Variant report

Variant	esv2547602
Chromosome Location	chr2:40976957-40978589
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539630783	chr2:40976968-40976969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557708903	chr2:40977000-40977001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181392276	chr2:40977013-40977014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186977674	chr2:40977048-40977049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144918869	chr2:40977077-40977078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573315547	chr2:40977088-40977089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540595554	chr2:40977092-40977093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368744872	chr2:40977126-40977127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373873663	chr2:40977134-40977135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560414522	chr2:40977142-40977143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528536259	chr2:40977163-40977164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377122970	chr2:40977192-40977193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12466363	chr2:40977216-40977217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs531920656	chr2:40977319-40977320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191863551	chr2:40977342-40977343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575685865	chr2:40977343-40977344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111288308	chr2:40977376-40977377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564615751	chr2:40977422-40977423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187538866	chr2:40977423-40977424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191131202	chr2:40977428-40977429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182656703	chr2:40977440-40977441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138517968	chr2:40977469-40977470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12466466	chr2:40977474-40977475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs547197012	chr2:40977541-40977542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539398855	chr2:40977557-40977558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17026644	chr2:40977604-40977605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs529577508	chr2:40977655-40977656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187027903	chr2:40977670-40977671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35008334	chr2:40977701-40977702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191799324	chr2:40977745-40977746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141581155	chr2:40977754-40977755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12466571	chr2:40977786-40977787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs367764287	chr2:40977822-40977823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540631016	chr2:40977854-40977855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558962800	chr2:40977896-40977897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539035991	chr2:40977936-40977937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71441120	chr2:40977967-40977968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540234543	chr2:40977986-40977987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566680260	chr2:40977997-40977998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs36191525	chr2:40978051-40978052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184434300	chr2:40978053-40978054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13012187	chr2:40978146-40978147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13012391	chr2:40978177-40978178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188725576	chr2:40978191-40978192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531836067	chr2:40978193-40978194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4952648	chr2:40978200-40978201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193073729	chr2:40978204-40978205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562173207	chr2:40978233-40978234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529448742	chr2:40978250-40978251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4952426	chr2:40978268-40978269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
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
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40975000-40979000	Weak transcription	Muscle Satellite Cultured Cells	--

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