Variant report

Variant	nsv1014197
Chromosome Location	chr2:53219203-53290638
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1868 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1868 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555508803	chr2:53222215-53222216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575119951	chr2:53222288-53222289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140455823	chr2:53222323-53222324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189156621	chr2:53222329-53222330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577903491	chr2:53222330-53222331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181134922	chr2:53222336-53222337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537260456	chr2:53222340-53222341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184801454	chr2:53222385-53222386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373698938	chr2:53222406-53222407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111676970	chr2:53222416-53222417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150049323	chr2:53222459-53222460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6743222	chr2:53222489-53222490	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs551784756	chr2:53222499-53222500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576055592	chr2:53222504-53222505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561239996	chr2:53222525-53222526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs59772910	chr2:53222539-53222540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527961353	chr2:53222540-53222541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548114937	chr2:53222541-53222542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374966653	chr2:53222546-53222547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549943550	chr2:53222561-53222562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567821176	chr2:53222711-53222712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536890037	chr2:53222749-53222750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6545313	chr2:53222840-53222841	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs114923241	chr2:53222850-53222851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181051605	chr2:53222870-53222871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537511916	chr2:53222874-53222875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187337912	chr2:53222876-53222877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115819179	chr2:53222880-53222881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6545314	chr2:53222891-53222892	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs6545315	chr2:53222962-53222963	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs542438943	chr2:53222991-53222992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562822739	chr2:53223000-53223001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369475719	chr2:53223004-53223005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531793960	chr2:53223005-53223006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs35541054	chr2:53223009-53223010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs117225202	chr2:53223022-53223023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6545316	chr2:53223038-53223039	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs34501982	chr2:53223042-53223043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527697653	chr2:53223075-53223076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548102449	chr2:53223079-53223080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191013897	chr2:53223103-53223104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7595561	chr2:53223155-53223156	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs572607349	chr2:53224007-53224008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369583342	chr2:53224018-53224019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541554987	chr2:53224037-53224038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115686159	chr2:53224132-53224133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372902687	chr2:53224145-53224146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574895775	chr2:53224186-53224187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139280261	chr2:53224235-53224236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563872928	chr2:53224248-53224249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53222200-53223200	Enhancers	Fetal Stomach	stomach
2	chr2:53224000-53224200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:53224200-53224800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:53224400-53225800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:53224800-53225600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:53225200-53225400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:53225400-53226600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:53226600-53227200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:53232600-53233200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:53233800-53234800	Enhancers	Fetal Intestine Large	intestine
11	chr2:53234000-53234800	Enhancers	Fetal Intestine Small	intestine
12	chr2:53238000-53238200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:53238200-53241000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:53241000-53241200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:53245200-53246000	Enhancers	Brain Germinal Matrix	brain
16	chr2:53246400-53246600	Enhancers	Fetal Lung	lung
17	chr2:53248000-53248600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:53248200-53248800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:53248200-53248800	Enhancers	Fetal Stomach	stomach
20	chr2:53248200-53249000	Enhancers	NHDF-Ad	bronchial
21	chr2:53248400-53248800	Enhancers	Fetal Lung	lung
22	chr2:53248400-53249000	Enhancers	NHLF	lung
23	chr2:53248600-53248800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:53248800-53255400	Weak transcription	Fetal Lung	lung
25	chr2:53249000-53254200	Weak transcription	NHDF-Ad	bronchial
26	chr2:53252000-53252200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:53252200-53254000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:53253800-53256600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:53254000-53254200	Enhancers	HSMMtube	muscle
30	chr2:53254000-53254200	Enhancers	Osteobl	bone
31	chr2:53254000-53254400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:53254200-53254400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:53254200-53255000	Weak transcription	HSMMtube	muscle
34	chr2:53254200-53255200	Weak transcription	Osteobl	bone
35	chr2:53254200-53255800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:53254200-53256200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:53254200-53256200	Enhancers	NHDF-Ad	bronchial
38	chr2:53254400-53255200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:53254400-53260000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:53255000-53255800	Enhancers	NHLF	lung
41	chr2:53255000-53256200	Enhancers	HSMMtube	muscle
42	chr2:53255200-53255600	Enhancers	HSMM	muscle
43	chr2:53255200-53255800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:53255200-53255800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr2:53255200-53255800	Enhancers	HMEC	breast
46	chr2:53255200-53255800	Enhancers	Osteobl	bone
47	chr2:53255200-53256200	Enhancers	Adipose Nuclei	Adipose
48	chr2:53255200-53256200	Enhancers	NH-A	brain
49	chr2:53255200-53256400	Enhancers	Hela-S3	cervix
50	chr2:53255200-53256600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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