Variant report

Variant	nsv525401
Chromosome Location	chr1:47318400-47329647
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 201 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34700015	chr1:47322607-47322608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35986712	chr1:47322608-47322609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537188442	chr1:47322615-47322616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34865494	chr1:47322630-47322631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555450417	chr1:47322678-47322679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573922562	chr1:47322681-47322682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541431376	chr1:47322743-47322744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35261373	chr1:47322767-47322768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11211385	chr1:47322775-47322776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11211386	chr1:47322833-47322834	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs578216765	chr1:47322907-47322908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113511168	chr1:47322943-47322944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141669231	chr1:47322956-47322957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531134476	chr1:47322995-47322996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs56101164	chr1:47323008-47323009	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs370125236	chr1:47323010-47323011	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs56239161	chr1:47323026-47323027	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs547405987	chr1:47323060-47323061	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559366627	chr1:47323061-47323062	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs71307623	chr1:47323063-47323064	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79222717	chr1:47323091-47323092	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533306497	chr1:47323103-47323104	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375985036	chr1:47323122-47323123	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200199465	chr1:47323126-47323127	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532274893	chr1:47323141-47323142	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551153694	chr1:47323142-47323143	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140487327	chr1:47323168-47323169	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191159134	chr1:47323200-47323201	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536852379	chr1:47323201-47323202	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549031932	chr1:47323228-47323229	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567781357	chr1:47323276-47323277	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534686730	chr1:47323277-47323278	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs199731550	chr1:47323288-47323289	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34065395	chr1:47323292-47323293	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs578178935	chr1:47323295-47323296	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539296357	chr1:47323311-47323312	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11211387	chr1:47323322-47323323	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs537588065	chr1:47323323-47323324	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575876633	chr1:47323380-47323381	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184398903	chr1:47323391-47323392	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2813859	chr1:47323423-47323424	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs386630921	chr1:47323446-47323447	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2405338	chr1:47323448-47323449	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11355255	chr1:47323450-47323451	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561614469	chr1:47323502-47323503	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145678741	chr1:47323503-47323504	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532776180	chr1:47323528-47323529	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555341306	chr1:47323605-47323606	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2813858	chr1:47323614-47323615	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200230588	chr1:47323619-47323620	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	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
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
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
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	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
Melanoma	17363583	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
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Neuroblastoma	21899760	CNVD
Uveal melanoma	20484589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Glioblastoma	20031968	CNVD
Leukemia	18688285	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47322600-47324000	Enhancers	NHEK	skin
2	chr1:47323000-47323400	Enhancers	HUVEC	blood vessel
3	chr1:47323000-47323600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:47323000-47323600	Enhancers	HMEC	breast
5	chr1:47323000-47324000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr1:47323000-47324000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:47323200-47323600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:47323200-47323800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:47323200-47324000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:47323200-47324400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr1:47323400-47325000	Weak transcription	Left Ventricle	heart
12	chr1:47323600-47323800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr1:47324000-47324400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:47324400-47325000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:47324800-47325200	ZNF genes & repeats	Esophagus	oesophagus
16	chr1:47325000-47325200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:47325200-47327600	Weak transcription	Esophagus	oesophagus
18	chr1:47326600-47326800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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