Variant report

Variant	nsv526861
Chromosome Location	chr2:52036315-52038675
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	2:51755125-51764739..2:52034460-52043624	K562	blood:
2	2:51664217-51674289..2:52034460-52043624	GM12878	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370891918	chr2:52037240-52037241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34921698	chr2:52037272-52037273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571345111	chr2:52037285-52037286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs28966382	chr2:52037326-52037327	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs141665370	chr2:52037338-52037339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572030550	chr2:52037370-52037371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540930781	chr2:52037376-52037377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184640039	chr2:52037396-52037397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574241585	chr2:52037402-52037403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544825769	chr2:52037411-52037412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534239398	chr2:52037440-52037441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562919689	chr2:52037472-52037473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533490392	chr2:52037511-52037512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545065417	chr2:52037512-52037513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187730147	chr2:52037558-52037559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527634791	chr2:52037573-52037574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150568778	chr2:52037585-52037586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192703240	chr2:52037596-52037597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531483001	chr2:52037614-52037615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184098662	chr2:52037657-52037658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571318269	chr2:52037678-52037679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538745187	chr2:52037693-52037694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189880796	chr2:52037715-52037716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370785377	chr2:52037740-52037741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375310959	chr2:52037754-52037755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17868258	chr2:52037810-52037811	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs554250995	chr2:52037849-52037850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574304805	chr2:52037851-52037852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371854736	chr2:52037863-52037864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538129495	chr2:52037867-52037868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556733774	chr2:52037882-52037883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181137908	chr2:52037954-52037955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574155062	chr2:52037957-52037958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138558748	chr2:52037967-52037968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141858524	chr2:52037974-52037975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146269251	chr2:52037986-52037987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1550101	chr2:52038014-52038015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs575333258	chr2:52038050-52038051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184615532	chr2:52038052-52038053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188980393	chr2:52038078-52038079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549765335	chr2:52038110-52038111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139562357	chr2:52038117-52038118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532393673	chr2:52038126-52038127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182035295	chr2:52038127-52038128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565813786	chr2:52038145-52038146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543233938	chr2:52038213-52038214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372185464	chr2:52038225-52038226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186414067	chr2:52038279-52038280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569517421	chr2:52038289-52038290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538539987	chr2:52038306-52038307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52037200-52037600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr2:52037600-52038400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:52038200-52039200	Enhancers	Hela-S3	cervix
4	chr2:52038400-52039600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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