Variant report

Variant	esv1834409
Chromosome Location	chr2:36987780-36990958
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	chr2:36987514..36989270-chr2:36997117..36998900,2	K562	blood:
2	chr2:36983691..36986604-chr2:36986917..36989477,2	MCF-7	breast:

Extended variants
information (count: 148 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572413424	chr2:36987791-36987792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565555259	chr2:36987810-36987811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539846524	chr2:36987814-36987815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532634931	chr2:36987866-36987867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535773684	chr2:36987874-36987875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576851192	chr2:36987943-36987944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11902668	chr2:36987986-36987987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544125021	chr2:36988023-36988024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562173437	chr2:36988061-36988062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186801509	chr2:36988100-36988101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371736146	chr2:36988103-36988104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114692152	chr2:36988108-36988109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376104083	chr2:36988135-36988136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560214183	chr2:36988152-36988153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572176518	chr2:36988183-36988184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369165331	chr2:36988186-36988187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193016454	chr2:36988219-36988220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551764102	chr2:36988225-36988226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563729894	chr2:36988237-36988238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531544459	chr2:36988240-36988241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145620986	chr2:36988249-36988250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185742115	chr2:36988256-36988257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535652351	chr2:36988273-36988274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147721100	chr2:36988324-36988325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142586200	chr2:36988328-36988329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539933297	chr2:36988329-36988330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188253737	chr2:36988388-36988389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28537077	chr2:36988426-36988427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs537776776	chr2:36988473-36988474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541607279	chr2:36988510-36988511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561022793	chr2:36988512-36988513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574225247	chr2:36988514-36988515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541615398	chr2:36988555-36988556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559649661	chr2:36988577-36988578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571848910	chr2:36988597-36988598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373166739	chr2:36988610-36988611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146749666	chr2:36988612-36988613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563764703	chr2:36988617-36988618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531190089	chr2:36988650-36988651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs193191365	chr2:36988654-36988655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs151178751	chr2:36988658-36988659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371575479	chr2:36988659-36988660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529136952	chr2:36988703-36988704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547613427	chr2:36988708-36988709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565736626	chr2:36988715-36988716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11124539	chr2:36988728-36988729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs11124540	chr2:36988739-36988740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs570131025	chr2:36988740-36988741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181220537	chr2:36988743-36988744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369997635	chr2:36988767-36988768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	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
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	22737080	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36971400-36992600	Weak transcription	Ovary	ovary
2	chr2:36971600-36992600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:36980000-36989800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:36982200-36989400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:36982800-36996400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:36983800-36989400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:36984000-36988000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:36984000-36989800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:36984400-36987800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:36987000-36992200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:36987600-36988000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:36987800-36988200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:36987800-36988200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:36987800-36988200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:36988000-36993000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:36989000-36989200	Bivalent Enhancer	HepG2	liver
17	chr2:36989400-36990200	Enhancers	HSMMtube	muscle
18	chr2:36989400-36990400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:36989400-36990600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:36989600-36990400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:36989800-36990400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr2:36989800-36990600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr2:36990000-36990200	Active TSS	HSMM	muscle
24	chr2:36990200-36990400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
25	chr2:36990200-36990400	Flanking Active TSS	HSMM	muscle
26	chr2:36990200-36990600	Flanking Active TSS	HSMMtube	muscle
27	chr2:36990600-36990800	Enhancers	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links