fetal |
(count:2 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-LGALS9B-10 | chr17:20435561-20436194 | NONHSAT146584 |
2 | lnc-CCDC144C-1 | chr17:20265497-20265680 | NR_023380 |
3 | lnc-CCDC144C-1 | chr17:20303834-20303876 | NR_023380 |
4 | lnc-LGALS9B-3 | chr17:20517801-20517981 | ENSG00000227685.1 |
5 | lnc-CCDC144C-1 | chr17:20254570-20254711 | NR_023380 |
6 | lnc-LGALS9B-2 | chr17:20481940-20482061 | ENSG00000264422.1 |
7 | lnc-LGALS9B-2 | chr17:20481940-20482234 | XLOC_012419 |
8 | lnc-SPECC1-1 | chr17:20226197-20226286 | ENSG00000263494.1 |
9 | lnc-LGALS9B-3 | chr17:20536347-20536572 | NONHSAT146828 |
10 | lnc-LGALS9B-3 | chr17:20534785-20534862 | ENSG00000227685.1 |
11 | lnc-LGALS9B-2 | chr17:20481940-20482234 | XLOC_012419 |
12 | lnc-LGALS9B-13 | chr17:20462661-20462723 | NONHSAT146793 |
13 | lnc-LGALS9B-2 | chr17:20478827-20479172 | XLOC_012419 |
14 | lnc-CCDC144C-1 | chr17:20254251-20254284 | NR_023380 |
15 | lnc-CCDC144C-1 | chr17:20268399-20269343 | NR_023380 |
16 | lnc-CCDC144NL-9 | chr17:20355135-20355196 | NONHSAT146574 |
17 | lnc-CCDC144NL-9 | chr17:20355664-20355708 | NONHSAT146574 |
18 | lnc-LGALS9B-2 | chr17:20478895-20479172 | XLOC_012419 |
19 | lnc-LGALS9B-3 | chr17:20516225-20516387 | ENSG00000227685.1 |
20 | lnc-SPECC1-3 | chr17:20244056-20244356 | NONHSAT146561 |
21 | lnc-LGALS9B-2 | chr17:20479866-20480107 | XLOC_012419 |
22 | lnc-LGALS9B-7 | chr17:20410726-20412244 | ENSG00000266925.1 |
23 | lnc-CCDC144C-1 | chr17:20261192-20261409 | NR_023380 |
24 | lnc-CCDC144C-1 | chr17:20227496-20227566 | NR_023380 |
25 | lnc-LGALS9B-2 | chr17:20481940-20482149 | XLOC_012419 |
26 | lnc-CCDC144C-1 | chr17:20305369-20305504 | NR_023380 |
27 | lnc-SPECC1-2 | chr17:20226371-20226650 | ENSG00000266839.1 |
28 | lnc-CCDC144C-1 | chr17:20245671-20245807 | NR_023380 |
29 | lnc-LGALS9B-2 | chr17:20479980-20480210 | ENSG00000264422.1 |
30 | lnc-LGALS9B-2 | chr17:20479798-20480255 | XLOC_012419 |
31 | lnc-LGALS9B-2 | chr17:20479798-20480107 | XLOC_012419 |
32 | lnc-FAM106B-1 | chr17:20320763-20321272 | NONHSAT146571 |
33 | lnc-LGALS9B-12 | chr17:20446789-20446842 | NONHSAT146601 |
34 | lnc-CCDC144C-1 | chr17:20239145-20239393 | NR_023380 |
35 | lnc-LGALS9B-12 | chr17:20447359-20447436 | NONHSAT146601 |
36 | lnc-CCDC144NL-9 | chr17:20354914-20355028 | NONHSAT146573 |
37 | lnc-CCDC144C-1 | chr17:20224487-20224973 | NR_023380 |
38 | lnc-CCDC144C-1 | chr17:20241470-20241543 | NR_023380 |
39 | lnc-CCDC144C-1 | chr17:20266235-20266363 | NR_023380 |
40 | lnc-CCDC144C-1 | chr17:20294788-20295081 | NR_023380 |
41 | lnc-LGALS9B-12 | chr17:20446287-20446510 | NONHSAT146601 |
42 | lnc-FAM106B-2 | chr17:20336519-20336570 | ENSG00000265556.1 |
43 | lnc-FAM106B-2 | chr17:20337350-20337598 | ENSG00000265556.1 |
44 | lnc-LGALS9B-2 | chr17:20478895-20479010 | XLOC_012419 |
45 | lnc-FAM106B-1 | chr17:20320741-20322363 | NONHSAT146570 |
46 | lnc-CCDC144C-1 | chr17:20295677-20295897 | NR_023380 |
47 | lnc-LGALS9B-3 | chr17:20536350-20536547 | ENSG00000227685.1 |
48 | lnc-CCDC144NL-9 | chr17:20356330-20356786 | NONHSAT146574 |
49 | lnc-LGALS9B-13 | chr17:20458740-20458896 | NONHSAT146793 |
50 | lnc-LGALS9B-4 | chr17:20373955-20374185 | ucscGeneNc_uc002gxd_1 |
No data |
No data |
Variant related genes | Relation type |
---|---|
UPF3AP2 | TF binding region |
ENSG00000227685 | TF binding region |
ENSG00000260907 | TF binding region |
YWHAEP3 | TF binding region |
ENSG00000266042 | TF binding region |
FAM106B | TF binding region |
NOS2P3 | TF binding region |
KRT16P5 | TF binding region |
RN7SL17P | TF binding region |
ENSG00000266925 | TF binding region |
ENSG00000263946 | TF binding region |
ENSG00000230339 | TF binding region |
ENSG00000265916 | TF binding region |
ENSG00000205215 | TF binding region |
COTL1P2 | TF binding region |
CCDC144CP | TF binding region |
USP32P3 | TF binding region |
ENSG00000231645 | TF binding region |
MEIS3P2 | TF binding region |
ENSG00000236504 | TF binding region |
ENSG00000264422 | TF binding region |
ENSG00000226096 | TF binding region |
TBC1D3P3 | TF binding region |
ZSWIM5P2 | TF binding region |
SRP68P3 | TF binding region |
KRT16P3 | TF binding region |
ENSG00000232889 | TF binding region |
ENSG00000229586 | TF binding region |
ENSG00000235546 | TF binding region |
ENSG00000266364 | TF binding region |
ENSG00000266839 | TF binding region |
ENSG00000265556 | TF binding region |
LGALS9B | TF binding region |
ENSG00000264981 | TF binding region |
ENSG00000267075 | TF binding region |
CDRT15L2 | TF binding region |
UPF3AP2 | CpG island |
ENSG00000227685 | CpG island |
ENSG00000260907 | CpG island |
YWHAEP3 | CpG island |
ENSG00000266042 | CpG island |
FAM106B | CpG island |
NOS2P3 | CpG island |
KRT16P5 | CpG island |
RN7SL17P | CpG island |
ENSG00000266925 | CpG island |
ENSG00000263946 | CpG island |
ENSG00000230339 | CpG island |
ENSG00000265916 | CpG island |
ENSG00000205215 | CpG island |
COTL1P2 | CpG island |
CCDC144CP | CpG island |
USP32P3 | CpG island |
ENSG00000231645 | CpG island |
MEIS3P2 | CpG island |
ENSG00000236504 | CpG island |
ENSG00000264422 | CpG island |
ENSG00000226096 | CpG island |
TBC1D3P3 | CpG island |
