Variant report

Variant	nsv528276
Chromosome Location	chr2:141354396-141362222
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 323 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:323 , 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	rs1372256	chr2:141354396-141354397	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1441469	chr2:141354420-141354421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs368319253	chr2:141354446-141354447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142047619	chr2:141354461-141354462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563520263	chr2:141354506-141354507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs3793149	chr2:141354507-141354508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs568332358	chr2:141354540-141354541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs61539815	chr2:141354593-141354594	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs185541533	chr2:141354596-141354597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs3793148	chr2:141354604-141354605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs114040567	chr2:141354607-141354608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115744181	chr2:141354617-141354618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190135689	chr2:141354623-141354624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557220337	chr2:141354634-141354635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570608202	chr2:141354644-141354645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114888378	chr2:141354679-141354680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559029498	chr2:141354686-141354687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557415522	chr2:141354700-141354701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146287933	chr2:141354701-141354702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541071114	chr2:141354702-141354703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs488610	chr2:141354744-141354745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs537205450	chr2:141354752-141354753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116181599	chr2:141354823-141354824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543693354	chr2:141354837-141354838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568256247	chr2:141354850-141354851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563796453	chr2:141354897-141354898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532764313	chr2:141354904-141354905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558910248	chr2:141354908-141354909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78966513	chr2:141354939-141354940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375785445	chr2:141354956-141354957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181756802	chr2:141354958-141354959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528164475	chr2:141354993-141354994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs36050170	chr2:141354994-141354995	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs474837	chr2:141354997-141354998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs371516809	chr2:141355011-141355012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75191769	chr2:141355027-141355028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372635625	chr2:141355033-141355034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550907245	chr2:141355046-141355047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570624743	chr2:141355054-141355055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552729300	chr2:141355081-141355082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539621041	chr2:141355084-141355085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs492190	chr2:141355107-141355108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs139562346	chr2:141355149-141355150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534774533	chr2:141355218-141355219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554580451	chr2:141355252-141355253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115237943	chr2:141355324-141355325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144494894	chr2:141355334-141355335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs494227	chr2:141355375-141355376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs577426310	chr2:141355381-141355382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373659353	chr2:141355383-141355384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141351800-141359000	Weak transcription	Pancreas	Pancrea
2	chr2:141353800-141354400	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr2:141354200-141357800	Weak transcription	A549	lung
4	chr2:141355400-141355800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:141357400-141358200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:141357400-141358200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:141357600-141358200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:141357600-141358200	Enhancers	NH-A	brain
9	chr2:141357600-141358400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:141357800-141358200	Enhancers	A549	lung
11	chr2:141358200-141361400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:141358200-141362000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:141358400-141361000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:141359000-141359200	ZNF genes & repeats	Pancreas	Pancrea
15	chr2:141361000-141362200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:141361400-141363000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:141362000-141362200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:141362200-141362600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:141362200-141362800	Enhancers	GM12878-XiMat	blood

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