Variant report

Variant	nsv583639
Chromosome Location	chr2:173004964-173006567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536578030	chr2:173004979-173004980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs72625238	chr2:173005061-173005062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs148703556	chr2:173005079-173005080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141341448	chr2:173005088-173005089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190757998	chr2:173005131-173005132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577426873	chr2:173005136-173005137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs180899108	chr2:173005172-173005173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562926478	chr2:173005212-173005213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72625239	chr2:173005230-173005231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs72879560	chr2:173005261-173005262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186181404	chr2:173005274-173005275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190298803	chr2:173005305-173005306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79251258	chr2:173005342-173005343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552545649	chr2:173005432-173005433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4484004	chr2:173005433-173005434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370866150	chr2:173005450-173005451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550241442	chr2:173005480-173005481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139431714	chr2:173005492-173005493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535862106	chr2:173005506-173005507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542751220	chr2:173005510-173005511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79196979	chr2:173005513-173005514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77012163	chr2:173005514-173005515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34671865	chr2:173005531-173005532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79699061	chr2:173005563-173005564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182930868	chr2:173005590-173005591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534041807	chr2:173005646-173005647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145000839	chr2:173005769-173005770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577089438	chr2:173005800-173005801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs57924700	chr2:173005811-173005812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs556370714	chr2:173005859-173005860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574819892	chr2:173005876-173005877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568469636	chr2:173005886-173005887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144384157	chr2:173005962-173005963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568131818	chr2:173005963-173005964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187443927	chr2:173005982-173005983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190770605	chr2:173006013-173006014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530597156	chr2:173006032-173006033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572420505	chr2:173006042-173006043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147593087	chr2:173006105-173006106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59291252	chr2:173006131-173006132	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs140350931	chr2:173006143-173006144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550692274	chr2:173006171-173006172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183827047	chr2:173006219-173006220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189068203	chr2:173006234-173006235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75602991	chr2:173006301-173006302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79258322	chr2:173006302-173006303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61524491	chr2:173006304-173006305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77682703	chr2:173006306-173006307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78215616	chr2:173006307-173006308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548403391	chr2:173006343-173006344	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:3 , 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

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