Variant report

Variant	esv3386644
Chromosome Location	chr12:86787521-86789419
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370999362	chr12:86787527-86787528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147331359	chr12:86787551-86787552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541681197	chr12:86787557-86787558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10667700	chr12:86787565-86787566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34116499	chr12:86787566-86787567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs397812125	chr12:86787567-86787568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200915535	chr12:86787568-86787569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184074004	chr12:86787603-86787604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115657912	chr12:86787610-86787611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149887313	chr12:86787649-86787650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548925889	chr12:86787693-86787694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374276635	chr12:86787714-86787715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550649341	chr12:86787757-86787758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527453801	chr12:86787793-86787794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537720337	chr12:86787810-86787811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549693986	chr12:86787896-86787897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571340417	chr12:86787954-86787955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189033461	chr12:86787963-86787964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs28670227	chr12:86788004-86788005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112426989	chr12:86788015-86788016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553586083	chr12:86788030-86788031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572056514	chr12:86788063-86788064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113272390	chr12:86788074-86788075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567434261	chr12:86788092-86788093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148650399	chr12:86788095-86788096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576127692	chr12:86788113-86788114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570956651	chr12:86788165-86788166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60174857	chr12:86788169-86788170	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs572788344	chr12:86788252-86788253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs58573069	chr12:86788268-86788269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs202171752	chr12:86788269-86788270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575278319	chr12:86788274-86788275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536094003	chr12:86788279-86788280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10858423	chr12:86788281-86788282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs146683300	chr12:86788319-86788320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192953229	chr12:86788323-86788324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563512874	chr12:86788324-86788325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560529845	chr12:86788375-86788376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374310310	chr12:86788394-86788395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559838795	chr12:86788395-86788396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548324616	chr12:86788398-86788399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71076194	chr12:86788413-86788414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535415248	chr12:86788418-86788419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543858316	chr12:86788419-86788420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527752448	chr12:86788430-86788431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550193048	chr12:86788484-86788485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184276244	chr12:86788490-86788491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560927112	chr12:86788514-86788515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187066282	chr12:86788578-86788579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568356695	chr12:86788590-86788591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86785200-86789400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr12:86787600-86788000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:86789400-86789600	Enhancers	HUES48 Cell Line	embryonic stem cell

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