Variant report

Variant	nsv819764
Chromosome Location	chr2:56145169-56145354
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	chr2:56143080..56147077-chr2:56148041..56151714,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115380	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55849640	chr2:56145171-56145172	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs138017183	chr2:56145179-56145180	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs143480857	chr2:56145202-56145203	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs200948195	chr2:56145212-56145213	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs192212457	chr2:56145215-56145216	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs376100057	chr2:56145227-56145228	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs184278097	chr2:56145237-56145238	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs536588198	chr2:56145240-56145241	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs188700239	chr2:56145268-56145269	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs10496056	chr2:56145270-56145271	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs377415219	chr2:56145299-56145300	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs368635447	chr2:56145304-56145305	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs200302823	chr2:56145306-56145307	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs375472885	chr2:56145313-56145314	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs368526452	chr2:56145351-56145352	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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	17122850	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56129200-56150200	Weak transcription	Pancreas	Pancrea
2	chr2:56132000-56149000	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:56135200-56146600	Weak transcription	Brain Anterior Caudate	brain
4	chr2:56136600-56145800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:56137400-56149400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:56138800-56146400	Weak transcription	A549	lung
7	chr2:56138800-56149600	Transcr. at gene 5' and 3'	HUVEC	blood vessel
8	chr2:56141800-56146200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:56142200-56149800	Weak transcription	Gastric	stomach
10	chr2:56142400-56149400	Weak transcription	Right Ventricle	heart
11	chr2:56142600-56149200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:56142800-56146000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:56143000-56145800	Strong transcription	NHEK	skin
14	chr2:56143400-56149000	Weak transcription	Fetal Kidney	kidney
15	chr2:56143600-56145200	Genic enhancers	Adipose Nuclei	Adipose
16	chr2:56143600-56147200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:56143600-56147600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:56143600-56148000	Strong transcription	HMEC	breast
19	chr2:56143800-56145200	Genic enhancers	Aorta	Aorta
20	chr2:56143800-56145600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:56143800-56148600	Weak transcription	Right Atrium	heart
22	chr2:56143800-56150400	Weak transcription	Spleen	Spleen
23	chr2:56144000-56145200	Genic enhancers	Osteobl	bone
24	chr2:56144000-56146200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:56144000-56149800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:56144200-56145200	Strong transcription	NH-A	brain
27	chr2:56144200-56145800	Strong transcription	Placenta Amnion	Placenta Amnion
28	chr2:56144200-56147000	Weak transcription	HSMM	muscle
29	chr2:56144200-56148400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:56144200-56149000	Weak transcription	Fetal Lung	lung
31	chr2:56144400-56145200	Genic enhancers	Lung	lung
32	chr2:56144600-56147600	Enhancers	Placenta	Placenta
33	chr2:56144800-56145400	Strong transcription	NHLF	lung
34	chr2:56144800-56149600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:56145000-56145200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:56145000-56149000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:56145000-56149000	Weak transcription	Ovary	ovary
38	chr2:56145000-56149000	Weak transcription	HSMMtube	muscle
39	chr2:56145000-56149400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:56145000-56149400	Weak transcription	Fetal Stomach	stomach
41	chr2:56145200-56145400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:56145200-56145400	Strong transcription	Adipose Nuclei	Adipose
43	chr2:56145200-56145600	Transcr. at gene 5' and 3'	Osteobl	bone
44	chr2:56145200-56147400	Weak transcription	Aorta	Aorta
45	chr2:56145200-56149000	Weak transcription	NH-A	brain
46	chr2:56145200-56149400	Weak transcription	Lung	lung

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