Variant report

Variant	nsv969953
Chromosome Location	chr5:43943510-43949010
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43943850..43945210-chr5:44332166..44333349,5	MCF-7	breast:
2	chr5:43944227..43945254-chr5:44332040..44333058,5	MCF-7	breast:

Extended variants
information (count: 313 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554171364	chr5:43943510-43943511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577510791	chr5:43943521-43943522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546068841	chr5:43943552-43943553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547004213	chr5:43943566-43943567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182820099	chr5:43943570-43943571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534213277	chr5:43943580-43943581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187173634	chr5:43943591-43943592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373520019	chr5:43943655-43943656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544349627	chr5:43943696-43943697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560834431	chr5:43943731-43943732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529725978	chr5:43943755-43943756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558714906	chr5:43943789-43943790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566653224	chr5:43943836-43943837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190754404	chr5:43943842-43943843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552071212	chr5:43943888-43943889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577146291	chr5:43943889-43943890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150938986	chr5:43943955-43943956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537913943	chr5:43944024-43944025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538760333	chr5:43944042-43944043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201058456	chr5:43944107-43944108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79457285	chr5:43944177-43944178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35013918	chr5:43944190-43944191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs554176473	chr5:43944203-43944204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182989700	chr5:43944264-43944265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540151142	chr5:43944289-43944290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575094893	chr5:43944293-43944294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556455393	chr5:43944311-43944312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189127897	chr5:43944314-43944315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532501303	chr5:43944323-43944324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560971074	chr5:43944335-43944336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115701606	chr5:43944352-43944353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111232025	chr5:43944356-43944357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113572191	chr5:43944369-43944370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539838490	chr5:43944372-43944373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560790998	chr5:43944374-43944375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560128589	chr5:43944414-43944415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114706942	chr5:43944449-43944450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552460796	chr5:43944467-43944468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527947711	chr5:43944473-43944474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552822544	chr5:43944479-43944480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531404346	chr5:43944508-43944509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72764217	chr5:43944544-43944545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73753694	chr5:43944545-43944546	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs35374202	chr5:43944591-43944592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs34338792	chr5:43944610-43944611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs145903442	chr5:43944633-43944634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193002599	chr5:43944662-43944663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556908284	chr5:43944679-43944680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376735722	chr5:43944682-43944683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138720784	chr5:43944723-43944724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21569311	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43942000-43946000	Weak transcription	Adipose Nuclei	Adipose
2	chr5:43946000-43946800	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr5:43946200-43946600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:43946800-43947800	Weak transcription	Adipose Nuclei	Adipose
5	chr5:43947400-43948000	Enhancers	Fetal Lung	lung
6	chr5:43947400-43949200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:43947600-43949200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:43947800-43948200	Enhancers	Adipose Nuclei	Adipose
9	chr5:43949000-43950000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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