Variant report

Variant	nsv559698
Chromosome Location	chr12:87435308-87479405
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 538 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:538 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12311381	chr12:87435308-87435309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543645377	chr12:87435319-87435320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541834748	chr12:87435322-87435323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563954984	chr12:87435339-87435340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73179835	chr12:87435340-87435341	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs189748403	chr12:87435365-87435366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564507462	chr12:87435374-87435375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527314162	chr12:87435396-87435397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540651520	chr12:87435415-87435416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77323470	chr12:87435438-87435439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529835442	chr12:87435549-87435550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11104248	chr12:87435557-87435558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549704746	chr12:87435607-87435608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536110491	chr12:87435614-87435615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148789974	chr12:87435621-87435622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552514682	chr12:87435630-87435631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373188355	chr12:87435672-87435673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566050621	chr12:87435726-87435727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182093820	chr12:87435743-87435744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73179837	chr12:87435772-87435773	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs536009573	chr12:87435774-87435775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142459772	chr12:87435788-87435789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186581265	chr12:87435832-87435833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549646076	chr12:87435877-87435878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11104249	chr12:87435935-87435936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs559077500	chr12:87435950-87435951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs151289817	chr12:87436014-87436015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577386918	chr12:87436043-87436044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73400125	chr12:87436073-87436074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs553233378	chr12:87436082-87436083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs67434072	chr12:87436087-87436088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs78049470	chr12:87436107-87436108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560983846	chr12:87436117-87436118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200313819	chr12:87436149-87436150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529707570	chr12:87436159-87436160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140547506	chr12:87436231-87436232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs193288177	chr12:87436244-87436245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377237480	chr12:87436248-87436249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375757050	chr12:87436318-87436319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370785339	chr12:87436357-87436358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532358491	chr12:87436436-87436437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185522531	chr12:87436451-87436452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370472615	chr12:87436472-87436473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112156483	chr12:87436477-87436478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556788522	chr12:87436478-87436479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188850122	chr12:87436488-87436489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149112235	chr12:87436535-87436536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150469459	chr12:87436569-87436570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575084474	chr12:87436572-87436573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547202848	chr12:87441833-87441834	Enhancers	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87435200-87436600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:87441800-87442000	Enhancers	Fetal Brain Male	brain
3	chr12:87442000-87448400	Weak transcription	Fetal Brain Male	brain
4	chr12:87445000-87445800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:87445200-87446200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:87445400-87445800	Enhancers	A549	lung
7	chr12:87446200-87448000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:87447800-87448600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:87448000-87448600	Enhancers	Fetal Brain Female	brain
10	chr12:87448000-87448800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:87448400-87449200	Enhancers	Fetal Brain Male	brain
12	chr12:87448600-87452000	Weak transcription	Fetal Brain Female	brain
13	chr12:87449200-87452400	Weak transcription	Fetal Brain Male	brain
14	chr12:87452000-87453600	Enhancers	Fetal Brain Female	brain
15	chr12:87452400-87452800	Enhancers	Fetal Brain Male	brain
16	chr12:87459200-87460400	Enhancers	Fetal Lung	lung
17	chr12:87468800-87469800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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