Variant report

Variant	esv21309
Chromosome Location	chr2:9864151-9865416
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	chr2:9854729..9857337-chr2:9862471..9865403,2	K562	blood:
2	chr2:9841151..9843890-chr2:9865033..9866985,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73152935	chr2:9864157-9864158	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150517355	chr2:9864170-9864171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73152940	chr2:9864182-9864183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs563380987	chr2:9864202-9864203	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs532348438	chr2:9864207-9864208	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs73152941	chr2:9864220-9864221	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs559046119	chr2:9864223-9864224	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs139508728	chr2:9864225-9864226	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs73913179	chr2:9864307-9864308	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs571398851	chr2:9864312-9864313	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs118046039	chr2:9864326-9864327	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs377450563	chr2:9864331-9864332	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs536590763	chr2:9864335-9864336	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs73152943	chr2:9864349-9864350	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs537157209	chr2:9864367-9864368	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs570108941	chr2:9864391-9864392	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs11695437	chr2:9864392-9864393	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs146725632	chr2:9864418-9864419	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs377318405	chr2:9864429-9864430	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs534998214	chr2:9864460-9864461	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs567759359	chr2:9864492-9864493	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs555030022	chr2:9864498-9864499	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs73152945	chr2:9864501-9864502	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs543390634	chr2:9864541-9864542	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs372647225	chr2:9864558-9864559	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs576938121	chr2:9864568-9864569	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs189959556	chr2:9864579-9864580	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs192657737	chr2:9864588-9864589	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs184743150	chr2:9864687-9864688	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140345025	chr2:9864697-9864698	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561570639	chr2:9864713-9864714	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188236767	chr2:9864726-9864727	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550159473	chr2:9864739-9864740	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113683238	chr2:9864766-9864767	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111738807	chr2:9864771-9864772	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116389828	chr2:9864783-9864784	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114447480	chr2:9864796-9864797	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs180677980	chr2:9864878-9864879	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73152946	chr2:9864881-9864882	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs144129861	chr2:9864889-9864890	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76698717	chr2:9864892-9864893	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76901261	chr2:9864920-9864921	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556945316	chr2:9864945-9864946	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186287030	chr2:9864976-9864977	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545572295	chr2:9864979-9864980	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552795717	chr2:9864980-9864981	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572595589	chr2:9864989-9864990	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376033973	chr2:9865004-9865005	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs561824354	chr2:9865043-9865044	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs73152947	chr2:9865047-9865048	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

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
Neuroblastoma	18923524	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9861800-9864200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:9864200-9865000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:9864600-9865200	Enhancers	Esophagus	oesophagus
4	chr2:9865000-9865200	Bivalent Enhancer	HepG2	liver
5	chr2:9865200-9865400	Flanking Bivalent TSS/Enh	HepG2	liver
6	chr2:9865200-9865600	Enhancers	Duodenum Mucosa	Duodenum
7	chr2:9865200-9868200	Weak transcription	Esophagus	oesophagus
8	chr2:9865400-9865600	Bivalent Enhancer	HepG2	liver

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