Variant report

Variant	nsv978957
Chromosome Location	chr2:186960176-186963690
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FSIP2-3	chr2:186963163-186964146	NONHSAT075986

Extended variants
information (count: 84 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529218178	chr2:186960218-186960219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs13019653	chr2:186960278-186960279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs369566785	chr2:186960282-186960283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150089511	chr2:186960316-186960317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546652959	chr2:186960419-186960420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs57376196	chr2:186960500-186960501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs398080894	chr2:186960503-186960504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539500416	chr2:186960568-186960569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs193035623	chr2:186960587-186960588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199959342	chr2:186960652-186960653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372165958	chr2:186960678-186960679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34919435	chr2:186960719-186960720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113179407	chr2:186960732-186960733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1386518	chr2:186960743-186960744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12988403	chr2:186960749-186960750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs377094534	chr2:186960788-186960789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370970498	chr2:186960800-186960801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10189482	chr2:186960817-186960818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs1386519	chr2:186960839-186960840	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs568251925	chr2:186960849-186960850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535594048	chr2:186960900-186960901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138630389	chr2:186960969-186960970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184568661	chr2:186961081-186961082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34150226	chr2:186961088-186961089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577615812	chr2:186961111-186961112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187531213	chr2:186961418-186961419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560397058	chr2:186961432-186961433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555283382	chr2:186961537-186961538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4544395	chr2:186961599-186961600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540033068	chr2:186961608-186961609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561967283	chr2:186961683-186961684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192991757	chr2:186961696-186961697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529168918	chr2:186961750-186961751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140384495	chr2:186961765-186961766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115624268	chr2:186961766-186961767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62199020	chr2:186961799-186961800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs201194666	chr2:186961907-186961908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551468891	chr2:186961932-186961933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566421639	chr2:186961938-186961939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533934037	chr2:186961994-186961995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555672587	chr2:186962068-186962069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4477870	chr2:186962086-186962087	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs184156803	chr2:186962177-186962178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556458443	chr2:186962194-186962195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376451700	chr2:186962214-186962215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577829222	chr2:186962282-186962283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188486611	chr2:186962288-186962289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181625280	chr2:186962330-186962331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75402955	chr2:186962417-186962418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78790616	chr2:186962418-186962419	Weak transcription Enhancers	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
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
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
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164919	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186956000-186968200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:186962000-186963200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:186962200-186963800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:186962600-186973400	Weak transcription	Pancreas	Pancrea
5	chr2:186963000-186965200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:186963200-186965000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:186963400-186965200	Enhancers	Cortex derived primary cultured neurospheres	brain

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