Variant report

Variant	nsv581982
Chromosome Location	chr2:53256694-53295106
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1185 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1185 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1446445	chr2:53256694-53256695	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185736098	chr2:53256716-53256717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200559655	chr2:53256742-53256743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542208685	chr2:53256743-53256744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555990066	chr2:53256751-53256752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543799750	chr2:53256756-53256757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1446446	chr2:53256768-53256769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563341879	chr2:53256769-53256770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532121334	chr2:53256770-53256771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545765386	chr2:53256781-53256782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11900517	chr2:53256806-53256807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs528384026	chr2:53256828-53256829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189814631	chr2:53256849-53256850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568023287	chr2:53256861-53256862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530592552	chr2:53256871-53256872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565088584	chr2:53256897-53256898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377018645	chr2:53256899-53256900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186322107	chr2:53256918-53256919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188779618	chr2:53256947-53256948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553331229	chr2:53257010-53257011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566796470	chr2:53257015-53257016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78477940	chr2:53257022-53257023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541590873	chr2:53257023-53257024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1446447	chr2:53257035-53257036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs181341170	chr2:53257041-53257042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369110861	chr2:53257046-53257047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544780637	chr2:53257082-53257083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541472911	chr2:53257112-53257113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548704637	chr2:53257202-53257203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576847819	chr2:53257208-53257209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185166211	chr2:53257209-53257210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559291155	chr2:53257239-53257240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531326781	chr2:53257262-53257263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572708364	chr2:53257269-53257270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541426943	chr2:53257272-53257273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149787730	chr2:53257278-53257279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575439197	chr2:53257303-53257304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146813083	chr2:53257306-53257307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551736921	chr2:53257330-53257331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550339748	chr2:53257357-53257358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564173581	chr2:53257365-53257366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533459902	chr2:53257369-53257370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs367878787	chr2:53257434-53257435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546741135	chr2:53257462-53257463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566961137	chr2:53257469-53257470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73932067	chr2:53257491-53257492	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs140636505	chr2:53257492-53257493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114518549	chr2:53257559-53257560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189872912	chr2:53257572-53257573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144191858	chr2:53257590-53257591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	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
Myelofibrosis	22110671	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53254400-53260000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:53255800-53260200	Weak transcription	Osteobl	bone
3	chr2:53255800-53260400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:53255800-53271400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:53256200-53257200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:53256200-53257200	Weak transcription	Adipose Nuclei	Adipose
7	chr2:53256200-53259800	Weak transcription	NHDF-Ad	bronchial
8	chr2:53256200-53260200	Weak transcription	HSMMtube	muscle
9	chr2:53256400-53260200	Weak transcription	NHLF	lung
10	chr2:53256600-53257400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:53256600-53260600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:53257200-53257400	Enhancers	Adipose Nuclei	Adipose
13	chr2:53257200-53258000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:53257400-53257600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:53257400-53262800	Weak transcription	Adipose Nuclei	Adipose
16	chr2:53258000-53259800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:53259800-53261200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:53259800-53261400	Enhancers	NHDF-Ad	bronchial
19	chr2:53260000-53260800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:53260000-53263800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:53260200-53260400	Enhancers	Osteobl	bone
22	chr2:53260200-53260600	Enhancers	HSMMtube	muscle
23	chr2:53260200-53261200	Enhancers	NHLF	lung
24	chr2:53260400-53260800	Weak transcription	Osteobl	bone
25	chr2:53260400-53261000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr2:53260400-53261200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:53260600-53260800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
28	chr2:53260600-53261200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:53260800-53261200	Enhancers	Osteobl	bone
30	chr2:53261000-53261200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
31	chr2:53261000-53261200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
32	chr2:53261000-53262000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr2:53261200-53263400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:53261200-53263600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:53261200-53263600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:53262000-53262600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr2:53262000-53263000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr2:53262000-53263800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr2:53262200-53263000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:53262400-53263400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr2:53262400-53263400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr2:53262600-53263800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
43	chr2:53262800-53263800	Enhancers	Adipose Nuclei	Adipose
44	chr2:53263200-53263400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
45	chr2:53263200-53263800	Enhancers	A549	lung
46	chr2:53263400-53263600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
47	chr2:53263400-53263800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
48	chr2:53263400-53263800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
49	chr2:53263400-53263800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:53263400-53264000	Enhancers	Hela-S3	cervix

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