Variant report

Variant	nsv549901
Chromosome Location	chr10:5891344-5892365
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5887234..5889271-chr10:5891738..5894895,3	K562	blood:
2	chr10:5853739..5856663-chr10:5888964..5891448,2	MCF-7	breast:
3	chr10:5889255..5891417-chr10:5903224..5906135,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240180	chromatin interactions
ENSG00000272764	chromatin interactions
ENSG00000057608	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 56 )

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	rs529595308	chr10:5891353-5891354	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs551322581	chr10:5891480-5891481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558117400	chr10:5891581-5891582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376207441	chr10:5891603-5891604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117049467	chr10:5891633-5891634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117355731	chr10:5891634-5891635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138128678	chr10:5891666-5891667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149084332	chr10:5891737-5891738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533908390	chr10:5891879-5891880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555718516	chr10:5891936-5891937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533729675	chr10:5891953-5891954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143151629	chr10:5891984-5891985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573213412	chr10:5892068-5892069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541720314	chr10:5892157-5892158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556880446	chr10:5892182-5892183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554173680	chr10:5892236-5892237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575058240	chr10:5892241-5892242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545979252	chr10:5892347-5892348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5883200-5897000	Enhancers	Primary B cells from peripheral blood	blood
2	chr10:5888600-5894200	Weak transcription	K562	blood
3	chr10:5888800-5904400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:5889000-5894000	Weak transcription	GM12878-XiMat	blood
5	chr10:5889200-5894200	Weak transcription	HepG2	liver
6	chr10:5889200-5900400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr10:5889400-5902000	Weak transcription	Placenta	Placenta
8	chr10:5890200-5896600	Enhancers	Primary B cells from cord blood	blood

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