Variant report
Variant | nsv592991 |
---|---|
Chromosome Location | chr3:195192088-195213881 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- 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 | chr3:195187214..195189677-chr3:195190793..195193536,2 | K562 | blood: |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-ACAP2-1 | chr3:195204068-195204142 | refGeneNc_4303_NR_033944 |
No data |
No data |
No data |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs1493703 | chr3:195192088-195192089 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs183967379 | chr3:195192169-195192170 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs538819140 | chr3:195192170-195192171 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs546801063 | chr3:195192214-195192215 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs142311872 | chr3:195192254-195192255 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs532645111 | chr3:195192298-195192299 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs148309582 | chr3:195192301-195192302 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs73890835 | chr3:195192373-195192374 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
9 | rs569241292 | chr3:195192390-195192391 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs558711797 | chr3:195192530-195192531 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs548415913 | chr3:195192608-195192609 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs563461731 | chr3:195192633-195192634 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs143184605 | chr3:195192653-195192654 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs34672493 | chr3:195192657-195192658 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs530734639 | chr3:195192706-195192707 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs367958826 | chr3:195192767-195192768 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs188260807 | chr3:195192796-195192797 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs181313792 | chr3:195192814-195192815 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
19 | rs572042644 | chr3:195192835-195192836 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
20 | rs186154383 | chr3:195192846-195192847 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
21 | rs556733170 | chr3:195192881-195192882 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
22 | rs575216293 | chr3:195192912-195192913 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
23 | rs541061987 | chr3:195192916-195192917 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
24 | rs560729887 | chr3:195192942-195192943 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
25 | rs371730450 | chr3:195192952-195192953 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
26 | rs570788479 | chr3:195192975-195192976 | Weak transcription Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
27 | rs574327175 | chr3:195193017-195193018 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
28 | rs190312942 | chr3:195193044-195193045 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
29 | rs114201831 | chr3:195193169-195193170 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
30 | rs78449783 | chr3:195193191-195193192 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
31 | rs116303023 | chr3:195193192-195193193 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
32 | rs373287733 | chr3:195193210-195193211 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs181516358 | chr3:195193270-195193271 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs374230737 | chr3:195193295-195193296 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs557598406 | chr3:195193333-195193334 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs551058881 | chr3:195193344-195193345 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs112114866 | chr3:195193352-195193353 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs148194740 | chr3:195193363-195193364 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs62285631 | chr3:195193431-195193432 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
40 | rs568217150 | chr3:195193444-195193445 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs186891906 | chr3:195193456-195193457 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs567182404 | chr3:195193518-195193519 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs534218700 | chr3:195193591-195193592 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs542929945 | chr3:195193598-195193599 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs115813710 | chr3:195193608-195193609 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs373698296 | chr3:195193620-195193621 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs538020975 | chr3:195193662-195193663 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs77372312 | chr3:195193663-195193664 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs575234072 | chr3:195193677-195193678 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs536273291 | chr3:195193685-195193686 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Basal cell lymphoma | 17053054 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Retinoblastoma | 21504564 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Autism | 22495311 | CNVD |
Lung cancer | 18438408 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Melanoma | 18172304 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Breast cancer | 16461572 | CNVD |
Neuroblastoma | 17533364 | CNVD |
Cervical Cancer | 21857958 | CNVD |
Melanoma | 21693616 | CNVD |
Lung cancer | 21426551 | CNVD |
Cancer | 21637783 | CNVD |
Cervical cancer | 21063398 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Liposarcoma | 21253554 | CNVD |
Oral cancer | 21386901 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Cancer | 22065749 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Breast cancer | 16608533 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Breast cancer | 21785460 | CNVD |
Breast cancer | 17133270 | CNVD |
Cancer | 16751803 | CNVD |
abnormal development | 18461090 | CNVD |
Autism | 19653912 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Cancer | 20164920 | CNVD |
Prostate cancer | 18632612 | CNVD |
Cervical cancer | 21062161 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Austim spectrum disorder | 21302340 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Breast cancer | 16397240 | CNVD |
Epilepsy | 20736978 | CNVD |
Mental retardation | 20736978 | CNVD |
speech impairment | 20736978 | CNVD |
Intracranial aneurysm | 16715129 | CNVD |
Esophageal squamous carcinoma | 17470683 | CNVD |
Mental retardation | 17124404 | CNVD |
Congenital anomalies of the kidney and urinary tract | 20299530 | CNVD |
Developmental delay | 21147756 | CNVD |
Breast cancer | 21509527 | CNVD |
Cancer | 21129771 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Neurodevelopmental disorder | 16760732 | CNVD |
Schizophrenia | 22118685 | CNVD |
Schizophrenia | 22958593 | CNVD |
Schizophrenia | 21285140 | CNVD |
Schizophrenia | 20970697 | CNVD |
Mental retardation | 19951919 | CNVD |
Autism | 20970697 | CNVD |
Developmental delay | 18471269 | CNVD |
Intellectual disability | 22045946 | CNVD |
Breast cancer | 21045282 | CNVD |
Primary central nervous system lymphoma | 21088137 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Adenocarcinoma | 19607727 | CNVD |
Squamous cell cancer | 19607727 | CNVD |
Uveal melanoma | 20484589 | CNVD |
3q29 microdeletion syndrome | 20500065 | CNVD |
Biliary cancer | 20453639 | CNVD |
3q29 microdeletion syndrome | 22283845 | CNVD |
3q29 microdeletion syndrome | 21626679 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Breast cancer | 21364760 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:195182600-195194800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
2 | chr3:195191400-195192800 | Weak transcription | Ovary | ovary |
3 | chr3:195192800-195193000 | Enhancers | Ovary | ovary |
4 | chr3:195192800-195193000 | Enhancers | Spleen | Spleen |
5 | chr3:195192800-195193200 | Active TSS | Stomach Smooth Muscle | stomach |
6 | chr3:195194600-195194800 | Flanking Active TSS | HepG2 | liver |
7 | chr3:195194800-195195000 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
8 | chr3:195194800-195195000 | Enhancers | Esophagus | oesophagus |
9 | chr3:195194800-195195200 | Enhancers | HepG2 | liver |
10 | chr3:195195000-195195200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
11 | chr3:195195200-195195400 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
12 | chr3:195195400-195198200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
13 | chr3:195198200-195198400 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |