Variant report

Variant	nsv583588
Chromosome Location	chr2:167557904-167589745
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	chr2:167583643..167586491-chr2:167588545..167591406,2	K562	blood:
2	chr2:167583643..167586491-chr2:167588545..167591406,2	K562	blood:

Extended variants
information (count: 128 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1396873	chr2:167557904-167557905	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs373146780	chr2:167557913-167557914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188349103	chr2:167557920-167557921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577943474	chr2:167557924-167557925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540541176	chr2:167557930-167557931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13411748	chr2:167557934-167557935	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs191098988	chr2:167557963-167557964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543110162	chr2:167558025-167558026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563017905	chr2:167558040-167558041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531825199	chr2:167558079-167558080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533306682	chr2:167558101-167558102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149554534	chr2:167558107-167558108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116140832	chr2:167558122-167558123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs36120090	chr2:167558183-167558184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533273605	chr2:167558190-167558191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376237076	chr2:167581886-167581887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs60276974	chr2:167581890-167581891	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs145804811	chr2:167581906-167581907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148651618	chr2:167581921-167581922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575738584	chr2:167581969-167581970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77938052	chr2:167582001-167582002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563616533	chr2:167582031-167582032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182796667	chr2:167582075-167582076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545981617	chr2:167582091-167582092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559242616	chr2:167582100-167582101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113637956	chr2:167582183-167582184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188355991	chr2:167582193-167582194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192198884	chr2:167582206-167582207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377530985	chr2:167582226-167582227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111680610	chr2:167582262-167582263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375783119	chr2:167582274-167582275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571143466	chr2:167582284-167582285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6721470	chr2:167582407-167582408	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs547265995	chr2:167582429-167582430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567119570	chr2:167582448-167582449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536037479	chr2:167582449-167582450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116215345	chr2:167582469-167582470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575774878	chr2:167582479-167582480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182152299	chr2:167582482-167582483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148857478	chr2:167582513-167582514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78321156	chr2:167582684-167582685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577077726	chr2:167582708-167582709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545818954	chr2:167582718-167582719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs80262639	chr2:167582773-167582774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547141275	chr2:167582778-167582779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567374870	chr2:167582787-167582788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541608630	chr2:167582804-167582805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367578829	chr2:167582870-167582871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371853615	chr2:167582881-167582882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114016501	chr2:167582892-167582893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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	22495311	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
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	18414403	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	16573809	CNVD
Epilepsy	21204806	CNVD
Myelofibrosis	22110671	CNVD
Neonatal seizures	20384724	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:167557800-167558200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:167581800-167582000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr2:167582000-167583000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:167582200-167583800	Enhancers	HepG2	liver
5	chr2:167582400-167582800	Enhancers	Liver	Liver
6	chr2:167582800-167583200	Weak transcription	Liver	Liver
7	chr2:167582800-167584400	Enhancers	Primary B cells from cord blood	blood
8	chr2:167583000-167583600	Enhancers	GM12878-XiMat	blood
9	chr2:167583000-167584000	Enhancers	Primary hematopoietic stem cells	blood
10	chr2:167583000-167584400	Enhancers	Primary B cells from peripheral blood	blood
11	chr2:167583000-167584600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr2:167583200-167583600	Enhancers	Liver	Liver
13	chr2:167583800-167584200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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