Variant report

Variant	nsv521917
Chromosome Location	chr12:42010719-42013167
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs287042	chr12:42010719-42010720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553147098	chr12:42010725-42010726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577744902	chr12:42010733-42010734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189622329	chr12:42010769-42010770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574152876	chr12:42010781-42010782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74078240	chr12:42010782-42010783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs78747185	chr12:42010839-42010840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147097247	chr12:42010840-42010841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367871202	chr12:42010853-42010854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61940385	chr12:42010863-42010864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs147723543	chr12:42010959-42010960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577685172	chr12:42010986-42010987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528211734	chr12:42011010-42011011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12302175	chr12:42011015-42011016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs34628497	chr12:42011030-42011031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571839647	chr12:42011098-42011099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532597151	chr12:42011100-42011101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377424890	chr12:42011135-42011136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563172083	chr12:42011155-42011156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181551621	chr12:42011158-42011159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75502138	chr12:42011210-42011211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142612300	chr12:42011386-42011387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28667009	chr12:42011448-42011449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537145267	chr12:42011469-42011470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554562275	chr12:42011599-42011600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34508571	chr12:42011695-42011696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs386376279	chr12:42011696-42011697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs386376280	chr12:42011700-42011701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs386376281	chr12:42011702-42011703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71081762	chr12:42011706-42011707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113440433	chr12:42011787-42011788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371825001	chr12:42011791-42011792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566493805	chr12:42011808-42011809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186210511	chr12:42011839-42011840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558759946	chr12:42011855-42011856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191691333	chr12:42011872-42011873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544867256	chr12:42011883-42011884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557152722	chr12:42011886-42011887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575632655	chr12:42011890-42011891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12322609	chr12:42011948-42011949	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs560902587	chr12:42011982-42011983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560967709	chr12:42011993-42011994	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42000600-42012000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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