Variant report

Variant	esv2621130
Chromosome Location	chr2:21350288-21351601
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	chr2:21348742..21351585-chr2:21351799..21353530,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551321125	chr2:21350302-21350303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376218809	chr2:21350304-21350305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113042458	chr2:21350306-21350307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2115838	chr2:21350324-21350325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs529947156	chr2:21350340-21350341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2878956	chr2:21350346-21350347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs565068971	chr2:21350377-21350378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558104429	chr2:21350396-21350397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149813609	chr2:21350418-21350419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530761938	chr2:21350454-21350455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537708680	chr2:21350473-21350474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562594346	chr2:21350485-21350486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566510627	chr2:21350523-21350524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374484220	chr2:21350556-21350557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373461378	chr2:21350631-21350632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573875471	chr2:21350685-21350686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530532986	chr2:21350696-21350697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542348693	chr2:21350733-21350734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74582026	chr2:21350741-21350742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570556246	chr2:21350814-21350815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552276808	chr2:21350818-21350819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572578384	chr2:21350837-21350838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544684591	chr2:21350977-21350978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564858577	chr2:21351002-21351003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530756147	chr2:21351006-21351007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544489092	chr2:21351070-21351071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561092707	chr2:21351091-21351092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532924625	chr2:21351116-21351117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568877629	chr2:21351142-21351143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546780668	chr2:21351144-21351145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537612430	chr2:21351161-21351162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551383679	chr2:21351176-21351177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376183503	chr2:21351198-21351199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371420716	chr2:21351233-21351234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528539070	chr2:21351234-21351235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190714988	chr2:21351275-21351276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs312963	chr2:21351281-21351282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs537373990	chr2:21351288-21351289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375322390	chr2:21351319-21351320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183261975	chr2:21351320-21351321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13423380	chr2:21351326-21351327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs536471153	chr2:21351358-21351359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552933191	chr2:21351360-21351361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572864143	chr2:21351395-21351396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188974278	chr2:21351396-21351397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558318458	chr2:21351415-21351416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575152833	chr2:21351444-21351445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572928714	chr2:21351478-21351479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372431662	chr2:21351489-21351490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375724059	chr2:21351490-21351491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	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
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21350000-21352000	Weak transcription	HepG2	liver

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