Variant report
Variant | nsv1023591 |
---|---|
Chromosome Location | chr8:64446416-64477621 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:64460709..64463439-chr8:64465301..64467197,2 | K562 | blood: | |
2 | chr8:64458732..64460649-chr8:64460951..64463159,2 | MCF-7 | breast: | |
3 | chr8:64460709..64463439-chr8:64465301..64467197,2 | K562 | blood: | |
4 | chr8:64458732..64460649-chr8:64460951..64463159,2 | MCF-7 | breast: |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-TTPA-9 | chr8:64459951-64461018 | ucscGeneNc_uc003xvb_1 |
No data |
No data |
No data |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs115267112 | chr8:64453416-64453417 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
2 | rs190214875 | chr8:64453423-64453424 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
3 | rs548607830 | chr8:64453475-64453476 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
4 | rs563855434 | chr8:64453476-64453477 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
5 | rs182110002 | chr8:64453512-64453513 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
6 | rs551819364 | chr8:64453557-64453558 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
7 | rs570196261 | chr8:64453578-64453579 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
8 | rs534439116 | chr8:64453590-64453591 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
9 | rs546184936 | chr8:64453591-64453592 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
10 | rs141593823 | chr8:64456244-64456245 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs549598075 | chr8:64456256-64456257 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs146214435 | chr8:64456277-64456278 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs139090940 | chr8:64456281-64456282 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs75703887 | chr8:64456328-64456329 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs566866010 | chr8:64456336-64456337 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs149887301 | chr8:64456372-64456373 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs371357108 | chr8:64456385-64456386 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs574120323 | chr8:64456437-64456438 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs538428339 | chr8:64456440-64456441 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs556826377 | chr8:64456441-64456442 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs577810840 | chr8:64456443-64456444 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs548940989 | chr8:64456472-64456473 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs192503938 | chr8:64456513-64456514 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs111318354 | chr8:64456524-64456525 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs190519010 | chr8:64456529-64456530 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs115812723 | chr8:64456535-64456536 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs145395463 | chr8:64456541-64456542 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs561219245 | chr8:64456599-64456600 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs181458389 | chr8:64456619-64456620 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs549561061 | chr8:64456622-64456623 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs564777888 | chr8:64456637-64456638 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs533211505 | chr8:64456654-64456655 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs374400834 | chr8:64456662-64456663 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs117413838 | chr8:64456666-64456667 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs148789341 | chr8:64456670-64456671 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs559412832 | chr8:64456705-64456706 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs534217169 | chr8:64456709-64456710 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs370194086 | chr8:64456803-64456804 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs142465044 | chr8:64456814-64456815 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs538587718 | chr8:64456817-64456818 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs184412012 | chr8:64456840-64456841 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs77544372 | chr8:64456858-64456859 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs374000401 | chr8:64456861-64456862 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs207469283 | chr8:64456890-64456891 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs537126089 | chr8:64456903-64456904 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs553853929 | chr8:64456908-64456909 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs572080595 | chr8:64456990-64456991 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs7462453 | chr8:64456996-64456997 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs528600297 | chr8:64457019-64457020 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs188409929 | chr8:64457021-64457022 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Cancer | 16751803 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Wilms tumour | 21544195 | CNVD |
Gastric cancer | 17908304 | CNVD |
Melanoma | 18172304 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Autism | 19415332 | CNVD |
Malaria | 21533027 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Breast cancer | 21245420 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Seminomas | 18059402 | CNVD |
Autism | 22495311 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Pancreatic cancer | 21811587 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Breast cancer | 17603634 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Testicular cancer | 18059402 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Breast cancer | 17133270 | CNVD |
Breast cancer | 21509527 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Breast cancer | 21858162 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Cancer | 20164919 | CNVD |
primary effusion lymphomas | 17116491 | CNVD |
Esophageal cancer | 20955586 | CNVD |
Multiple myeloma | 16461302 | CNVD |
abnormal development | 18461090 | CNVD |
Cancer | 20164920 | CNVD |
Oral cancer | 21386901 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Langer-Giedion syndrome | 22283845 | CNVD |
Cancer | 21637783 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 20632083 | CNVD |
Breast cancer | 19602461 | CNVD |
Cancer | 22429812 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Oral cancer | 19627613 | CNVD |
Prostate cancer | 21088497 | CNVD |
colon cancer | 17210682 | CNVD |
Breast cancer | 21264507 | CNVD |
Breast cancer | 22028636 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Gastric cancer | 17167181 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Breast cancer | 16461572 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Medulloblastoma | 16968546 | CNVD |
head and neck squamous cell carcinoma | 18028549 | CNVD |
Breast cancer | 17001317 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Lung cancer | 18438408 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Breast cancer | 16608533 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Prostate cancer | 18632612 | CNVD |
Glioblastoma multiforme | 18628472 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Prostate cancer | 16573809 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Melanoma | 22183965 | CNVD |
Cancer | 21949371 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Acute myeloid leukemia | 21358987 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Adenocarcinoma | 21044232 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Sezary syndrome | 18413736 | CNVD |
Colorectal cancer | 21645411 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:64453400-64453600 | ZNF genes & repeats | Pancreas | Pancrea |
2 | chr8:64456200-64457200 | Enhancers | Fetal Muscle Leg | muscle |
3 | chr8:64456400-64457000 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
4 | chr8:64470400-64470800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
5 | chr8:64470800-64473200 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
6 | chr8:64471000-64473200 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
7 | chr8:64471600-64472600 | ZNF genes & repeats | H9 Cell Line | embryonic stem cell |
8 | chr8:64472200-64473400 | ZNF genes & repeats | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
9 | chr8:64472400-64472800 | ZNF genes & repeats | Liver | Liver |
10 | chr8:64473400-64478800 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
11 | chr8:64474400-64474600 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
12 | chr8:64474600-64474800 | Enhancers | Psoas Muscle | Psoas |
13 | chr8:64474600-64475800 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
14 | chr8:64475400-64475600 | Enhancers | Fetal Brain Male | brain |
15 | chr8:64475400-64475600 | Enhancers | Fetal Brain Female | brain |
16 | chr8:64475600-64477200 | Weak transcription | Fetal Brain Female | brain |
17 | chr8:64475800-64476800 | Weak transcription | Fetal Brain Male | brain |
18 | chr8:64476200-64478000 | Enhancers | Brain Germinal Matrix | brain |
19 | chr8:64476800-64477000 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
20 | chr8:64476800-64479800 | Enhancers | Fetal Brain Male | brain |
21 | chr8:64477000-64478000 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
22 | chr8:64477200-64478200 | Enhancers | Fetal Brain Female | brain |
23 | chr8:64477200-64478400 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
24 | chr8:64477400-64477800 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
25 | chr8:64477600-64478600 | Enhancers | Brain Cingulate Gyrus | brain |