Variant report

Variant	nsv1010397
Chromosome Location	chr2:57852806-57910513
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	chr2:57850261..57851990-chr2:57852642..57855006,2	K562	blood:

Extended variants
information (count: 1460 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1460 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562217919	chr2:57852839-57852840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575817812	chr2:57852858-57852859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183488585	chr2:57852920-57852921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564552334	chr2:57852955-57852956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188976071	chr2:57853017-57853018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369517305	chr2:57853026-57853027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373560547	chr2:57853033-57853034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369190445	chr2:57853047-57853048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546909910	chr2:57853059-57853060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377471141	chr2:57853109-57853110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370885457	chr2:57853150-57853151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12993481	chr2:57853160-57853161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529126284	chr2:57853168-57853169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192696854	chr2:57853192-57853193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539492849	chr2:57853207-57853208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113763216	chr2:57853259-57853260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56877716	chr2:57853284-57853285	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs199608646	chr2:57853323-57853324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138107236	chr2:57853324-57853325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182183361	chr2:57853386-57853387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35138300	chr2:57853394-57853395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186500183	chr2:57853402-57853403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373543433	chr2:57853404-57853405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113343127	chr2:57853405-57853406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558803991	chr2:57853436-57853437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533537766	chr2:57853440-57853441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191294101	chr2:57853487-57853488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573581215	chr2:57853497-57853498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536116982	chr2:57853529-57853530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2695593	chr2:57853544-57853545	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs375261453	chr2:57853609-57853610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144488231	chr2:57853626-57853627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373950229	chr2:57853629-57853630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs58752320	chr2:57853645-57853646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574629262	chr2:57853646-57853647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs386390261	chr2:57853647-57853648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143238931	chr2:57853652-57853653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12053055	chr2:57853653-57853654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs148718937	chr2:57853654-57853655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11125723	chr2:57853681-57853682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs545009934	chr2:57853730-57853731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6741362	chr2:57853754-57853755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563287295	chr2:57853770-57853771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142752962	chr2:57853777-57853778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6726391	chr2:57853783-57853784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs551921751	chr2:57853786-57853787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548853911	chr2:57853810-57853811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10192382	chr2:57853813-57853814	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs145049072	chr2:57853819-57853820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147096069	chr2:57853820-57853821	Weak transcription	n/a	n/a	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57846600-57855400	Weak transcription	Fetal Thymus	thymus
2	chr2:57855400-57855600	Enhancers	Fetal Thymus	thymus
3	chr2:57862800-57863000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:57863600-57863800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:57876600-57877000	Weak transcription	Thymus	Thymus
6	chr2:57877000-57877200	ZNF genes & repeats	Thymus	Thymus
7	chr2:57877200-57882000	Weak transcription	Thymus	Thymus
8	chr2:57877800-57878000	ZNF genes & repeats	Spleen	Spleen
9	chr2:57882000-57882400	ZNF genes & repeats	Thymus	Thymus
10	chr2:57882200-57883000	ZNF genes & repeats	Liver	Liver
11	chr2:57884000-57892600	Weak transcription	Fetal Thymus	thymus
12	chr2:57892600-57899200	Active TSS	Fetal Thymus	thymus
13	chr2:57892800-57895600	Active TSS	Thymus	Thymus
14	chr2:57895600-57899800	Weak transcription	Thymus	Thymus
15	chr2:57899200-57899400	Flanking Active TSS	Fetal Thymus	thymus
16	chr2:57899400-57899600	Active TSS	Fetal Thymus	thymus
17	chr2:57899600-57900000	Flanking Active TSS	Fetal Thymus	thymus
18	chr2:57899800-57900000	Enhancers	Thymus	Thymus
19	chr2:57900000-57900800	Enhancers	Fetal Thymus	thymus
20	chr2:57900000-57901400	Weak transcription	Thymus	Thymus
21	chr2:57900800-57901400	Weak transcription	Fetal Thymus	thymus
22	chr2:57901400-57901800	Active TSS	Thymus	Thymus
23	chr2:57901400-57902000	Active TSS	Fetal Thymus	thymus
24	chr2:57901400-57902200	Enhancers	Primary T cells from cord blood	blood
25	chr2:57901800-57902400	Enhancers	Thymus	Thymus
26	chr2:57902000-57902400	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
27	chr2:57902400-57902600	Genic enhancers	Fetal Thymus	thymus
28	chr2:57902400-57908800	Weak transcription	Thymus	Thymus
29	chr2:57902600-57904200	Weak transcription	Fetal Thymus	thymus
30	chr2:57904200-57904600	Strong transcription	Fetal Thymus	thymus
31	chr2:57904600-57908600	Weak transcription	Fetal Thymus	thymus
32	chr2:57908600-57909600	Strong transcription	Fetal Thymus	thymus
33	chr2:57908800-57909000	Enhancers	Thymus	Thymus
34	chr2:57909000-57912000	Weak transcription	Thymus	Thymus
35	chr2:57909600-57910600	Genic enhancers	Fetal Thymus	thymus
36	chr2:57910000-57912600	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links