Variant report
Variant | nsv521883 |
---|---|
Chromosome Location | chr20:53497139-53563837 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:65)
- LncRNA region (count:5)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr20:53528274..53530269-chr20:53537071..53540114,3 | MCF-7 | breast: | |
2 | chr20:53541905..53543626-chr3:64560566..64563267,2 | MCF-7 | breast: | |
3 | chr20:53509842..53511344-chr20:53512183..53514482,2 | MCF-7 | breast: | |
4 | chr20:45989491..45990099-chr20:53531216..53531844,2 | MCF-7 | breast: | |
5 | chr20:53554839..53555823-chr3:64515857..64516498,2 | MCF-7 | breast: | |
6 | chr17:62388570..62391052-chr20:53552500..53555327,2 | MCF-7 | breast: | |
7 | chr20:53533974..53538629-chr20:53538672..53542933,6 | MCF-7 | breast: | |
8 | chr20:53479571..53482526-chr20:53495392..53497339,2 | MCF-7 | breast: | |
9 | chr20:53524084..53526221-chr20:53527180..53529602,2 | MCF-7 | breast: | |
10 | chr20:53529687..53531510-chr3:64672438..64675127,2 | MCF-7 | breast: | |
11 | chr20:53421068..53421889-chr20:53508493..53509173,2 | MCF-7 | breast: | |
12 | chr17:62386971..62389896-chr20:53555496..53558705,8 | MCF-7 | breast: | |
13 | chr20:53502716..53505426-chr20:53509353..53511541,3 | MCF-7 | breast: | |
14 | chr20:53538982..53541725-chr20:53555678..53557256,2 | MCF-7 | breast: | |
15 | chr20:53555329..53555881-chr3:64519295..64520243,2 | MCF-7 | breast: | |
16 | chr17:62386547..62391340-chr20:53548880..53558881,15 | MCF-7 | breast: | |
17 | chr16:7884838..7885338-chr20:53498067..53498571,2 | MCF-7 | breast: | |
18 | chr2:221619238..221620082-chr20:53533829..53534690,2 | MCF-7 | breast: | |
19 | chr20:53538948..53541893-chr20:53544138..53545956,2 | MCF-7 | breast: | |
20 | chr20:53537262..53540100-chr3:64661653..64663357,2 | MCF-7 | breast: | |
21 | chr17:62388537..62389481-chr20:53555289..53556141,2 | MCF-7 | breast: | |
22 | chr20:53351517..53353056-chr20:53525987..53528472,2 | MCF-7 | breast: | |
23 | chr1:149857652..149859662-chr20:53539161..53541367,2 | MCF-7 | breast: | |
24 | chr20:53344453..53347418-chr20:53540200..53542440,2 | MCF-7 | breast: | |
25 | chr20:53555216..53557434-chr3:64517545..64519675,2 | MCF-7 | breast: | |
26 | chr20:53487853..53490611-chr20:53501403..53504058,2 | MCF-7 | breast: | |
27 | chr20:53509842..53511344-chr20:53512183..53514482,2 | MCF-7 | breast: | |
28 | chr20:53553719..53556075-chr20:53557124..53559804,2 | MCF-7 | breast: | |
29 | chr20:53554975..53555769-chr3:64657740..64658419,2 | MCF-7 | breast: | |
30 | chr20:53505374..53507106-chr20:53509425..53512263,2 | K562 | blood: | |
31 | chr20:45825058..45825592-chr20:53555003..53555747,2 | MCF-7 | breast: | |
32 | chr20:53524084..53526221-chr20:53527180..53529602,2 | MCF-7 | breast: | |
33 | chr20:53528909..53530872-chr20:53533679..53535897,2 | MCF-7 | breast: | |
34 | chr17:62389746..62390289-chr20:53556791..53557370,2 | MCF-7 | breast: | |
35 | chr20:53281502..53283997-chr20:53536510..53538285,2 | MCF-7 | breast: | |
36 | chr20:53458903..53460576-chr20:53530268..53532313,2 | MCF-7 | breast: | |
37 | chr17:62388052..62389593-chr20:53556863..53557749,6 | MCF-7 | breast: | |
38 | chr20:53485625..53487827-chr20:53496627..53498549,2 | MCF-7 | breast: | |
39 | chr20:53502716..53505426-chr20:53509353..53511541,3 | MCF-7 | breast: | |
40 | chr17:62388286..62389270-chr20:53556195..53557221,3 | MCF-7 | breast: | |
41 | chr2:118571843..118572636-chr20:53555097..53555794,2 | MCF-7 | breast: | |
42 | chr20:53539021..53540627-chr3:64922370..64924459,2 | MCF-7 | breast: | |
43 | chr20:53481407..53483643-chr20:53508833..53510836,2 | MCF-7 | breast: | |
44 | chr20:53551907..53554133-chr3:64008745..64011433,2 | MCF-7 | breast: | |
45 | chr12:7051492..7053589-chr20:53551251..53553287,2 | MCF-7 | breast: | |
46 | chr17:59648813..59649546-chr20:53544658..53545268,2 | MCF-7 | breast: | |
47 | chr20:53555243..53556146-chr3:64469688..64470320,3 | MCF-7 | breast: | |
48 | chr17:57923077..57924669-chr20:53549563..53551716,2 | MCF-7 | breast: | |
49 | chr20:53528274..53530269-chr20:53537071..53540114,3 | MCF-7 | breast: | |
50 | chr20:53540100..53542351-chr3:141593622..141596213,2 | MCF-7 | breast: |
(count:5 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-DOK5-2 | chr20:53516762-53516885 | NONHSAT080422 |
