Variant report

Variant	esv3452407
Chromosome Location	chr1:102096505-102098902
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533503647	chr1:102096577-102096578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs180948824	chr1:102096619-102096620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553974150	chr1:102096623-102096624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201652263	chr1:102096659-102096660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562961374	chr1:102096677-102096678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551834085	chr1:102096706-102096707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184306054	chr1:102096731-102096732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141442269	chr1:102096743-102096744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531155962	chr1:102096747-102096748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549274101	chr1:102096856-102096857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567627553	chr1:102096863-102096864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189106952	chr1:102096866-102096867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553393154	chr1:102096876-102096877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369840805	chr1:102096915-102096916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6577263	chr1:102096917-102096918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539338418	chr1:102096975-102096976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576024663	chr1:102096989-102096990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6677725	chr1:102097028-102097029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs56140505	chr1:102097036-102097037	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs111419874	chr1:102097044-102097045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181505476	chr1:102097050-102097051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559817274	chr1:102097073-102097074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs578055470	chr1:102097093-102097094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186342272	chr1:102097112-102097113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150856126	chr1:102097129-102097130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530868095	chr1:102097163-102097164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138020709	chr1:102097167-102097168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561139046	chr1:102097204-102097205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs66488315	chr1:102097260-102097261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs57461957	chr1:102097261-102097262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs398053286	chr1:102097268-102097269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376085418	chr1:102097269-102097270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528794768	chr1:102097277-102097278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149518083	chr1:102097279-102097280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552886715	chr1:102097307-102097308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539436781	chr1:102097318-102097319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531583104	chr1:102097359-102097360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569737079	chr1:102097402-102097403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548381332	chr1:102097419-102097420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577368145	chr1:102097435-102097436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536742119	chr1:102097464-102097465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555639067	chr1:102097470-102097471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189101153	chr1:102097483-102097484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534942349	chr1:102097490-102097491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201233151	chr1:102097492-102097493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369921534	chr1:102097493-102097494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542080727	chr1:102097562-102097563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577825644	chr1:102097568-102097569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545392970	chr1:102097618-102097619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78693559	chr1:102097644-102097645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
low-grade B-cell lymphoma tumor	18367492	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
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:102095600-102098000	Weak transcription	Fetal Heart	heart
2	chr1:102097800-102099200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr1:102097800-102099200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr1:102098000-102098200	Enhancers	Fetal Heart	heart
5	chr1:102098000-102098400	Enhancers	H9 Cell Line	embryonic stem cell
6	chr1:102098000-102098600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:102098000-102098800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr1:102098000-102099000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:102098000-102099000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:102098000-102099200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:102098200-102098600	Weak transcription	Fetal Heart	heart
12	chr1:102098200-102098800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:102098200-102098800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:102098200-102099000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr1:102098200-102099000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:102098600-102098800	Enhancers	Fetal Heart	heart
17	chr1:102098800-102100600	Weak transcription	Fetal Heart	heart

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