Variant report

Variant	nsv583990
Chromosome Location	chr2:184799961-184802609
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16825242	chr2:184799961-184799962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10497639	chr2:184800006-184800007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs140854509	chr2:184800023-184800024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555011421	chr2:184800044-184800045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565359988	chr2:184800045-184800046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190510964	chr2:184800050-184800051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143351151	chr2:184800099-184800100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577509822	chr2:184800118-184800119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556267073	chr2:184800144-184800145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540126194	chr2:184800186-184800187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556800103	chr2:184800237-184800238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7574704	chr2:184800249-184800250	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs542356659	chr2:184800272-184800273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373545123	chr2:184800367-184800368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112788771	chr2:184800379-184800380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562134130	chr2:184800381-184800382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146766229	chr2:184800393-184800394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570804090	chr2:184800413-184800414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371717753	chr2:184800456-184800457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539744196	chr2:184800457-184800458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541097576	chr2:184800460-184800461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs17785026	chr2:184800560-184800561	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs12463971	chr2:184800613-184800614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs549616347	chr2:184800614-184800615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563160182	chr2:184800617-184800618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529027199	chr2:184800621-184800622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373461741	chr2:184800638-184800639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535605983	chr2:184800639-184800640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548746470	chr2:184800664-184800665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs180901927	chr2:184800669-184800670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534710164	chr2:184800685-184800686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140421305	chr2:184800711-184800712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574037572	chr2:184800735-184800736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185905742	chr2:184800812-184800813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555192915	chr2:184800842-184800843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575276386	chr2:184800866-184800867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540148320	chr2:184800902-184800903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537477195	chr2:184800916-184800917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2165172	chr2:184800983-184800984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs561592990	chr2:184800986-184800987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576729482	chr2:184801003-184801004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536080587	chr2:184801005-184801006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145527288	chr2:184801045-184801046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138147893	chr2:184801074-184801075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190776622	chr2:184801083-184801084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs80053175	chr2:184801136-184801137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4637071	chr2:184801155-184801156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138597876	chr2:184801172-184801173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577927961	chr2:184801227-184801228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543336020	chr2:184801254-184801255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Autism	22543975	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184793000-184809000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:184800200-184800400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:184800400-184802000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:184802000-184802600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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