Variant report

Variant	esv3441511
Chromosome Location	chr1:103203064-103205962
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559985300	chr1:103203080-103203081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569309717	chr1:103203094-103203095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138338646	chr1:103203098-103203099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1376359	chr1:103203107-103203108	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
5	rs61812114	chr1:103203109-103203110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555263872	chr1:103203114-103203115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548630293	chr1:103203167-103203168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147818660	chr1:103203205-103203206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534869503	chr1:103203210-103203211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189538198	chr1:103203228-103203229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571773218	chr1:103203270-103203271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141490144	chr1:103203405-103203406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534731907	chr1:103203417-103203418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557726440	chr1:103203435-103203436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs367602824	chr1:103203437-103203438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181879942	chr1:103203449-103203450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369542934	chr1:103203490-103203491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376627052	chr1:103203524-103203525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543045756	chr1:103203530-103203531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554736857	chr1:103203553-103203554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552926832	chr1:103203574-103203575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573303740	chr1:103203575-103203576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540406675	chr1:103203581-103203582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115187979	chr1:103203599-103203600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185425174	chr1:103203602-103203603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373022769	chr1:103203632-103203633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544896095	chr1:103203685-103203686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs578082688	chr1:103203808-103203809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74562727	chr1:103203823-103203824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147008036	chr1:103203838-103203839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530381481	chr1:103203865-103203866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548582138	chr1:103203867-103203868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs137919769	chr1:103203871-103203872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9970165	chr1:103203880-103203881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190772490	chr1:103203917-103203918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528165056	chr1:103203938-103203939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149445860	chr1:103203949-103203950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72996245	chr1:103203966-103203967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539244010	chr1:103203975-103203976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557640373	chr1:103203979-103203980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569591837	chr1:103204058-103204059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536615988	chr1:103204060-103204061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77470789	chr1:103204102-103204103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9970452	chr1:103204212-103204213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181572405	chr1:103204234-103204235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540718501	chr1:103204244-103204245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186354408	chr1:103204261-103204262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191308996	chr1:103204300-103204301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143089402	chr1:103204359-103204360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182935303	chr1:103204385-103204386	Weak transcription	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:5 , 50 per page) page: 1

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

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