Variant report

Variant	nsv824623
Chromosome Location	chr8:50524103-50529329
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	chr8:50521960..50524416-chr8:50526468..50529383,2	MCF-7	breast:
2	chr8:50521960..50524416-chr8:50526468..50529383,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114742106	chr8:50524148-50524149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535681268	chr8:50524152-50524153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6472554	chr8:50524158-50524159	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs371892075	chr8:50524215-50524216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527595221	chr8:50524254-50524255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539907486	chr8:50524306-50524307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114349567	chr8:50524324-50524325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188226994	chr8:50524355-50524356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566163783	chr8:50524379-50524380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114280807	chr8:50524382-50524383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574632608	chr8:50524399-50524400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145105433	chr8:50524464-50524465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192799325	chr8:50524493-50524494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559884157	chr8:50524540-50524541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527470035	chr8:50524593-50524594	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
Lung cancer	18438408	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
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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50524000-50524600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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