Variant report

Variant	nsv1000901
Chromosome Location	chr2:57151366-57193187
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183694686	chr2:57161642-57161643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs578023333	chr2:57161643-57161644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188273533	chr2:57161660-57161661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560347700	chr2:57161675-57161676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145465256	chr2:57161684-57161685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542939546	chr2:57161705-57161706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562531343	chr2:57161740-57161741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370629851	chr2:57161753-57161754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551329632	chr2:57161894-57161895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571259432	chr2:57161895-57161896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556780337	chr2:57161922-57161923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538748446	chr2:57161987-57161988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2865263	chr2:57162041-57162042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372826947	chr2:57162100-57162101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535776720	chr2:57162117-57162118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549398683	chr2:57162156-57162157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569497103	chr2:57162184-57162185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115749821	chr2:57162224-57162225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2865264	chr2:57162234-57162235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558083914	chr2:57162242-57162243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545549684	chr2:57162243-57162244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs578150648	chr2:57162296-57162297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370999360	chr2:57162383-57162384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534277379	chr2:57162387-57162388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554054839	chr2:57162394-57162395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553005098	chr2:57162431-57162432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573061099	chr2:57162458-57162459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541487100	chr2:57162487-57162488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561707790	chr2:57162504-57162505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114643197	chr2:57162528-57162529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542978182	chr2:57162584-57162585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376109999	chr2:57164420-57164421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370823068	chr2:57164421-57164422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs61075073	chr2:57164422-57164423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78363346	chr2:57164429-57164430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs397732944	chr2:57164442-57164443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574758310	chr2:57164460-57164461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4672173	chr2:57164498-57164499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528040572	chr2:57164501-57164502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114431544	chr2:57164551-57164552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561161409	chr2:57164558-57164559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4672174	chr2:57164586-57164587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77914642	chr2:57164613-57164614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540186534	chr2:57164628-57164629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs13396888	chr2:57164653-57164654	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs188665723	chr2:57164686-57164687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551996370	chr2:57164702-57164703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs57654746	chr2:57164707-57164708	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs193232466	chr2:57164716-57164717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542724884	chr2:57164728-57164729	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
Williams Syndrome	20824207	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57161600-57162600	Enhancers	Fetal Brain Female	brain
2	chr2:57162400-57162600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:57164400-57165000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:57164400-57165000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:57164400-57165000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:57165600-57166000	Enhancers	Fetal Brain Male	brain
7	chr2:57166800-57167000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:57191000-57191800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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