Variant report

Variant	nsv581893
Chromosome Location	chr2:51914354-51928042
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	2:51664217-51674289..2:51908308-51914662	H1-hESC	embryonic stem cell:	embryo
2	chr2:51909335..51911785-chr2:51912950..51915647,2	K562	blood:
3	chr17:57919582..57921747-chr2:51927078..51928640,2	MCF-7	breast:

Extended variants
information (count: 315 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11563089	chr2:51920617-51920618	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185421044	chr2:51920621-51920622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564214962	chr2:51920631-51920632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6739137	chr2:51920657-51920658	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs570799217	chr2:51920674-51920675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535032053	chr2:51920740-51920741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377463748	chr2:51920753-51920754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553129126	chr2:51920775-51920776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191174451	chr2:51921256-51921257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576040127	chr2:51921314-51921315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562561692	chr2:51921325-51921326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532924865	chr2:51921357-51921358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551352189	chr2:51921376-51921377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566159225	chr2:51921403-51921404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538520240	chr2:51921408-51921409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556726724	chr2:51921453-51921454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143481495	chr2:51921473-51921474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377169598	chr2:51921488-51921489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148037626	chr2:51921499-51921500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181088940	chr2:51921504-51921505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2354979	chr2:51921531-51921532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2883571	chr2:51921537-51921538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs539596450	chr2:51921559-51921560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186132345	chr2:51921612-51921613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375944348	chr2:51921655-51921656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573238479	chr2:51921665-51921666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72878781	chr2:51921674-51921675	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs572578353	chr2:51921736-51921737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142127132	chr2:51921739-51921740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115969906	chr2:51921766-51921767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367780645	chr2:51921770-51921771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370262848	chr2:51921791-51921792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372135727	chr2:51921820-51921821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562587289	chr2:51921839-51921840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2354980	chr2:51921851-51921852	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs201469792	chr2:51921869-51921870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559831279	chr2:51921898-51921899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527266925	chr2:51921904-51921905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs28961310	chr2:51921927-51921928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548573592	chr2:51921937-51921938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568375152	chr2:51921941-51921942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs28961311	chr2:51921942-51921943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs28961312	chr2:51921944-51921945	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs550606687	chr2:51921962-51921963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368258653	chr2:51921979-51921980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190511787	chr2:51922058-51922059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570031821	chr2:51922070-51922071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569382050	chr2:51922075-51922076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs28961313	chr2:51922076-51922077	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs72807852	chr2:51922125-51922126	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Schizophrenia	20967226	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51920600-51920800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:51921200-51922400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:51921800-51922400	Enhancers	Osteobl	bone
4	chr2:51922000-51922200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:51922200-51922800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:51922400-51922800	Weak transcription	Osteobl	bone
7	chr2:51922400-51923800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:51922800-51924600	Enhancers	Osteobl	bone
9	chr2:51922800-51925000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:51923800-51924200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:51923800-51924200	Enhancers	Liver	Liver
12	chr2:51924200-51924600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:51924200-51924600	Flanking Active TSS	Liver	Liver
14	chr2:51924200-51924800	Active TSS	A549	lung
15	chr2:51924400-51925000	Enhancers	HepG2	liver
16	chr2:51924400-51925200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr2:51924600-51926600	Enhancers	Liver	Liver
18	chr2:51924800-51925000	Flanking Active TSS	A549	lung
19	chr2:51924800-51925200	Enhancers	Fetal Intestine Small	intestine
20	chr2:51924800-51926000	Enhancers	Fetal Intestine Large	intestine
21	chr2:51925000-51925200	Active TSS	A549	lung
22	chr2:51925000-51927800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:51925200-51925600	Enhancers	A549	lung
24	chr2:51927800-51930400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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