Variant report
Variant | esv1821162 |
---|---|
Chromosome Location | chr1:210076345-210086267 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs76151833 | chr1:210076396-210076397 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs564653695 | chr1:210076430-210076431 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs568296230 | chr1:210076446-210076447 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs12407647 | chr1:210076483-210076484 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
5 | rs111519448 | chr1:210076501-210076502 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs550723240 | chr1:210076580-210076581 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs562788428 | chr1:210076581-210076582 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs530302626 | chr1:210076585-210076586 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs374725487 | chr1:210076604-210076605 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs190493000 | chr1:210076616-210076617 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs560789764 | chr1:210076627-210076628 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs527705339 | chr1:210076632-210076633 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs372638160 | chr1:210076751-210076752 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs142580722 | chr1:210076756-210076757 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs143334572 | chr1:210076826-210076827 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs570872314 | chr1:210076827-210076828 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs183101606 | chr1:210076881-210076882 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs9430020 | chr1:210076884-210076885 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
19 | rs188478683 | chr1:210076920-210076921 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs72649912 | chr1:210076950-210076951 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
21 | rs559038738 | chr1:210076952-210076953 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs573058994 | chr1:210076981-210076982 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs533828489 | chr1:210077022-210077023 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
24 | rs558158501 | chr1:210077077-210077078 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
25 | rs576426827 | chr1:210077080-210077081 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
26 | rs543940258 | chr1:210077086-210077087 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
27 | rs72649913 | chr1:210077087-210077088 | Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs11119363 | chr1:210077113-210077114 | Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
29 | rs542379714 | chr1:210077122-210077123 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
30 | rs560506711 | chr1:210077127-210077128 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
31 | rs528018613 | chr1:210077179-210077180 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
32 | rs148384437 | chr1:210077307-210077308 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
33 | rs556771014 | chr1:210077309-210077310 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
34 | rs2142862 | chr1:210077317-210077318 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
35 | rs147642424 | chr1:210077395-210077396 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
36 | rs192222726 | chr1:210077449-210077450 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
37 | rs12144127 | chr1:210077450-210077451 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
38 | rs184063305 | chr1:210077458-210077459 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
39 | rs80345530 | chr1:210077460-210077461 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
40 | rs372184673 | chr1:210077462-210077463 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
41 | rs568515009 | chr1:210077488-210077489 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
42 | rs536073820 | chr1:210077489-210077490 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
43 | rs548398131 | chr1:210077524-210077525 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
44 | rs566525868 | chr1:210077545-210077546 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
45 | rs141562390 | chr1:210077553-210077554 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
46 | rs11119364 | chr1:210077581-210077582 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
47 | rs576436637 | chr1:210077593-210077594 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
48 | rs7549696 | chr1:210077605-210077606 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
49 | rs116825213 | chr1:210077607-210077608 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
50 | rs61820366 | chr1:210077611-210077612 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Breast cancer | 17603634 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Schizophrenia | 19415332 | CNVD |
Autism | 22495311 | CNVD |
Liposarcoma | 21253554 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Melanoma | 18172304 | CNVD |
Rett syndrome | 21593744 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Cancer | 20164919 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 17133270 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Cervical cancer | 21063398 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 20632083 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Medulloblastoma | 21292688 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Breast cancer | 21264507 | CNVD |
Multiple myeloma | 21628407 | CNVD |
Cancer | 16751803 | CNVD |
Prostate cancer | 16705090 | CNVD |
Neuroblastoma | 19435921 | CNVD |
Breast cancer | 17850661 | CNVD |
Breast cancer | 16461572 | CNVD |
Intracranial tumor | 16823260 | CNVD |
Medulloblastoma | 18056178 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Neuroblastoma | 21899760 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
Breast cancer | 21858162 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Breast cancer | 16608533 | CNVD |
Ewing''s sarcoma | 22429812 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 17001317 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Prostate cancer | 18632612 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Ependymoma | 18628472 | CNVD |
Leukemia | 18628472 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Acute lymphoblastic leukemia | 19100363 | CNVD |
Breast cancer | 21509527 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Breast cancer | 17393978 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Trisomy 5 syndrome | 21098271 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Chordoma | 18071362 | CNVD |
Macular degeneration | 22558131 | CNVD |
Alzheimer''s disease | 21403675 | CNVD |
Multiple myeloma | 16461302 | CNVD |
van der Woude syndrome | 22470819 | CNVD |
van der Woude syndrome | 20818247 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Cancer | 17060936 | CNVD |
Atypical hemolytic uremic syndrome | 19861685 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Urothelial tumor | 18831757 | CNVD |
Lung cancer | 18438408 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Breast cancer | 21364760 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Ovarian clear cell carcinoma | 19293255 | CNVD |
Breast cancer | 21611746 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:210076200-210077000 | Enhancers | HMEC | breast |
2 | chr1:210077000-210077200 | Flanking Active TSS | HMEC | breast |
3 | chr1:210077200-210078200 | Active TSS | HMEC | breast |
4 | chr1:210079400-210081000 | Weak transcription | Fetal Kidney | kidney |
5 | chr1:210084800-210085600 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
6 | chr1:210084800-210086000 | Enhancers | HMEC | breast |
7 | chr1:210086200-210086400 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |