Variant report

Variant	nsv583736
Chromosome Location	chr2:178851177-178857169
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178852131..178854988-chr2:178855154..178857922,2	K562	blood:
2	chr2:178834171..178836909-chr2:178857022..178858774,2	K562	blood:
3	chr2:178852131..178854988-chr2:178855154..178857922,2	K562	blood:

Extended variants
information (count: 189 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:189 , 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	rs10497477	chr2:178851177-178851178	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542560799	chr2:178851195-178851196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180995906	chr2:178851205-178851206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34595897	chr2:178851229-178851230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs35678669	chr2:178851275-178851276	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs551855589	chr2:178851296-178851297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13408518	chr2:178851315-178851316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs375051860	chr2:178851359-178851360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566871412	chr2:178851366-178851367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368055652	chr2:178851418-178851419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13395159	chr2:178851482-178851483	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs573167374	chr2:178851493-178851494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371518351	chr2:178851511-178851512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545468423	chr2:178851512-178851513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565233525	chr2:178851527-178851528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375745609	chr2:178851534-178851535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71010846	chr2:178851557-178851558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs57382231	chr2:178851572-178851573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140435050	chr2:178851595-178851596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144330268	chr2:178851654-178851655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62183411	chr2:178851684-178851685	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs13017462	chr2:178851710-178851711	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs532622063	chr2:178851720-178851721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13017473	chr2:178851727-178851728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs532619738	chr2:178851734-178851735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550970037	chr2:178851856-178851857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6433705	chr2:178851890-178851891	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs536766799	chr2:178851904-178851905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373438700	chr2:178851933-178851934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557045029	chr2:178851962-178851963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567231885	chr2:178851963-178851964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34363929	chr2:178851980-178851981	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs62183412	chr2:178852028-178852029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs151157694	chr2:178852062-178852063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187168916	chr2:178852100-178852101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6745288	chr2:178852150-178852151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs372668007	chr2:178852169-178852170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575568675	chr2:178852172-178852173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536642083	chr2:178852190-178852191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527682399	chr2:178852200-178852201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560728679	chr2:178852274-178852275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536883693	chr2:178852323-178852324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376864884	chr2:178852363-178852364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571732979	chr2:178852413-178852414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561468707	chr2:178852415-178852416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71410784	chr2:178852421-178852422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs397868959	chr2:178852426-178852427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371129524	chr2:178852447-178852448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375512820	chr2:178852494-178852495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140104957	chr2:178852506-178852507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	21720365	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178850000-178853200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:178850000-178854000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:178850000-178854200	Weak transcription	Fetal Intestine Large	intestine
4	chr2:178853000-178854600	Enhancers	A549	lung
5	chr2:178853200-178854200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:178853400-178854400	Enhancers	Osteobl	bone
7	chr2:178853400-178854600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:178853400-178854600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:178853400-178854600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr2:178853400-178855000	Enhancers	NH-A	brain
11	chr2:178853600-178854800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:178853800-178854200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:178854000-178854800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:178854200-178854400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:178854200-178854400	Enhancers	Fetal Intestine Large	intestine
16	chr2:178854200-178854600	Enhancers	Fetal Intestine Small	intestine
17	chr2:178854200-178854800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:178854400-178855000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:178854600-178861400	Weak transcription	A549	lung
20	chr2:178854800-178861400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:178854800-178862400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:178855000-178861200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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