Variant report

Variant	nsv874104
Chromosome Location	chr2:52328224-52369881
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:52344101..52346354-chr2:52360940..52363061,2	MCF-7	breast:
2	chr2:52344101..52346354-chr2:52360940..52363061,2	MCF-7	breast:
3	chr2:52357469..52360071-chr20:52739539..52742222,2	MCF-7	breast:
4	chr2:52335533..52337278-chr2:52346386..52348387,2	K562	blood:
5	chr2:52367783..52370728-chr2:52370744..52372935,2	K562	blood:
6	chr2:52335533..52337278-chr2:52346386..52348387,2	K562	blood:

Extended variants
information (count: 917 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:917 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556654446	chr2:52334413-52334414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112960744	chr2:52334444-52334445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529370695	chr2:52334465-52334466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554213780	chr2:52334467-52334468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572434327	chr2:52334495-52334496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542963929	chr2:52334496-52334497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561142343	chr2:52334507-52334508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150414588	chr2:52334528-52334529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576217526	chr2:52334561-52334562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116340981	chr2:52334564-52334565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138226450	chr2:52334605-52334606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532109047	chr2:52334606-52334607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547048361	chr2:52334629-52334630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2883775	chr2:52334669-52334670	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs529615238	chr2:52334707-52334708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs13030105	chr2:52334716-52334717	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs181040116	chr2:52334719-52334720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538474576	chr2:52334781-52334782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186421709	chr2:52334802-52334803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571766797	chr2:52334813-52334814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371576070	chr2:52334822-52334823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554277255	chr2:52334837-52334838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115520444	chr2:52334862-52334863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs62141901	chr2:52334884-52334885	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs554885878	chr2:52334894-52334895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547551991	chr2:52334988-52334989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111317245	chr2:52334989-52334990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77915741	chr2:52335000-52335001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35305292	chr2:52335088-52335089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564940980	chr2:52335098-52335099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567507288	chr2:52335100-52335101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576935410	chr2:52335137-52335138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369896180	chr2:52335161-52335162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575298637	chr2:52335198-52335199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540750339	chr2:52335219-52335220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191181954	chr2:52335243-52335244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181502608	chr2:52335247-52335248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114068482	chr2:52335252-52335253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186185403	chr2:52335283-52335284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536474834	chr2:52335292-52335293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531917500	chr2:52335322-52335323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145067754	chr2:52335344-52335345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555438328	chr2:52335371-52335372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571767177	chr2:52335415-52335416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575284366	chr2:52335447-52335448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532729136	chr2:52335456-52335457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368828826	chr2:52335476-52335477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201173592	chr2:52335592-52335593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2355803	chr2:52335664-52335665	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs191247963	chr2:52335678-52335679	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52334400-52335000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:52335000-52336000	Enhancers	HMEC	breast
3	chr2:52335600-52336000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:52339000-52341000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:52339000-52341400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:52339400-52340600	Enhancers	Osteobl	bone
7	chr2:52340400-52341600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:52340600-52344400	Weak transcription	Osteobl	bone
9	chr2:52341400-52344200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:52341600-52344000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:52342600-52343000	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr2:52342600-52343200	Enhancers	NHDF-Ad	bronchial
13	chr2:52342800-52343000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:52343200-52344200	Weak transcription	NHDF-Ad	bronchial
15	chr2:52343200-52347200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:52344000-52344600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:52344200-52344400	Enhancers	NHDF-Ad	bronchial
18	chr2:52344200-52344600	Enhancers	Adipose Nuclei	Adipose
19	chr2:52344200-52345200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:52344400-52345000	Enhancers	Osteobl	bone
21	chr2:52344600-52346400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:52345000-52355000	Weak transcription	Osteobl	bone
23	chr2:52347200-52350600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:52347400-52347800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:52350600-52354400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:52352800-52353000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:52353200-52354200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:52353600-52355800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:52354200-52355000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr2:52354200-52355600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:52354200-52355600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:52354400-52355600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:52354800-52355200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:52354800-52355400	Enhancers	NHLF	lung
35	chr2:52354800-52355600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:52355000-52355800	Enhancers	Osteobl	bone
37	chr2:52362200-52363000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:52366600-52367200	Enhancers	Fetal Brain Female	brain
39	chr2:52366600-52367600	Enhancers	Fetal Brain Male	brain
40	chr2:52367600-52368000	Weak transcription	Fetal Brain Male	brain
41	chr2:52367600-52368600	Enhancers	Fetal Heart	heart
42	chr2:52367800-52368400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:52368000-52368400	Enhancers	Fetal Brain Male	brain
44	chr2:52368400-52372000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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