Variant report

Variant	nsv213366
Chromosome Location	chr2:47013868-47015334
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370596385	chr2:47013868-47013869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7423028	chr2:47013872-47013873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562130962	chr2:47013878-47013879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374310948	chr2:47013883-47013884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201682006	chr2:47013891-47013892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558996233	chr2:47013892-47013893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199592575	chr2:47013899-47013900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11684193	chr2:47013939-47013940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs546627087	chr2:47013994-47013995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536585503	chr2:47013995-47013996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189085498	chr2:47013996-47013997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs59504281	chr2:47014041-47014042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183173876	chr2:47014055-47014056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576478038	chr2:47014073-47014074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537068384	chr2:47014167-47014168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113044892	chr2:47014240-47014241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371243807	chr2:47014247-47014248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577339207	chr2:47014287-47014288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140986348	chr2:47014288-47014289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541613259	chr2:47014322-47014323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150205897	chr2:47014344-47014345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574774577	chr2:47014384-47014385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542142768	chr2:47014402-47014403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192019813	chr2:47014426-47014427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531300942	chr2:47014445-47014446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534913398	chr2:47014464-47014465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34606703	chr2:47014522-47014523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs184085279	chr2:47014551-47014552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574534632	chr2:47014574-47014575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547604732	chr2:47014582-47014583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7606976	chr2:47014615-47014616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs189665132	chr2:47014618-47014619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111619514	chr2:47014629-47014630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76584498	chr2:47014630-47014631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569977177	chr2:47014652-47014653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563367742	chr2:47014670-47014671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7568137	chr2:47014686-47014687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs545527079	chr2:47014742-47014743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58200475	chr2:47014797-47014798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs570917799	chr2:47014809-47014810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534837680	chr2:47014814-47014815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553127168	chr2:47014829-47014830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181143482	chr2:47014930-47014931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542032858	chr2:47014931-47014932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142906664	chr2:47014945-47014946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76049540	chr2:47014960-47014961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113023521	chr2:47014961-47014962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75078399	chr2:47014974-47014975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79675266	chr2:47014975-47014976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147001951	chr2:47015071-47015072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Breast cancer	17603634	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47008200-47021000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:47009800-47025200	Weak transcription	Right Ventricle	heart
3	chr2:47010000-47015000	Weak transcription	Psoas Muscle	Psoas
4	chr2:47014200-47014400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:47014400-47015800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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