Variant report

Variant	nsv457774
Chromosome Location	chr2:52048275-52065967
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	2:52043909-52049825..2:52049825-52050373	K562	blood:
2	2:51664217-51674289..2:52055539-52058793	H1-hESC	embryonic stem cell:	embryo
3	2:52043909-52049825..2:52049825-52050373	K562	blood:
4	chr2:52063384..52066305-chr2:52068038..52070794,3	K562	blood:
5	2:51664217-51674289..2:52043909-52049825	H1-hESC	embryonic stem cell:	embryo
6	chr2:52045177..52047183-chr2:52049220..52051220,2	K562	blood:
7	chr2:52045177..52047313-chr2:52049220..52051486,2	K562	blood:

Extended variants
information (count: 680 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:680 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146183159	chr2:52051852-52051853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528394358	chr2:52051915-52051916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139050399	chr2:52051944-52051945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540996309	chr2:52051952-52051953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79934047	chr2:52051989-52051990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559403463	chr2:52052028-52052029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550329672	chr2:52052036-52052037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568634785	chr2:52052129-52052130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11125387	chr2:52052145-52052146	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs373533542	chr2:52052172-52052173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529757835	chr2:52052202-52052203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181151030	chr2:52052208-52052209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572792699	chr2:52052214-52052215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533779897	chr2:52052222-52052223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553731729	chr2:52052224-52052225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575170226	chr2:52052249-52052250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575564273	chr2:52052275-52052276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371146894	chr2:52052306-52052307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7594115	chr2:52052339-52052340	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs563842955	chr2:52052366-52052367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557951940	chr2:52052391-52052392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576493941	chr2:52052421-52052422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545588265	chr2:52052456-52052457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78341965	chr2:52052457-52052458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184626509	chr2:52052458-52052459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188997227	chr2:52052461-52052462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528521440	chr2:52052492-52052493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546565927	chr2:52052520-52052521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182035438	chr2:52052543-52052544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547986084	chr2:52052549-52052550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550366448	chr2:52052561-52052562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572742930	chr2:52052572-52052573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35878700	chr2:52052600-52052601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533142533	chr2:52052608-52052609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370610186	chr2:52052642-52052643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146447980	chr2:52052643-52052644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72874614	chr2:52052665-52052666	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs375235103	chr2:52052670-52052671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555367453	chr2:52052707-52052708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568790965	chr2:52052720-52052721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561942075	chr2:52052722-52052723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs28968777	chr2:52052731-52052732	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs60681870	chr2:52052745-52052746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs72319270	chr2:52052754-52052755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs398060183	chr2:52052765-52052766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34380984	chr2:52052767-52052768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186417170	chr2:52052769-52052770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546373415	chr2:52052796-52052797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190437668	chr2:52052802-52052803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116183498	chr2:52052810-52052811	Enhancers	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52051800-52054000	Enhancers	Hela-S3	cervix
2	chr2:52052800-52053800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:52053400-52054200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:52053800-52054200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:52054200-52055000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:52054200-52068600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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