Variant report

Variant	esv3414312
Chromosome Location	chr2:186564235-186579049
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	chr2:186540633..186542551-chr2:186567883..186570534,2	MCF-7	breast:

Extended variants
information (count: 395 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528421566	chr2:186565637-186565638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539034996	chr2:186565643-186565644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546558711	chr2:186565676-186565677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561989083	chr2:186565677-186565678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557762166	chr2:186565686-186565687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576196851	chr2:186565714-186565715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529117478	chr2:186565718-186565719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550754212	chr2:186565746-186565747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375963616	chr2:186565751-186565752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116516553	chr2:186565772-186565773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369353278	chr2:186565783-186565784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539935491	chr2:186565861-186565862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372410957	chr2:186565866-186565867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551792838	chr2:186565889-186565890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140896997	chr2:186565905-186565906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186674586	chr2:186565939-186565940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34977367	chr2:186565952-186565953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35574569	chr2:186565962-186565963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190834670	chr2:186565968-186565969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374857177	chr2:186565987-186565988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375705427	chr2:186565990-186565991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10803992	chr2:186566024-186566025	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs573841144	chr2:186566031-186566032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181889121	chr2:186566094-186566095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532871278	chr2:186566095-186566096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10803993	chr2:186566115-186566116	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs376533161	chr2:186566141-186566142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150139171	chr2:186566147-186566148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533287956	chr2:186566251-186566252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377041151	chr2:186566283-186566284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186297364	chr2:186566299-186566300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575993005	chr2:186566316-186566317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529154648	chr2:186566378-186566379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544464971	chr2:186566393-186566394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189850416	chr2:186566397-186566398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138611118	chr2:186566402-186566403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10190576	chr2:186566595-186566596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs545070417	chr2:186566598-186566599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182159385	chr2:186566633-186566634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559470826	chr2:186566676-186566677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527698014	chr2:186566708-186566709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549315139	chr2:186566736-186566737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563381342	chr2:186566758-186566759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567668418	chr2:186566779-186566780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527581771	chr2:186566781-186566782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186615789	chr2:186566794-186566795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149365210	chr2:186566815-186566816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577859786	chr2:186566819-186566820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11686062	chr2:186566886-186566887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs539196438	chr2:186566901-186566902	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
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
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186565600-186566000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr2:186565600-186566200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:186565600-186603200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:186570000-186570400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr2:186574400-186574600	Enhancers	Brain Germinal Matrix	brain
6	chr2:186574400-186574600	Enhancers	Left Ventricle	heart
7	chr2:186574800-186575800	Weak transcription	Brain Germinal Matrix	brain
8	chr2:186575800-186576200	Enhancers	Brain Germinal Matrix	brain

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