Variant report

Variant	esv2529439
Chromosome Location	chr12:86695010-86703868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527751075	chr12:86695025-86695026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35864095	chr12:86695028-86695029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549067030	chr12:86695038-86695039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560148862	chr12:86695096-86695097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9919793	chr12:86695111-86695112	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs537889251	chr12:86695120-86695121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550043882	chr12:86695128-86695129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571476717	chr12:86695148-86695149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369770199	chr12:86695168-86695169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191410231	chr12:86695174-86695175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553648739	chr12:86695196-86695197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73385208	chr12:86695207-86695208	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs373535704	chr12:86695370-86695371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12316205	chr12:86695406-86695407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs146154952	chr12:86695445-86695446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35859238	chr12:86695459-86695460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564657930	chr12:86695515-86695516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576101250	chr12:86695530-86695531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138995356	chr12:86695601-86695602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77992512	chr12:86695639-86695640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs578212721	chr12:86695641-86695642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143858122	chr12:86695664-86695665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560264641	chr12:86695686-86695687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371431760	chr12:86695695-86695696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7967367	chr12:86695709-86695710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs17013893	chr12:86695712-86695713	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs547265383	chr12:86695740-86695741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561092395	chr12:86695820-86695821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183613616	chr12:86695848-86695849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199603195	chr12:86696009-86696010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549938372	chr12:86696022-86696023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565582454	chr12:86696043-86696044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571628256	chr12:86696157-86696158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71076182	chr12:86696176-86696177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71766886	chr12:86696178-86696179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567043127	chr12:86696179-86696180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71779222	chr12:86696181-86696182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569242026	chr12:86696182-86696183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115630407	chr12:86696183-86696184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112184668	chr12:86696197-86696198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375890434	chr12:86696202-86696203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553996024	chr12:86696225-86696226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79850728	chr12:86696284-86696285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558237392	chr12:86696293-86696294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565840701	chr12:86696355-86696356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113695014	chr12:86696358-86696359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78631810	chr12:86696362-86696363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10858410	chr12:86696482-86696483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537035534	chr12:86696483-86696484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558234790	chr12:86696496-86696497	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
Malignant peripheral nerve sheath tumor	18522746	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
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86690600-86698200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:86694800-86695400	Enhancers	Fetal Lung	lung

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