Variant report

Variant	nsv997768
Chromosome Location	chr1:72583375-72665268
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2566 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:2566 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1385912	chr1:72583375-72583376	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs565572785	chr1:72583381-72583382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs367907587	chr1:72583382-72583383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541418452	chr1:72583399-72583400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561446783	chr1:72583426-72583427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530109721	chr1:72583438-72583439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144107658	chr1:72583453-72583454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563297607	chr1:72583464-72583465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532164699	chr1:72583474-72583475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200764132	chr1:72583483-72583484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552100344	chr1:72583485-72583486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs61765575	chr1:72583521-72583522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115860322	chr1:72583528-72583529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566839304	chr1:72583571-72583572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564938551	chr1:72583588-72583589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114218614	chr1:72583598-72583599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568171768	chr1:72583612-72583613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147287164	chr1:72583635-72583636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182300129	chr1:72583641-72583642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77093120	chr1:72583701-72583702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539211315	chr1:72583706-72583707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559324581	chr1:72583720-72583721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534329895	chr1:72583740-72583741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2630400	chr1:72583763-72583764	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs186629614	chr1:72583803-72583804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561080558	chr1:72583846-72583847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74087122	chr1:72583867-72583868	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs573944059	chr1:72583897-72583898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543592570	chr1:72583912-72583913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563801987	chr1:72583924-72583925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139242052	chr1:72583945-72583946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545578302	chr1:72583955-72583956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559238821	chr1:72583963-72583964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs193040090	chr1:72584055-72584056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548173884	chr1:72584092-72584093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141545252	chr1:72584165-72584166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530519342	chr1:72584182-72584183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1486096	chr1:72584184-72584185	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs75509510	chr1:72584214-72584215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116419443	chr1:72584230-72584231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559164142	chr1:72584260-72584261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566378997	chr1:72584272-72584273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150532651	chr1:72584296-72584297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184049903	chr1:72584334-72584335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555232364	chr1:72584350-72584351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78179657	chr1:72584376-72584377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369222794	chr1:72584455-72584456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574785552	chr1:72584456-72584457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553786477	chr1:72584527-72584528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546971774	chr1:72584561-72584562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Alcoholism	21790672	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Obesity	21131291	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:205 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72581800-72586800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:72583000-72583800	Enhancers	HSMMtube	muscle
3	chr1:72583000-72584200	Enhancers	Colon Smooth Muscle	Colon
4	chr1:72583800-72585400	Weak transcription	HSMMtube	muscle
5	chr1:72584200-72586400	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:72584800-72585800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:72585400-72585800	Enhancers	HSMMtube	muscle
8	chr1:72585800-72587400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:72585800-72587600	Weak transcription	HSMMtube	muscle
10	chr1:72586400-72587000	Enhancers	Colon Smooth Muscle	Colon
11	chr1:72586800-72587200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:72587200-72587800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:72587200-72587800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:72587400-72588800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:72587600-72588000	Enhancers	Fetal Lung	lung
16	chr1:72587600-72588800	Enhancers	HSMMtube	muscle
17	chr1:72587600-72589200	Enhancers	NHDF-Ad	bronchial
18	chr1:72587800-72588200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:72587800-72588400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:72587800-72589200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:72588000-72588800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:72588000-72588800	Enhancers	HSMM	muscle
23	chr1:72588200-72588400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:72588400-72588600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:72588400-72589000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:72588600-72589000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:72588800-72591400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:72589000-72589200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:72589000-72591400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:72589200-72591200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:72589200-72591400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:72591200-72591600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:72591400-72591600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:72591400-72591600	Enhancers	Osteobl	bone
35	chr1:72591400-72591800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:72591400-72592000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr1:72591600-72591800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:72591800-72592200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:72591800-72592200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:72592200-72592400	Enhancers	Osteobl	bone
41	chr1:72592400-72595200	Weak transcription	Left Ventricle	heart
42	chr1:72601200-72601600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:72601600-72602600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:72602600-72604600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:72604600-72629600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:72605600-72606400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:72605600-72606400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:72605800-72606200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:72605800-72606400	Enhancers	HUVEC	blood vessel
50	chr1:72606000-72606200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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