Variant report

Variant	nsv438223
Chromosome Location	chr12:84160515-84167483
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10862757	chr12:84160515-84160516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567637176	chr12:84160545-84160546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531625854	chr12:84160554-84160555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550234251	chr12:84160562-84160563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571680565	chr12:84160564-84160565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190904034	chr12:84160580-84160581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553988433	chr12:84160581-84160582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112147676	chr12:84160607-84160608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183477759	chr12:84160649-84160650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536498550	chr12:84160662-84160663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554862772	chr12:84160677-84160678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11116020	chr12:84160683-84160684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs553364628	chr12:84160694-84160695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543084133	chr12:84160697-84160698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558598504	chr12:84160732-84160733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145073988	chr12:84160742-84160743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368934856	chr12:84160792-84160793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112820330	chr12:84160798-84160799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559543732	chr12:84160811-84160812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188485249	chr12:84160821-84160822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79289941	chr12:84160878-84160879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200873113	chr12:84160881-84160882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs398070142	chr12:84160884-84160885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529937192	chr12:84160931-84160932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12368518	chr12:84160944-84160945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs563470598	chr12:84160959-84160960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531712666	chr12:84160973-84160974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192927822	chr12:84160984-84160985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571707838	chr12:84161038-84161039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535090843	chr12:84161061-84161062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532427001	chr12:84161079-84161080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547486852	chr12:84161107-84161108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565905279	chr12:84161210-84161211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183822746	chr12:84161223-84161224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554825806	chr12:84161254-84161255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375906181	chr12:84161256-84161257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570279688	chr12:84161275-84161276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77161984	chr12:84161278-84161279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558308582	chr12:84161358-84161359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576776779	chr12:84161402-84161403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552776819	chr12:84161414-84161415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143746691	chr12:84161421-84161422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553604297	chr12:84161474-84161475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553120340	chr12:84161513-84161514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574671050	chr12:84161522-84161523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542076700	chr12:84161549-84161550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs578185598	chr12:84161618-84161619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556031263	chr12:84161655-84161656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563598316	chr12:84161700-84161701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs17811547	chr12:84161715-84161716	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:67)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84158000-84162600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:84161600-84163400	Enhancers	Fetal Kidney	kidney
3	chr12:84162600-84162800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:84162800-84163400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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