Variant report

Variant	esv2570583
Chromosome Location	chr1:211177091-211178674
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75985513	chr1:211177121-211177122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531523181	chr1:211177162-211177163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544106498	chr1:211177175-211177176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575722784	chr1:211177218-211177219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187385982	chr1:211177219-211177220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529082909	chr1:211177259-211177260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545148587	chr1:211177295-211177296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547229915	chr1:211177296-211177297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565791462	chr1:211177303-211177304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377477620	chr1:211177305-211177306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533027524	chr1:211177310-211177311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370990921	chr1:211177351-211177352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs56129158	chr1:211177361-211177362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs569650053	chr1:211177367-211177368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537376103	chr1:211177458-211177459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556013545	chr1:211177472-211177473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567808341	chr1:211177483-211177484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530152245	chr1:211177542-211177543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147284073	chr1:211177579-211177580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs56198727	chr1:211177676-211177677	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs10863874	chr1:211177696-211177697	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs556970554	chr1:211177723-211177724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189445183	chr1:211177757-211177758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527725672	chr1:211177775-211177776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565084880	chr1:211177860-211177861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180688550	chr1:211177904-211177905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185119296	chr1:211177911-211177912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189969017	chr1:211177948-211177949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552587781	chr1:211177956-211177957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541238887	chr1:211177959-211177960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182603880	chr1:211177971-211177972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533091815	chr1:211178006-211178007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140813706	chr1:211178036-211178037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112794848	chr1:211178058-211178059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538500541	chr1:211178059-211178060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12027535	chr1:211178147-211178148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs111254652	chr1:211178220-211178221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12123507	chr1:211178280-211178281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374458701	chr1:211178298-211178299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548653285	chr1:211178361-211178362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115171163	chr1:211178362-211178363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12030715	chr1:211178374-211178375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs546811038	chr1:211178413-211178414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370065599	chr1:211178415-211178416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532330624	chr1:211178423-211178424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186877544	chr1:211178460-211178461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367876450	chr1:211178467-211178468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35136205	chr1:211178518-211178519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557032108	chr1:211178524-211178525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530103418	chr1:211178527-211178528	Weak transcription	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
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
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
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211152800-211183400	Weak transcription	HSMMtube	muscle
2	chr1:211163800-211179400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:211168000-211180600	Weak transcription	HSMM	muscle
4	chr1:211168000-211181600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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