Variant report

Variant	nsv581921
Chromosome Location	chr2:52188631-52236955
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	chr2:50973459..50974271-chr2:52224493..52225477,4	MCF-7	breast:
2	chr2:50763606..50764181-chr2:52224822..52225393,2	MCF-7	breast:

Extended variants
information (count: 974 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:974 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs892911	chr2:52188631-52188632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370429293	chr2:52188653-52188654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190095361	chr2:52188678-52188679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553202215	chr2:52188681-52188682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565930523	chr2:52188682-52188683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574561702	chr2:52188714-52188715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541967843	chr2:52188745-52188746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563374436	chr2:52188789-52188790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192182148	chr2:52188809-52188810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530632134	chr2:52188810-52188811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374133044	chr2:52188819-52188820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545794873	chr2:52188893-52188894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113661892	chr2:52188903-52188904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149205231	chr2:52188920-52188921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547793139	chr2:52188933-52188934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370744798	chr2:52188941-52188942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142514361	chr2:52188951-52188952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147559121	chr2:52188953-52188954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200016737	chr2:52188955-52188956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562938510	chr2:52188965-52188966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs202107363	chr2:52188992-52188993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145847781	chr2:52188997-52188998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138861501	chr2:52189000-52189001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558554511	chr2:52189079-52189080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7567057	chr2:52189084-52189085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs549586075	chr2:52189093-52189094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534982696	chr2:52189102-52189103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183977611	chr2:52189110-52189111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11676807	chr2:52189118-52189119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs377487981	chr2:52189123-52189124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs59870638	chr2:52189137-52189138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541703526	chr2:52189140-52189141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371060496	chr2:52189147-52189148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188659059	chr2:52189196-52189197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59437730	chr2:52189203-52189204	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs149525963	chr2:52189206-52189207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs17042256	chr2:52189227-52189228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs71411567	chr2:52189248-52189249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528087302	chr2:52189250-52189251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540181301	chr2:52189251-52189252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74572199	chr2:52189257-52189258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368733791	chr2:52189270-52189271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75857627	chr2:52189273-52189274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548407132	chr2:52189305-52189306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181403586	chr2:52189308-52189309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530978601	chr2:52189320-52189321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552265917	chr2:52189321-52189322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570884823	chr2:52189354-52189355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534711666	chr2:52189387-52189388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546969167	chr2:52189399-52189400	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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52188400-52192200	Weak transcription	Osteobl	bone
2	chr2:52192200-52192600	Enhancers	Osteobl	bone
3	chr2:52192200-52192800	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr2:52203000-52204400	Enhancers	Hela-S3	cervix
5	chr2:52203800-52204200	Enhancers	Osteobl	bone
6	chr2:52206600-52207000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:52207000-52207400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:52209000-52209400	Active TSS	A549	lung
9	chr2:52214000-52214400	Enhancers	Fetal Brain Male	brain
10	chr2:52217800-52218000	Enhancers	Left Ventricle	heart
11	chr2:52217800-52218600	Enhancers	Fetal Heart	heart
12	chr2:52218000-52225800	Weak transcription	Left Ventricle	heart
13	chr2:52218600-52220800	Weak transcription	Fetal Heart	heart
14	chr2:52220800-52222400	Enhancers	NHDF-Ad	bronchial
15	chr2:52220800-52222800	Enhancers	Fetal Heart	heart
16	chr2:52221000-52222400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:52221000-52222600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:52221000-52222600	Enhancers	NHLF	lung
19	chr2:52221000-52222800	Enhancers	NH-A	brain
20	chr2:52221000-52222800	Enhancers	Osteobl	bone
21	chr2:52221200-52221400	Enhancers	Fetal Brain Male	brain
22	chr2:52221200-52222200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:52221200-52222400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:52221200-52222400	Enhancers	Hela-S3	cervix
25	chr2:52221400-52222400	Weak transcription	Fetal Brain Male	brain
26	chr2:52221400-52224200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:52221600-52222400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:52221600-52222800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:52221800-52223800	Enhancers	HUVEC	blood vessel
30	chr2:52222200-52222600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr2:52222200-52223800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:52222400-52222600	Enhancers	Fetal Brain Male	brain
33	chr2:52222400-52223600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:52222400-52223600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:52222400-52223600	Weak transcription	NHDF-Ad	bronchial
36	chr2:52222400-52225400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:52222600-52223600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:52222600-52223800	Weak transcription	NHLF	lung
39	chr2:52222800-52223200	Weak transcription	NH-A	brain
40	chr2:52222800-52223200	Weak transcription	Osteobl	bone
41	chr2:52222800-52224200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:52222800-52225000	Weak transcription	Fetal Heart	heart
43	chr2:52223200-52224200	Enhancers	Osteobl	bone
44	chr2:52223200-52224400	Enhancers	NH-A	brain
45	chr2:52223600-52224200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:52223600-52224400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:52223600-52224400	Enhancers	Muscle Satellite Cultured Cells	--
48	chr2:52223600-52224400	Enhancers	NHDF-Ad	bronchial
49	chr2:52223800-52224200	Flanking Active TSS	HUVEC	blood vessel
50	chr2:52223800-52224200	Enhancers	NHLF	lung

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