Variant report

Variant	nsv821847
Chromosome Location	chr2:186326466-186327516
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FSIP2-5	chr2:186327396-186327672	NONHSAT075962

Extended variants
information (count: 53 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141368380	chr2:186326475-186326476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534456170	chr2:186326481-186326482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573267640	chr2:186326522-186326523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377310388	chr2:186326526-186326527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79576314	chr2:186326540-186326541	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
6	rs573861224	chr2:186326711-186326712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75109151	chr2:186326715-186326716	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
8	rs147053284	chr2:186326734-186326735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575031667	chr2:186326861-186326862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs202077673	chr2:186326863-186326864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561930330	chr2:186326883-186326884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563516413	chr2:186326890-186326891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541866858	chr2:186326902-186326903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187825637	chr2:186326921-186326922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141380265	chr2:186326933-186326934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567947401	chr2:186326936-186326937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12990307	chr2:186326993-186326994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs147698919	chr2:186327061-186327062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540483479	chr2:186327063-186327064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78156093	chr2:186327067-186327068	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
21	rs529073119	chr2:186327087-186327088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35232204	chr2:186327090-186327091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201960074	chr2:186327162-186327163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550827103	chr2:186327168-186327169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372519312	chr2:186327190-186327191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192399996	chr2:186327205-186327206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551585405	chr2:186327224-186327225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566816626	chr2:186327269-186327270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183879566	chr2:186327280-186327281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571026226	chr2:186327292-186327293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549236783	chr2:186327297-186327298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12615022	chr2:186327304-186327305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs372753807	chr2:186327309-186327310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538033635	chr2:186327310-186327311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200335498	chr2:186327316-186327317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576084791	chr2:186327328-186327329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575517482	chr2:186327339-186327340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368652623	chr2:186327349-186327350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187696121	chr2:186327367-186327368	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
40	rs3054702	chr2:186327384-186327385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201689242	chr2:186327389-186327390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199956664	chr2:186327390-186327391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2042508	chr2:186327393-186327394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2042509	chr2:186327394-186327395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2113528	chr2:186327401-186327402	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs2113527	chr2:186327402-186327403	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs201401065	chr2:186327403-186327404	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs545010084	chr2:186327404-186327405	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs62198859	chr2:186327413-186327414	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs28379193	chr2:186327414-186327415	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186314400-186345200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:186317000-186337400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:186321400-186358600	Weak transcription	HMEC	breast
4	chr2:186321800-186331200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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