Variant report

Variant	nsv525960
Chromosome Location	chr10:4757822-4758118
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:4755976..4758860-chr10:4759457..4761434,2	K562	blood:
2	chr10:4704812..4707104-chr10:4757845..4760690,2	MCF-7	breast:
3	chr10:4755644..4758600-chr10:4771458..4775499,3	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10904326	chr10:4757822-4757823	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562740676	chr10:4757833-4757834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139340621	chr10:4757850-4757851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs202186242	chr10:4757856-4757857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576348134	chr10:4757891-4757892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117173652	chr10:4757896-4757897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116211633	chr10:4757982-4757983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111492864	chr10:4757996-4757997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150038089	chr10:4758013-4758014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367932182	chr10:4758018-4758019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559821071	chr10:4758019-4758020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527430996	chr10:4758033-4758034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144922385	chr10:4758037-4758038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560975532	chr10:4758045-4758046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543618461	chr10:4758063-4758064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531184432	chr10:4758097-4758098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550118265	chr10:4758111-4758112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs17133449	chr10:4758118-4758119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:54)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4743400-4758400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:4746800-4762800	Weak transcription	NHLF	lung
3	chr10:4749200-4769400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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