Variant report

Variant	esv3411837
Chromosome Location	chr12:60397485-60399683
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	chr1:107703503..107704327-chr12:60399253..60400075,2	MCF-7	breast:

Extended variants
information (count: 87 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563756466	chr12:60397496-60397497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185300683	chr12:60397539-60397540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541595458	chr12:60397630-60397631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533030660	chr12:60397683-60397684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539996965	chr12:60397705-60397706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553320092	chr12:60397746-60397747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148404546	chr12:60397754-60397755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190065051	chr12:60397879-60397880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369934163	chr12:60397899-60397900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556098137	chr12:60397909-60397910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182985387	chr12:60397916-60397917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188319946	chr12:60397936-60397937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557064949	chr12:60397966-60397967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576890043	chr12:60397975-60397976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs193269015	chr12:60397981-60397982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183741194	chr12:60398021-60398022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559323630	chr12:60398023-60398024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528386194	chr12:60398030-60398031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541677679	chr12:60398042-60398043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561660083	chr12:60398059-60398060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141603331	chr12:60398085-60398086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550583697	chr12:60398090-60398091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187887204	chr12:60398123-60398124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12321698	chr12:60398134-60398135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547164220	chr12:60398238-60398239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532814069	chr12:60398247-60398248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535679969	chr12:60398275-60398276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536063996	chr12:60398306-60398307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140165587	chr12:60398310-60398311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552612679	chr12:60398315-60398316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12315556	chr12:60398336-60398337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372811579	chr12:60398337-60398338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376468153	chr12:60398347-60398348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369087200	chr12:60398359-60398360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113761857	chr12:60398381-60398382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372693052	chr12:60398400-60398401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11173270	chr12:60398402-60398403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376099413	chr12:60398422-60398423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11173271	chr12:60398423-60398424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183755094	chr12:60398425-60398426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188869254	chr12:60398430-60398431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369434514	chr12:60398436-60398437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372994775	chr12:60398442-60398443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376241849	chr12:60398444-60398445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191694119	chr12:60398452-60398453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374034994	chr12:60398464-60398465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370929115	chr12:60398475-60398476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11173272	chr12:60398486-60398487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376335364	chr12:60398487-60398488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11173273	chr12:60398488-60398489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Melanoma	20877625	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	chr12:60377400-60403800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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