Variant report

Variant	esv3347364
Chromosome Location	chr2:11186701-11188599
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11183075..11185679-chr2:11187212..11189599,2	K562	blood:
2	chr2:11049867..11053292-chr2:11184248..11187361,3	MCF-7	breast:
3	chr2:11179228..11182108-chr2:11185674..11188009,2	K562	blood:

Variant related genes	Relation type
ENSG00000162975	chromatin interactions

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

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565562398	chr2:11186777-11186778	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs186886771	chr2:11186826-11186827	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551150593	chr2:11186862-11186863	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs190762436	chr2:11186887-11186888	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs552496054	chr2:11186902-11186903	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs530585391	chr2:11186922-11186923	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs143268517	chr2:11186959-11186960	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs183261974	chr2:11186974-11186975	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs146254608	chr2:11187055-11187056	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs76694888	chr2:11187061-11187062	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs548628958	chr2:11187185-11187186	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs114299318	chr2:11187194-11187195	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs2084926	chr2:11187243-11187244	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs2084925	chr2:11187259-11187260	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs115341112	chr2:11187291-11187292	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs538560989	chr2:11187337-11187338	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs557080224	chr2:11187364-11187365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71392280	chr2:11187411-11187412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs68123200	chr2:11187421-11187422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201343239	chr2:11187423-11187424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75292009	chr2:11187428-11187429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370546578	chr2:11187444-11187445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369510332	chr2:11187445-11187446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200844233	chr2:11187458-11187459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10929712	chr2:11187476-11187477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs536724120	chr2:11187481-11187482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2084924	chr2:11187512-11187513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs573409308	chr2:11187541-11187542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs36160094	chr2:11187548-11187549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113837883	chr2:11187562-11187563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs36165964	chr2:11187570-11187571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565324285	chr2:11187571-11187572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375219149	chr2:11187581-11187582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150407129	chr2:11187592-11187593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs70953358	chr2:11187601-11187602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs60400297	chr2:11187753-11187754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577418266	chr2:11187764-11187765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544586402	chr2:11187799-11187800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187972985	chr2:11187810-11187811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570313329	chr2:11187818-11187819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530250497	chr2:11187855-11187856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145060216	chr2:11187864-11187865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368102731	chr2:11187954-11187955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533840157	chr2:11188022-11188023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77647396	chr2:11188099-11188100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546143990	chr2:11188169-11188170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72783429	chr2:11188174-11188175	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs538892472	chr2:11188215-11188216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34662707	chr2:11188225-11188226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10168758	chr2:11188257-11188258	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11183800-11188800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:11184200-11187800	Weak transcription	Fetal Brain Male	brain
3	chr2:11187800-11188000	Enhancers	Fetal Brain Male	brain
4	chr2:11188000-11188800	Weak transcription	Fetal Brain Male	brain

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