Variant report

Variant	nsv976753
Chromosome Location	chr12:86968778-86977669
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4508266	chr12:86976237-86976238	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113410775	chr12:86976268-86976269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550527630	chr12:86976304-86976305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563858892	chr12:86976316-86976317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs386764976	chr12:86976322-86976323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187705020	chr12:86976324-86976325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149974754	chr12:86976406-86976407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6144794	chr12:86976418-86976419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374921803	chr12:86976419-86976420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556799503	chr12:86976438-86976439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534809531	chr12:86976509-86976510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546662335	chr12:86976517-86976518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568521204	chr12:86976566-86976567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535516319	chr12:86976568-86976569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557315088	chr12:86976571-86976572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575495986	chr12:86976586-86976587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562497767	chr12:86977138-86977139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531122350	chr12:86977178-86977179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147670255	chr12:86977259-86977260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560652767	chr12:86977282-86977283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs117242311	chr12:86977334-86977335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4374001	chr12:86977367-86977368	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs371226369	chr12:86977371-86977372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115329743	chr12:86977378-86977379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568501991	chr12:86977385-86977386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529386591	chr12:86977398-86977399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4508267	chr12:86977399-86977400	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs4359271	chr12:86977440-86977441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs539759875	chr12:86977507-86977508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75124229	chr12:86977511-86977512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550643552	chr12:86977523-86977524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566750413	chr12:86977534-86977535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534011061	chr12:86977568-86977569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555526159	chr12:86977634-86977635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86976200-86976600	Enhancers	Fetal Brain Male	brain
2	chr12:86977000-86977400	Enhancers	Adipose Nuclei	Adipose
3	chr12:86977400-86978400	Weak transcription	Adipose Nuclei	Adipose

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