Variant report

Variant	esv3320995
Chromosome Location	chr1:192090736-192092186
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371611517	chr1:192090754-192090755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535247448	chr1:192090755-192090756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553709551	chr1:192090799-192090800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71493177	chr1:192090802-192090803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12059666	chr1:192090803-192090804	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs75957123	chr1:192090804-192090805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115183301	chr1:192090830-192090831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530667632	chr1:192090904-192090905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543951920	chr1:192090908-192090909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537216626	chr1:192090915-192090916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555798251	chr1:192090929-192090930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555175740	chr1:192090942-192090943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73059299	chr1:192090967-192090968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs111374467	chr1:192090974-192090975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532263937	chr1:192090991-192090992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543466876	chr1:192091061-192091062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552383089	chr1:192091093-192091094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140441778	chr1:192091139-192091140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538015469	chr1:192091163-192091164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35530755	chr1:192091193-192091194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150415757	chr1:192091196-192091197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567708846	chr1:192091280-192091281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12736318	chr1:192091291-192091292	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs146742624	chr1:192091346-192091347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563427004	chr1:192091460-192091461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs199703410	chr1:192091461-192091462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34055435	chr1:192091590-192091591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573623422	chr1:192091652-192091653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72730970	chr1:192091661-192091662	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs559137073	chr1:192091706-192091707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575772399	chr1:192091729-192091730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs72730971	chr1:192091770-192091771	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs574309034	chr1:192091819-192091820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541849799	chr1:192091875-192091876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529695704	chr1:192091877-192091878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184211253	chr1:192091890-192091891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559701906	chr1:192091972-192091973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544850495	chr1:192091988-192091989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149191924	chr1:192091994-192091995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77721177	chr1:192092021-192092022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536506796	chr1:192092022-192092023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs367594295	chr1:192092132-192092133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371470353	chr1:192092169-192092170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192088800-192091400	Weak transcription	HUVEC	blood vessel
2	chr1:192090600-192094200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:192091400-192091800	Enhancers	HUVEC	blood vessel
4	chr1:192091600-192092400	Enhancers	K562	blood
5	chr1:192091800-192095200	Weak transcription	HUVEC	blood vessel

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