Variant report

Variant	nsv1001091
Chromosome Location	chr2:34169351-34211554
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	chr2:34160770..34163344-chr2:34168919..34171059,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-1	chr2:34169495-34169620	ENSG00000203386
2	lnc-RASGRP3-1	chr2:34169495-34169620	ENSG00000203386

Extended variants
information (count: 63 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570756542	chr2:34169536-34169537	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs145100011	chr2:34169551-34169552	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs542528369	chr2:34169597-34169598	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs13427776	chr2:34169616-34169617	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs61455409	chr2:34183602-34183603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200093379	chr2:34183603-34183604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572377686	chr2:34183604-34183605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147872509	chr2:34183605-34183606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12611527	chr2:34183606-34183607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs151065710	chr2:34183685-34183686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367954350	chr2:34183706-34183707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544079015	chr2:34183754-34183755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs13421785	chr2:34183756-34183757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577013687	chr2:34183793-34183794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140787292	chr2:34183803-34183804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572874986	chr2:34183806-34183807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1559645	chr2:34183840-34183841	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs75853933	chr2:34183852-34183853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562060623	chr2:34183858-34183859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111525078	chr2:34183881-34183882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377308528	chr2:34183957-34183958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs13408551	chr2:34183962-34183963	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs528539245	chr2:34183963-34183964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570267570	chr2:34183970-34183971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144839940	chr2:34183981-34183982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79048794	chr2:34183982-34183983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566028453	chr2:34183987-34183988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147926207	chr2:34184006-34184007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554665267	chr2:34184010-34184011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185835053	chr2:34184022-34184023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537692192	chr2:34184030-34184031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557607955	chr2:34184051-34184052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577476857	chr2:34184065-34184066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72783226	chr2:34184083-34184084	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs141889940	chr2:34184101-34184102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560166218	chr2:34184102-34184103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373353877	chr2:34184170-34184171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75382295	chr2:34184174-34184175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569902868	chr2:34184189-34184190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35687904	chr2:34208608-34208609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114141969	chr2:34208624-34208625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183953835	chr2:34208631-34208632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546854912	chr2:34208635-34208636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144802437	chr2:34208637-34208638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535639671	chr2:34208697-34208698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7561099	chr2:34208720-34208721	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs73926826	chr2:34208726-34208727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78783673	chr2:34208805-34208806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7561205	chr2:34208809-34208810	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs577148429	chr2:34208816-34208817	Enhancers	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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34183600-34184200	Enhancers	Fetal Brain Female	brain
2	chr2:34208600-34209200	Enhancers	Fetal Brain Male	brain

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