Variant report
Variant | nsv882639 |
---|---|
Chromosome Location | chr5:104898706-104980355 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:20)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:20 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:104926004..104928970-chr5:104930124..104932222,3 | K562 | blood: | |
2 | chr5:104929507..104932104-chr5:104932394..104934135,2 | MCF-7 | breast: | |
3 | chr5:104952005..104953083-chr5:105576858..105577888,9 | MCF-7 | breast: | |
4 | chr5:104952039..104952571-chr5:105577029..105577838,2 | MCF-7 | breast: | |
5 | chr5:104950620..104953196-chr5:104960454..104963137,2 | K562 | blood: | |
6 | chr5:104927470..104929144-chr5:104929220..104932182,2 | K562 | blood: | |
7 | chr5:104943469..104946264-chr5:104959458..104962320,2 | K562 | blood: | |
8 | chr5:104952188..104952864-chr5:105577091..105577886,5 | MCF-7 | breast: | |
9 | chr5:104369743..104372595-chr5:104912590..104914639,2 | K562 | blood: | |
10 | chr5:104950620..104953196-chr5:104960454..104963137,2 | K562 | blood: | |
11 | chr5:103982040..103982621-chr5:104952113..104952873,2 | MCF-7 | breast: | |
12 | chr5:104955261..104956180-chr5:105577014..105577827,4 | MCF-7 | breast: | |
13 | chr5:104928031..104930264-chr5:104952247..104955234,2 | MCF-7 | breast: | |
14 | chr5:104943469..104946264-chr5:104959458..104962320,2 | K562 | blood: | |
15 | chr5:104926004..104928970-chr5:104930124..104932222,3 | K562 | blood: | |
16 | chr5:104952005..104953083-chr5:105576858..105577888,8 | MCF-7 | breast: | |
17 | chr5:104955524..104956144-chr5:105577134..105577974,2 | MCF-7 | breast: | |
18 | chr5:104928031..104930264-chr5:104952247..104955234,2 | MCF-7 | breast: | |
19 | chr5:104929507..104932104-chr5:104932394..104934135,2 | MCF-7 | breast: | |
20 | chr5:104927470..104929144-chr5:104929220..104932182,2 | K562 | blood: |
No data |
No data |
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs11952396 | chr5:104898706-104898707 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs536280488 | chr5:104898751-104898752 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs531916970 | chr5:104898783-104898784 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs116719999 | chr5:104898802-104898803 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs539360754 | chr5:104898825-104898826 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs559059330 | chr5:104898864-104898865 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs370790962 | chr5:104898900-104898901 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs575756160 | chr5:104898923-104898924 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs553651293 | chr5:104898930-104898931 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs116105052 | chr5:104898950-104898951 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs183697295 | chr5:104898981-104898982 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs373582180 | chr5:104899015-104899016 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs188616452 | chr5:104899021-104899022 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs570375553 | chr5:104899048-104899049 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs540267897 | chr5:104899067-104899068 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs560131341 | chr5:104899091-104899092 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs576599436 | chr5:104899117-104899118 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs532164716 | chr5:104899120-104899121 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs543717037 | chr5:104899148-104899149 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs193269019 | chr5:104899167-104899168 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs528340996 | chr5:104899178-104899179 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs544979027 | chr5:104899239-104899240 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs565050717 | chr5:104899265-104899266 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs530663062 | chr5:104899298-104899299 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs184209693 | chr5:104899299-104899300 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs550627449 | chr5:104899306-104899307 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs567403909 | chr5:104899331-104899332 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs188209737 | chr5:104899399-104899400 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs75874375 | chr5:104899417-104899418 | Active TSS Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
30 | rs114588323 | chr5:104899429-104899430 | Active TSS Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
31 | rs539296652 | chr5:104899432-104899433 | Active TSS Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
32 | rs367717202 | chr5:104899436-104899437 | Active TSS Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
33 | rs552633170 | chr5:104899485-104899486 | Active TSS Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
34 | rs144968173 | chr5:104899519-104899520 | Active TSS Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
35 | rs538086810 | chr5:104899554-104899555 | Active TSS Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
