Variant report

Variant	esv3334718
Chromosome Location	chr10:1455483-1455918
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	chr10:1448874..1450654-chr10:1453842..1455839,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371911898	chr10:1455520-1455521	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs572021116	chr10:1455523-1455524	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs529275338	chr10:1455539-1455540	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs2255595	chr10:1455543-1455544	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs576337241	chr10:1455544-1455545	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs540580980	chr10:1455545-1455546	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs113674938	chr10:1455552-1455553	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs572025946	chr10:1455609-1455610	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs541155955	chr10:1455631-1455632	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs564118482	chr10:1455661-1455662	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs112696988	chr10:1455695-1455696	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs528377961	chr10:1455725-1455726	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs543647672	chr10:1455737-1455738	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs1806447	chr10:1455766-1455767	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs529222639	chr10:1455771-1455772	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs141700615	chr10:1455777-1455778	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs1806446	chr10:1455810-1455811	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs145577727	chr10:1455811-1455812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371798128	chr10:1455816-1455817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547915262	chr10:1455829-1455830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536786296	chr10:1455870-1455871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111560954	chr10:1455872-1455873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566947627	chr10:1455892-1455893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1443600-1456000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:1451800-1461600	Weak transcription	Gastric	stomach
3	chr10:1454000-1456000	Enhancers	Primary B cells from cord blood	blood
4	chr10:1454800-1455600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:1455200-1455800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr10:1455400-1459000	Weak transcription	Dnd41	blood
7	chr10:1455600-1459800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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