Variant report

Variant	esv3435402
Chromosome Location	chr2:231113733-231117319
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: 142 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375167921	chr2:231113743-231113744	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529436528	chr2:231113754-231113755	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547124781	chr2:231113770-231113771	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141451533	chr2:231113777-231113778	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532788468	chr2:231113797-231113798	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537838194	chr2:231113817-231113818	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551323703	chr2:231113880-231113881	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs3813466	chr2:231113910-231113911	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs192978940	chr2:231113911-231113912	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs3813467	chr2:231113912-231113913	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184370249	chr2:231113934-231113935	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376393026	chr2:231113947-231113948	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs3813468	chr2:231113949-231113950	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs188676884	chr2:231113956-231113957	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150880977	chr2:231113966-231113967	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111894230	chr2:231114002-231114003	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181162202	chr2:231114017-231114018	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372463619	chr2:231114061-231114062	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138495778	chr2:231114065-231114066	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576665754	chr2:231114078-231114079	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544142740	chr2:231114079-231114080	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77796050	chr2:231114085-231114086	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529473679	chr2:231114103-231114104	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183849955	chr2:231114115-231114116	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12466328	chr2:231114123-231114124	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9989899	chr2:231114131-231114132	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs551095904	chr2:231114135-231114136	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563345277	chr2:231114136-231114137	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62193144	chr2:231114146-231114147	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9989808	chr2:231114180-231114181	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs531687451	chr2:231114213-231114214	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368281072	chr2:231114242-231114243	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4143559	chr2:231114339-231114340	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs2114588	chr2:231114453-231114454	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs2114589	chr2:231114483-231114484	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs189304841	chr2:231114488-231114489	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562044927	chr2:231114490-231114491	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566187208	chr2:231114591-231114592	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2114590	chr2:231114593-231114594	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs557967977	chr2:231114604-231114605	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576418115	chr2:231114648-231114649	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537027964	chr2:231114689-231114690	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555661774	chr2:231114704-231114705	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573959441	chr2:231114708-231114709	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541233768	chr2:231114719-231114720	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559471888	chr2:231114720-231114721	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs578106586	chr2:231114735-231114736	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139120802	chr2:231114743-231114744	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564128736	chr2:231114781-231114782	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563224256	chr2:231114797-231114798	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:35 , 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	chr2:231112600-231113800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:231112600-231115800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:231113800-231115400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:231114200-231118200	Weak transcription	GM12878-XiMat	blood
23	chr2:231114600-231116600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:231114600-231116800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:231115000-231117000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr2:231115000-231118800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr2:231115400-231118000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:231115800-231116400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:231116000-231118000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr2:231116400-231118000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:231116600-231120600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:231116800-231119200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:231117000-231118000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr2:231117000-231118800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr2:231117000-231119400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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