Variant report

Variant	esv1000974
Chromosome Location	chr2:34521305-34530041
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	chr2:34520994..34523413-chr2:34524356..34526580,2	MCF-7	breast:
2	chr2:34520994..34523413-chr2:34524356..34526580,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-1	chr2:34522535-34522820	ENSG00000203386

Extended variants
information (count: 43 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71325788	chr2:34522535-34522536	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs557440588	chr2:34522545-34522546	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs570880822	chr2:34522575-34522576	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs539562692	chr2:34522576-34522577	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs138950112	chr2:34522577-34522578	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs142287354	chr2:34522582-34522583	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs190442181	chr2:34522586-34522587	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs536509890	chr2:34522587-34522588	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs555224982	chr2:34522607-34522608	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs575190735	chr2:34522646-34522647	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs554573860	chr2:34522660-34522661	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs543801451	chr2:34522662-34522663	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs144836494	chr2:34522670-34522671	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs148573139	chr2:34522674-34522675	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs249098	chr2:34522689-34522690	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs560222425	chr2:34522695-34522696	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs528663677	chr2:34522715-34522716	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs543046308	chr2:34522716-34522717	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs573781278	chr2:34522727-34522728	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs531236984	chr2:34522750-34522751	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs550956047	chr2:34522760-34522761	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs570776041	chr2:34522761-34522762	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs7563515	chr2:34522776-34522777	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs193223467	chr2:34522781-34522782	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs566986753	chr2:34522783-34522784	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs535259994	chr2:34522809-34522810	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs7592195	chr2:34528345-34528346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs180935749	chr2:34528371-34528372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72786805	chr2:34528373-34528374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148134354	chr2:34528401-34528402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7592495	chr2:34528416-34528417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530800719	chr2:34528462-34528463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572696030	chr2:34528466-34528467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142026391	chr2:34528492-34528493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538045481	chr2:34528494-34528495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539933822	chr2:34528497-34528498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546357685	chr2:34528513-34528514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566353401	chr2:34528529-34528530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535297303	chr2:34528530-34528531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190249778	chr2:34528576-34528577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116887563	chr2:34528585-34528586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537440492	chr2:34528586-34528587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs117348818	chr2:34528590-34528591	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	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
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34528200-34528600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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