Variant report

Variant	esv3417437
Chromosome Location	chr12:40900070-40907460
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:40882994..40885029-chr12:40904694..40907438,2	K562	blood:
2	chr12:40902352..40904327-chr12:40904757..40907254,2	K562	blood:
3	chr12:40902352..40904327-chr12:40904757..40907254,2	K562	blood:

Extended variants
information (count: 383 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs36106309	chr12:40900079-40900080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2638881	chr12:40900087-40900088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs546346683	chr12:40900088-40900089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374917730	chr12:40900116-40900117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2588395	chr12:40900137-40900138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs540427062	chr12:40900144-40900145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12368100	chr12:40900196-40900197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs191568268	chr12:40900203-40900204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573793860	chr12:40900293-40900294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541069206	chr12:40900308-40900309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553314836	chr12:40900331-40900332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs578207777	chr12:40900349-40900350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545654945	chr12:40900383-40900384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577595515	chr12:40900397-40900398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75738014	chr12:40900406-40900407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543543914	chr12:40900413-40900414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182984995	chr12:40900443-40900444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144996231	chr12:40900476-40900477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547106906	chr12:40900479-40900480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4767980	chr12:40900513-40900514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs199883092	chr12:40900528-40900529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533095025	chr12:40900532-40900533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551612471	chr12:40900562-40900563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78299022	chr12:40900601-40900602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73110075	chr12:40900607-40900608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs548276753	chr12:40900615-40900616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374437332	chr12:40900616-40900617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555135097	chr12:40900617-40900618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75836292	chr12:40900639-40900640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377308774	chr12:40900657-40900658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553111566	chr12:40900691-40900692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73110078	chr12:40900703-40900704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs186960234	chr12:40900784-40900785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536871012	chr12:40900806-40900807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371095401	chr12:40900812-40900813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2638882	chr12:40900819-40900820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs190177450	chr12:40900832-40900833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374237206	chr12:40900877-40900878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144861614	chr12:40900915-40900916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182117458	chr12:40900916-40900917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532896803	chr12:40900965-40900966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551089803	chr12:40900989-40900990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563285590	chr12:40900996-40900997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530701902	chr12:40901017-40901018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561689484	chr12:40901025-40901026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2638883	chr12:40901045-40901046	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs567093333	chr12:40901096-40901097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534821158	chr12:40901139-40901140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547027589	chr12:40901175-40901176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571554330	chr12:40901178-40901179	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40894800-40908600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:40899200-40904600	Weak transcription	GM12878-XiMat	blood
3	chr12:40902000-40902200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:40902200-40903000	Enhancers	Fetal Lung	lung
5	chr12:40904600-40905800	Enhancers	GM12878-XiMat	blood
6	chr12:40905800-40908000	Weak transcription	GM12878-XiMat	blood
7	chr12:40906800-40908000	Weak transcription	HMEC	breast

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