Variant report

Variant	nsv581503
Chromosome Location	chr2:40417012-40430611
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:40419927..40421772-chr2:40425195..40428157,2	MCF-7	breast:
2	chr2:40419927..40421772-chr2:40425195..40428157,2	MCF-7	breast:
3	chr2:40427590..40429513-chr2:40436431..40438074,2	MCF-7	breast:
4	chr2:40430449..40432032-chr2:40434397..40435947,2	K562	blood:

Variant related genes	Relation type
ENSG00000227028	chromatin interactions

Extended variants
information (count: 568 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:568 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10490207	chr2:40417012-40417013	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181203148	chr2:40417049-40417050	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2033231	chr2:40417099-40417100	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs574500266	chr2:40417105-40417106	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62148765	chr2:40417113-40417114	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs562574842	chr2:40417185-40417186	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189955408	chr2:40417189-40417190	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548321725	chr2:40417225-40417226	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142829313	chr2:40417228-40417229	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13384452	chr2:40417374-40417375	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs114021911	chr2:40417471-40417472	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570677341	chr2:40417486-40417487	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538169664	chr2:40417495-40417496	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546923830	chr2:40417551-40417552	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182194387	chr2:40417555-40417556	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374000965	chr2:40417567-40417568	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568312506	chr2:40417571-40417572	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186083396	chr2:40417595-40417596	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144591537	chr2:40417624-40417625	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536664067	chr2:40417634-40417635	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548570812	chr2:40417640-40417641	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs404667	chr2:40417752-40417753	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs572133171	chr2:40417756-40417757	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189374289	chr2:40417757-40417758	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116046125	chr2:40417788-40417789	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577347394	chr2:40417807-40417808	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542193536	chr2:40417838-40417839	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11884718	chr2:40417848-40417849	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs562837285	chr2:40417860-40417861	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530038854	chr2:40417874-40417875	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs180730547	chr2:40417887-40417888	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560229054	chr2:40417888-40417889	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530761321	chr2:40417923-40417924	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527757285	chr2:40417947-40417948	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34505025	chr2:40418009-40418010	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11884732	chr2:40418017-40418018	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs369450265	chr2:40418033-40418034	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs137934196	chr2:40418065-40418066	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534850381	chr2:40418074-40418075	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374411794	chr2:40418077-40418078	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570661320	chr2:40418081-40418082	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184985929	chr2:40418117-40418118	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34679586	chr2:40418126-40418127	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574764639	chr2:40418144-40418145	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550148542	chr2:40418199-40418200	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191154162	chr2:40418223-40418224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535454568	chr2:40418273-40418274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372524153	chr2:40418304-40418305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35746759	chr2:40418326-40418327	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs565655013	chr2:40418379-40418380	Enhancers Weak transcription	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
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:208 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40393000-40420000	Weak transcription	Fetal Kidney	kidney
2	chr2:40400600-40426800	Weak transcription	Osteobl	bone
3	chr2:40405400-40430000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:40405600-40421800	Weak transcription	Right Ventricle	heart
5	chr2:40407200-40419800	Weak transcription	HSMM	muscle
6	chr2:40411000-40424200	Weak transcription	HSMMtube	muscle
7	chr2:40412000-40421800	Weak transcription	Left Ventricle	heart
8	chr2:40413400-40417800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:40413400-40418000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:40414800-40417400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:40415400-40418800	Enhancers	Fetal Heart	heart
12	chr2:40416000-40425800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:40416400-40417400	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:40416600-40417400	Enhancers	Fetal Muscle Leg	muscle
15	chr2:40416800-40418200	Enhancers	Fetal Stomach	stomach
16	chr2:40416800-40418200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr2:40417200-40430400	Weak transcription	Aorta	Aorta
18	chr2:40417400-40417800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:40417400-40417800	Enhancers	Colon Smooth Muscle	Colon
20	chr2:40417400-40418000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr2:40417800-40418000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:40417800-40419200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr2:40417800-40424200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:40417800-40424400	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:40418000-40418200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr2:40418000-40418400	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr2:40418000-40418800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr2:40418200-40420000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:40418200-40447200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr2:40418400-40420400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr2:40418600-40445800	Weak transcription	Dnd41	blood
32	chr2:40418800-40419000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr2:40418800-40420200	Weak transcription	Fetal Heart	heart
34	chr2:40419200-40436600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:40419800-40420400	Enhancers	HSMM	muscle
36	chr2:40420000-40420400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:40420000-40420600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:40420000-40420600	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr2:40420000-40420600	Enhancers	NHLF	lung
40	chr2:40420000-40420800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:40420000-40420800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr2:40420000-40420800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:40420000-40420800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:40420000-40420800	Enhancers	HMEC	breast
45	chr2:40420000-40420800	Enhancers	NHEK	skin
46	chr2:40420000-40421000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:40420000-40421000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:40420000-40421000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:40420000-40421000	Enhancers	Fetal Kidney	kidney
50	chr2:40420000-40421000	Enhancers	Hela-S3	cervix

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