Variant report

Variant	nsv53451
Chromosome Location	chr12:84746399-84753346
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 202 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:202 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7314264	chr12:84747814-84747815	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192964524	chr12:84747827-84747828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184823906	chr12:84747852-84747853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147778306	chr12:84747883-84747884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529291107	chr12:84747897-84747898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544465286	chr12:84747949-84747950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7294530	chr12:84747953-84747954	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs145726009	chr12:84747956-84747957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376510335	chr12:84747958-84747959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370106533	chr12:84747986-84747987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533544750	chr12:84747991-84747992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140086318	chr12:84747996-84747997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567088461	chr12:84748013-84748014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs117017999	chr12:84748143-84748144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549148059	chr12:84748149-84748150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150326846	chr12:84748172-84748173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570877747	chr12:84748205-84748206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537849239	chr12:84748215-84748216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9668274	chr12:84748216-84748217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs571472750	chr12:84748249-84748250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375743768	chr12:84748263-84748264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555638440	chr12:84748273-84748274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191417753	chr12:84748303-84748304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572231576	chr12:84748337-84748338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12300213	chr12:84748342-84748343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs144924171	chr12:84748366-84748367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573653374	chr12:84748393-84748394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183788466	chr12:84748403-84748404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563163221	chr12:84748406-84748407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149092066	chr12:84748417-84748418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545712424	chr12:84748428-84748429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144742776	chr12:84748515-84748516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527927011	chr12:84748535-84748536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549058139	chr12:84748548-84748549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138658499	chr12:84748586-84748587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531304586	chr12:84748595-84748596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs118063165	chr12:84748662-84748663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4882505	chr12:84748700-84748701	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs538532311	chr12:84748725-84748726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550384795	chr12:84748734-84748735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565499946	chr12:84748739-84748740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536042742	chr12:84748743-84748744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141880971	chr12:84748788-84748789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573814364	chr12:84748807-84748808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371623417	chr12:84748846-84748847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145558502	chr12:84748877-84748878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556262484	chr12:84748905-84748906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs578006600	chr12:84748906-84748907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545368959	chr12:84748980-84748981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74108108	chr12:84748993-84748994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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	chr12:84747800-84748200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:84748200-84752200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:84752200-84752600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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