Variant report

Variant	esv3337218
Chromosome Location	chr1:191162879-191164877
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:191157793..191160088-chr1:191162179..191165102,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146340623	chr1:191162881-191162882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368169708	chr1:191162886-191162887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72740440	chr1:191162902-191162903	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs533143613	chr1:191162923-191162924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543554667	chr1:191162924-191162925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181897464	chr1:191162934-191162935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138187863	chr1:191162966-191162967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185585160	chr1:191162995-191162996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142781479	chr1:191163026-191163027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566924606	chr1:191163049-191163050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200698626	chr1:191163060-191163061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190309857	chr1:191163104-191163105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375046960	chr1:191163113-191163114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552095128	chr1:191163117-191163118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181036990	chr1:191163140-191163141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536999493	chr1:191163190-191163191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114229749	chr1:191163218-191163219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185922702	chr1:191163288-191163289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190436491	chr1:191163292-191163293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553163439	chr1:191163300-191163301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572934303	chr1:191163358-191163359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544941037	chr1:191163371-191163372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558423228	chr1:191163374-191163375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548919721	chr1:191163379-191163380	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191162800-191163400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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