Variant report

Variant	nsv547207
Chromosome Location	chr1:104334217-104419830
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	chr1:104307678..104310486-chr1:104333154..104335185,2	K562	blood:
2	chr1:104320249..104323301-chr1:104334806..104337281,3	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554986176	chr1:104360044-104360045	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs573949281	chr1:104360074-104360075	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs541333521	chr1:104360162-104360163	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs138272441	chr1:104360184-104360185	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs374924562	chr1:104360185-104360186	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs190238665	chr1:104360197-104360198	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs563612904	chr1:104360201-104360202	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs192960271	chr1:104360215-104360216	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs549393741	chr1:104360223-104360224	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs376918024	chr1:104360247-104360248	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs567669693	chr1:104360261-104360262	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs529163324	chr1:104360262-104360263	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs551603585	chr1:104360273-104360274	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs1930181	chr1:104360300-104360301	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs142613139	chr1:104360335-104360336	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs539235319	chr1:104360370-104360371	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs557966950	chr1:104360387-104360388	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs569642434	chr1:104360408-104360409	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs371402399	chr1:104360412-104360413	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs536750971	chr1:104360420-104360421	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs114170209	chr1:104360421-104360422	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs573317397	chr1:104360422-104360423	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs377543070	chr1:104360426-104360427	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs75423685	chr1:104360453-104360454	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs553367239	chr1:104360502-104360503	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs11577390	chr1:104360512-104360513	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs540360534	chr1:104360519-104360520	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs148700435	chr1:104360544-104360545	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs115118798	chr1:104360566-104360567	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs377386626	chr1:104360585-104360586	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs531633029	chr1:104360586-104360587	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs575764452	chr1:104360592-104360593	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs563111832	chr1:104369812-104369813	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs575073372	chr1:104369826-104369827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs183160407	chr1:104369833-104369834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs374244770	chr1:104369910-104369911	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs565390859	chr1:104369912-104369913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs187892601	chr1:104369913-104369914	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs528220452	chr1:104369941-104369942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs67461836	chr1:104369948-104369949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs374566792	chr1:104369951-104369952	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs377570699	chr1:104369958-104369959	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs138902788	chr1:104369959-104369960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs113005741	chr1:104369979-104369980	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs111888630	chr1:104369982-104369983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs71573074	chr1:104369995-104369996	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs557585226	chr1:104370000-104370001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs143459022	chr1:104370080-104370081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs190362027	chr1:104370084-104370085	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs532821148	chr1:104370091-104370092	ZNF genes & repeats	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
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
Multiple myeloma	17550852	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:104360000-104360400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:104360200-104360600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:104369800-104370200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:104369800-104370200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr1:104373200-104373600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:104377600-104378400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell

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