Variant report

Variant	nsv522657
Chromosome Location	chr12:42224300-42226876
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17090734	chr12:42224300-42224301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189231003	chr12:42224321-42224322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191768331	chr12:42224335-42224336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12320472	chr12:42224341-42224342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs2453957	chr12:42224347-42224348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2453956	chr12:42224362-42224363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2453955	chr12:42224389-42224390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139709278	chr12:42224436-42224437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12307439	chr12:42224441-42224442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12307440	chr12:42224443-42224444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145918622	chr12:42224445-42224446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71081788	chr12:42224474-42224475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563644323	chr12:42224503-42224504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149775518	chr12:42224542-42224543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546406094	chr12:42224611-42224612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200203799	chr12:42224623-42224624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78477199	chr12:42224639-42224640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545484730	chr12:42224659-42224660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71453321	chr12:42224664-42224665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184272994	chr12:42224670-42224671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75050280	chr12:42224692-42224693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10880170	chr12:42224790-42224791	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs529974621	chr12:42224866-42224867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79742200	chr12:42224900-42224901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146807544	chr12:42224951-42224952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201386581	chr12:42224959-42224960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527488016	chr12:42224960-42224961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550208464	chr12:42224993-42224994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545474201	chr12:42224994-42224995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570171627	chr12:42225010-42225011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115418984	chr12:42225018-42225019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73128126	chr12:42225031-42225032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs189387441	chr12:42225072-42225073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568728766	chr12:42225105-42225106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34988968	chr12:42225163-42225164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139623231	chr12:42225169-42225170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144357537	chr12:42225182-42225183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572745648	chr12:42225211-42225212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114570130	chr12:42225229-42225230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146618533	chr12:42225237-42225238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180731541	chr12:42225242-42225243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576561743	chr12:42225279-42225280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543957012	chr12:42225343-42225344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562242464	chr12:42225399-42225400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529248755	chr12:42225422-42225423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541459977	chr12:42225423-42225424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560175650	chr12:42225456-42225457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs36047216	chr12:42225517-42225518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112381963	chr12:42225570-42225571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs58347456	chr12:42225576-42225577	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:59)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42208800-42231000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:42218600-42257000	Weak transcription	Aorta	Aorta
3	chr12:42226400-42227000	Enhancers	Fetal Intestine Small	intestine

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