Variant report

Variant	nsv818178
Chromosome Location	chr1:58795833-58802608
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	chr1:58799608..58801830-chr1:58803246..58806854,3	K562	blood:

Extended variants
information (count: 282 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1213642	chr1:58795833-58795834	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141536082	chr1:58795860-58795861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560759799	chr1:58795862-58795863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529709149	chr1:58795878-58795879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372823556	chr1:58795896-58795897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113972263	chr1:58795924-58795925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560248228	chr1:58795960-58795961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116799224	chr1:58795983-58795984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs80003414	chr1:58795987-58795988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571797182	chr1:58796014-58796015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147071855	chr1:58796025-58796026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138373421	chr1:58796041-58796042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188572554	chr1:58796073-58796074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12730076	chr1:58796131-58796132	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs553068254	chr1:58796297-58796298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191769447	chr1:58796312-58796313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566601729	chr1:58796327-58796328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538723043	chr1:58796328-58796329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558502211	chr1:58796407-58796408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575383640	chr1:58796468-58796469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544225518	chr1:58796546-58796547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149516341	chr1:58796554-58796555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs80096264	chr1:58796592-58796593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144003311	chr1:58796622-58796623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557222705	chr1:58796698-58796699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540200429	chr1:58796700-58796701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371874426	chr1:58796720-58796721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372605307	chr1:58796723-58796724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560310945	chr1:58796748-58796749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532279622	chr1:58796829-58796830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545875455	chr1:58796893-58796894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556664780	chr1:58796903-58796904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531088757	chr1:58796989-58796990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74977534	chr1:58797066-58797067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567586752	chr1:58797099-58797100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530061191	chr1:58797100-58797101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184012002	chr1:58797115-58797116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566509515	chr1:58797147-58797148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538794816	chr1:58797222-58797223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376248486	chr1:58797230-58797231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1582201	chr1:58797274-58797275	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs549273230	chr1:58797280-58797281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538003299	chr1:58797296-58797297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554582234	chr1:58797301-58797302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35787831	chr1:58797312-58797313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148275539	chr1:58797409-58797410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545926909	chr1:58797410-58797411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71580865	chr1:58797421-58797422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188608190	chr1:58797424-58797425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532532498	chr1:58797437-58797438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Breast cancer	21509527	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58795600-58796400	Enhancers	Primary T cells from cord blood	blood
2	chr1:58796400-58803000	Weak transcription	Primary T cells from cord blood	blood
3	chr1:58796800-58797400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:58797200-58797800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:58799200-58799600	Enhancers	Fetal Lung	lung
6	chr1:58800800-58801000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:58801200-58801400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:58802600-58810800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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