Variant report

Variant	nsv982149
Chromosome Location	chr8:52185110-52191544
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	chr8:52189412..52191198-chr8:52195033..52197163,2	MCF-7	breast:

Extended variants
information (count: 241 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:241 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566645590	chr8:52185152-52185153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534836173	chr8:52185186-52185187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566375419	chr8:52185189-52185190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536900136	chr8:52185192-52185193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182130521	chr8:52185228-52185229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140102074	chr8:52185248-52185249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575871599	chr8:52185265-52185266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543762101	chr8:52185353-52185354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377548850	chr8:52185361-52185362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186862380	chr8:52185364-52185365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543272877	chr8:52185384-52185385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561355756	chr8:52185400-52185401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4873533	chr8:52185407-52185408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs539982502	chr8:52185414-52185415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150032362	chr8:52185558-52185559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532037016	chr8:52185597-52185598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs386725266	chr8:52185637-52185638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115544887	chr8:52185638-52185639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529959194	chr8:52185664-52185665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548443206	chr8:52185703-52185704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377617883	chr8:52185729-52185730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542076702	chr8:52185757-52185758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533966310	chr8:52185759-52185760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368251938	chr8:52185775-52185776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs28672912	chr8:52185874-52185875	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs118108444	chr8:52185912-52185913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539109702	chr8:52185915-52185916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4873190	chr8:52185944-52185945	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs145421048	chr8:52186035-52186036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561742865	chr8:52186043-52186044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547369678	chr8:52186048-52186049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149216929	chr8:52186123-52186124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555238441	chr8:52186140-52186141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190143355	chr8:52186185-52186186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540433640	chr8:52186209-52186210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182789722	chr8:52186220-52186221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532797921	chr8:52186266-52186267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188586756	chr8:52186270-52186271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562373306	chr8:52186283-52186284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374429481	chr8:52186290-52186291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs117659887	chr8:52186291-52186292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548896714	chr8:52186311-52186312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570304191	chr8:52186355-52186356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527539412	chr8:52186384-52186385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552426243	chr8:52186386-52186387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192979123	chr8:52186479-52186480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372500863	chr8:52186500-52186501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs117359657	chr8:52186503-52186504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569432540	chr8:52186573-52186574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551030055	chr8:52186580-52186581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52180400-52189400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:52184200-52197800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:52185600-52188600	Enhancers	Primary B cells from peripheral blood	blood
4	chr8:52185800-52188400	Enhancers	GM12878-XiMat	blood
5	chr8:52186200-52186600	Enhancers	Spleen	Spleen
6	chr8:52188000-52191200	Enhancers	Fetal Brain Male	brain
7	chr8:52188200-52188400	Enhancers	Spleen	Spleen
8	chr8:52188200-52191200	Enhancers	Brain Germinal Matrix	brain
9	chr8:52188800-52191200	Enhancers	Fetal Brain Female	brain
10	chr8:52189200-52190800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr8:52189400-52189600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:52189400-52190200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:52189400-52190400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:52189400-52190400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:52189600-52189800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:52190200-52193800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:52190400-52191400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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