Variant report

Variant	nsv582065
Chromosome Location	chr2:57385309-57397423
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	chr2:57395336..57397407-chr2:57403214..57404804,2	MCF-7	breast:

Extended variants
information (count: 246 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:246 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12713333	chr2:57385309-57385310	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532039780	chr2:57385358-57385359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552092443	chr2:57385361-57385362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114462436	chr2:57385366-57385367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17048697	chr2:57385399-57385400	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs77963556	chr2:57387633-57387634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs398060209	chr2:57387636-57387637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543753236	chr2:57387655-57387656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs71393562	chr2:57387713-57387714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369011200	chr2:57387714-57387715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557522097	chr2:57387718-57387719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577375470	chr2:57387767-57387768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371005958	chr2:57387778-57387779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17048702	chr2:57387779-57387780	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs559607813	chr2:57387783-57387784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528620573	chr2:57387789-57387790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532985868	chr2:57387790-57387791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188745733	chr2:57387798-57387799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562109832	chr2:57387813-57387814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530814981	chr2:57387815-57387816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550901058	chr2:57387830-57387831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570577816	chr2:57387847-57387848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141445678	chr2:57387850-57387851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs966115	chr2:57387855-57387856	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs546643361	chr2:57387874-57387875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566431777	chr2:57387875-57387876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs117922491	chr2:57387898-57387899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554942167	chr2:57387966-57387967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568555166	chr2:57387984-57387985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537308660	chr2:57388001-57388002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557374651	chr2:57388035-57388036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566242976	chr2:57388042-57388043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113411560	chr2:57388046-57388047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112855359	chr2:57388101-57388102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs966116	chr2:57388104-57388105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs193034062	chr2:57388124-57388125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115832318	chr2:57388195-57388196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542381191	chr2:57388220-57388221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528850512	chr2:57388246-57388247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76518777	chr2:57388256-57388257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544131227	chr2:57388257-57388258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs117328720	chr2:57388318-57388319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544464404	chr2:57388343-57388344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7562542	chr2:57388379-57388380	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs185173439	chr2:57388383-57388384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546458779	chr2:57388423-57388424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200224382	chr2:57388442-57388443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190618822	chr2:57388460-57388461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369294725	chr2:57388466-57388467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372932268	chr2:57388475-57388476	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57385000-57385400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr2:57387600-57389600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr2:57388000-57389400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:57389400-57390400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:57390400-57392000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:57395400-57396200	Enhancers	Muscle Satellite Cultured Cells	--

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