Variant report

Variant	esv3373289
Chromosome Location	chr1:90842564-90846962
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 293 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74102635	chr1:90843652-90843653	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558821562	chr1:90843664-90843665	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs530810660	chr1:90843707-90843708	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs534756864	chr1:90843713-90843714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs374542750	chr1:90843730-90843731	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs552966067	chr1:90843732-90843733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs75629845	chr1:90843808-90843809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs59951285	chr1:90843858-90843859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs372380729	chr1:90843859-90843860	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs551779633	chr1:90843876-90843877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs182706980	chr1:90843928-90843929	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs28766576	chr1:90843940-90843941	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs111448687	chr1:90843941-90843942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs186977980	chr1:90843942-90843943	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs532254395	chr1:90843989-90843990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs191729712	chr1:90844002-90844003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112736898	chr1:90844003-90844004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115309329	chr1:90844019-90844020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532991563	chr1:90844040-90844041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369115505	chr1:90844042-90844043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529690648	chr1:90844045-90844046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548931590	chr1:90844054-90844055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570317213	chr1:90844058-90844059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201797061	chr1:90844065-90844066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146809848	chr1:90844073-90844074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs5776050	chr1:90844075-90844076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376824589	chr1:90844079-90844080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113466156	chr1:90844080-90844081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144898019	chr1:90844090-90844091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35530494	chr1:90844101-90844102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35606502	chr1:90844103-90844104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563494191	chr1:90844108-90844109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570925536	chr1:90844109-90844110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183579102	chr1:90844112-90844113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12032844	chr1:90844116-90844117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200568573	chr1:90844139-90844140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200689799	chr1:90844144-90844145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28459728	chr1:90844146-90844147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34656233	chr1:90844148-90844149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568150931	chr1:90844155-90844156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535449735	chr1:90844159-90844160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28750213	chr1:90844174-90844175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28729595	chr1:90844176-90844177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35936846	chr1:90844204-90844205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28524551	chr1:90844212-90844213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552650346	chr1:90844229-90844230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528484661	chr1:90844231-90844232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568401370	chr1:90844232-90844233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28521642	chr1:90844234-90844235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557107476	chr1:90844255-90844256	Weak transcription	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:90843600-90844000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:90844000-90853000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:90846000-90848200	Enhancers	Stomach Mucosa	stomach

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