Variant report

Variant	nsv945967
Chromosome Location	chr1:57084318-57086467
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:57086249-57086282	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000225475	TF binding region

Extended variants
information (count: 96 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560618195	chr1:57084334-57084335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148665149	chr1:57084344-57084345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551593363	chr1:57084427-57084428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12121876	chr1:57084473-57084474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549919312	chr1:57084534-57084535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191461395	chr1:57084537-57084538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183177780	chr1:57084567-57084568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550172862	chr1:57084575-57084576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569914489	chr1:57084590-57084591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535439356	chr1:57084596-57084597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571496373	chr1:57084601-57084602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12026769	chr1:57084625-57084626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs386631427	chr1:57084638-57084639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142203981	chr1:57084639-57084640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143403291	chr1:57084649-57084650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146347547	chr1:57084653-57084654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374962325	chr1:57084665-57084666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374124048	chr1:57084675-57084676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113280131	chr1:57084678-57084679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71048441	chr1:57084688-57084689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374868273	chr1:57084700-57084701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150801900	chr1:57084893-57084894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538992920	chr1:57084901-57084902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11206870	chr1:57084935-57084936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs145005279	chr1:57084948-57084949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs80019318	chr1:57084954-57084955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76400346	chr1:57084955-57084956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574308061	chr1:57084988-57084989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543939992	chr1:57085006-57085007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563533875	chr1:57085030-57085031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs3991780	chr1:57085031-57085032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201872035	chr1:57085033-57085034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373655939	chr1:57085035-57085036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200135597	chr1:57085044-57085045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397700568	chr1:57085045-57085046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200463396	chr1:57085046-57085047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113999496	chr1:57085047-57085048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147574904	chr1:57085063-57085064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377092428	chr1:57085084-57085085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553144882	chr1:57085088-57085089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140394070	chr1:57085093-57085094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200853751	chr1:57085094-57085095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563698643	chr1:57085111-57085112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7539169	chr1:57085120-57085121	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs200361575	chr1:57085150-57085151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530851907	chr1:57085169-57085170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544211521	chr1:57085188-57085189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188660088	chr1:57085205-57085206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201020626	chr1:57085220-57085221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372480145	chr1:57085221-57085222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
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
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
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
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
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57083200-57091600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:57085400-57085800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:57085800-57089600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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