Variant report

Variant	nsv581920
Chromosome Location	chr2:52182477-52227824
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:50763606..50764181-chr2:52224822..52225393,2	MCF-7	breast:
2	chr2:50973459..50974271-chr2:52224493..52225477,4	MCF-7	breast:

Extended variants
information (count: 1012 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1012 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1550100	chr2:52182477-52182478	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555056182	chr2:52182540-52182541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576412949	chr2:52182558-52182559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527999599	chr2:52182564-52182565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6759448	chr2:52182629-52182630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs139241345	chr2:52182645-52182646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532305807	chr2:52182685-52182686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550941842	chr2:52182689-52182690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186977167	chr2:52182750-52182751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150019169	chr2:52182766-52182767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200051551	chr2:52182774-52182775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529914288	chr2:52182805-52182806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191396841	chr2:52182818-52182819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181423554	chr2:52182855-52182856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563396528	chr2:52183031-52183032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73930619	chr2:52183042-52183043	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs552240343	chr2:52183053-52183054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114204006	chr2:52183124-52183125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534574693	chr2:52183151-52183152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548128982	chr2:52183176-52183177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566338318	chr2:52183180-52183181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74487830	chr2:52183205-52183206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554861608	chr2:52183215-52183216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114599931	chr2:52183228-52183229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537135364	chr2:52183320-52183321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558556455	chr2:52183335-52183336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140063142	chr2:52183351-52183352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540993366	chr2:52183376-52183377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116523863	chr2:52183383-52183384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574596249	chr2:52183390-52183391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546982805	chr2:52183391-52183392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377632606	chr2:52183394-52183395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10460547	chr2:52183474-52183475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs185217999	chr2:52183478-52183479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552325414	chr2:52183491-52183492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114566296	chr2:52183501-52183502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375860778	chr2:52183532-52183533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528105565	chr2:52183556-52183557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189923007	chr2:52183563-52183564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546572929	chr2:52183589-52183590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368690392	chr2:52183625-52183626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372099633	chr2:52183631-52183632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539329374	chr2:52183632-52183633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559247770	chr2:52183634-52183635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566410253	chr2:52183635-52183636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183262033	chr2:52183639-52183640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187924366	chr2:52183662-52183663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570127315	chr2:52183667-52183668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548932295	chr2:52183672-52183673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115171368	chr2:52183727-52183728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
small cell lung cancer	20016488	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
Bipolar disorder	19114987	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52182000-52186400	Weak transcription	NHDF-Ad	bronchial
2	chr2:52182200-52182600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:52182600-52186200	Weak transcription	Osteobl	bone
4	chr2:52186200-52188400	Enhancers	Osteobl	bone
5	chr2:52186400-52186600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:52186400-52188400	Enhancers	NHDF-Ad	bronchial
7	chr2:52186600-52187200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:52187200-52188400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:52187200-52188400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:52187400-52188200	Enhancers	NH-A	brain
11	chr2:52188000-52188400	Enhancers	HMEC	breast
12	chr2:52188400-52192200	Weak transcription	Osteobl	bone
13	chr2:52192200-52192600	Enhancers	Osteobl	bone
14	chr2:52192200-52192800	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr2:52203000-52204400	Enhancers	Hela-S3	cervix
16	chr2:52203800-52204200	Enhancers	Osteobl	bone
17	chr2:52206600-52207000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:52207000-52207400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:52209000-52209400	Active TSS	A549	lung
20	chr2:52214000-52214400	Enhancers	Fetal Brain Male	brain
21	chr2:52217800-52218000	Enhancers	Left Ventricle	heart
22	chr2:52217800-52218600	Enhancers	Fetal Heart	heart
23	chr2:52218000-52225800	Weak transcription	Left Ventricle	heart
24	chr2:52218600-52220800	Weak transcription	Fetal Heart	heart
25	chr2:52220800-52222400	Enhancers	NHDF-Ad	bronchial
26	chr2:52220800-52222800	Enhancers	Fetal Heart	heart
27	chr2:52221000-52222400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:52221000-52222600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:52221000-52222600	Enhancers	NHLF	lung
30	chr2:52221000-52222800	Enhancers	NH-A	brain
31	chr2:52221000-52222800	Enhancers	Osteobl	bone
32	chr2:52221200-52221400	Enhancers	Fetal Brain Male	brain
33	chr2:52221200-52222200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:52221200-52222400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:52221200-52222400	Enhancers	Hela-S3	cervix
36	chr2:52221400-52222400	Weak transcription	Fetal Brain Male	brain
37	chr2:52221400-52224200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:52221600-52222400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr2:52221600-52222800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr2:52221800-52223800	Enhancers	HUVEC	blood vessel
41	chr2:52222200-52222600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr2:52222200-52223800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:52222400-52222600	Enhancers	Fetal Brain Male	brain
44	chr2:52222400-52223600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:52222400-52223600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:52222400-52223600	Weak transcription	NHDF-Ad	bronchial
47	chr2:52222400-52225400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:52222600-52223600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:52222600-52223800	Weak transcription	NHLF	lung
50	chr2:52222800-52223200	Weak transcription	NH-A	brain

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