Variant report

Variant	esv3392480
Chromosome Location	chr2:36832085-36832563
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:36832279..36835040-chr2:36835404..36839522,4	K562	blood:
2	chr2:36822925..36827633-chr2:36831305..36836913,8	MCF-7	breast:
3	chr2:36832118..36833779-chr2:36837070..36839522,2	K562	blood:
4	chr2:36823117..36826552-chr2:36831110..36836877,7	MCF-7	breast:
5	chr2:36823490..36825133-chr2:36832447..36835155,2	K562	blood:

Variant related genes	Relation type
ENSG00000171055	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536977285	chr2:36832103-36832104	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs200525872	chr2:36832105-36832106	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs548864392	chr2:36832112-36832113	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs188784428	chr2:36832179-36832180	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs534345416	chr2:36832184-36832185	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs565838692	chr2:36832203-36832204	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs577707869	chr2:36832214-36832215	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs147838439	chr2:36832222-36832223	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs181937067	chr2:36832239-36832240	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs574878635	chr2:36832261-36832262	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs542528898	chr2:36832285-36832286	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs560822872	chr2:36832315-36832316	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs529959439	chr2:36832325-36832326	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572709296	chr2:36832396-36832397	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs547997272	chr2:36832476-36832477	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs141437654	chr2:36832496-36832497	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs6756508	chr2:36832512-36832513	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs150360872	chr2:36832559-36832560	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs563302497	chr2:36832562-36832563	Enhancers	Chromatin interactive region	1 gene(s)	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
T-cell prolymphocytic leukemia	19278963	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
Autism	22495311	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	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	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	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36832200-36832800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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