Variant report

Variant	nsv818223
Chromosome Location	chr1:72477221-72482645
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 223 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:223 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17363292	chr1:72477221-72477222	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs150305991	chr1:72477234-72477235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546821445	chr1:72477324-72477325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560449763	chr1:72477395-72477396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529220430	chr1:72477456-72477457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376277956	chr1:72477470-72477471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191680628	chr1:72477474-72477475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375701997	chr1:72477509-72477510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4650127	chr1:72477520-72477521	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs531293399	chr1:72477529-72477530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113724573	chr1:72477554-72477555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570956032	chr1:72477582-72477583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138074189	chr1:72477628-72477629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553164276	chr1:72477653-72477654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566792902	chr1:72477654-72477655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79477710	chr1:72477681-72477682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149116829	chr1:72477790-72477791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565760311	chr1:72477794-72477795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116294354	chr1:72477828-72477829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7546373	chr1:72477903-72477904	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs1948060	chr1:72477916-72477917	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs12567329	chr1:72477924-72477925	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540394447	chr1:72477985-72477986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375212249	chr1:72477988-72477989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571147856	chr1:72478015-72478016	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538328806	chr1:72478066-72478067	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529182577	chr1:72478085-72478086	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542980557	chr1:72478097-72478098	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562336708	chr1:72478098-72478099	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12565657	chr1:72478099-72478100	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs551097937	chr1:72478112-72478113	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1948061	chr1:72478126-72478127	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs527403632	chr1:72478188-72478189	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs3102916	chr1:72478194-72478195	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs187411948	chr1:72478223-72478224	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574275921	chr1:72478281-72478282	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144738953	chr1:72478303-72478304	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138677910	chr1:72478336-72478337	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs56876687	chr1:72478347-72478348	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs375555820	chr1:72478391-72478392	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141997375	chr1:72478404-72478405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557884983	chr1:72478422-72478423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs578024909	chr1:72478481-72478482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147632951	chr1:72478499-72478500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368168942	chr1:72478500-72478501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191944653	chr1:72478501-72478502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12724549	chr1:72478511-72478512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374179258	chr1:72478515-72478516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185645441	chr1:72478524-72478525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375131531	chr1:72478525-72478526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
body mass index	19812545	CNVD
Obesity	20935630	CNVD
Breast cancer	22522925	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72473000-72478000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:72475400-72478400	Enhancers	Fetal Heart	heart
3	chr1:72475800-72486400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:72476000-72478000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:72476200-72488800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:72476400-72482400	Weak transcription	Left Ventricle	heart
7	chr1:72476800-72477400	Enhancers	Brain Anterior Caudate	brain
8	chr1:72477200-72478200	Enhancers	HSMMtube	muscle
9	chr1:72477400-72477600	Enhancers	HSMM	muscle
10	chr1:72477400-72477800	Weak transcription	Brain Anterior Caudate	brain
11	chr1:72477400-72478200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:72477800-72478200	Enhancers	Brain Anterior Caudate	brain
13	chr1:72478000-72478200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:72478000-72478400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:72478200-72478400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:72478400-72479400	Weak transcription	Fetal Heart	heart
17	chr1:72479400-72480200	Enhancers	Fetal Heart	heart
18	chr1:72482200-72482400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr1:72482600-72484000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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