Variant report

Variant	nsv946081
Chromosome Location	chr1:90798607-90800972
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564188375	chr1:90798648-90798649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs578034712	chr1:90798663-90798664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545315194	chr1:90798765-90798766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12145763	chr1:90798884-90798885	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs527486741	chr1:90798885-90798886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548875722	chr1:90798925-90798926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561051987	chr1:90798948-90798949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375000113	chr1:90798974-90798975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35288412	chr1:90798983-90798984	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs35895061	chr1:90799046-90799047	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs570906573	chr1:90799062-90799063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529179824	chr1:90799063-90799064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532706303	chr1:90799066-90799067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549043378	chr1:90799068-90799069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369060833	chr1:90799088-90799089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547692046	chr1:90799106-90799107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566215128	chr1:90799107-90799108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375028923	chr1:90799108-90799109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188211166	chr1:90799109-90799110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369184106	chr1:90799110-90799111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142565732	chr1:90799118-90799119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146475724	chr1:90799123-90799124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537541768	chr1:90799141-90799142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559036501	chr1:90799156-90799157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368401866	chr1:90799174-90799175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577320785	chr1:90799184-90799185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141043824	chr1:90799187-90799188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377745404	chr1:90799191-90799192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534480150	chr1:90799195-90799196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542838490	chr1:90799197-90799198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368131233	chr1:90799208-90799209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570621278	chr1:90799220-90799221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs193148428	chr1:90799259-90799260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543103706	chr1:90799269-90799270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201633596	chr1:90799398-90799399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531983516	chr1:90799419-90799420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185715989	chr1:90799422-90799423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539399609	chr1:90799427-90799428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190578298	chr1:90799440-90799441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530306688	chr1:90799450-90799451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374085735	chr1:90799456-90799457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75516971	chr1:90799529-90799530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570143467	chr1:90799536-90799537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537604992	chr1:90799547-90799548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144857493	chr1:90799559-90799560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191541704	chr1:90799569-90799570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535029411	chr1:90799590-90799591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183689214	chr1:90799600-90799601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572330552	chr1:90799618-90799619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566792219	chr1:90799634-90799635	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21922591	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:90798400-90799200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:90798400-90799600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:90799400-90800000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:90799800-90800200	Enhancers	HUES6 Cell Line	embryonic stem cell

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