Variant report

Variant	nsv160700
Chromosome Location	chr1:103747389-103750782
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547838128	chr1:103748826-103748827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535200143	chr1:103748831-103748832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79025544	chr1:103748860-103748861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191660328	chr1:103748902-103748903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373541982	chr1:103748932-103748933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143159902	chr1:103748942-103748943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183122902	chr1:103748968-103748969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558042967	chr1:103748982-103748983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576299788	chr1:103748996-103748997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72997249	chr1:103749027-103749028	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs34917092	chr1:103749062-103749063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543602166	chr1:103749085-103749086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574420912	chr1:103749092-103749093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34051122	chr1:103749125-103749126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541720322	chr1:103749135-103749136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553530814	chr1:103749149-103749150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147060547	chr1:103749164-103749165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11810071	chr1:103749190-103749191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111709081	chr1:103749205-103749206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545428361	chr1:103749258-103749259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1881274	chr1:103749281-103749282	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs1881275	chr1:103749299-103749300	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs187028767	chr1:103749342-103749343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1881276	chr1:103749344-103749345	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs75689253	chr1:103749453-103749454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191871417	chr1:103749532-103749533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138054327	chr1:103749534-103749535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1881277	chr1:103749552-103749553	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs551453533	chr1:103749553-103749554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112108675	chr1:103749570-103749571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553839424	chr1:103749573-103749574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs61815088	chr1:103749576-103749577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186746117	chr1:103749580-103749581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576815303	chr1:103749626-103749627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149504580	chr1:103749671-103749672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1881278	chr1:103749681-103749682	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs545603978	chr1:103749692-103749693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558849048	chr1:103749723-103749724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535235416	chr1:103749820-103749821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554041357	chr1:103749821-103749822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs193223770	chr1:103749863-103749864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539436711	chr1:103749886-103749887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557455774	chr1:103749897-103749898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144009510	chr1:103749963-103749964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543540171	chr1:103749998-103749999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78362063	chr1:103750003-103750004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545334044	chr1:103750020-103750021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114536717	chr1:103750067-103750068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560009693	chr1:103750081-103750082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148695093	chr1:103750088-103750089	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103748800-103751000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:103749000-103750200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:103749000-103751000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:103749200-103751200	Enhancers	HSMM	muscle
5	chr1:103749600-103750400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:103749600-103750400	Enhancers	Adipose Nuclei	Adipose
7	chr1:103749600-103750600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:103749600-103750600	Enhancers	HSMMtube	muscle
9	chr1:103750000-103750800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:103750200-103750600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:103750600-103751200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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