Variant report

Variant	nsv874097
Chromosome Location	chr2:52165998-52227824
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	chr2:50973459..50974271-chr2:52224493..52225477,4	MCF-7	breast:
2	chr2:50763606..50764181-chr2:52224822..52225393,2	MCF-7	breast:

Extended variants
information (count: 1523 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1523 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532657517	chr2:52166008-52166009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs186953470	chr2:52166020-52166021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs55707408	chr2:52166051-52166052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs17764044	chr2:52166060-52166061	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs150900250	chr2:52166081-52166082	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs56062369	chr2:52166095-52166096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs548543355	chr2:52166129-52166130	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs544847337	chr2:52166156-52166157	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs11299901	chr2:52166158-52166159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs397868837	chr2:52166179-52166180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs374800015	chr2:52166180-52166181	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs375950615	chr2:52166183-52166184	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs62139970	chr2:52166222-52166223	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs548783869	chr2:52166262-52166263	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs567328175	chr2:52166277-52166278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs569888505	chr2:52166288-52166289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs12999885	chr2:52166333-52166334	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs111522269	chr2:52166338-52166339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs543054554	chr2:52170811-52170812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs564536849	chr2:52170821-52170822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs533682968	chr2:52170827-52170828	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs545339979	chr2:52170833-52170834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs149408053	chr2:52170837-52170838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs527855445	chr2:52170913-52170914	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs191650050	chr2:52170957-52170958	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs567798877	chr2:52171002-52171003	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs531836779	chr2:52171018-52171019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs1303768	chr2:52171034-52171035	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs571627179	chr2:52171049-52171050	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs538940196	chr2:52171133-52171134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs553753009	chr2:52171143-52171144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs565941378	chr2:52171147-52171148	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs544207749	chr2:52171174-52171175	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs76396699	chr2:52171199-52171200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs533243807	chr2:52171214-52171215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112473209	chr2:52171218-52171219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554335367	chr2:52171224-52171225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183413705	chr2:52171245-52171246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188813565	chr2:52171272-52171273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558142196	chr2:52171278-52171279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552954560	chr2:52171298-52171299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377386702	chr2:52171314-52171315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576732873	chr2:52171335-52171336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs59437794	chr2:52171347-52171348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs115629194	chr2:52171350-52171351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527293673	chr2:52171359-52171360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143748553	chr2:52171368-52171369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561417434	chr2:52171424-52171425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs59626951	chr2:52171425-52171426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs550263367	chr2:52171429-52171430	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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52166000-52166400	ZNF genes & repeats	Primary T cells from cord blood	blood
2	chr2:52170800-52171200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:52171200-52178800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:52175400-52175600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:52175600-52176200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:52178200-52178400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:52178800-52179800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:52180600-52180800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:52180600-52182000	Enhancers	NHDF-Ad	bronchial
10	chr2:52180800-52181200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:52180800-52181600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:52180800-52182400	Enhancers	Osteobl	bone
13	chr2:52181200-52182200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:52181600-52182000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:52182000-52182200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:52182000-52186400	Weak transcription	NHDF-Ad	bronchial
17	chr2:52182200-52182600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:52182600-52186200	Weak transcription	Osteobl	bone
19	chr2:52186200-52188400	Enhancers	Osteobl	bone
20	chr2:52186400-52186600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:52186400-52188400	Enhancers	NHDF-Ad	bronchial
22	chr2:52186600-52187200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:52187200-52188400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:52187200-52188400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:52187400-52188200	Enhancers	NH-A	brain
26	chr2:52188000-52188400	Enhancers	HMEC	breast
27	chr2:52188400-52192200	Weak transcription	Osteobl	bone
28	chr2:52192200-52192600	Enhancers	Osteobl	bone
29	chr2:52192200-52192800	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr2:52203000-52204400	Enhancers	Hela-S3	cervix
31	chr2:52203800-52204200	Enhancers	Osteobl	bone
32	chr2:52206600-52207000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr2:52207000-52207400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr2:52209000-52209400	Active TSS	A549	lung
35	chr2:52214000-52214400	Enhancers	Fetal Brain Male	brain
36	chr2:52217800-52218000	Enhancers	Left Ventricle	heart
37	chr2:52217800-52218600	Enhancers	Fetal Heart	heart
38	chr2:52218000-52225800	Weak transcription	Left Ventricle	heart
39	chr2:52218600-52220800	Weak transcription	Fetal Heart	heart
40	chr2:52220800-52222400	Enhancers	NHDF-Ad	bronchial
41	chr2:52220800-52222800	Enhancers	Fetal Heart	heart
42	chr2:52221000-52222400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:52221000-52222600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:52221000-52222600	Enhancers	NHLF	lung
45	chr2:52221000-52222800	Enhancers	NH-A	brain
46	chr2:52221000-52222800	Enhancers	Osteobl	bone
47	chr2:52221200-52221400	Enhancers	Fetal Brain Male	brain
48	chr2:52221200-52222200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:52221200-52222400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:52221200-52222400	Enhancers	Hela-S3	cervix

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