Variant report

Variant	nsv581930
Chromosome Location	chr2:52645704-52674746
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1358 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1358 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7586951	chr2:52645704-52645705	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547600264	chr2:52645729-52645730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114378850	chr2:52645730-52645731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376670868	chr2:52645781-52645782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548840804	chr2:52645787-52645788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147836427	chr2:52645806-52645807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568774407	chr2:52645858-52645859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148877714	chr2:52645873-52645874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568826384	chr2:52645879-52645880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553037471	chr2:52645900-52645901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560737253	chr2:52645939-52645940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537491820	chr2:52645941-52645942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551657169	chr2:52645983-52645984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2552330	chr2:52645997-52645998	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs535946304	chr2:52645999-52646000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555651992	chr2:52646011-52646012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372318803	chr2:52646013-52646014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369130119	chr2:52646026-52646027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575808750	chr2:52646044-52646045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544557807	chr2:52646045-52646046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192051139	chr2:52646083-52646084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576899330	chr2:52646095-52646096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183656461	chr2:52646105-52646106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12476881	chr2:52646125-52646126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs79688279	chr2:52646168-52646169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573785222	chr2:52646169-52646170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541923111	chr2:52646216-52646217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561702779	chr2:52646239-52646240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546078178	chr2:52646247-52646248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397832628	chr2:52646249-52646250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs80345473	chr2:52646270-52646271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75700750	chr2:52646271-52646272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs5831214	chr2:52646272-52646273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78716590	chr2:52646274-52646275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1918082	chr2:52646277-52646278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557147470	chr2:52646285-52646286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575709457	chr2:52646310-52646311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368705870	chr2:52646334-52646335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13399394	chr2:52646336-52646337	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs533063367	chr2:52646354-52646355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74454267	chr2:52646390-52646391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545950598	chr2:52646393-52646394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1272717	chr2:52646427-52646428	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143530454	chr2:52646432-52646433	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1262247	chr2:52646472-52646473	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569336873	chr2:52646483-52646484	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79097955	chr2:52646489-52646490	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113377050	chr2:52646618-52646619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187647602	chr2:52646670-52646671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71411588	chr2:52646676-52646677	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:85)

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
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52642000-52646000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:52644000-52647000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:52645200-52646000	Enhancers	Liver	Liver
4	chr2:52646400-52646600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr2:52647000-52647600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
6	chr2:52647600-52650600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:52648000-52648400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:52650200-52651000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:52650200-52651200	Enhancers	Hela-S3	cervix
10	chr2:52650200-52651400	Enhancers	Liver	Liver
11	chr2:52650600-52651200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:52650600-52651200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:52650600-52651400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:52650800-52651200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:52650800-52651400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:52651000-52651400	Enhancers	Fetal Intestine Small	intestine
17	chr2:52651200-52655200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:52651200-52655200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:52651200-52655400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:52651200-52656200	Weak transcription	Hela-S3	cervix
21	chr2:52651400-52653000	Weak transcription	Liver	Liver
22	chr2:52651400-52655400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:52653000-52653600	Enhancers	Liver	Liver
24	chr2:52653600-52656800	Weak transcription	Liver	Liver
25	chr2:52655200-52655800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr2:52655200-52655800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:52655200-52655800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr2:52655400-52655600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:52655400-52655600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:52655400-52655600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:52655400-52656000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:52655400-52656000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr2:52655400-52657400	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr2:52655400-52658200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:52655600-52656200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:52655600-52657200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:52655600-52658400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:52655600-52659000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:52655800-52657600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:52655800-52658200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:52655800-52659200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr2:52656000-52667200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr2:52656200-52658000	Enhancers	Primary hematopoietic stem cells	blood
44	chr2:52656200-52658000	Enhancers	Hela-S3	cervix
45	chr2:52656800-52657000	Enhancers	Fetal Intestine Large	intestine
46	chr2:52656800-52657600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:52656800-52658400	Enhancers	Liver	Liver
48	chr2:52657000-52657600	Enhancers	Adipose Nuclei	Adipose
49	chr2:52657000-52657800	Weak transcription	Fetal Intestine Large	intestine
50	chr2:52657200-52657600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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