Variant report

Variant	esv3390841
Chromosome Location	chr12:40900720-40903205
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	chr12:40902352..40904327-chr12:40904757..40907254,2	K562	blood:

Extended variants
information (count: 107 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186960234	chr12:40900784-40900785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536871012	chr12:40900806-40900807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371095401	chr12:40900812-40900813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2638882	chr12:40900819-40900820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs190177450	chr12:40900832-40900833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374237206	chr12:40900877-40900878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144861614	chr12:40900915-40900916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182117458	chr12:40900916-40900917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532896803	chr12:40900965-40900966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551089803	chr12:40900989-40900990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563285590	chr12:40900996-40900997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530701902	chr12:40901017-40901018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561689484	chr12:40901025-40901026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2638883	chr12:40901045-40901046	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs567093333	chr12:40901096-40901097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534821158	chr12:40901139-40901140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547027589	chr12:40901175-40901176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571554330	chr12:40901178-40901179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539069239	chr12:40901215-40901216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557381841	chr12:40901228-40901229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7307289	chr12:40901229-40901230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs536918103	chr12:40901231-40901232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187611893	chr12:40901234-40901235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs193210942	chr12:40901238-40901239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553101630	chr12:40901331-40901332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540776200	chr12:40901351-40901352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559448765	chr12:40901369-40901370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17128358	chr12:40901371-40901372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs185508290	chr12:40901384-40901385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562921192	chr12:40901423-40901424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372459706	chr12:40901439-40901440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535429167	chr12:40901520-40901521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548829112	chr12:40901537-40901538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560754708	chr12:40901546-40901547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557386411	chr12:40901562-40901563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575868007	chr12:40901602-40901603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528242727	chr12:40901619-40901620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2920827	chr12:40901621-40901622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs76377207	chr12:40901656-40901657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140477119	chr12:40901661-40901662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538740634	chr12:40901672-40901673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189237866	chr12:40901704-40901705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145651731	chr12:40901732-40901733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192856065	chr12:40901757-40901758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184663628	chr12:40901818-40901819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115423731	chr12:40901861-40901862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2933376	chr12:40901912-40901913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs540353699	chr12:40901922-40901923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112645541	chr12:40901948-40901949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577698019	chr12:40901964-40901965	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:4 , 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

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