Variant report

Variant	nsv582057
Chromosome Location	chr2:56816986-56854346
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	chr2:56812542..56814077-chr2:56817593..56819138,2	MCF-7	breast:

Extended variants
information (count: 684 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:684 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17268945	chr2:56816986-56816987	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11902572	chr2:56817101-56817102	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs533171090	chr2:56817127-56817128	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs193247124	chr2:56817132-56817133	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs560477300	chr2:56817143-56817144	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs10490412	chr2:56817148-56817149	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs548738869	chr2:56817181-56817182	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs568913750	chr2:56817186-56817187	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs116473274	chr2:56817194-56817195	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs564688594	chr2:56817256-56817257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs17048223	chr2:56817290-56817291	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs185749202	chr2:56817295-56817296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149490370	chr2:56817302-56817303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546878070	chr2:56817348-56817349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575628396	chr2:56817383-56817384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566856294	chr2:56817435-56817436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535433459	chr2:56817446-56817447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78552631	chr2:56817451-56817452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77243862	chr2:56817452-56817453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555445827	chr2:56817502-56817503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72805182	chr2:56817506-56817507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572298362	chr2:56817507-56817508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537912100	chr2:56817524-56817525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564479454	chr2:56817559-56817560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533271897	chr2:56817599-56817600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs367853970	chr2:56817601-56817602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558235221	chr2:56817624-56817625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78879127	chr2:56817679-56817680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75334984	chr2:56817684-56817685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188083492	chr2:56817721-56817722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7593494	chr2:56817726-56817727	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs143055720	chr2:56817730-56817731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371974504	chr2:56817764-56817765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531348948	chr2:56817766-56817767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551145318	chr2:56817769-56817770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12477994	chr2:56817791-56817792	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs148196664	chr2:56817806-56817807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141146506	chr2:56817811-56817812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191334984	chr2:56817845-56817846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535738228	chr2:56817857-56817858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369785294	chr2:56817874-56817875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549660450	chr2:56817886-56817887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183868020	chr2:56817919-56817920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs17048231	chr2:56817927-56817928	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs557961804	chr2:56817930-56817931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116194564	chr2:56817966-56817967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188549196	chr2:56817970-56817971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566217975	chr2:56817987-56817988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553973140	chr2:56818061-56818062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533954268	chr2:56818072-56818073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Breast cancer	22522925	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56814800-56818000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:56815800-56817000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr2:56816200-56817800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:56816600-56817200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:56816600-56817200	Active TSS	Small Intestine	intestine
6	chr2:56817000-56817800	Enhancers	Adipose Nuclei	Adipose
7	chr2:56817200-56820000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:56817800-56820200	Weak transcription	Adipose Nuclei	Adipose
9	chr2:56817800-56820400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:56818000-56818200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:56820000-56820200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:56820200-56820800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:56820200-56821000	Enhancers	Adipose Nuclei	Adipose
14	chr2:56820400-56820800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:56820400-56820800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:56820400-56820800	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr2:56820600-56820800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:56820800-56821000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:56821000-56822200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:56821000-56822200	Weak transcription	Adipose Nuclei	Adipose
21	chr2:56822200-56822400	Enhancers	Adipose Nuclei	Adipose
22	chr2:56822200-56823200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:56833400-56833600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:56835600-56835800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:56836200-56837400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:56837200-56837600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:56837400-56838200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:56837600-56838000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr2:56837600-56838400	Enhancers	HSMM	muscle
30	chr2:56838200-56840800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:56838400-56840600	Weak transcription	HSMM	muscle
32	chr2:56840600-56841600	Enhancers	HSMM	muscle
33	chr2:56840800-56841600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr2:56841400-56841600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:56841600-56842600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:56842600-56843000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:56842800-56843600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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