Variant report

Variant	esv3437711
Chromosome Location	chr1:90799514-90801712
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75516971	chr1:90799529-90799530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570143467	chr1:90799536-90799537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537604992	chr1:90799547-90799548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144857493	chr1:90799559-90799560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191541704	chr1:90799569-90799570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535029411	chr1:90799590-90799591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183689214	chr1:90799600-90799601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572330552	chr1:90799618-90799619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566792219	chr1:90799634-90799635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74603905	chr1:90799645-90799646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs202139688	chr1:90799757-90799758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146770065	chr1:90799765-90799766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369980411	chr1:90799809-90799810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4578202	chr1:90799813-90799814	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs140930414	chr1:90799814-90799815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150182503	chr1:90799829-90799830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188749829	chr1:90799839-90799840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72957000	chr1:90799840-90799841	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs548614515	chr1:90799856-90799857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76765580	chr1:90799873-90799874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531152806	chr1:90799876-90799877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552768422	chr1:90799888-90799889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4548420	chr1:90799890-90799891	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs535097584	chr1:90799912-90799913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181125081	chr1:90799919-90799920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78146669	chr1:90800053-90800054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560176925	chr1:90800146-90800147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535800493	chr1:90800149-90800150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554569666	chr1:90800151-90800152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575902505	chr1:90800178-90800179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535499679	chr1:90801085-90801086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76076475	chr1:90801122-90801123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552816990	chr1:90801149-90801150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574442049	chr1:90801179-90801180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371587561	chr1:90801195-90801196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569456302	chr1:90801203-90801204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7518543	chr1:90801258-90801259	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs556972954	chr1:90801356-90801357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576052045	chr1:90801357-90801358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546507436	chr1:90801376-90801377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564728172	chr1:90801377-90801378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560119432	chr1:90801423-90801424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576787848	chr1:90801437-90801438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190803360	chr1:90801461-90801462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540792211	chr1:90801463-90801464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138722515	chr1:90801477-90801478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529368271	chr1:90801480-90801481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182268683	chr1:90801528-90801529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568902730	chr1:90801551-90801552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374395830	chr1:90801581-90801582	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Medulloblastoma	21979893	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21922591	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:90798400-90799600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:90799400-90800000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:90799800-90800200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr1:90801000-90802000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:90801200-90801600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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