Variant report

Variant	nsv961719
Chromosome Location	chr2:56770663-56775534
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	chr2:56773723..56776584-chr8:126325913..126327457,2	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76151292	chr2:56770697-56770698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576114731	chr2:56770714-56770715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545140620	chr2:56770753-56770754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182946363	chr2:56770754-56770755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527498152	chr2:56770755-56770756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10202374	chr2:56770758-56770759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs146601626	chr2:56770767-56770768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115388671	chr2:56770774-56770775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146503558	chr2:56770836-56770837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373061034	chr2:56770840-56770841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1156672	chr2:56770848-56770849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs569708610	chr2:56770857-56770858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79493621	chr2:56770863-56770864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552301171	chr2:56770872-56770873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1156671	chr2:56770889-56770890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs373430629	chr2:56770962-56770963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573351600	chr2:56770984-56770985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141061401	chr2:56770999-56771000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143121112	chr2:56771003-56771004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570405954	chr2:56771061-56771062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556129937	chr2:56771063-56771064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528106881	chr2:56771069-56771070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534853628	chr2:56771072-56771073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187639690	chr2:56771089-56771090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58711470	chr2:56771108-56771109	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs148334712	chr2:56771122-56771123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561168628	chr2:56771166-56771167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529935349	chr2:56771185-56771186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543783331	chr2:56771198-56771199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs57190241	chr2:56771232-56771233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs193256739	chr2:56771263-56771264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13022482	chr2:56771296-56771297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13022487	chr2:56771306-56771307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17039629	chr2:56771307-56771308	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs75818252	chr2:56771315-56771316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546663818	chr2:56771318-56771319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs17190394	chr2:56771330-56771331	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs13022505	chr2:56771342-56771343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141478218	chr2:56771357-56771358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576475658	chr2:56771382-56771383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536545722	chr2:56771389-56771390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556446137	chr2:56771402-56771403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545371626	chr2:56771424-56771425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569677043	chr2:56771436-56771437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10181815	chr2:56771485-56771486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs558226796	chr2:56771512-56771513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575459787	chr2:56771521-56771522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182393425	chr2:56771526-56771527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572430909	chr2:56771554-56771555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559054578	chr2:56771555-56771556	Weak transcription	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56768800-56771600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:56771600-56772000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links