Variant report

Variant	nsv524203
Chromosome Location	chr8:51161232-51188675
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	chr8:51187159..51189399-chr8:51189828..51191872,2	MCF-7	breast:

Extended variants
information (count: 341 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:341 , 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	rs4873439	chr8:51161232-51161233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs79741494	chr8:51161254-51161255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567387080	chr8:51161255-51161256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528728665	chr8:51161267-51161268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534511633	chr8:51161327-51161328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543731784	chr8:51161343-51161344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571358447	chr8:51161346-51161347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4368993	chr8:51161360-51161361	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs115571351	chr8:51161386-51161387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75315928	chr8:51161387-51161388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369901507	chr8:51161392-51161393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139303713	chr8:51161396-51161397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555881778	chr8:51161486-51161487	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs565062360	chr8:51161535-51161536	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs112656788	chr8:51161553-51161554	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs188859699	chr8:51161573-51161574	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs372152108	chr8:51161580-51161581	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs553490521	chr8:51161588-51161589	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs75601234	chr8:51161615-51161616	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545267010	chr8:51161632-51161633	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563664696	chr8:51161650-51161651	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374860322	chr8:51161657-51161658	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530407579	chr8:51161660-51161661	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542252736	chr8:51161679-51161680	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs193105501	chr8:51161712-51161713	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555541064	chr8:51161713-51161714	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532393543	chr8:51161723-51161724	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183503033	chr8:51161777-51161778	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186726651	chr8:51161783-51161784	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571387037	chr8:51161785-51161786	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532370058	chr8:51161839-51161840	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550872453	chr8:51161842-51161843	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376511570	chr8:51161872-51161873	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569209102	chr8:51161897-51161898	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537439501	chr8:51161920-51161921	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560166970	chr8:51161949-51161950	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114480131	chr8:51161962-51161963	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572969365	chr8:51161977-51161978	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111413095	chr8:51161979-51161980	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149624409	chr8:51161980-51161981	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201542088	chr8:51162011-51162012	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs534532161	chr8:51162024-51162025	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs578105819	chr8:51162026-51162027	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs566304029	chr8:51162056-51162057	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs144316083	chr8:51162073-51162074	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs533637227	chr8:51162091-51162092	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs191389268	chr8:51162109-51162110	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs557486049	chr8:51162112-51162113	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs4431606	chr8:51162114-51162115	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs141022427	chr8:51162201-51162202	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51156800-51161400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:51160200-51167200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:51161400-51162400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:51161600-51162000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:51161800-51162200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:51161800-51162200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
7	chr8:51170000-51170800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr8:51172400-51173200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:51172800-51173200	Active TSS	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links