Variant report

Variant	nsv962122
Chromosome Location	chr2:185634595-185641317
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558422061	chr2:185634609-185634610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10194277	chr2:185634659-185634660	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs10194285	chr2:185634674-185634675	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs184320466	chr2:185634700-185634701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150939553	chr2:185634704-185634705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532503726	chr2:185634733-185634734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564293685	chr2:185634734-185634735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531579162	chr2:185634746-185634747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187763091	chr2:185634749-185634750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541349473	chr2:185634754-185634755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550097512	chr2:185634766-185634767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192333048	chr2:185634860-185634861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372961835	chr2:185634875-185634876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs59318193	chr2:185634888-185634889	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs530306999	chr2:185634938-185634939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183700671	chr2:185634959-185634960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140790404	chr2:185634972-185634973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143317889	chr2:185635116-185635117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549771480	chr2:185635134-185635135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571249933	chr2:185635162-185635163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538769742	chr2:185635203-185635204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368313001	chr2:185635212-185635213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140265657	chr2:185635247-185635248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200716295	chr2:185635260-185635261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376837916	chr2:185635261-185635262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189290477	chr2:185635315-185635316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536408701	chr2:185635325-185635326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs180832145	chr2:185635326-185635327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373659974	chr2:185635358-185635359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114083132	chr2:185635402-185635403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10497656	chr2:185635413-185635414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs535809159	chr2:185635467-185635468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184940921	chr2:185635485-185635486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576818564	chr2:185635514-185635515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541212549	chr2:185635527-185635528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559750867	chr2:185635636-185635637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112918004	chr2:185635675-185635676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548727612	chr2:185635717-185635718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563990846	chr2:185635718-185635719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371830667	chr2:185635733-185635734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531257922	chr2:185635743-185635744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552885275	chr2:185635744-185635745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189841760	chr2:185635833-185635834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371331986	chr2:185635844-185635845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10174301	chr2:185635853-185635854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs547186673	chr2:185635929-185635930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181742347	chr2:185635930-185635931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536081648	chr2:185635931-185635932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554777521	chr2:185635932-185635933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185941797	chr2:185635976-185635977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Schizophrenia	23813976	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185632000-185636400	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:185632200-185634600	Enhancers	HUVEC	blood vessel
3	chr2:185633200-185634600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:185633200-185634600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:185633600-185634600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:185633600-185634600	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr2:185633600-185635200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:185634600-185636600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr2:185636400-185636800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:185636600-185637200	Enhancers	Monocytes-CD14+_RO01746	blood

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