Variant report

Variant	esv3414158
Chromosome Location	chr1:72847980-72873293
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	chr1:72863619..72864264-chr11:65396606..65397388,2	MCF-7	breast:

Extended variants
information (count: 288 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:288 , 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	rs528823950	chr1:72852033-72852034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548612728	chr1:72852068-72852069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568693709	chr1:72852124-72852125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573215879	chr1:72852136-72852137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537072992	chr1:72852157-72852158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138877017	chr1:72852164-72852165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556903009	chr1:72852186-72852187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12082203	chr1:72852198-72852199	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs539526093	chr1:72852226-72852227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568080266	chr1:72852238-72852239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373896115	chr1:72852248-72852249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72945118	chr1:72852264-72852265	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs541966158	chr1:72852288-72852289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186053563	chr1:72852316-72852317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76713348	chr1:72852318-72852319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575579507	chr1:72852347-72852348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75666357	chr1:72852352-72852353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79377642	chr1:72852366-72852367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533828498	chr1:72852367-72852368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12562576	chr1:72852383-72852384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77133296	chr1:72852392-72852393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74555461	chr1:72852419-72852420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75745588	chr1:72852445-72852446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77341223	chr1:72852462-72852463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148217507	chr1:72852465-72852466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77199136	chr1:72852493-72852494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369067593	chr1:72852526-72852527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528800938	chr1:72859409-72859410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548482429	chr1:72859419-72859420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114116549	chr1:72859448-72859449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191160229	chr1:72859474-72859475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550919764	chr1:72859535-72859536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570892813	chr1:72859559-72859560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567032073	chr1:72859571-72859572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373676942	chr1:72859642-72859643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150766003	chr1:72859670-72859671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539241796	chr1:72859673-72859674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145726231	chr1:72859699-72859700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs66779968	chr1:72859700-72859701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10581688	chr1:72859701-72859702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540634490	chr1:72859716-72859717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs3082361	chr1:72859727-72859728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs397980494	chr1:72859734-72859735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112262679	chr1:72859753-72859754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535602428	chr1:72859759-72859760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555701860	chr1:72859824-72859825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376410376	chr1:72859831-72859832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538980377	chr1:72859855-72859856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373138790	chr1:72859864-72859865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377258988	chr1:72859935-72859936	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
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
small cell lung cancer	20016488	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72852000-72852600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:72859400-72861000	Enhancers	Dnd41	blood
3	chr1:72859800-72860800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:72862800-72863400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:72863000-72865200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr1:72863400-72863600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:72863400-72863800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:72863400-72863800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:72863400-72863800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:72863400-72863800	Enhancers	Ovary	ovary
11	chr1:72863400-72863800	Enhancers	HMEC	breast
12	chr1:72863400-72863800	Enhancers	NHDF-Ad	bronchial
13	chr1:72863400-72863800	Enhancers	Osteobl	bone
14	chr1:72863400-72864000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:72863400-72864600	Enhancers	HSMM	muscle
16	chr1:72863600-72863800	Enhancers	Gastric	stomach
17	chr1:72863600-72863800	Enhancers	HSMMtube	muscle
18	chr1:72863600-72864000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:72863600-72864000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:72863600-72864000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr1:72863600-72864000	Enhancers	NH-A	brain
22	chr1:72863600-72864200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:72863800-72864600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:72864000-72864400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:72864600-72868400	Weak transcription	HSMM	muscle

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