ZSWIM5P2 | CpG island |
SRP68P3 | CpG island |
KRT16P3 | CpG island |
ENSG00000232889 | CpG island |
ENSG00000229586 | CpG island |
ENSG00000235546 | CpG island |
ENSG00000266364 | CpG island |
ENSG00000266839 | CpG island |
ENSG00000265556 | CpG island |
LGALS9B | CpG island |
ENSG00000264981 | CpG island |
ENSG00000267075 | CpG island |
CDRT15L2 | CpG island |
ENSG00000214860 | chromatin interactions |
VPS4B | miRNA target sites |
RNF125 | miRNA target sites |
GTF3C4 | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs183777300 | chr17:20222128-20222129 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs202190753 | chr17:20222137-20222138 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs561571071 | chr17:20222142-20222143 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs188954162 | chr17:20222155-20222156 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs2586665 | chr17:20222202-20222203 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs192940111 | chr17:20222203-20222204 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs559426100 | chr17:20222253-20222254 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs570885532 | chr17:20222270-20222271 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs533344733 | chr17:20222287-20222288 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs550044626 | chr17:20222303-20222304 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
11 | rs367613693 | chr17:20222315-20222316 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
12 | rs548500451 | chr17:20222364-20222365 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
13 | rs182893073 | chr17:20222370-20222371 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
14 | rs551202436 | chr17:20222466-20222467 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
15 | rs3072412 | chr17:20222487-20222488 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
16 | rs568091055 | chr17:20222516-20222517 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
17 | rs536857005 | chr17:20222517-20222518 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
18 | rs548808994 | chr17:20222523-20222524 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
19 | rs183813459 | chr17:20222557-20222558 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
20 | rs534633707 | chr17:20222562-20222563 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
21 | rs376193932 | chr17:20222601-20222602 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
22 | rs552925118 | chr17:20222605-20222606 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
23 | rs577977855 | chr17:20222617-20222618 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
24 | rs397839646 | chr17:20222667-20222668 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
25 | rs547196704 | chr17:20222683-20222684 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
26 | rs539091462 | chr17:20222709-20222710 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
27 | rs149250869 | chr17:20222727-20222728 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
28 | rs4003628 | chr17:20222728-20222729 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
29 | rs557186336 | chr17:20222787-20222788 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
30 | rs575750669 | chr17:20222797-20222798 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
31 | rs543240900 | chr17:20222848-20222849 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
32 | rs561507514 | chr17:20222977-20222978 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs369107681 | chr17:20223012-20223013 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs12951738 | chr17:20223014-20223015 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs12952747 | chr17:20223023-20223024 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs12951777 | chr17:20223055-20223056 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs570480669 | chr17:20223074-20223075 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs187192858 | chr17:20223094-20223095 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs7212571 | chr17:20223152-20223153 | Weak transcription | TF binding region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
40 | rs551409298 | chr17:20223164-20223165 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
41 | rs563230407 | chr17:20223186-20223187 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
42 | rs530557806 | chr17:20223191-20223192 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
43 | rs548748784 | chr17:20223192-20223193 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
44 | rs567151057 | chr17:20223220-20223221 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
45 | rs534579287 | chr17:20223284-20223285 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
46 | rs546507008 | chr17:20223292-20223293 | Weak transcription | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
47 | rs144295491 | chr17:20223332-20223333 | Weak transcription | CpG island | 2 gene(s) | Overlapped CNVs | n/a |
