Variant report

Variant	esv3380952
Chromosome Location	chr2:186815657-186819755
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	chr2:186819232..186820505-chr2:187121247..187122132,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZSWIM2-4	chr2:186817485-186817647	XLOC_002427

Extended variants
information (count: 165 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187389439	chr2:186815699-186815700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199722661	chr2:186815740-186815741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs151152968	chr2:186815743-186815744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199799643	chr2:186815751-186815752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201137935	chr2:186815752-186815753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374808825	chr2:186815762-186815763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs60474676	chr2:186815763-186815764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371519217	chr2:186815764-186815765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549638901	chr2:186815793-186815794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377428960	chr2:186815806-186815807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12986746	chr2:186815889-186815890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145826077	chr2:186815978-186815979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563038399	chr2:186815982-186815983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192576332	chr2:186816028-186816029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576598930	chr2:186816030-186816031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564010638	chr2:186816068-186816069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528383538	chr2:186816084-186816085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13011098	chr2:186816159-186816160	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs567965607	chr2:186816164-186816165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201134512	chr2:186816177-186816178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10931214	chr2:186816204-186816205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs569003844	chr2:186816280-186816281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183289670	chr2:186816322-186816323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200620136	chr2:186816365-186816366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143947933	chr2:186816366-186816367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376500900	chr2:186816367-186816368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201837038	chr2:186816393-186816394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186904830	chr2:186816424-186816425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149050611	chr2:186816431-186816432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534229285	chr2:186816448-186816449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192666512	chr2:186816470-186816471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10803999	chr2:186816561-186816562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs10931215	chr2:186816582-186816583	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs562818630	chr2:186816585-186816586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373924587	chr2:186816597-186816598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577736952	chr2:186816603-186816604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10804000	chr2:186816607-186816608	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs528761556	chr2:186816662-186816663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76950942	chr2:186816672-186816673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184942912	chr2:186816716-186816717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531080795	chr2:186816725-186816726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78332863	chr2:186816751-186816752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563946592	chr2:186816754-186816755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35692188	chr2:186816764-186816765	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs546573210	chr2:186816770-186816771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562050610	chr2:186816784-186816785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143072783	chr2:186816785-186816786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528863954	chr2:186816801-186816802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189835572	chr2:186816826-186816827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34713864	chr2:186816853-186816854	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:49)

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

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186809800-186816800	Weak transcription	Fetal Intestine Large	intestine
2	chr2:186810200-186828000	Weak transcription	Ovary	ovary
3	chr2:186815000-186827800	Weak transcription	Aorta	Aorta
4	chr2:186815600-186833800	Weak transcription	Left Ventricle	heart
5	chr2:186816600-186817000	Enhancers	Hela-S3	cervix

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