Variant report

Variant	esv3514977
Chromosome Location	chr10:764029-764437
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	chr10:762176..765127-chr10:765238..767512,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553378877	chr10:764031-764032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577450023	chr10:764038-764039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71482849	chr10:764055-764056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113573915	chr10:764088-764089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551493715	chr10:764105-764106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575815	chr10:764109-764110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112022887	chr10:764118-764119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113218884	chr10:764134-764135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7095323	chr10:764139-764140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7068068	chr10:764141-764142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71489280	chr10:764158-764159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563091756	chr10:764192-764193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12784894	chr10:764195-764196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12774276	chr10:764197-764198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12774423	chr10:764204-764205	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs542450315	chr10:764215-764216	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs562131990	chr10:764222-764223	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs113547122	chr10:764228-764229	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs377022660	chr10:764265-764266	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs7068230	chr10:764274-764275	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs113849340	chr10:764298-764299	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs577600	chr10:764318-764319	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs570794584	chr10:764319-764320	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs111972750	chr10:764335-764336	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs112887003	chr10:764337-764338	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs111448780	chr10:764344-764345	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs558760653	chr10:764356-764357	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs111645499	chr10:764360-764361	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs185392986	chr10:764361-764362	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs552236525	chr10:764378-764379	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs78997110	chr10:764388-764389	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs76798902	chr10:764397-764398	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs117506723	chr10:764418-764419	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs71486235	chr10:764420-764421	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	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
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
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:761000-768200	Weak transcription	Placenta	Placenta
2	chr10:761000-768400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:764200-764400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
4	chr10:764200-764600	Bivalent Enhancer	HepG2	liver

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