Variant report

Variant	nsv947123
Chromosome Location	chr1:103201874-103207664
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 186 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:186 , 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	rs549705248	chr1:103201908-103201909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539426367	chr1:103201912-103201913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560856735	chr1:103201951-103201952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561515920	chr1:103201975-103201976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557385598	chr1:103201978-103201979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528916689	chr1:103201997-103201998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575755650	chr1:103202052-103202053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113220903	chr1:103202064-103202065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187838876	chr1:103202066-103202067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192360795	chr1:103202078-103202079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541358447	chr1:103202094-103202095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368385060	chr1:103202105-103202106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560035736	chr1:103202111-103202112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577919586	chr1:103202124-103202125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545405261	chr1:103202134-103202135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146801017	chr1:103202136-103202137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531009888	chr1:103202180-103202181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549527246	chr1:103202228-103202229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561859195	chr1:103202241-103202242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183734921	chr1:103202258-103202259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547332550	chr1:103202325-103202326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372387326	chr1:103202327-103202328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565965770	chr1:103202406-103202407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139506244	chr1:103202433-103202434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543804865	chr1:103202462-103202463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9970837	chr1:103202463-103202464	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs569349334	chr1:103202479-103202480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187521811	chr1:103202482-103202483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555090135	chr1:103202517-103202518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574142941	chr1:103202542-103202543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74866136	chr1:103202603-103202604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553361323	chr1:103202620-103202621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs193000943	chr1:103202724-103202725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142875456	chr1:103202758-103202759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552311281	chr1:103202794-103202795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184702532	chr1:103202799-103202800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371846385	chr1:103202802-103202803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs151055803	chr1:103202839-103202840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563651735	chr1:103202854-103202855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575752313	chr1:103202881-103202882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189694066	chr1:103202883-103202884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75845474	chr1:103202916-103202917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529031408	chr1:103202925-103202926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140838386	chr1:103202937-103202938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368889495	chr1:103202938-103202939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181739597	chr1:103202946-103202947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150149999	chr1:103203026-103203027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569762508	chr1:103203047-103203048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551291150	chr1:103203056-103203057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559985300	chr1:103203080-103203081	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
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103200400-103202000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:103202000-103202200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:103202200-103203000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:103203000-103203600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:103203600-103204400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:103204400-103204600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:103205400-103206200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:103205600-103206000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:103206200-103207800	Weak transcription	Muscle Satellite Cultured Cells	--

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