Variant report

Variant	nsv976035
Chromosome Location	chr12:84648316-84656408
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190869602	chr12:84653808-84653809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559050446	chr12:84653810-84653811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529617085	chr12:84653823-84653824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547800749	chr12:84653899-84653900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569575781	chr12:84653900-84653901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114106864	chr12:84653942-84653943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552232756	chr12:84653972-84653973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145835730	chr12:84653975-84653976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543056722	chr12:84654000-84654001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534547740	chr12:84654040-84654041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12581030	chr12:84654043-84654044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs34227250	chr12:84654071-84654072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs536613775	chr12:84654075-84654076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555011841	chr12:84654134-84654135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12319014	chr12:84654150-84654151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs544086578	chr12:84654155-84654156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201964225	chr12:84654165-84654166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74201808	chr12:84654169-84654170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529089970	chr12:84654173-84654174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12320466	chr12:84654175-84654176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577346379	chr12:84654177-84654178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376419352	chr12:84654191-84654192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541131820	chr12:84654193-84654194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200194120	chr12:84654194-84654195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201393045	chr12:84654203-84654204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200698352	chr12:84654206-84654207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541289110	chr12:84654273-84654274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183378093	chr12:84654324-84654325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529751384	chr12:84654362-84654363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541380039	chr12:84654364-84654365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11116276	chr12:84654387-84654388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs530462760	chr12:84654413-84654414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11116277	chr12:84654415-84654416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs570680598	chr12:84654419-84654420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186638011	chr12:84654420-84654421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528261387	chr12:84654423-84654424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546831930	chr12:84654428-84654429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11116278	chr12:84654460-84654461	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs536747013	chr12:84654465-84654466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371232890	chr12:84654473-84654474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555142636	chr12:84654494-84654495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553400150	chr12:84654497-84654498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs67161882	chr12:84654498-84654499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs386377195	chr12:84654503-84654504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs59324636	chr12:84654506-84654507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566290552	chr12:84654519-84654520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7138046	chr12:84654521-84654522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs537078854	chr12:84654525-84654526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559176603	chr12:84654532-84654533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148163280	chr12:84654549-84654550	Weak transcription	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84653800-84654000	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr12:84654000-84655000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:84655000-84655800	Enhancers	Pancreatic Islets	Pancreatic Islet

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