Variant report

Variant	nsv442281
Chromosome Location	chr12:87413383-87426271
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 397 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:397 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73177627	chr12:87413384-87413385	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569349657	chr12:87413455-87413456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375015371	chr12:87413456-87413457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184211671	chr12:87413473-87413474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117866944	chr12:87413501-87413502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571866958	chr12:87413523-87413524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188541876	chr12:87413524-87413525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149082973	chr12:87413533-87413534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144826702	chr12:87413573-87413574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180952109	chr12:87413591-87413592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527845032	chr12:87413592-87413593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577314268	chr12:87413713-87413714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564418916	chr12:87413739-87413740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7959832	chr12:87413746-87413747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7974848	chr12:87413747-87413748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10711800	chr12:87413748-87413749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74828252	chr12:87413775-87413776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546280247	chr12:87413800-87413801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559901509	chr12:87413802-87413803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557193168	chr12:87413804-87413805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528649451	chr12:87413806-87413807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78431513	chr12:87413819-87413820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113694558	chr12:87413823-87413824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs67136611	chr12:87413860-87413861	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs146809949	chr12:87413914-87413915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183896005	chr12:87413922-87413923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4842543	chr12:87413944-87413945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs10666554	chr12:87413951-87413952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs36034322	chr12:87413952-87413953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531987758	chr12:87413983-87413984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140630196	chr12:87414027-87414028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189402850	chr12:87414123-87414124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547951628	chr12:87414156-87414157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534456705	chr12:87414207-87414208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554742510	chr12:87414217-87414218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79719080	chr12:87414290-87414291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182308781	chr12:87414291-87414292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145621136	chr12:87414328-87414329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76416915	chr12:87414340-87414341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187384721	chr12:87414351-87414352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191601865	chr12:87414396-87414397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553432170	chr12:87414437-87414438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552530928	chr12:87414453-87414454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553924207	chr12:87414456-87414457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12301215	chr12:87414468-87414469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs541997779	chr12:87414581-87414582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73408682	chr12:87414608-87414609	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs12308273	chr12:87414656-87414657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs544461199	chr12:87414692-87414693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564453912	chr12:87414747-87414748	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
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
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87398800-87424000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:87414400-87414600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:87414800-87415200	Weak transcription	H9 Cell Line	embryonic stem cell

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