Variant report

Variant	esv3404398
Chromosome Location	chr12:41658910-41661458
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372557619	chr12:41658913-41658914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73270816	chr12:41658943-41658944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549657564	chr12:41658957-41658958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190164115	chr12:41658959-41658960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529406920	chr12:41659000-41659001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76272889	chr12:41659001-41659002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566003955	chr12:41659009-41659010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78770925	chr12:41659019-41659020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181543969	chr12:41659053-41659054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569989343	chr12:41659128-41659129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537547469	chr12:41659140-41659141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368484215	chr12:41659172-41659173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555529619	chr12:41659177-41659178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557658182	chr12:41659218-41659219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574097156	chr12:41659219-41659220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535618910	chr12:41659243-41659244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554040388	chr12:41659267-41659268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572358614	chr12:41659283-41659284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575815983	chr12:41659286-41659287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546159907	chr12:41659317-41659318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564107446	chr12:41659327-41659328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185936901	chr12:41659335-41659336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543416819	chr12:41659342-41659343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546412188	chr12:41659361-41659362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397851089	chr12:41659365-41659366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191037756	chr12:41659409-41659410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528976369	chr12:41659428-41659429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531305766	chr12:41659502-41659503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549934840	chr12:41659516-41659517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146181707	chr12:41659559-41659560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73120962	chr12:41659564-41659565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs533433056	chr12:41659579-41659580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139136528	chr12:41659604-41659605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570329191	chr12:41659622-41659623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs5797719	chr12:41659662-41659663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs398098164	chr12:41659668-41659669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183672337	chr12:41659677-41659678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373994291	chr12:41659710-41659711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149899986	chr12:41659712-41659713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567742524	chr12:41659731-41659732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535160893	chr12:41659752-41659753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs961749	chr12:41659770-41659771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs187818509	chr12:41659805-41659806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374843462	chr12:41659828-41659829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201784877	chr12:41659832-41659833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200132633	chr12:41659833-41659834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113953319	chr12:41659835-41659836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539624918	chr12:41659838-41659839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369360903	chr12:41659989-41659990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111365936	chr12:41659990-41659991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41651200-41661000	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:41661000-41661200	Enhancers	Colon Smooth Muscle	Colon
3	chr12:41661200-41668400	Weak transcription	Colon Smooth Muscle	Colon

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