Variant report

Variant	nsv524959
Chromosome Location	chr2:213468813-213472634
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	chr2:213470074..213472529-chr2:213472625..213475028,3	MCF-7	breast:
2	chr2:213470074..213472529-chr2:213472625..213475028,3	MCF-7	breast:

Extended variants
information (count: 148 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7558191	chr2:213468813-213468814	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144581846	chr2:213468820-213468821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528821908	chr2:213468841-213468842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182845405	chr2:213468850-213468851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556374526	chr2:213468858-213468859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548579484	chr2:213468860-213468861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539215266	chr2:213468901-213468902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554379426	chr2:213468921-213468922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572693791	chr2:213468941-213468942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543302151	chr2:213468996-213468997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148457898	chr2:213469026-213469027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567288744	chr2:213469034-213469035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573553773	chr2:213469058-213469059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188332824	chr2:213469100-213469101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142591469	chr2:213469106-213469107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577344658	chr2:213469108-213469109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs118161740	chr2:213469113-213469114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147614270	chr2:213469193-213469194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527488646	chr2:213469321-213469322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75426490	chr2:213469330-213469331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535861789	chr2:213469352-213469353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192776902	chr2:213469353-213469354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185209125	chr2:213469388-213469389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141688433	chr2:213469393-213469394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531591894	chr2:213469394-213469395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374753290	chr2:213469417-213469418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116733346	chr2:213469464-213469465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145434366	chr2:213469492-213469493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539099483	chr2:213469493-213469494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11688976	chr2:213469506-213469507	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs77870862	chr2:213469534-213469535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73080838	chr2:213469538-213469539	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs554951812	chr2:213469551-213469552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576705304	chr2:213469553-213469554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190185279	chr2:213469564-213469565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140921985	chr2:213469588-213469589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150275932	chr2:213469606-213469607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577229816	chr2:213469609-213469610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544659528	chr2:213469676-213469677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10186885	chr2:213469677-213469678	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs138923926	chr2:213469689-213469690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542842430	chr2:213469777-213469778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561002977	chr2:213469786-213469787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531607093	chr2:213469848-213469849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549823765	chr2:213469852-213469853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565238087	chr2:213469893-213469894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532553684	chr2:213469901-213469902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551779673	chr2:213469924-213469925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547907607	chr2:213469941-213469942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115338459	chr2:213470008-213470009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213462600-213483200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:213469200-213469600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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