Variant report

Variant	nsv945936
Chromosome Location	chr1:79027456-79032369
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374349685	chr1:79027477-79027478	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs547590601	chr1:79027499-79027500	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs115622451	chr1:79027542-79027543	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs549184710	chr1:79027549-79027550	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs567498444	chr1:79027550-79027551	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs534887584	chr1:79027551-79027552	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs553320218	chr1:79027552-79027553	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs183642485	chr1:79027564-79027565	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs538257821	chr1:79027572-79027573	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs115061354	chr1:79027579-79027580	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs575238201	chr1:79027628-79027629	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs542344839	chr1:79027637-79027638	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs567376349	chr1:79027649-79027650	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs536735625	chr1:79027664-79027665	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs147134301	chr1:79027665-79027666	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs74696700	chr1:79027691-79027692	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs140330591	chr1:79027725-79027726	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs189086394	chr1:79027737-79027738	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs144295832	chr1:79027748-79027749	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs545065800	chr1:79027786-79027787	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs71643205	chr1:79027792-79027793	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs117923855	chr1:79027866-79027867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192183321	chr1:79027904-79027905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115338505	chr1:79027944-79027945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528304852	chr1:79027978-79027979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546868592	chr1:79027999-79028000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571446070	chr1:79028012-79028013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184551815	chr1:79028080-79028081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550287741	chr1:79028082-79028083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11162509	chr1:79028127-79028128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535910900	chr1:79028131-79028132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191618371	chr1:79028177-79028178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573850993	chr1:79028198-79028199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551311668	chr1:79028204-79028205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184128264	chr1:79028230-79028231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553572442	chr1:79028260-79028261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570063655	chr1:79028268-79028269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs578177144	chr1:79028272-79028273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188922316	chr1:79028276-79028277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545712175	chr1:79028277-79028278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539016757	chr1:79028280-79028281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147809639	chr1:79028282-79028283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559219220	chr1:79028283-79028284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539037695	chr1:79028287-79028288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35793960	chr1:79028303-79028304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571027879	chr1:79028304-79028305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200770176	chr1:79028306-79028307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535260558	chr1:79028307-79028308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76131572	chr1:79028310-79028311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181565516	chr1:79028313-79028314	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	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
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21990379	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79026000-79028600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:79027200-79027800	Active TSS	Monocytes-CD14+_RO01746	blood
3	chr1:79028000-79028400	Enhancers	Monocytes-CD14+_RO01746	blood

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