Variant report

Variant	esv3432784
Chromosome Location	chr1:189605079-189607077
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575190338	chr1:189606005-189606006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532451721	chr1:189606007-189606008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567455703	chr1:189606030-189606031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545576281	chr1:189606045-189606046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73049597	chr1:189606114-189606115	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs12239738	chr1:189606141-189606142	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs534772946	chr1:189606150-189606151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558086637	chr1:189606177-189606178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577996431	chr1:189606279-189606280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs59409561	chr1:189606285-189606286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115560937	chr1:189606306-189606307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78592386	chr1:189606349-189606350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542376608	chr1:189606365-189606366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73049600	chr1:189606407-189606408	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs374094372	chr1:189606426-189606427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528684256	chr1:189606458-189606459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545583364	chr1:189606462-189606463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114904496	chr1:189606483-189606484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531094540	chr1:189606552-189606553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188430773	chr1:189606554-189606555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567345443	chr1:189606616-189606617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530069986	chr1:189606639-189606640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138618483	chr1:189606658-189606659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566910452	chr1:189606665-189606666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551188049	chr1:189606685-189606686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73049602	chr1:189606686-189606687	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs551267772	chr1:189606687-189606688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192897539	chr1:189606706-189606707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571597385	chr1:189606710-189606711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112791839	chr1:189606723-189606724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557263219	chr1:189606736-189606737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112231748	chr1:189606753-189606754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189273541	chr1:189606757-189606758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552841819	chr1:189606763-189606764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572888031	chr1:189606797-189606798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148564279	chr1:189606828-189606829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79492758	chr1:189606867-189606868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530982589	chr1:189606872-189606873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192369043	chr1:189606882-189606883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141924018	chr1:189606885-189606886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147326714	chr1:189606920-189606921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141011973	chr1:189606932-189606933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184784930	chr1:189606936-189606937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74138451	chr1:189606973-189606974	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs551626732	chr1:189606981-189606982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555800263	chr1:189607006-189607007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571487394	chr1:189607029-189607030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144652410	chr1:189607054-189607055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189006037	chr1:189607072-189607073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Ewing''s sarcoma	17952124	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
Breast cancer	17899364	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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189606000-189606800	Enhancers	A549	lung
2	chr1:189606200-189606600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:189606400-189606800	Enhancers	Fetal Intestine Small	intestine
4	chr1:189606800-189610400	Weak transcription	Fetal Intestine Small	intestine

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