Variant report

Variant	esv2476758
Chromosome Location	chr12:40864242-40865712
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	chr12:40855828..40858199-chr12:40862513..40864667,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 58 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553981766	chr12:40864243-40864244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369427853	chr12:40864263-40864264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577522489	chr12:40864303-40864304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185681511	chr12:40864334-40864335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527713731	chr12:40864392-40864393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374192924	chr12:40864407-40864408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368477684	chr12:40864419-40864420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116590739	chr12:40864442-40864443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546313434	chr12:40864474-40864475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79143464	chr12:40864484-40864485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12423491	chr12:40864499-40864500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576474044	chr12:40864547-40864548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10161371	chr12:40864585-40864586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543863370	chr12:40864602-40864603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542626653	chr12:40864607-40864608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529630577	chr12:40864645-40864646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544768587	chr12:40864703-40864704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541260480	chr12:40864704-40864705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116440217	chr12:40864723-40864724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115662189	chr12:40864735-40864736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551821152	chr12:40864754-40864755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79715276	chr12:40864796-40864797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77553125	chr12:40864797-40864798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113041084	chr12:40864798-40864799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568797015	chr12:40864819-40864820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77990607	chr12:40864821-40864822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530380491	chr12:40864856-40864857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570241649	chr12:40864893-40864894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531193408	chr12:40864950-40864951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372142518	chr12:40864971-40864972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200783684	chr12:40865025-40865026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375213569	chr12:40865027-40865028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376671940	chr12:40865087-40865088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370775872	chr12:40865088-40865089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373885835	chr12:40865089-40865090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368157658	chr12:40865090-40865091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370095678	chr12:40865091-40865092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549407721	chr12:40865195-40865196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138266476	chr12:40865283-40865284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12813279	chr12:40865370-40865371	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs182140504	chr12:40865374-40865375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565835534	chr12:40865515-40865516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539668331	chr12:40865529-40865530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558258375	chr12:40865560-40865561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576642153	chr12:40865628-40865629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543827206	chr12:40865634-40865635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555777721	chr12:40865636-40865637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573953906	chr12:40865646-40865647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541668830	chr12:40865663-40865664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559810363	chr12:40865673-40865674	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40863400-40864400	Enhancers	Fetal Brain Male	brain
2	chr12:40864000-40867600	Weak transcription	Fetal Heart	heart

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