Variant report

Variant	nsv511697
Chromosome Location	chr1:71739624-71742411
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57281837	chr1:71739705-71739706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371113549	chr1:71739721-71739722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575768310	chr1:71739739-71739740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149252742	chr1:71739748-71739749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183553427	chr1:71739749-71739750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550759398	chr1:71739756-71739757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570253443	chr1:71739765-71739766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537441774	chr1:71739844-71739845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188786037	chr1:71739847-71739848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528998746	chr1:71739877-71739878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141891529	chr1:71739928-71739929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566436937	chr1:71739974-71739975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113710696	chr1:71740002-71740003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs962231	chr1:71740028-71740029	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs575590045	chr1:71740058-71740059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538075897	chr1:71740059-71740060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557940982	chr1:71740061-71740062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs193213414	chr1:71740125-71740126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546248665	chr1:71740169-71740170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183794612	chr1:71740294-71740295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75580657	chr1:71740300-71740301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188070601	chr1:71740310-71740311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75220584	chr1:71740318-71740319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7527741	chr1:71740325-71740326	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs191830516	chr1:71740343-71740344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371566507	chr1:71740346-71740347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184054216	chr1:71740365-71740366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550773487	chr1:71740374-71740375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374789009	chr1:71740414-71740415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368125226	chr1:71740466-71740467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145032261	chr1:71740476-71740477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189741949	chr1:71740478-71740479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546642997	chr1:71740516-71740517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181740882	chr1:71740583-71740584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186824523	chr1:71740652-71740653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376318253	chr1:71740660-71740661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138964703	chr1:71740685-71740686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569180634	chr1:71740706-71740707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538089986	chr1:71740712-71740713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534633063	chr1:71740721-71740722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190560225	chr1:71740774-71740775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs367563854	chr1:71742203-71742204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534039441	chr1:71742215-71742216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144439732	chr1:71742275-71742276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs80228761	chr1:71742334-71742335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183471749	chr1:71742336-71742337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555364427	chr1:71742339-71742340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571580415	chr1:71742343-71742344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189628659	chr1:71742356-71742357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148440363	chr1:71742377-71742378	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
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
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
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
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
body mass index	19812545	CNVD
Obesity	20935630	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71739200-71740400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:71740200-71740800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:71742200-71742400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:71742400-71751000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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