Variant report

Variant	esv3419363
Chromosome Location	chr1:191596779-191598677
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	chr1:191592940..191595945-chr1:191597443..191599181,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201677706	chr1:191597419-191597420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565000373	chr1:191597433-191597434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138163245	chr1:191597475-191597476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187977207	chr1:191597492-191597493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561121649	chr1:191597528-191597529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530027060	chr1:191597530-191597531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75364756	chr1:191597573-191597574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566681933	chr1:191597582-191597583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552479730	chr1:191597586-191597587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1572475	chr1:191597611-191597612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs551840100	chr1:191597638-191597639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571448879	chr1:191597703-191597704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535784926	chr1:191597718-191597719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12132773	chr1:191597785-191597786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs192405239	chr1:191597786-191597787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535114089	chr1:191597878-191597879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573953153	chr1:191597898-191597899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536964527	chr1:191597940-191597941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183830247	chr1:191597946-191597947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557187253	chr1:191597965-191597966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567905445	chr1:191597967-191597968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1013921	chr1:191597982-191597983	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs550161603	chr1:191598003-191598004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571821944	chr1:191598009-191598010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188273074	chr1:191598025-191598026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570796003	chr1:191598037-191598038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538231040	chr1:191598039-191598040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181404910	chr1:191598129-191598130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74427125	chr1:191598201-191598202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369569751	chr1:191598213-191598214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184820142	chr1:191598248-191598249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538816124	chr1:191598250-191598251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190094140	chr1:191598251-191598252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553873677	chr1:191598256-191598257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544188319	chr1:191598410-191598411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144189293	chr1:191598498-191598499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560885082	chr1:191598528-191598529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148664121	chr1:191598667-191598668	Weak transcription	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	chr1:191597400-191599000	Weak transcription	Pancreas	Pancrea

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