Variant report

Variant	nsv983444
Chromosome Location	chr12:84506847-84513538
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190690866	chr12:84510418-84510419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75625920	chr12:84510437-84510438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541720332	chr12:84510467-84510468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532618564	chr12:84510486-84510487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551218411	chr12:84510490-84510491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560978205	chr12:84510507-84510508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531584232	chr12:84510525-84510526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17759334	chr12:84510561-84510562	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs536578610	chr12:84510591-84510592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182245576	chr12:84510602-84510603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143363421	chr12:84510612-84510613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184445957	chr12:84510620-84510621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189255872	chr12:84510622-84510623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555234161	chr12:84510630-84510631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536999010	chr12:84510634-84510635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181229159	chr12:84510638-84510639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375560199	chr12:84510695-84510696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569703021	chr12:84510716-84510717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185717556	chr12:84510737-84510738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558541812	chr12:84510749-84510750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567197134	chr12:84510850-84510851	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs576882644	chr12:84510870-84510871	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs534410618	chr12:84510887-84510888	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs63147562	chr12:84510904-84510905	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs147768945	chr12:84510906-84510907	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs63625164	chr12:84510929-84510930	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs2403188	chr12:84510931-84510932	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs201541914	chr12:84510933-84510934	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs553181929	chr12:84510960-84510961	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs574526910	chr12:84510971-84510972	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs146286301	chr12:84510986-84510987	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs552509721	chr12:84511071-84511072	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs556855851	chr12:84511077-84511078	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs139384261	chr12:84511088-84511089	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs190672204	chr12:84511092-84511093	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs535741424	chr12:84511108-84511109	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs7978008	chr12:84511125-84511126	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs572021693	chr12:84511141-84511142	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs180974923	chr12:84511175-84511176	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs373361186	chr12:84511201-84511202	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs541162713	chr12:84511214-84511215	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs377367459	chr12:84511247-84511248	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs559922829	chr12:84511276-84511277	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs530300991	chr12:84511293-84511294	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs11116218	chr12:84511302-84511303	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs149991763	chr12:84511318-84511319	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs531189254	chr12:84511374-84511375	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84510400-84510800	Enhancers	A549	lung
2	chr12:84510800-84511000	Active TSS	A549	lung
3	chr12:84511000-84511200	Flanking Active TSS	A549	lung
4	chr12:84511200-84511400	Active TSS	A549	lung

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