Variant report

Variant	nsv583659
Chromosome Location	chr2:173005800-173007203
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 47 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577089438	chr2:173005800-173005801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs57924700	chr2:173005811-173005812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs556370714	chr2:173005859-173005860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574819892	chr2:173005876-173005877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568469636	chr2:173005886-173005887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144384157	chr2:173005962-173005963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568131818	chr2:173005963-173005964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187443927	chr2:173005982-173005983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190770605	chr2:173006013-173006014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530597156	chr2:173006032-173006033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572420505	chr2:173006042-173006043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147593087	chr2:173006105-173006106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs59291252	chr2:173006131-173006132	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs140350931	chr2:173006143-173006144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550692274	chr2:173006171-173006172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183827047	chr2:173006219-173006220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189068203	chr2:173006234-173006235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75602991	chr2:173006301-173006302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79258322	chr2:173006302-173006303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs61524491	chr2:173006304-173006305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77682703	chr2:173006306-173006307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78215616	chr2:173006307-173006308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548403391	chr2:173006343-173006344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201404022	chr2:173006344-173006345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529750595	chr2:173006382-173006383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56344347	chr2:173006434-173006435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547888196	chr2:173006436-173006437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192172646	chr2:173006449-173006450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534104192	chr2:173006506-173006507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552482121	chr2:173006544-173006545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570698496	chr2:173006552-173006553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12616028	chr2:173006558-173006559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538032968	chr2:173006722-173006723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184540182	chr2:173006730-173006731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139180397	chr2:173006808-173006809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs59708189	chr2:173006811-173006812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs397719494	chr2:173006817-173006818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370818384	chr2:173006818-173006819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567469333	chr2:173006825-173006826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200156818	chr2:173006826-173006827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571044402	chr2:173006831-173006832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535908600	chr2:173006832-173006833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553899567	chr2:173006836-173006837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs55872439	chr2:173006837-173006838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186907536	chr2:173006860-173006861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191859173	chr2:173006880-173006881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6755845	chr2:173006920-173006921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375026057	chr2:173006926-173006927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564431565	chr2:173006948-173006949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77904936	chr2:173007088-173007089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

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
Cancer	20164919	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
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	21384125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173002200-173012600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:173004400-173007200	Weak transcription	Fetal Brain Male	brain
3	chr2:173006400-173006800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:173006600-173007000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:173006600-173012600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:173006800-173010600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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