Variant report
Variant | nsv524186 |
---|---|
Chromosome Location | chr1:213637483-213641943 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- 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 | rs553282567 | chr1:213638035-213638036 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs12757168 | chr1:213638079-213638080 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
3 | rs571808746 | chr1:213638123-213638124 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs538913058 | chr1:213638133-213638134 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs556948087 | chr1:213638134-213638135 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs139113928 | chr1:213638177-213638178 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs542793732 | chr1:213638193-213638194 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs189296189 | chr1:213638215-213638216 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs532115256 | chr1:213638218-213638219 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs572979598 | chr1:213638222-213638223 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs540454148 | chr1:213638225-213638226 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs565039087 | chr1:213638239-213638240 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs181290542 | chr1:213638262-213638263 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs551850051 | chr1:213638266-213638267 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs544470857 | chr1:213638334-213638335 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs565388511 | chr1:213638341-213638342 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs536208515 | chr1:213638350-213638351 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs554287921 | chr1:213638351-213638352 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs562392241 | chr1:213638380-213638381 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs529684311 | chr1:213638432-213638433 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs6700506 | chr1:213638442-213638443 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
22 | rs143730257 | chr1:213638522-213638523 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs527370525 | chr1:213638523-213638524 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs546808846 | chr1:213638570-213638571 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs548725693 | chr1:213638591-213638592 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs571469513 | chr1:213638668-213638669 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs112589880 | chr1:213638709-213638710 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs76619127 | chr1:213638724-213638725 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs374817608 | chr1:213638732-213638733 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs550851298 | chr1:213638739-213638740 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs6667442 | chr1:213638762-213638763 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
32 | rs557434400 | chr1:213638786-213638787 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs201002839 | chr1:213638849-213638850 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs148085347 | chr1:213638975-213638976 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs573301754 | chr1:213638998-213638999 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs570857191 | chr1:213639019-213639020 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs186413695 | chr1:213639070-213639071 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs558787484 | chr1:213639142-213639143 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs577109636 | chr1:213639194-213639195 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs544559063 | chr1:213639229-213639230 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs72551199 | chr1:213639233-213639234 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs320479 | chr1:213639234-213639235 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
43 | rs189146087 | chr1:213639258-213639259 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs141859972 | chr1:213639270-213639271 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs181550779 | chr1:213639274-213639275 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs527395549 | chr1:213639346-213639347 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs150155796 | chr1:213639356-213639357 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs565176694 | chr1:213639376-213639377 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs141709672 | chr1:213639438-213639439 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs577510251 | chr1:213639448-213639449 | Enhancers | 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 |
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 |
Liposarcoma | 21253554 | 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 |
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 |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Chordoma | 18071362 | 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 |
Hepatocellular carcinoma | 16750200 | 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 |
small cell lung cancer | 20016488 | CNVD |
Ovarian clear cell carcinoma | 19293255 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Holoprosencephaly | 19184110 | CNVD |
Breast cancer | 21069454 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Mental retardation | 19951919 | CNVD |
Non-syndromic sensorineural hearing loss | 17873649 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
T-cell lymphomas | 22341440 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:213638000-213640000 | Enhancers | NHEK | skin |
2 | chr1:213638200-213639000 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
3 | chr1:213638200-213639400 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
4 | chr1:213638200-213639400 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
5 | chr1:213638200-213640000 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
6 | chr1:213638200-213640200 | Enhancers | Placenta Amnion | Placenta Amnion |
7 | chr1:213638400-213638800 | Enhancers | HMEC | breast |
8 | chr1:213639000-213639800 | Enhancers | Placenta | Placenta |
9 | chr1:213640000-213649200 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |