Variant report

Variant	nsv968095
Chromosome Location	chr5:59170889-59174053
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	chr5:59169313..59171602-chr5:59172482..59174031,2	MCF-7	breast:
2	chr5:59169313..59171602-chr5:59172482..59174031,2	MCF-7	breast:

Extended variants
information (count: 104 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539934253	chr5:59170906-59170907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552154262	chr5:59170931-59170932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113566312	chr5:59170957-59170958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373307170	chr5:59170993-59170994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553709926	chr5:59171012-59171013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573762100	chr5:59171053-59171054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564214314	chr5:59171054-59171055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190838158	chr5:59171057-59171058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562822025	chr5:59171157-59171158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111691907	chr5:59171159-59171160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181827549	chr5:59171178-59171179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565270474	chr5:59171179-59171180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs56312039	chr5:59171201-59171202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs159623	chr5:59171227-59171228	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs547854015	chr5:59171243-59171244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543056480	chr5:59171244-59171245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186376533	chr5:59171263-59171264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190478996	chr5:59171282-59171283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs3062667	chr5:59171311-59171312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs159624	chr5:59171345-59171346	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs35615026	chr5:59171378-59171379	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs183015191	chr5:59171396-59171397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551006505	chr5:59171486-59171487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188402155	chr5:59171508-59171509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533681928	chr5:59171510-59171511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114410253	chr5:59171552-59171553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191249707	chr5:59171556-59171557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536449231	chr5:59171580-59171581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs16890338	chr5:59171582-59171583	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs576444862	chr5:59171607-59171608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111353495	chr5:59171636-59171637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565314155	chr5:59171736-59171737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147844020	chr5:59171799-59171800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72751293	chr5:59171838-59171839	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs561434825	chr5:59171863-59171864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141411592	chr5:59171867-59171868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187745583	chr5:59171868-59171869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113889255	chr5:59171901-59171902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191568100	chr5:59171917-59171918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184832744	chr5:59171934-59171935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552439670	chr5:59172018-59172019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566000111	chr5:59172029-59172030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1369286	chr5:59172070-59172071	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs147014720	chr5:59172072-59172073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147604827	chr5:59172139-59172140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538538650	chr5:59172170-59172171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377617135	chr5:59172232-59172233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576965796	chr5:59172234-59172235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114345470	chr5:59172252-59172253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143077895	chr5:59172295-59172296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
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
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59160800-59189000	Weak transcription	Aorta	Aorta
2	chr5:59164800-59172000	Enhancers	HSMM	muscle
3	chr5:59165000-59171000	Enhancers	HSMMtube	muscle
4	chr5:59167000-59172400	Enhancers	Hela-S3	cervix
5	chr5:59167200-59171000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr5:59167600-59171200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:59167800-59171200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:59168200-59171000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:59170600-59171000	Enhancers	A549	lung
10	chr5:59171000-59171200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:59172400-59176000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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