Variant report

Variant	nsv583999
Chromosome Location	chr2:185126769-185166472
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:185128748..185131745-chr2:185134110..185138355,3	K562	blood:
2	chr2:185160917..185163331-chr2:185190953..185193318,2	K562	blood:
3	chr16:57227705..57228253-chr2:185151504..185152004,2	NB4	blood:
4	chr2:185128748..185131745-chr2:185134110..185138355,3	K562	blood:

Extended variants
information (count: 369 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6735475	chr2:185126769-185126770	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs34435850	chr2:185126783-185126784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536468300	chr2:185126792-185126793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78605799	chr2:185126864-185126865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554878381	chr2:185126865-185126866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565300300	chr2:185126881-185126882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73032320	chr2:185126885-185126886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564734316	chr2:185126894-185126895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116605043	chr2:185126898-185126899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116767381	chr2:185126900-185126901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577214551	chr2:185126925-185126926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541494852	chr2:185127041-185127042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559627019	chr2:185127042-185127043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530202780	chr2:185127043-185127044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62175045	chr2:185127055-185127056	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs563599053	chr2:185127056-185127057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531098438	chr2:185127111-185127112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372368205	chr2:185127126-185127127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561665376	chr2:185127128-185127129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185586263	chr2:185127130-185127131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375358159	chr2:185127299-185127300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547436938	chr2:185127327-185127328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369043313	chr2:185127355-185127356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12472546	chr2:185127391-185127392	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs536408273	chr2:185127476-185127477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374973450	chr2:185127491-185127492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554815330	chr2:185127495-185127496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144011622	chr2:185127527-185127528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7558999	chr2:185127554-185127555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs149193732	chr2:185127648-185127649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142378044	chr2:185127769-185127770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577154480	chr2:185127862-185127863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551217607	chr2:185127882-185127883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553384299	chr2:185127905-185127906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1350110	chr2:185127943-185127944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs541959515	chr2:185127966-185127967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190045352	chr2:185127985-185127986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1350109	chr2:185128121-185128122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs56392942	chr2:185128179-185128180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559927018	chr2:185128185-185128186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564637826	chr2:185128186-185128187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527447862	chr2:185128205-185128206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547082338	chr2:185128277-185128278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147962189	chr2:185128293-185128294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183740431	chr2:185128303-185128304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141818098	chr2:185128411-185128412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551280914	chr2:185128456-185128457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569845223	chr2:185128459-185128460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62175046	chr2:185128471-185128472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs145800398	chr2:185128484-185128485	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185125400-185127400	Enhancers	Liver	Liver
2	chr2:185125600-185127000	Enhancers	Adipose Nuclei	Adipose
3	chr2:185126000-185126800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:185126800-185128600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:185127000-185134200	Weak transcription	Adipose Nuclei	Adipose
6	chr2:185128600-185129200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:185129000-185129200	Enhancers	Liver	Liver
8	chr2:185129200-185134800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:185133800-185134200	Enhancers	Psoas Muscle	Psoas
10	chr2:185134200-185134600	Weak transcription	Psoas Muscle	Psoas
11	chr2:185134200-185136600	Enhancers	Adipose Nuclei	Adipose
12	chr2:185134600-185134800	Enhancers	Psoas Muscle	Psoas
13	chr2:185134600-185134800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr2:185134800-185136200	Weak transcription	Psoas Muscle	Psoas
15	chr2:185134800-185137000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:185135400-185137400	Enhancers	K562	blood
17	chr2:185135600-185136000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:185135600-185136000	Enhancers	Fetal Kidney	kidney
19	chr2:185135600-185136200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:185136000-185137000	Weak transcription	Fetal Kidney	kidney
21	chr2:185136000-185137600	Enhancers	Fetal Heart	heart
22	chr2:185136200-185136800	Enhancers	Psoas Muscle	Psoas
23	chr2:185136600-185137000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:185137000-185137200	Enhancers	Fetal Kidney	kidney

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