2 | lnc-DOK5-2 | chr20:53501484-53501794 | NONHSAT080422 |
3 | lnc-DOK5-2 | chr20:53498810-53498914 | NONHSAT080422 |
4 | lnc-DOK5-2 | chr20:53518036-53518159 | NONHSAT080422 |
5 | lnc-DOK5-2 | chr20:53502282-53502378 | NONHSAT080422 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000184270 | chromatin interactions |
ENSG00000184678 | chromatin interactions |
ENSG00000156471 | chromatin interactions |
ENSG00000088205 | chromatin interactions |
ENSG00000197381 | chromatin interactions |
ENSG00000178096 | chromatin interactions |
ENSG00000111678 | chromatin interactions |
ENSG00000163636 | chromatin interactions |
ENSG00000163638 | chromatin interactions |
ENSG00000184260 | chromatin interactions |
ENSG00000156469 | chromatin interactions |
ENSG00000238923 | chromatin interactions |
ENSG00000069849 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs6023672 | chr20:53497139-53497140 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs115031509 | chr20:53497140-53497141 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs532668007 | chr20:53497149-53497150 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs12329616 | chr20:53497150-53497151 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
5 | rs569475485 | chr20:53497173-53497174 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs538052212 | chr20:53497174-53497175 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs555074547 | chr20:53497194-53497195 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs112803013 | chr20:53497223-53497224 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs187743897 | chr20:53497253-53497254 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs114206835 | chr20:53497291-53497292 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs283270 | chr20:53497298-53497299 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs17259564 | chr20:53497384-53497385 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs558431139 | chr20:53497389-53497390 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs75052402 | chr20:53497420-53497421 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs398101452 | chr20:53497422-53497423 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs560034910 | chr20:53497450-53497451 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs538945716 | chr20:53497484-53497485 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs35146414 | chr20:53497487-53497488 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
19 | rs56723921 | chr20:53497506-53497507 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
20 | rs564279183 | chr20:53497567-53497568 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs6098301 | chr20:53497613-53497614 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs6064129 | chr20:53497624-53497625 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
23 | rs141749478 | chr20:53497629-53497630 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs150133292 | chr20:53497642-53497643 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs36033340 | chr20:53497693-53497694 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
26 | rs541729894 | chr20:53497696-53497697 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs6064130 | chr20:53497701-53497702 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs6023673 | chr20:53497710-53497711 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
29 | rs6064131 | chr20:53497726-53497727 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs183990646 | chr20:53497746-53497747 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs188720921 | chr20:53497756-53497757 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs113212901 | chr20:53497757-53497758 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs192131161 | chr20:53497762-53497763 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs568642518 | chr20:53497832-53497833 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs377024525 | chr20:53497840-53497841 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs200620677 | chr20:53497886-53497887 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs200909419 | chr20:53497887-53497888 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs377722684 | chr20:53497888-53497889 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs534292059 | chr20:53497895-53497896 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs398061525 | chr20:53497896-53497897 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs60045350 | chr20:53497897-53497898 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs547872791 | chr20:53497916-53497917 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs6023674 | chr20:53497998-53497999 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs138655261 | chr20:53498006-53498007 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs558844020 | chr20:53498028-53498029 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs575462518 | chr20:53498031-53498032 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs1398111 | chr20:53498069-53498070 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
48 | rs111968907 | chr20:53498074-53498075 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs147353672 | chr20:53498076-53498077 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs532514617 | chr20:53498097-53498098 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Gastric cancer | 17908304 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Colorectal cancer | 21645411 | CNVD |
Pancreatic endocrine tumor | 17639061 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Melanoma | 21693616 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Astrocytoma | 17387387 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
colon cancer | 17210682 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Breast cancer | 22028636 | CNVD |
Breast cancer | 21264507 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Gastric cancer | 17167181 | CNVD |
Myeloproliferative neoplasm | 19047681 | CNVD |
Breast cancer | 17899364 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
Breast cancer | 17603634 | CNVD |
Melanoma | 18172304 | CNVD |
Breast cancer | 16608533 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Breast cancer | 17133270 | CNVD |
Oral cancer | 21386901 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Ewing''s sarcoma | 18628472 | CNVD |
Glioblastoma multiforme | 18628472 | CNVD |
Leukemia | 18628472 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Ductal carcinoma | 22052326 | CNVD |
Acute lymphoblastic leukemia | 18458336 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Gastric cancer | 20585902 | CNVD |
Ductal carcinoma | 18381933 | CNVD |
Cancer | 21129771 | CNVD |
Cancer | 21183584 | CNVD |
Non-small cell lung cancer | 20864512 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Lung cancer | 16740712 | CNVD |
Wilms tumour | 21544195 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Breast cancer | 16620391 | CNVD |
Okamoto syndrome | 17623483 | CNVD |
Breast cancer | 21858162 | CNVD |
Breast cancer | 21785460 | CNVD |
Bladder cancer | 21909424 | CNVD |
Biliary cancer | 19435499 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Barrett''s adenocarcinoma | 18663352 | CNVD |
Cervical cancer | 16585170 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Breast cancer | 21364760 | CNVD |
Breast cancer | 20459607 | CNVD |
Gastric cancer | 18160780 | CNVD |
Anaplastic large cell lymphoma | 18179710 | CNVD |
Lung cancer | 18438408 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Melanoma | 17363583 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr20:53495400-53508800 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
2 | chr20:53509000-53509400 | Enhancers | Fetal Lung | lung |
3 | chr20:53525200-53525400 | Flanking Active TSS | Brain Hippocampus Middle | brain |
4 | chr20:53525400-53525600 | Active TSS | Brain Hippocampus Middle | brain |
5 | chr20:53536600-53537600 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
6 | chr20:53537200-53537600 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
7 | chr20:53551600-53552400 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
8 | chr20:53551800-53552200 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
9 | chr20:53555200-53556200 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
10 | chr20:53556800-53558200 | Enhancers | Fetal Brain Female | brain |
11 | chr20:53557000-53558400 | Enhancers | Fetal Brain Male | brain |
12 | chr20:53558400-53569600 | Weak transcription | Fetal Brain Male | brain |