Variant report

Variant	esv2488240
Chromosome Location	chr10:16220574-16222080
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138798697	chr10:16220580-16220581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553937954	chr10:16220592-16220593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143041740	chr10:16220610-16220611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11253841	chr10:16220656-16220657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs564184562	chr10:16220680-16220681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6602081	chr10:16220698-16220699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs543741403	chr10:16220702-16220703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7924146	chr10:16220774-16220775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs550427765	chr10:16220775-16220776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529437578	chr10:16220813-16220814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547986542	chr10:16220817-16220818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1934641	chr10:16220828-16220829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs527385686	chr10:16220829-16220830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552201332	chr10:16220844-16220845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570493806	chr10:16220852-16220853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74124947	chr10:16220853-16220854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs556465398	chr10:16220857-16220858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76678636	chr10:16220871-16220872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535254218	chr10:16220988-16220989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553934867	chr10:16221012-16221013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73598849	chr10:16221046-16221047	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs147031994	chr10:16221061-16221062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74124948	chr10:16221096-16221097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs118124010	chr10:16221107-16221108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562010645	chr10:16221112-16221113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574288108	chr10:16221115-16221116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541222153	chr10:16221122-16221123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559945092	chr10:16221127-16221128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180790632	chr10:16221129-16221130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74124949	chr10:16221138-16221139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553193071	chr10:16221207-16221208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375981749	chr10:16221252-16221253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531295734	chr10:16221306-16221307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549810164	chr10:16221307-16221308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186125220	chr10:16221336-16221337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574842794	chr10:16221338-16221339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138221499	chr10:16221342-16221343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535787769	chr10:16221373-16221374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192279952	chr10:16221406-16221407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565899939	chr10:16221456-16221457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539526165	chr10:16221475-16221476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557804272	chr10:16221489-16221490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576145088	chr10:16221515-16221516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537008330	chr10:16221530-16221531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557658727	chr10:16221535-16221536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559524953	chr10:16221553-16221554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555347963	chr10:16221560-16221561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9787585	chr10:16221561-16221562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs183890802	chr10:16221563-16221564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552069634	chr10:16221565-16221566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Renal cell carcinoma	18765545	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
DiGeorge-Velo cardiofacial	22470819	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
Adrenocortical carcinoma	18281524	CNVD
Digeorge syndrome	17576883	CNVD
Lung cancer	16773561	CNVD
Velocardiofacial syndrome	17576883	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Hepatocellular carcinoma	16750200	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Thymic lymphomas tumor	22700994	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:16217400-16239000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:16220200-16223800	Weak transcription	NHDF-Ad	bronchial

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