Variant report

Variant	nsv962123
Chromosome Location	chr2:186472846-186477099
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	chr2:186473268..186473794-chr2:186603435..186603983,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188738	chromatin interactions
ENSG00000226747	chromatin interactions

Extended variants
information (count: 124 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528612857	chr2:186472848-186472849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537365011	chr2:186472852-186472853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191724428	chr2:186472929-186472930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568438998	chr2:186472937-186472938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535888235	chr2:186472946-186472947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531825517	chr2:186472977-186472978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371409571	chr2:186472988-186472989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539695482	chr2:186473030-186473031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374672678	chr2:186473131-186473132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555777112	chr2:186473168-186473169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545358690	chr2:186473170-186473171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184629579	chr2:186473238-186473239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35051316	chr2:186473323-186473324	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs189051139	chr2:186473391-186473392	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs73033642	chr2:186473415-186473416	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs35289321	chr2:186473429-186473430	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs541156405	chr2:186473434-186473435	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs371006003	chr2:186473462-186473463	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs141173929	chr2:186473470-186473471	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs60332173	chr2:186473479-186473480	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs376781859	chr2:186473483-186473484	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs563098288	chr2:186473504-186473505	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs143455659	chr2:186473509-186473510	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs182046734	chr2:186473547-186473548	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs564356227	chr2:186473566-186473567	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs578034204	chr2:186473601-186473602	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs528321491	chr2:186473619-186473620	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs546473141	chr2:186473688-186473689	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs28737389	chr2:186473772-186473773	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs146757555	chr2:186473776-186473777	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs12620350	chr2:186473840-186473841	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs187210116	chr2:186473957-186473958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190530175	chr2:186473995-186473996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539763116	chr2:186474048-186474049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563552398	chr2:186474065-186474066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180937857	chr2:186474076-186474077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566805047	chr2:186474078-186474079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534452547	chr2:186474124-186474125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572486610	chr2:186474237-186474238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544204883	chr2:186474241-186474242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367912933	chr2:186474296-186474297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186033062	chr2:186474329-186474330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555674571	chr2:186474344-186474345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533567841	chr2:186474405-186474406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114249105	chr2:186474504-186474505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140320812	chr2:186474509-186474510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557018186	chr2:186474517-186474518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575346139	chr2:186474735-186474736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190227201	chr2:186474811-186474812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564419661	chr2:186474826-186474827	Weak transcription	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
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
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
Ependymoma	20639864	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186468000-186473000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:186473000-186473600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:186473000-186473800	Enhancers	HMEC	breast
4	chr2:186473400-186473800	Enhancers	Fetal Kidney	kidney
5	chr2:186473600-186483400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:186473800-186475000	Weak transcription	HMEC	breast
7	chr2:186475000-186475400	Enhancers	HMEC	breast
8	chr2:186475000-186476200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:186475800-186476000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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