Variant report

Variant	nsv1001948
Chromosome Location	chr2:57846509-57901238
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:
2	chr2:57850261..57851990-chr2:57852642..57855006,2	K562	blood:

Extended variants
information (count: 1323 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1323 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182346227	chr2:57846528-57846529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564644902	chr2:57846536-57846537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs578053540	chr2:57846552-57846553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559133054	chr2:57846556-57846557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187099878	chr2:57846569-57846570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7564114	chr2:57846576-57846577	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs560572773	chr2:57846634-57846635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529267180	chr2:57846638-57846639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548891108	chr2:57846654-57846655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562423635	chr2:57846661-57846662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556002314	chr2:57846710-57846711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551183153	chr2:57846733-57846734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571306168	chr2:57846813-57846814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533896654	chr2:57846814-57846815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547174059	chr2:57846820-57846821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140215882	chr2:57846891-57846892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201628384	chr2:57846892-57846893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372272115	chr2:57846893-57846894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541476348	chr2:57846993-57846994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536238364	chr2:57847059-57847060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554033091	chr2:57847091-57847092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556161631	chr2:57847097-57847098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573628014	chr2:57847120-57847121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576031923	chr2:57847148-57847149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145327466	chr2:57847158-57847159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375957259	chr2:57847173-57847174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147667731	chr2:57847187-57847188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs578105106	chr2:57847229-57847230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540765925	chr2:57847261-57847262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560358602	chr2:57847273-57847274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190356756	chr2:57847289-57847290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115707886	chr2:57847294-57847295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562515720	chr2:57847353-57847354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531503859	chr2:57847366-57847367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551219904	chr2:57847383-57847384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574883619	chr2:57847395-57847396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565135689	chr2:57847432-57847433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183028444	chr2:57847457-57847458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547503928	chr2:57847506-57847507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567266531	chr2:57847527-57847528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188811419	chr2:57847529-57847530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192915728	chr2:57847535-57847536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs60295265	chr2:57847612-57847613	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs13001836	chr2:57847632-57847633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185494116	chr2:57847677-57847678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150216004	chr2:57847754-57847755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188856068	chr2:57847781-57847782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534113291	chr2:57847884-57847885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191228961	chr2:57847899-57847900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368949286	chr2:57847906-57847907	Enhancers 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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57846400-57846600	Enhancers	Fetal Thymus	thymus
2	chr2:57846600-57855400	Weak transcription	Fetal Thymus	thymus
3	chr2:57846800-57849600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:57848400-57848600	Enhancers	Brain Germinal Matrix	brain
5	chr2:57848400-57849600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:57848400-57850000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:57848800-57849800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:57848800-57850000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:57848800-57850000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:57848800-57850000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:57849000-57849800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:57849000-57850000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:57849200-57849400	Enhancers	Brain Germinal Matrix	brain
14	chr2:57849200-57849600	Enhancers	Fetal Heart	heart
15	chr2:57849600-57850600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:57849800-57850200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr2:57850000-57851800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:57850000-57851800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:57850600-57851400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:57851800-57852600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr2:57851800-57852600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:57855400-57855600	Enhancers	Fetal Thymus	thymus
23	chr2:57862800-57863000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:57863600-57863800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:57876600-57877000	Weak transcription	Thymus	Thymus
26	chr2:57877000-57877200	ZNF genes & repeats	Thymus	Thymus
27	chr2:57877200-57882000	Weak transcription	Thymus	Thymus
28	chr2:57877800-57878000	ZNF genes & repeats	Spleen	Spleen
29	chr2:57882000-57882400	ZNF genes & repeats	Thymus	Thymus
30	chr2:57882200-57883000	ZNF genes & repeats	Liver	Liver
31	chr2:57884000-57892600	Weak transcription	Fetal Thymus	thymus
32	chr2:57892600-57899200	Active TSS	Fetal Thymus	thymus
33	chr2:57892800-57895600	Active TSS	Thymus	Thymus
34	chr2:57895600-57899800	Weak transcription	Thymus	Thymus
35	chr2:57899200-57899400	Flanking Active TSS	Fetal Thymus	thymus
36	chr2:57899400-57899600	Active TSS	Fetal Thymus	thymus
37	chr2:57899600-57900000	Flanking Active TSS	Fetal Thymus	thymus
38	chr2:57899800-57900000	Enhancers	Thymus	Thymus
39	chr2:57900000-57900800	Enhancers	Fetal Thymus	thymus
40	chr2:57900000-57901400	Weak transcription	Thymus	Thymus
41	chr2:57900800-57901400	Weak transcription	Fetal Thymus	thymus

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