Variant report

Variant	esv2452886
Chromosome Location	chr12:40103627-40107201
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 253 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145957029	chr12:40104016-40104017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190523490	chr12:40104018-40104019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568058315	chr12:40104021-40104022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535133725	chr12:40104053-40104054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116861197	chr12:40104056-40104057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553799516	chr12:40104058-40104059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371826582	chr12:40104077-40104078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545901226	chr12:40104087-40104088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564292511	chr12:40104117-40104118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557617381	chr12:40104139-40104140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74086453	chr12:40104165-40104166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139821664	chr12:40104245-40104246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575811980	chr12:40104249-40104250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561975044	chr12:40104262-40104263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145052631	chr12:40104264-40104265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374979850	chr12:40104266-40104267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182361061	chr12:40104272-40104273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547432136	chr12:40104285-40104286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535849457	chr12:40104287-40104288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79778890	chr12:40104306-40104307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533282853	chr12:40104308-40104309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376555032	chr12:40104339-40104340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540144895	chr12:40104354-40104355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557882160	chr12:40104362-40104363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551428013	chr12:40104387-40104388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76580038	chr12:40104409-40104410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186138014	chr12:40104438-40104439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11834401	chr12:40104460-40104461	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs189724536	chr12:40104464-40104465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35797439	chr12:40104492-40104493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77075850	chr12:40104517-40104518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141090721	chr12:40104519-40104520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572038761	chr12:40104580-40104581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375918876	chr12:40104656-40104657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573959685	chr12:40104661-40104662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs180698355	chr12:40104671-40104672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs61448501	chr12:40104672-40104673	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs149836674	chr12:40104689-40104690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11173248	chr12:40104704-40104705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561728079	chr12:40104709-40104710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573905475	chr12:40104720-40104721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540909912	chr12:40104735-40104736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185530337	chr12:40104736-40104737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74814620	chr12:40104780-40104781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145812964	chr12:40104781-40104782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551464273	chr12:40104793-40104794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141700198	chr12:40104811-40104812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189987646	chr12:40104842-40104843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34458127	chr12:40104844-40104845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549583089	chr12:40104861-40104862	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40104000-40105400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:40106400-40107400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr12:40106400-40108000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr12:40107200-40108400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links