Variant report

Variant	nsv516330
Chromosome Location	chr2:40576347-40579948
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 192 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13430329	chr2:40576347-40576348	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185579651	chr2:40576365-40576366	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs190186233	chr2:40576440-40576441	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs552218485	chr2:40576460-40576461	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs76713328	chr2:40576506-40576507	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs560853055	chr2:40576507-40576508	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs13031441	chr2:40576527-40576528	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs146781162	chr2:40576534-40576535	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs73929425	chr2:40576537-40576538	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs563909784	chr2:40576542-40576543	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs547387052	chr2:40576554-40576555	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs528271052	chr2:40576570-40576571	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs35442673	chr2:40576586-40576587	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs565840019	chr2:40576620-40576621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549859908	chr2:40576626-40576627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182759238	chr2:40576632-40576633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536918295	chr2:40576658-40576659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150407669	chr2:40576660-40576661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138193231	chr2:40576670-40576671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539723859	chr2:40576682-40576683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74520415	chr2:40576683-40576684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76216188	chr2:40576729-40576730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187400123	chr2:40576740-40576741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs13031340	chr2:40576747-40576748	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs573618364	chr2:40576788-40576789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190701024	chr2:40576793-40576794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560457286	chr2:40576885-40576886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537635050	chr2:40576953-40576954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78417167	chr2:40576958-40576959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546078086	chr2:40576978-40576979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570346215	chr2:40576987-40576988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374581560	chr2:40577078-40577079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537707212	chr2:40577083-40577084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12611602	chr2:40577125-40577126	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs184246778	chr2:40577137-40577138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12611608	chr2:40577162-40577163	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs568556168	chr2:40577172-40577173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529340970	chr2:40577188-40577189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149588802	chr2:40577217-40577218	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370438938	chr2:40577240-40577241	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79503852	chr2:40577290-40577291	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574597991	chr2:40577305-40577306	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12987979	chr2:40577329-40577330	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs558082556	chr2:40577330-40577331	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563377763	chr2:40577349-40577350	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6708799	chr2:40577359-40577360	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs555032710	chr2:40577370-40577371	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573706805	chr2:40577375-40577376	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534403114	chr2:40577399-40577400	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187573840	chr2:40577400-40577401	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40543200-40578800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:40552800-40590600	Weak transcription	Fetal Kidney	kidney
3	chr2:40560200-40579000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:40570400-40576800	Enhancers	NHDF-Ad	bronchial
5	chr2:40571000-40577000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:40571400-40576800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:40571600-40582600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:40573200-40577000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:40573400-40576800	Enhancers	NHLF	lung
10	chr2:40573400-40577200	Enhancers	HSMM	muscle
11	chr2:40573600-40576800	Enhancers	NH-A	brain
12	chr2:40574000-40579600	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:40574600-40576800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:40574600-40576800	Enhancers	Osteobl	bone
15	chr2:40574600-40579400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:40574600-40579600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:40574600-40580000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:40574600-40580000	Weak transcription	Left Ventricle	heart
19	chr2:40574600-40586000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:40574600-40590600	Weak transcription	Aorta	Aorta
21	chr2:40574800-40576800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:40574800-40579600	Weak transcription	Dnd41	blood
23	chr2:40575200-40576600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:40575600-40576400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:40575600-40576600	Enhancers	HSMMtube	muscle
26	chr2:40575600-40576800	Enhancers	HMEC	breast
27	chr2:40575800-40576400	Enhancers	Right Ventricle	heart
28	chr2:40575800-40576600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:40576000-40576600	Weak transcription	Ovary	ovary
30	chr2:40576000-40576600	Weak transcription	Right Atrium	heart
31	chr2:40576000-40578400	Weak transcription	Hela-S3	cervix
32	chr2:40576000-40579800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:40576000-40579800	Weak transcription	Adipose Nuclei	Adipose
34	chr2:40576200-40576600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr2:40576200-40576800	Enhancers	Fetal Heart	heart
36	chr2:40576200-40578800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr2:40576400-40578800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:40576400-40579800	Weak transcription	Right Ventricle	heart
39	chr2:40576600-40576800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr2:40576600-40576800	Enhancers	Ovary	ovary
41	chr2:40576600-40576800	Enhancers	Right Atrium	heart
42	chr2:40576600-40578800	Weak transcription	HSMMtube	muscle
43	chr2:40576600-40579200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:40576800-40578400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr2:40576800-40578400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:40576800-40578400	Weak transcription	NHDF-Ad	bronchial
47	chr2:40576800-40578600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:40576800-40578600	Weak transcription	Fetal Heart	heart
49	chr2:40576800-40578600	Weak transcription	Osteobl	bone
50	chr2:40576800-40578800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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