Variant report

Variant	nsv1009574
Chromosome Location	chr2:40219238-40245464
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1556 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1556 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80053257	chr2:40219244-40219245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573731399	chr2:40219254-40219255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185557189	chr2:40219282-40219283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61604673	chr2:40219312-40219313	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs533109068	chr2:40219316-40219317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145050008	chr2:40219322-40219323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7557819	chr2:40219384-40219385	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs530612033	chr2:40219387-40219388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549060200	chr2:40219399-40219400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562794595	chr2:40219422-40219423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567373564	chr2:40219432-40219433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114445718	chr2:40219456-40219457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147579600	chr2:40219469-40219470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566350777	chr2:40219475-40219476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575381527	chr2:40219505-40219506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545796526	chr2:40219513-40219514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539775883	chr2:40219517-40219518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557728810	chr2:40219523-40219524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576071118	chr2:40219547-40219548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10708885	chr2:40219554-40219555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144141820	chr2:40219560-40219561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141217627	chr2:40219561-40219562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143804673	chr2:40219562-40219563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537048785	chr2:40219618-40219619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377218346	chr2:40219696-40219697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369817875	chr2:40219702-40219703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115108907	chr2:40219704-40219705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190210482	chr2:40219721-40219722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574063872	chr2:40219722-40219723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560710409	chr2:40219723-40219724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373089212	chr2:40219742-40219743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200044554	chr2:40219752-40219753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7558203	chr2:40219786-40219787	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs376785211	chr2:40219808-40219809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371144318	chr2:40219810-40219811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201854913	chr2:40219811-40219812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577865463	chr2:40219849-40219850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545360361	chr2:40219901-40219902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76995330	chr2:40219907-40219908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530181439	chr2:40219911-40219912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548253517	chr2:40219929-40219930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145501796	chr2:40219941-40219942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181481484	chr2:40220008-40220009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560932067	chr2:40220019-40220020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs137886730	chr2:40220053-40220054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547951454	chr2:40220054-40220055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531099057	chr2:40220068-40220069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145376659	chr2:40220077-40220078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533669943	chr2:40220098-40220099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs57163850	chr2:40220105-40220106	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:59)

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

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40217200-40219400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:40217400-40219400	Enhancers	HSMM	muscle
3	chr2:40217800-40219400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:40218000-40219400	Enhancers	NHDF-Ad	bronchial
5	chr2:40218200-40221000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:40218200-40222600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:40218400-40225200	Weak transcription	Fetal Kidney	kidney
8	chr2:40218600-40220000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:40219000-40220800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:40219000-40223600	Weak transcription	HSMMtube	muscle
11	chr2:40219000-40223800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:40219200-40221000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:40219200-40224400	Weak transcription	Osteobl	bone
14	chr2:40219400-40221000	Weak transcription	NHDF-Ad	bronchial
15	chr2:40219400-40221400	Weak transcription	HSMM	muscle
16	chr2:40219400-40221600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:40220600-40220800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:40220600-40221000	Weak transcription	NHEK	skin
19	chr2:40220800-40221400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:40220800-40225000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:40220800-40225200	Enhancers	HMEC	breast
22	chr2:40221000-40221200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:40221000-40221400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:40221000-40221800	Enhancers	NHDF-Ad	bronchial
25	chr2:40221000-40222000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:40221000-40225000	Enhancers	NHEK	skin
27	chr2:40221200-40221600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:40221400-40221800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:40221400-40222000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:40221400-40225000	Enhancers	HSMM	muscle
31	chr2:40221400-40225200	Enhancers	Dnd41	blood
32	chr2:40221600-40221800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:40221600-40221800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:40221600-40221800	Enhancers	NH-A	brain
35	chr2:40221800-40222000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:40221800-40223600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:40222000-40222400	Enhancers	Fetal Thymus	thymus
38	chr2:40222000-40223200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr2:40222000-40224000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:40222000-40224200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:40222200-40223000	Enhancers	Placenta Amnion	Placenta Amnion
42	chr2:40222400-40223400	Weak transcription	Fetal Thymus	thymus
43	chr2:40222600-40223200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:40222800-40224600	Enhancers	Hela-S3	cervix
45	chr2:40223200-40223600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:40223200-40224600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr2:40223400-40223800	Enhancers	Fetal Thymus	thymus
48	chr2:40223600-40223800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:40223600-40224000	Enhancers	HSMMtube	muscle
50	chr2:40223600-40224200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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