Variant report

Variant	nsv971592
Chromosome Location	chr8:50873330-50874778
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	chr8:50861606..50863840-chr8:50871624..50874600,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572749929	chr8:50873340-50873341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540241709	chr8:50873347-50873348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147942502	chr8:50873349-50873350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs193250750	chr8:50873360-50873361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532240098	chr8:50873367-50873368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2860009	chr8:50873406-50873407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185718198	chr8:50873410-50873411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562690710	chr8:50873442-50873443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529866080	chr8:50873456-50873457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189302401	chr8:50873482-50873483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141740123	chr8:50873525-50873526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs180901085	chr8:50873537-50873538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10441571	chr8:50873608-50873609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147116303	chr8:50873647-50873648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571355460	chr8:50873718-50873719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6988557	chr8:50873729-50873730	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs573620442	chr8:50873759-50873760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs67415969	chr8:50873843-50873844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs374023650	chr8:50873849-50873850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569404360	chr8:50873856-50873857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs67856006	chr8:50873860-50873861	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs185603773	chr8:50873895-50873896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368161717	chr8:50873932-50873933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188749970	chr8:50873952-50873953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540971800	chr8:50873963-50873964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573096991	chr8:50874052-50874053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558563625	chr8:50874071-50874072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539867976	chr8:50874117-50874118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545333010	chr8:50874125-50874126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10441546	chr8:50874135-50874136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544263538	chr8:50874151-50874152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565367894	chr8:50874168-50874169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565219723	chr8:50874172-50874173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181377296	chr8:50874184-50874185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541669335	chr8:50874185-50874186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560336486	chr8:50874188-50874189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544272071	chr8:50874191-50874192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs318893	chr8:50874200-50874201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs552081741	chr8:50874217-50874218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571273218	chr8:50874279-50874280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13266609	chr8:50874280-50874281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs16914099	chr8:50874313-50874314	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs551486607	chr8:50874341-50874342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561444880	chr8:50874465-50874466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530094062	chr8:50874475-50874476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114619700	chr8:50874479-50874480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548491438	chr8:50874505-50874506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567095131	chr8:50874514-50874515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs318894	chr8:50874522-50874523	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs76624640	chr8:50874540-50874541	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
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50855200-50875200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:50860400-50875400	Weak transcription	Fetal Intestine Small	intestine
3	chr8:50869800-50875000	Weak transcription	Fetal Brain Male	brain
4	chr8:50870200-50875400	Weak transcription	Fetal Lung	lung
5	chr8:50870400-50875400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:50870400-50875600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:50871000-50874600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:50872800-50875400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:50873200-50873400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr8:50873200-50873400	Enhancers	Brain Germinal Matrix	brain
11	chr8:50873400-50874400	Weak transcription	Brain Germinal Matrix	brain
12	chr8:50874400-50874800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr8:50874400-50876200	Enhancers	Brain Germinal Matrix	brain
14	chr8:50874600-50874800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:50874600-50875600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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