Variant report

Variant	nsv523801
Chromosome Location	chr12:41291402-41292469
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12372413	chr12:41291402-41291403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12307310	chr12:41291403-41291404	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs541421517	chr12:41291407-41291408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553056339	chr12:41291411-41291412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578211874	chr12:41291461-41291462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545273380	chr12:41291465-41291466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563572803	chr12:41291474-41291475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149654315	chr12:41291481-41291482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17621281	chr12:41291490-41291491	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs148841183	chr12:41291499-41291500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528941710	chr12:41291516-41291517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560165033	chr12:41291539-41291540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547387502	chr12:41291552-41291553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142573661	chr12:41291560-41291561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533295540	chr12:41291568-41291569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150964595	chr12:41291572-41291573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17543980	chr12:41291595-41291596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs537244222	chr12:41291621-41291622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543177449	chr12:41291658-41291659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186313511	chr12:41291703-41291704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115382208	chr12:41291771-41291772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113193617	chr12:41291777-41291778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189447906	chr12:41291792-41291793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17128913	chr12:41291809-41291810	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs113806857	chr12:41291815-41291816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115950720	chr12:41291826-41291827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575486555	chr12:41291827-41291828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542823335	chr12:41291843-41291844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181754658	chr12:41291848-41291849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186981128	chr12:41291868-41291869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191391261	chr12:41291876-41291877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144818666	chr12:41291903-41291904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371903551	chr12:41291961-41291962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117351144	chr12:41291976-41291977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551749304	chr12:41291977-41291978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563581379	chr12:41291978-41291979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530788115	chr12:41292083-41292084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549180346	chr12:41292100-41292101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565240441	chr12:41292162-41292163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567325390	chr12:41292168-41292169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533078622	chr12:41292183-41292184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536963499	chr12:41292201-41292202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535151499	chr12:41292233-41292234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551648417	chr12:41292252-41292253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367887849	chr12:41292283-41292284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566586196	chr12:41292290-41292291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548813277	chr12:41292306-41292307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538650249	chr12:41292351-41292352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527462113	chr12:41292354-41292355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13377827	chr12:41292412-41292413	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41285000-41304600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:41288400-41294800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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