Variant report

Variant	esv3444907
Chromosome Location	chr2:231113316-231117894
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	chr2:231112287..231114146-chr2:231116342..231119362,3	MCF-7	breast:
2	chr2:231112287..231114146-chr2:231116342..231119362,3	MCF-7	breast:

Extended variants
information (count: 203 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371612694	chr2:231113330-231113331	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547254450	chr2:231113336-231113337	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531838006	chr2:231113344-231113345	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550320657	chr2:231113347-231113348	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568077281	chr2:231113350-231113351	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1863678	chr2:231113352-231113353	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112767877	chr2:231113378-231113379	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1863677	chr2:231113405-231113406	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs116631275	chr2:231113421-231113422	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557797162	chr2:231113434-231113435	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74551082	chr2:231113445-231113446	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377647269	chr2:231113475-231113476	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117591156	chr2:231113477-231113478	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574991663	chr2:231113479-231113480	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369683893	chr2:231113487-231113488	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113244513	chr2:231113497-231113498	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13426106	chr2:231113499-231113500	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs568957474	chr2:231113552-231113553	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572504532	chr2:231113557-231113558	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185671957	chr2:231113561-231113562	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201540175	chr2:231113568-231113569	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199664604	chr2:231113585-231113586	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371239898	chr2:231113616-231113617	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374284504	chr2:231113618-231113619	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377653296	chr2:231113632-231113633	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1051410	chr2:231113654-231113655	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370863803	chr2:231113671-231113672	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189035556	chr2:231113726-231113727	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375167921	chr2:231113743-231113744	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529436528	chr2:231113754-231113755	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547124781	chr2:231113770-231113771	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141451533	chr2:231113777-231113778	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532788468	chr2:231113797-231113798	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537838194	chr2:231113817-231113818	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551323703	chr2:231113880-231113881	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs3813466	chr2:231113910-231113911	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs192978940	chr2:231113911-231113912	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs3813467	chr2:231113912-231113913	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184370249	chr2:231113934-231113935	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376393026	chr2:231113947-231113948	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs3813468	chr2:231113949-231113950	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs188676884	chr2:231113956-231113957	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150880977	chr2:231113966-231113967	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111894230	chr2:231114002-231114003	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181162202	chr2:231114017-231114018	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372463619	chr2:231114061-231114062	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138495778	chr2:231114065-231114066	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576665754	chr2:231114078-231114079	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544142740	chr2:231114079-231114080	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77796050	chr2:231114085-231114086	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
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
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
Breast cancer	22522925	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231090200-231170000	Weak transcription	Spleen	Spleen
2	chr2:231092600-231118400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:231099400-231118000	Weak transcription	Primary T cells from cord blood	blood
4	chr2:231100800-231114200	Strong transcription	GM12878-XiMat	blood
5	chr2:231101200-231114600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:231101200-231115000	Strong transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:231101800-231121600	Strong transcription	Primary B cells from peripheral blood	blood
8	chr2:231103200-231118200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:231103800-231118200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr2:231104000-231117000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:231107600-231117600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:231107600-231119600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:231109000-231117000	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:231109000-231118800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:231109200-231115000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:231109400-231116000	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr2:231109600-231114600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:231109600-231120800	Strong transcription	Primary B cells from cord blood	blood
19	chr2:231111200-231113400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr2:231112600-231113800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:231112600-231115800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:231113800-231115400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:231114200-231118200	Weak transcription	GM12878-XiMat	blood
24	chr2:231114600-231116600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:231114600-231116800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:231115000-231117000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr2:231115000-231118800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr2:231115400-231118000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr2:231115800-231116400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:231116000-231118000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr2:231116400-231118000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:231116600-231120600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:231116800-231119200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:231117000-231118000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr2:231117000-231118800	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr2:231117000-231119400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:231117600-231119600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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