Variant report

Variant	nsv52737
Chromosome Location	chr12:41509477-41513732
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 180 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370708898	chr12:41509520-41509521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1797994	chr12:41509621-41509622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs550109167	chr12:41509633-41509634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12317058	chr12:41509715-41509716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs191229799	chr12:41509752-41509753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376811898	chr12:41509758-41509759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370431219	chr12:41509774-41509775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184502202	chr12:41509819-41509820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534170446	chr12:41509898-41509899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368465390	chr12:41509940-41509941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551612098	chr12:41509955-41509956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs202070433	chr12:41509965-41509966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568354449	chr12:41510004-41510005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs59231039	chr12:41510006-41510007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550737167	chr12:41510030-41510031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531365975	chr12:41510035-41510036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190248465	chr12:41510143-41510144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368032525	chr12:41510182-41510183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567965991	chr12:41510268-41510269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535425335	chr12:41510309-41510310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193274563	chr12:41510315-41510316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565571108	chr12:41510334-41510335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539442929	chr12:41510416-41510417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11179867	chr12:41510417-41510418	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs576214729	chr12:41510436-41510437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368742491	chr12:41510515-41510516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185661683	chr12:41510584-41510585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556044895	chr12:41510585-41510586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188873835	chr12:41510594-41510595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181714067	chr12:41510607-41510608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185284651	chr12:41510654-41510655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577929775	chr12:41510659-41510660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545014655	chr12:41510660-41510661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139062349	chr12:41510671-41510672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11179869	chr12:41510676-41510677	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs549558787	chr12:41510716-41510717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11179870	chr12:41510733-41510734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs147590709	chr12:41510749-41510750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374136585	chr12:41510797-41510798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547348983	chr12:41510800-41510801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142131291	chr12:41510889-41510890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188583869	chr12:41510896-41510897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551400376	chr12:41510897-41510898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11179873	chr12:41510940-41510941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs73121259	chr12:41510943-41510944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs144429929	chr12:41510962-41510963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574179640	chr12:41510978-41510979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12813644	chr12:41511005-41511006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs553352908	chr12:41511012-41511013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs578201454	chr12:41511062-41511063	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41503400-41512600	Weak transcription	Fetal Brain Male	brain
2	chr12:41512600-41514200	Enhancers	Fetal Brain Male	brain
3	chr12:41512600-41514600	Enhancers	Fetal Brain Female	brain
4	chr12:41513000-41514400	Enhancers	Brain Germinal Matrix	brain
5	chr12:41513600-41514400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links