Variant report

Variant	nsv946147
Chromosome Location	chr1:104482215-104490017
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 161 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555014680	chr1:104483810-104483811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs3849298	chr1:104483838-104483839	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs541327982	chr1:104483839-104483840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529155553	chr1:104483895-104483896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543570130	chr1:104483897-104483898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4520426	chr1:104483941-104483942	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs578199371	chr1:104483973-104483974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7554165	chr1:104483975-104483976	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs188763102	chr1:104483987-104483988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200654797	chr1:104484004-104484005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530981206	chr1:104484042-104484043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192693049	chr1:104484069-104484070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561094012	chr1:104484084-104484085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116524396	chr1:104484089-104484090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7545401	chr1:104484099-104484100	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs565684668	chr1:104484102-104484103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532953352	chr1:104484180-104484181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150137092	chr1:104484217-104484218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185035065	chr1:104484233-104484234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138569225	chr1:104484237-104484238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555454904	chr1:104484247-104484248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567136160	chr1:104484343-104484344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551284	chr1:104484407-104484408	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs370776637	chr1:104484410-104484411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs578259570	chr1:104484428-104484429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545723762	chr1:104484431-104484432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115718695	chr1:104484472-104484473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78691055	chr1:104484485-104484486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542742598	chr1:104484500-104484501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149330330	chr1:104484501-104484502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs662162	chr1:104484628-104484629	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs548714	chr1:104484630-104484631	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs564948551	chr1:104484634-104484635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs61816494	chr1:104484650-104484651	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs530885562	chr1:104484665-104484666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372326781	chr1:104484666-104484667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77810808	chr1:104484680-104484681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11465131	chr1:104484681-104484682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79476985	chr1:104484682-104484683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75359743	chr1:104484683-104484684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144575450	chr1:104484713-104484714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530767135	chr1:104484775-104484776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548779630	chr1:104484783-104484784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567399415	chr1:104484834-104484835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534311428	chr1:104484846-104484847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546576938	chr1:104484919-104484920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7548445	chr1:104484934-104484935	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs539306799	chr1:104484947-104484948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7516686	chr1:104484953-104484954	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs575888555	chr1:104484973-104484974	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:104483800-104484800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:104483800-104485800	Enhancers	Fetal Lung	lung
3	chr1:104484000-104484400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:104484200-104485000	Enhancers	Pancreas	Pancrea
5	chr1:104485400-104486000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr1:104485800-104487400	Weak transcription	Fetal Lung	lung
7	chr1:104487400-104487600	Enhancers	Fetal Lung	lung
8	chr1:104488400-104488600	Enhancers	H9 Cell Line	embryonic stem cell
9	chr1:104488600-104488800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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