Variant report

Variant	esv3321307
Chromosome Location	chr10:1842385-1842960
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: 42 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529030303	chr10:1842390-1842391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190973825	chr10:1842391-1842392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112107209	chr10:1842428-1842429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149963822	chr10:1842467-1842468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369997241	chr10:1842468-1842469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565368436	chr10:1842477-1842478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528332568	chr10:1842478-1842479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71379165	chr10:1842484-1842485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113798643	chr10:1842510-1842511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551282949	chr10:1842511-1842512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571372368	chr10:1842515-1842516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56153629	chr10:1842532-1842533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199918024	chr10:1842539-1842540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536865224	chr10:1842540-1842541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4880924	chr10:1842590-1842591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557162260	chr10:1842594-1842595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs55989870	chr10:1842609-1842610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546237011	chr10:1842629-1842630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72446380	chr10:1842630-1842631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4309082	chr10:1842635-1842636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs386370456	chr10:1842644-1842645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10903560	chr10:1842670-1842671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570052406	chr10:1842691-1842692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11817892	chr10:1842699-1842700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs542400085	chr10:1842700-1842701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373870099	chr10:1842723-1842724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113718459	chr10:1842750-1842751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79296515	chr10:1842759-1842760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112789458	chr10:1842766-1842767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572490051	chr10:1842779-1842780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200361060	chr10:1842790-1842791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201437708	chr10:1842791-1842792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34274849	chr10:1842808-1842809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35970210	chr10:1842809-1842810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200868759	chr10:1842818-1842819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140989972	chr10:1842837-1842838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558496894	chr10:1842887-1842888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs578224998	chr10:1842902-1842903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557608729	chr10:1842909-1842910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7082568	chr10:1842922-1842923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs563934823	chr10:1842931-1842932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371654836	chr10:1842948-1842949	Weak transcription	n/a	n/a	Overlapped CNVs	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:1 , 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

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