Variant report

Variant	esv3397207
Chromosome Location	chr10:1841352-1845650
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	chr10:1842245..1844057-chr10:1846999..1848882,2	K562	blood:

Extended variants
information (count: 224 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:224 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576963887	chr10:1841354-1841355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147916114	chr10:1841358-1841359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11250793	chr10:1841381-1841382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs77689053	chr10:1841393-1841394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140074892	chr10:1841395-1841396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562240859	chr10:1841414-1841415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527894089	chr10:1841429-1841430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376435080	chr10:1841430-1841431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547477440	chr10:1841440-1841441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570554973	chr10:1841445-1841446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539589900	chr10:1841465-1841466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549730139	chr10:1841479-1841480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12412246	chr10:1841505-1841506	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs535707306	chr10:1841521-1841522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570306312	chr10:1841530-1841531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145368265	chr10:1841549-1841550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555376372	chr10:1841578-1841579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571869111	chr10:1841625-1841626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534500291	chr10:1841648-1841649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557577523	chr10:1841668-1841669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576902889	chr10:1841673-1841674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570917815	chr10:1841675-1841676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373841804	chr10:1841718-1841719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546012934	chr10:1841737-1841738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562864967	chr10:1841739-1841740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563474270	chr10:1841756-1841757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142110243	chr10:1841769-1841770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374229308	chr10:1841774-1841775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542463906	chr10:1841776-1841777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562380120	chr10:1841821-1841822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61833581	chr10:1841825-1841826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372626940	chr10:1841835-1841836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528034776	chr10:1841852-1841853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79965146	chr10:1841862-1841863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536045119	chr10:1841931-1841932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190958221	chr10:1841990-1841991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555930898	chr10:1842003-1842004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145592210	chr10:1842004-1842005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182074779	chr10:1842018-1842019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549627076	chr10:1842093-1842094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569586671	chr10:1842120-1842121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116553585	chr10:1842123-1842124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548608740	chr10:1842124-1842125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116050521	chr10:1842127-1842128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187883624	chr10:1842162-1842163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557510858	chr10:1842170-1842171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571123205	chr10:1842230-1842231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34527784	chr10:1842261-1842262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369081201	chr10:1842277-1842278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4880922	chr10:1842283-1842284	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:54)

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

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1808600-1853400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:1843000-1843600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:1843200-1843400	Bivalent Enhancer	Fetal Brain Male	brain
4	chr10:1843400-1843600	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
5	chr10:1843600-1843800	Bivalent Enhancer	Fetal Brain Male	brain
6	chr10:1843600-1851400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr10:1843800-1844000	Enhancers	Fetal Brain Male	brain
8	chr10:1844600-1845000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr10:1844600-1845200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr10:1844600-1845200	Enhancers	Dnd41	blood
11	chr10:1844600-1845200	Enhancers	Hela-S3	cervix
12	chr10:1844800-1845400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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