Variant report

Variant	nsv1007148
Chromosome Location	chr1:82907959-83000714
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	chr1:82948471..82950941-chr1:82951160..82953455,2	K562	blood:
2	chr1:82948471..82950941-chr1:82951160..82953455,2	K562	blood:

Extended variants
information (count: 2641 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:2641 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566433111	chr1:82909038-82909039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs72709829	chr1:82909096-82909097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149042982	chr1:82909156-82909157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577907669	chr1:82909178-82909179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575163248	chr1:82909280-82909281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539656224	chr1:82909292-82909293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537573056	chr1:82909307-82909308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112628586	chr1:82909317-82909318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142058077	chr1:82909343-82909344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575129391	chr1:82909346-82909347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115605906	chr1:82909355-82909356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79439993	chr1:82909366-82909367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577625791	chr1:82909391-82909392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141237257	chr1:82909398-82909399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562769908	chr1:82909408-82909409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531727140	chr1:82909461-82909462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573115451	chr1:82909462-82909463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537489653	chr1:82909497-82909498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548433482	chr1:82909523-82909524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556932663	chr1:82909560-82909561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541675725	chr1:82909566-82909567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146948820	chr1:82909576-82909577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566298615	chr1:82909594-82909595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538591045	chr1:82909616-82909617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74722175	chr1:82909646-82909647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150593625	chr1:82909673-82909674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35259577	chr1:82909681-82909682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs193242774	chr1:82909703-82909704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376770449	chr1:82909712-82909713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568808409	chr1:82909721-82909722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61602300	chr1:82909731-82909732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184079399	chr1:82909773-82909774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574604152	chr1:82909778-82909779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567678298	chr1:82909824-82909825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35477383	chr1:82909825-82909826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374090126	chr1:82909858-82909859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533835458	chr1:82909876-82909877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543781807	chr1:82909932-82909933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370796911	chr1:82909948-82909949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554438566	chr1:82909965-82909966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577489835	chr1:82910063-82910064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138493825	chr1:82910076-82910077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532852177	chr1:82910118-82910119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371230521	chr1:82910136-82910137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs202127227	chr1:82910179-82910180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188564793	chr1:82910194-82910195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576619948	chr1:82910219-82910220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547191193	chr1:82910324-82910325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192965769	chr1:82910330-82910331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4568872	chr1:82910351-82910352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
Pancreatic endocrine tumor	17639061	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:82909000-82909200	Enhancers	Ovary	ovary
2	chr1:82909200-82911200	Weak transcription	Ovary	ovary
3	chr1:82910800-82911000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:82911000-82911200	Enhancers	Colon Smooth Muscle	Colon
5	chr1:82911000-82911400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:82911000-82911600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:82911000-82912200	Enhancers	Fetal Lung	lung
8	chr1:82911200-82911400	Enhancers	Ovary	ovary
9	chr1:82911200-82912000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:82911400-82911800	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:82911400-82911800	Weak transcription	Ovary	ovary
12	chr1:82911400-82912000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:82911600-82912200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:82911800-82912200	Active TSS	Ovary	ovary
15	chr1:82911800-82912400	Enhancers	Colon Smooth Muscle	Colon
16	chr1:82912000-82912400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:82912000-82912600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:82912200-82913000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:82912400-82913000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:82912600-82913000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:82913000-82914800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:82914800-82915400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:82915200-82916000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr1:82915400-82915600	Enhancers	Aorta	Aorta
25	chr1:82915800-82917200	Weak transcription	Aorta	Aorta
26	chr1:82917200-82917400	ZNF genes & repeats	Aorta	Aorta
27	chr1:82918800-82920200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:82920600-82921800	Enhancers	Primary T cells from cord blood	blood
29	chr1:82921200-82921600	Enhancers	Fetal Lung	lung
30	chr1:82921600-82928600	Weak transcription	Fetal Lung	lung
31	chr1:82928000-82928400	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr1:82928400-82930000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr1:82928600-82932000	Enhancers	Fetal Lung	lung
34	chr1:82929200-82929600	Active TSS	Fetal Brain Male	brain
35	chr1:82929200-82932000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:82929400-82931000	Enhancers	Fetal Kidney	kidney
37	chr1:82929400-82931200	Enhancers	Brain Germinal Matrix	brain
38	chr1:82929400-82931400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:82929600-82930400	Weak transcription	Fetal Brain Male	brain
40	chr1:82929600-82930800	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr1:82929600-82933400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:82929800-82930600	Enhancers	Colon Smooth Muscle	Colon
43	chr1:82929800-82931200	Enhancers	Brain Hippocampus Middle	brain
44	chr1:82929800-82931400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:82929800-82931400	Enhancers	Adipose Nuclei	Adipose
46	chr1:82929800-82931400	Enhancers	Stomach Mucosa	stomach
47	chr1:82930000-82931000	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr1:82930000-82931200	Enhancers	Fetal Brain Female	brain
49	chr1:82930000-82931400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:82930000-82931400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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