Variant report

Variant	nsv517338
Chromosome Location	chr12:41653979-41662453
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	chr12:41340385..41340901-chr12:41658157..41658700,2	MCF-7	breast:
2	chr12:41658168..41658718-chr12:42139304..42140019,2	MCF-7	breast:

Extended variants
information (count: 335 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10506183	chr12:41653979-41653980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12310860	chr12:41654006-41654007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs12297913	chr12:41654014-41654015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs190833022	chr12:41654034-41654035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138357037	chr12:41654089-41654090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564876526	chr12:41654126-41654127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75743266	chr12:41654131-41654132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73120950	chr12:41654151-41654152	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs143916998	chr12:41654187-41654188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373200863	chr12:41654227-41654228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374879819	chr12:41654235-41654236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576197940	chr12:41654236-41654237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182517047	chr12:41654298-41654299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532739776	chr12:41654321-41654322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185739401	chr12:41654346-41654347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573887036	chr12:41654352-41654353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369262844	chr12:41654358-41654359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7971737	chr12:41654419-41654420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs189715480	chr12:41654426-41654427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10506184	chr12:41654433-41654434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs544747888	chr12:41654499-41654500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563540022	chr12:41654504-41654505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10588823	chr12:41654528-41654529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533040278	chr12:41654539-41654540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543217620	chr12:41654549-41654550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182374150	chr12:41654606-41654607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs17129177	chr12:41654648-41654649	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs11180520	chr12:41654700-41654701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61141138	chr12:41654724-41654725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369928715	chr12:41654782-41654783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187984315	chr12:41654784-41654785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7960429	chr12:41654785-41654786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs191930199	chr12:41654902-41654903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569337048	chr12:41654907-41654908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540686854	chr12:41654915-41654916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536802542	chr12:41654937-41654938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs17129178	chr12:41654939-41654940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs150666837	chr12:41654962-41654963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564029193	chr12:41655007-41655008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77811518	chr12:41655018-41655019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534628513	chr12:41655028-41655029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551570522	chr12:41655059-41655060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552542331	chr12:41655077-41655078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184232258	chr12:41655139-41655140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544610278	chr12:41655156-41655157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556743108	chr12:41655164-41655165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139928120	chr12:41655195-41655196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149426811	chr12:41655221-41655222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561558261	chr12:41655228-41655229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73270806	chr12:41655251-41655252	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41644800-41657200	Weak transcription	Ovary	ovary
2	chr12:41651200-41661000	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:41657200-41657400	Enhancers	Ovary	ovary
4	chr12:41661000-41661200	Enhancers	Colon Smooth Muscle	Colon
5	chr12:41661200-41668400	Weak transcription	Colon Smooth Muscle	Colon

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