Variant report

Variant	esv3323550
Chromosome Location	chr10:18408346-18412744
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 155 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181724677	chr10:18408640-18408641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532997981	chr10:18408647-18408648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544802716	chr10:18408662-18408663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185353556	chr10:18408664-18408665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530507908	chr10:18408689-18408690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs60638967	chr10:18408757-18408758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549030594	chr10:18408761-18408762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116145277	chr10:18408763-18408764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528046736	chr10:18408814-18408815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574065798	chr10:18408832-18408833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571961224	chr10:18408864-18408865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147379726	chr10:18408865-18408866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372437816	chr10:18408866-18408867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10828253	chr10:18408883-18408884	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs375699334	chr10:18408932-18408933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190133437	chr10:18408939-18408940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11012743	chr10:18408949-18408950	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs536367658	chr10:18409033-18409034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554999082	chr10:18409047-18409048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573164054	chr10:18409101-18409102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10828254	chr10:18409137-18409138	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs117142117	chr10:18409141-18409142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181754650	chr10:18409144-18409145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186535434	chr10:18409158-18409159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35600537	chr10:18409159-18409160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563355049	chr10:18409200-18409201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201688976	chr10:18409840-18409841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs80255112	chr10:18409845-18409846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375635157	chr10:18409897-18409898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557014947	chr10:18409945-18409946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113600505	chr10:18409954-18409955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536086071	chr10:18409963-18409964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11814616	chr10:18409966-18409967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573045497	chr10:18410015-18410016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116756920	chr10:18410028-18410029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112886479	chr10:18410038-18410039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185133186	chr10:18410071-18410072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140275190	chr10:18410075-18410076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145262711	chr10:18410081-18410082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563066536	chr10:18410092-18410093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111573024	chr10:18410114-18410115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530402578	chr10:18410120-18410121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs137880590	chr10:18410121-18410122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571923236	chr10:18410141-18410142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191114859	chr10:18410156-18410157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7478172	chr10:18410168-18410169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs552263669	chr10:18410178-18410179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34909585	chr10:18410189-18410190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35900015	chr10:18410191-18410192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs537900245	chr10:18410204-18410205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

Disease	PMID	Source
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
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
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	19287155	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18408600-18409200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr10:18409800-18412600	Weak transcription	Fetal Heart	heart
3	chr10:18410400-18410600	Bivalent Enhancer	Fetal Kidney	kidney
4	chr10:18410600-18410800	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
5	chr10:18412600-18413200	Enhancers	Fetal Heart	heart

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