Variant report

Variant	nsv583738
Chromosome Location	chr2:178856430-178861725
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178860190..178862819-chr2:178863272..178865275,2	K562	blood:
2	chr2:178852131..178854988-chr2:178855154..178857922,2	K562	blood:
3	chr2:178834171..178836909-chr2:178857022..178858774,2	K562	blood:

Variant related genes	Relation type
ENSG00000213962	chromatin interactions

Extended variants
information (count: 179 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:179 , 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	rs13023495	chr2:178856430-178856431	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185651421	chr2:178856442-178856443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190065362	chr2:178856474-178856475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535208906	chr2:178856493-178856494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35631376	chr2:178856512-178856513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558522040	chr2:178856521-178856522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs578187672	chr2:178856603-178856604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10195936	chr2:178856610-178856611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545524755	chr2:178856652-178856653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375444264	chr2:178856672-178856673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35691613	chr2:178856681-178856682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs376512611	chr2:178856758-178856759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576063581	chr2:178856829-178856830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77115964	chr2:178856871-178856872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114153602	chr2:178856899-178856900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13003047	chr2:178856900-178856901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs571941237	chr2:178856946-178856947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540813906	chr2:178857002-178857003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564265446	chr2:178857020-178857021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533253773	chr2:178857029-178857030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549911702	chr2:178857065-178857066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548551053	chr2:178857078-178857079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144369819	chr2:178857087-178857088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181579568	chr2:178857152-178857153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13029844	chr2:178857169-178857170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183947156	chr2:178857202-178857203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542517002	chr2:178857207-178857208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549525392	chr2:178857220-178857221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566162922	chr2:178857229-178857230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535273953	chr2:178857255-178857256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188722472	chr2:178857271-178857272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs180752585	chr2:178857296-178857297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537706886	chr2:178857335-178857336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555904501	chr2:178857379-178857380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186209781	chr2:178857485-178857486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535063584	chr2:178857534-178857535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190842052	chr2:178857539-178857540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17330290	chr2:178857550-178857551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs540874918	chr2:178857625-178857626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552008492	chr2:178857648-178857649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199776670	chr2:178857653-178857654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144517585	chr2:178857656-178857657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148429153	chr2:178857698-178857699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142525718	chr2:178857728-178857729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531148936	chr2:178857821-178857822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1982131	chr2:178857871-178857872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs529340218	chr2:178857917-178857918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549387986	chr2:178857924-178857925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559930382	chr2:178857925-178857926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78884276	chr2:178857945-178857946	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178854600-178861400	Weak transcription	A549	lung
2	chr2:178854800-178861400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:178854800-178862400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:178855000-178861200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:178859000-178859600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:178860600-178863600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:178861200-178864800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:178861400-178861600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:178861400-178861600	Enhancers	A549	lung
10	chr2:178861400-178863800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:178861600-178862400	Weak transcription	A549	lung
12	chr2:178861600-178862600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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