36 | rs555035158 | chr5:104899598-104899599 | Active TSS Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
37 | rs191569972 | chr5:104899612-104899613 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
38 | rs534050479 | chr5:104899647-104899648 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
39 | rs553704139 | chr5:104899704-104899705 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
40 | rs539086424 | chr5:104899721-104899722 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
41 | rs10045019 | chr5:104899731-104899732 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
42 | rs565059837 | chr5:104899733-104899734 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
43 | rs6868808 | chr5:104899742-104899743 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
44 | rs368475854 | chr5:104899756-104899757 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
45 | rs184143781 | chr5:104899762-104899763 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
46 | rs561086893 | chr5:104899763-104899764 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
47 | rs188853097 | chr5:104899795-104899796 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
48 | rs141757975 | chr5:104899796-104899797 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
49 | rs573216133 | chr5:104917602-104917603 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs559387227 | chr5:104917607-104917608 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Metanephric adenoma | 20802469 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Malaria | 21533027 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Cancer | 20164919 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Cancer | 16751803 | CNVD |
Intellectual disability | 22102821 | CNVD |
Breast cancer | 17603634 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Melanoma | 18172304 | CNVD |
Glioma | 20126413 | CNVD |
Breast cancer | 17393978 | CNVD |
Cancer | 21359685 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
adenomatous polyposis | 22470819 | CNVD |
Cancer | 22429812 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Liposarcoma | 21253554 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Breast cancer | 21858162 | CNVD |
Leukemia | 17361228 | CNVD |
Myelodysplastic syndrome | 18508791 | CNVD |
5q-syndrome | 17576883 | CNVD |
Gastric cancer | 17908304 | CNVD |
Lung cancer | 16740712 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Esophageal adenocarcinoma | 19417022 | CNVD |
Barrett''s syndrome | 19417022 | CNVD |
Lung cancer | 18438408 | CNVD |
Retinoblastoma | 22278416 | CNVD |
Bipolar disorder | 18458673 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Breast cancer | 21785460 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 17133270 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Prostate cancer | 16573809 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Cancer | 20164920 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
abnormal development | 18461090 | CNVD |
Colorectal cancer | 16774939 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Neurocytoma | 17123091 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Breast cancer | 21509527 | CNVD |
Breast cancer | 16608533 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Lung cancer | 16773561 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:104891000-104899400 | Weak transcription | Aorta | Aorta |
2 | chr5:104899400-104899600 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
3 | chr5:104899400-104899600 | ZNF genes & repeats | Aorta | Aorta |
4 | chr5:104899400-104899800 | Active TSS | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
5 | chr5:104917600-104918000 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
6 | chr5:104918000-104918400 | Enhancers | HUES6 Cell Line | embryonic stem cell |
7 | chr5:104918000-104918400 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
8 | chr5:104923800-104924200 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
9 | chr5:104928800-104929000 | Enhancers | K562 | blood |
10 | chr5:104929000-104929400 | Flanking Active TSS | K562 | blood |
11 | chr5:104929400-104930200 | Enhancers | K562 | blood |
12 | chr5:104952400-104954400 | Enhancers | Fetal Lung | lung |
13 | chr5:104966400-104967000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
14 | chr5:104974000-104974400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
15 | chr5:104974000-104974600 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
16 | chr5:104974000-104974600 | Enhancers | HUES64 Cell Line | embryonic stem cell |
17 | chr5:104974000-104975200 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
18 | chr5:104974000-104975400 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
19 | chr5:104974200-104975000 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
20 | chr5:104974800-104975000 | ZNF genes & repeats | Pancreas | Pancrea |
21 | chr5:104974800-104975200 | Active TSS | H1 Derived Mesenchymal Stem Cells | ES cell derived |
22 | chr5:104974800-104975200 | Enhancers | HUES6 Cell Line | embryonic stem cell |
23 | chr5:104974800-104975200 | Enhancers | Placenta | Placenta |
24 | chr5:104975200-104977200 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |