Variant report

Variant	nsv438375
Chromosome Location	chr2:185128121-185134237
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:185128748..185131745-chr2:185134110..185138355,3	K562	blood:
2	chr2:185128748..185131745-chr2:185134110..185138355,3	K562	blood:

Extended variants
information (count: 216 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:216 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1350109	chr2:185128121-185128122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs56392942	chr2:185128179-185128180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559927018	chr2:185128185-185128186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564637826	chr2:185128186-185128187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527447862	chr2:185128205-185128206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547082338	chr2:185128277-185128278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147962189	chr2:185128293-185128294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183740431	chr2:185128303-185128304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141818098	chr2:185128411-185128412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551280914	chr2:185128456-185128457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569845223	chr2:185128459-185128460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62175046	chr2:185128471-185128472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs145800398	chr2:185128484-185128485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7603320	chr2:185128543-185128544	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs188267983	chr2:185128564-185128565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534976568	chr2:185128581-185128582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372753349	chr2:185128655-185128656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550179951	chr2:185128661-185128662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199620995	chr2:185128664-185128665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528147684	chr2:185128676-185128677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546692223	chr2:185128710-185128711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553082711	chr2:185128813-185128814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76727170	chr2:185128863-185128864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541896055	chr2:185128930-185128931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553318703	chr2:185129092-185129093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs67693460	chr2:185129113-185129114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs386653432	chr2:185129115-185129116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs193261877	chr2:185129116-185129117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75884704	chr2:185129180-185129181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141877470	chr2:185129266-185129267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575396761	chr2:185129277-185129278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138638471	chr2:185129301-185129302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564757130	chr2:185129319-185129320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184056373	chr2:185129355-185129356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556111243	chr2:185129362-185129363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540965821	chr2:185129453-185129454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140247023	chr2:185129458-185129459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115760736	chr2:185129492-185129493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150321677	chr2:185129536-185129537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs58046160	chr2:185129599-185129600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538830957	chr2:185129600-185129601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187881273	chr2:185129621-185129622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191535766	chr2:185129632-185129633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552095486	chr2:185129663-185129664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34147693	chr2:185129674-185129675	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs7569353	chr2:185129689-185129690	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs56320760	chr2:185129701-185129702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369576037	chr2:185129711-185129712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575924737	chr2:185129715-185129716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568804805	chr2:185129736-185129737	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185126800-185128600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:185127000-185134200	Weak transcription	Adipose Nuclei	Adipose
3	chr2:185128600-185129200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:185129000-185129200	Enhancers	Liver	Liver
5	chr2:185129200-185134800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:185133800-185134200	Enhancers	Psoas Muscle	Psoas
7	chr2:185134200-185134600	Weak transcription	Psoas Muscle	Psoas
8	chr2:185134200-185136600	Enhancers	Adipose Nuclei	Adipose

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