Variant report

Variant	nsv983313
Chromosome Location	chr12:41939228-41941044
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555540442	chr12:41939237-41939238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573875986	chr12:41939286-41939287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11180990	chr12:41939287-41939288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs559671987	chr12:41939289-41939290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147227517	chr12:41939300-41939301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375386269	chr12:41939312-41939313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs67576220	chr12:41939346-41939347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200529300	chr12:41939353-41939354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11180991	chr12:41939354-41939355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186326639	chr12:41939452-41939453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563104523	chr12:41939498-41939499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551563008	chr12:41939530-41939531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373536963	chr12:41939535-41939536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530640941	chr12:41939544-41939545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548759040	chr12:41939545-41939546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561196372	chr12:41939570-41939571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372527499	chr12:41939594-41939595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191577703	chr12:41939596-41939597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79230279	chr12:41939597-41939598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538926756	chr12:41939673-41939674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560104975	chr12:41939685-41939686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534355998	chr12:41939719-41939720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74703677	chr12:41939738-41939739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs80057324	chr12:41939740-41939741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528414286	chr12:41939747-41939748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569109657	chr12:41939752-41939753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536799905	chr12:41939790-41939791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182501940	chr12:41939846-41939847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571751490	chr12:41939847-41939848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375213764	chr12:41939888-41939889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186760360	chr12:41939923-41939924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79788499	chr12:41939929-41939930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs137858492	chr12:41939935-41939936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544936108	chr12:41939951-41939952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113535569	chr12:41939955-41939956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35777404	chr12:41939970-41939971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369106374	chr12:41940040-41940041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575131814	chr12:41940074-41940075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142364297	chr12:41940164-41940165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545692523	chr12:41940165-41940166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144667638	chr12:41940191-41940192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191374717	chr12:41940220-41940221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540441573	chr12:41940222-41940223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115676027	chr12:41940253-41940254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372074447	chr12:41940268-41940269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183130062	chr12:41940270-41940271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546579100	chr12:41940280-41940281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550987632	chr12:41940281-41940282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370414334	chr12:41940284-41940285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138626808	chr12:41940291-41940292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41925600-41949800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:41925800-41944800	Weak transcription	Brain Germinal Matrix	brain

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