Variant report

Variant	nsv457751
Chromosome Location	chr2:52040842-52060125
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	2:51755125-51764739..2:52034460-52043624	K562	blood:
2	2:52043909-52049825..2:52049825-52050373	K562	blood:
3	2:51664217-51674289..2:52034460-52043624	GM12878	blood:
4	chr2:52045177..52047183-chr2:52049220..52051220,2	K562	blood:
5	chr2:52045177..52047183-chr2:52049220..52051220,2	K562	blood:
6	chr2:52013693..52015857-chr2:52040010..52042547,2	K562	blood:
7	2:52043909-52049825..2:52049825-52050373	K562	blood:
8	2:51745267-51754233..2:52043624-52043909	K562	blood:
9	chr2:52045177..52047313-chr2:52049220..52051486,2	K562	blood:
10	2:51664217-51674289..2:52055539-52058793	H1-hESC	embryonic stem cell:	embryo
11	2:51664217-51674289..2:52043909-52049825	H1-hESC	embryonic stem cell:	embryo
12	chr2:52045177..52047313-chr2:52049220..52051486,2	K562	blood:

No data

Extended variants
information (count: 551 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7595930	chr2:52040842-52040843	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550070825	chr2:52040900-52040901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190683054	chr2:52040915-52040916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11563111	chr2:52040927-52040928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116475174	chr2:52040951-52040952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368848591	chr2:52040965-52040966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138113332	chr2:52040971-52040972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181976992	chr2:52040993-52040994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs28966386	chr2:52040998-52040999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78506307	chr2:52041007-52041008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186179138	chr2:52041015-52041016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11563261	chr2:52041066-52041067	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs80060792	chr2:52041067-52041068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17864624	chr2:52041099-52041100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189094533	chr2:52041109-52041110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374937737	chr2:52041199-52041200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546486987	chr2:52041236-52041237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140397341	chr2:52041247-52041248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547498054	chr2:52041255-52041256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528740696	chr2:52041280-52041281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150620359	chr2:52041299-52041300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11563082	chr2:52041361-52041362	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs139671500	chr2:52041416-52041417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573821532	chr2:52041428-52041429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372470600	chr2:52041453-52041454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373466225	chr2:52041456-52041457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149388268	chr2:52041608-52041609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534721815	chr2:52041645-52041646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565805841	chr2:52041705-52041706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568876683	chr2:52041710-52041711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11563110	chr2:52041737-52041738	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs35806021	chr2:52041786-52041787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575829448	chr2:52041794-52041795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144731351	chr2:52041803-52041804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544847465	chr2:52041814-52041815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34848052	chr2:52041827-52041828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369765822	chr2:52041845-52041846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9309221	chr2:52041853-52041854	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs185451432	chr2:52041860-52041861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74320111	chr2:52041912-52041913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs28966387	chr2:52041949-52041950	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs145540736	chr2:52041957-52041958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189911767	chr2:52041967-52041968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558526142	chr2:52042014-52042015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75835763	chr2:52042043-52042044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371272377	chr2:52042046-52042047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543057091	chr2:52042135-52042136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182908614	chr2:52042144-52042145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540847522	chr2:52042201-52042202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562112412	chr2:52042207-52042208	Weak transcription 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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52039000-52041200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr2:52039200-52041000	Enhancers	HMEC	breast
3	chr2:52039200-52041000	Enhancers	NH-A	brain
4	chr2:52039200-52041200	Enhancers	NHDF-Ad	bronchial
5	chr2:52039200-52041600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:52039200-52042400	Enhancers	HUVEC	blood vessel
7	chr2:52039400-52041000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:52039600-52043400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:52039800-52041000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:52039800-52041600	Enhancers	Hela-S3	cervix
11	chr2:52043200-52044000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:52043200-52044600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:52043400-52044800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:52043600-52044600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr2:52043600-52044600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr2:52043600-52044600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:52043800-52044400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr2:52044200-52044600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:52051800-52054000	Enhancers	Hela-S3	cervix
20	chr2:52052800-52053800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:52053400-52054200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:52053800-52054200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:52054200-52055000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:52054200-52068600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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