Variant report

Variant	esv3394680
Chromosome Location	chr12:41068485-41070383
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:41058052..41059920-chr12:41067347..41069015,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575180917	chr12:41068485-41068486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545662150	chr12:41068488-41068489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371907342	chr12:41068506-41068507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139538675	chr12:41068575-41068576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115373717	chr12:41068599-41068600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141708268	chr12:41068601-41068602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551295022	chr12:41068636-41068637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569445913	chr12:41068649-41068650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536853516	chr12:41068685-41068686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7311914	chr12:41068707-41068708	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs573796036	chr12:41068708-41068709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540016841	chr12:41068739-41068740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192813733	chr12:41068782-41068783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150560646	chr12:41068808-41068809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577747669	chr12:41068823-41068824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139572975	chr12:41068835-41068836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557270600	chr12:41068876-41068877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79585929	chr12:41068902-41068903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556069422	chr12:41068906-41068907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73108955	chr12:41068907-41068908	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs189105491	chr12:41068915-41068916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528588576	chr12:41068944-41068945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181102206	chr12:41068946-41068947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115857828	chr12:41068974-41068975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376913759	chr12:41068989-41068990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185598191	chr12:41069000-41069001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188009095	chr12:41069149-41069150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs180982653	chr12:41069155-41069156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530295316	chr12:41069195-41069196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548821727	chr12:41069196-41069197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372373010	chr12:41069205-41069206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35683097	chr12:41069222-41069223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs398019210	chr12:41069226-41069227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10161138	chr12:41069301-41069302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs34216263	chr12:41069348-41069349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10161139	chr12:41069405-41069406	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs369777373	chr12:41069438-41069439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553144870	chr12:41069500-41069501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571362992	chr12:41069606-41069607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75575033	chr12:41069646-41069647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556643215	chr12:41069657-41069658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575513065	chr12:41069658-41069659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534585124	chr12:41069659-41069660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1596515	chr12:41069673-41069674	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs572738022	chr12:41069731-41069732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs80093429	chr12:41069759-41069760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565038679	chr12:41069802-41069803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10748131	chr12:41069855-41069856	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs527918619	chr12:41069934-41069935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12580796	chr12:41069948-41069949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41067000-41072600	Weak transcription	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links