Variant report

Variant	nsv524338
Chromosome Location	chr2:57738482-57744319
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	chr2:56409714..56412670-chr2:57741960..57744837,3	MCF-7	breast:
2	chr2:56357220..56358069-chr2:57743520..57744164,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000055813	chromatin interactions
ENSG00000233251	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560377418	chr2:57742003-57742004	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs529090513	chr2:57742075-57742076	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs111752916	chr2:57742095-57742096	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs532444933	chr2:57742097-57742098	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs562255303	chr2:57742119-57742120	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs188538336	chr2:57742131-57742132	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs35704548	chr2:57742181-57742182	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs192292117	chr2:57742194-57742195	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs184022337	chr2:57742208-57742209	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs551380481	chr2:57742218-57742219	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs571184970	chr2:57742231-57742232	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs533768339	chr2:57742254-57742255	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs547018976	chr2:57742284-57742285	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs567151466	chr2:57742367-57742368	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs536058043	chr2:57742393-57742394	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs555955330	chr2:57742401-57742402	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs72946189	chr2:57742416-57742417	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs538312110	chr2:57742433-57742434	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs558208589	chr2:57742456-57742457	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs547374825	chr2:57742468-57742469	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs565866811	chr2:57742473-57742474	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs77819206	chr2:57742477-57742478	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs564940426	chr2:57742478-57742479	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs573561212	chr2:57742502-57742503	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs147845833	chr2:57742521-57742522	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs562316186	chr2:57742531-57742532	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs531381856	chr2:57742549-57742550	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs551222841	chr2:57742574-57742575	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs370057902	chr2:57742603-57742604	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs67843540	chr2:57742642-57742643	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs540171204	chr2:57742684-57742685	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs141466639	chr2:57742709-57742710	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs72946194	chr2:57742722-57742723	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs567179983	chr2:57742725-57742726	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs536121205	chr2:57742778-57742779	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs549619288	chr2:57742824-57742825	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs820968	chr2:57742834-57742835	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs538417085	chr2:57742856-57742857	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs529055072	chr2:57742867-57742868	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs558008775	chr2:57742925-57742926	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs578044538	chr2:57743103-57743104	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs373567870	chr2:57743148-57743149	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs556861822	chr2:57743166-57743167	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs549196678	chr2:57743226-57743227	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs13012852	chr2:57743264-57743265	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs187814961	chr2:57743265-57743266	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs73943514	chr2:57743293-57743294	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs542542973	chr2:57743318-57743319	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs562427659	chr2:57743324-57743325	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs35646137	chr2:57743325-57743326	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57743600-57744000	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr2:57743600-57744000	Active TSS	Brain Anterior Caudate	brain
3	chr2:57743600-57744400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:57743600-57744400	Active TSS	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links