Variant report

Variant	nsv826348
Chromosome Location	chr12:41752718-41754247
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	chr12:41753620..41755968-chr12:41842392..41845001,2	K562	blood:
2	chr12:41753701..41755841-chr12:41755916..41757984,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 57 )

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	rs563825086	chr12:41752734-41752735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530860068	chr12:41752746-41752747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549450028	chr12:41752758-41752759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568310577	chr12:41752799-41752800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11180851	chr12:41752815-41752816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs111556857	chr12:41752863-41752864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143584173	chr12:41752897-41752898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371882074	chr12:41752937-41752938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576098574	chr12:41752943-41752944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529315107	chr12:41752983-41752984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147193235	chr12:41753073-41753074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10785255	chr12:41753243-41753244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs140606962	chr12:41753315-41753316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112632425	chr12:41753339-41753340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541209931	chr12:41753342-41753343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559632475	chr12:41753358-41753359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367586577	chr12:41753359-41753360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1918219	chr12:41753399-41753400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs554812366	chr12:41753417-41753418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375725557	chr12:41753436-41753437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190985883	chr12:41753444-41753445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563491632	chr12:41753471-41753472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370106730	chr12:41753475-41753476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551579902	chr12:41753487-41753488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144320088	chr12:41753488-41753489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530932661	chr12:41753497-41753498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570980396	chr12:41753519-41753520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7979586	chr12:41753602-41753603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs529117452	chr12:41753642-41753643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145698284	chr12:41753724-41753725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556279741	chr12:41753731-41753732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565984210	chr12:41753788-41753789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4768351	chr12:41753811-41753812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs551642504	chr12:41753841-41753842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569595484	chr12:41753842-41753843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73274414	chr12:41753874-41753875	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs555077591	chr12:41753920-41753921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573364594	chr12:41753921-41753922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183445892	chr12:41753959-41753960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553102733	chr12:41753963-41753964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148500806	chr12:41754003-41754004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73274416	chr12:41754012-41754013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs563987817	chr12:41754013-41754014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575586455	chr12:41754018-41754019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543011206	chr12:41754059-41754060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561389391	chr12:41754088-41754089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544918812	chr12:41754100-41754101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1405554	chr12:41754137-41754138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559627926	chr12:41754185-41754186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533147133	chr12:41754197-41754198	Weak transcription	n/a	n/a	Overlapped CNVs	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41749600-41755400	Weak transcription	Brain Germinal Matrix	brain
2	chr12:41749800-41755200	Weak transcription	Colon Smooth Muscle	Colon

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