48 | rs200278402 | chr17:20223362-20223363 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs538662240 | chr17:20223377-20223378 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs148753176 | chr17:20223386-20223387 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Wilms tumour | 21544195 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Chronic lymphocytic leukemia | 21546498 | 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 |
Acute promyelocytic leukemia | 19109227 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | 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 |
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 |
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 |
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 |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Breast cancer | 21509527 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Cancer | 17440070 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Williams Syndrome | 20824207 | CNVD |
Breast cancer | 17142309 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr17:20187800-20223800 | Weak transcription | Pancreas | Pancrea |
2 | chr17:20210800-20223800 | Weak transcription | Colonic Mucosa | Colon |
3 | chr17:20210800-20223800 | Weak transcription | Esophagus | oesophagus |
4 | chr17:20211000-20223000 | Weak transcription | H9 Cell Line | embryonic stem cell |
5 | chr17:20211000-20223800 | Weak transcription | H1 Cell Line | embryonic stem cell |
6 | chr17:20211000-20223800 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
7 | chr17:20211000-20224000 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
8 | chr17:20211000-20224000 | Weak transcription | HMEC | breast |
9 | chr17:20211200-20223800 | Weak transcription | Duodenum Mucosa | Duodenum |
10 | chr17:20211200-20224000 | Weak transcription | Fetal Intestine Large | intestine |
11 | chr17:20211400-20224000 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
12 | chr17:20211600-20224000 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
13 | chr17:20213000-20223800 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
14 | chr17:20213000-20223800 | Weak transcription | Adipose Nuclei | Adipose |
15 | chr17:20213000-20226600 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
16 | chr17:20213200-20223800 | Weak transcription | Primary hematopoietic stem cells | blood |
17 | chr17:20214400-20223400 | Weak transcription | Sigmoid Colon | Sigmoid Colon |
18 | chr17:20217200-20224000 | Weak transcription | Brain Dorsolateral Prefrontal Cortex | brain |
19 | chr17:20218400-20223800 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
20 | chr17:20218600-20223800 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
21 | chr17:20218600-20223800 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
22 | chr17:20218600-20223800 | Weak transcription | Primary mononuclear cells fromperipheralblood | Blood |
23 | chr17:20218600-20224000 | Weak transcription | A549 | lung |
24 | chr17:20218800-20223800 | Weak transcription | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
25 | chr17:20218800-20224000 | Weak transcription | NHEK | skin |
26 | chr17:20218800-20224400 | Weak transcription | Gastric | stomach |
27 | chr17:20219000-20223600 | Weak transcription | Primary Natural Killer cells fromperipheralblood | blood |
28 | chr17:20219000-20223800 | Weak transcription | Rectal Mucosa Donor 29 | rectum |
29 | chr17:20219000-20224000 | Weak transcription | Brain Germinal Matrix | brain |
30 | chr17:20219000-20224000 | Weak transcription | Spleen | Spleen |
31 | chr17:20219200-20223600 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
32 | chr17:20219200-20223800 | Weak transcription | Primary T cells fromperipheralblood | blood |
33 | chr17:20219200-20223800 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
34 | chr17:20219200-20223800 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
35 | chr17:20219200-20223800 | Weak transcription | Ovary | ovary |
36 | chr17:20219200-20224000 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
37 | chr17:20219200-20224600 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
38 | chr17:20219400-20223200 | Weak transcription | Hela-S3 | cervix |
39 | chr17:20219400-20223800 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
40 | chr17:20219400-20223800 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
41 | chr17:20219400-20223800 | Weak transcription | Aorta | Aorta |
42 | chr17:20219400-20223800 | Weak transcription | Brain Angular Gyrus | brain |
43 | chr17:20219400-20223800 | Weak transcription | Brain Cingulate Gyrus | brain |
44 | chr17:20219400-20223800 | Weak transcription | Brain Inferior Temporal Lobe | brain |
45 | chr17:20219400-20223800 | Weak transcription | Fetal Adrenal Gland | Adrenal Gland |
46 | chr17:20219400-20224000 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
47 | chr17:20219400-20224000 | Weak transcription | Fetal Intestine Small | intestine |
48 | chr17:20219400-20229200 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
49 | chr17:20219600-20223800 | Weak transcription | Primary monocytes fromperipheralblood | blood |
50 | chr17:20219600-20223800 | Weak transcription | Brain Hippocampus Middle | brain |