Variant report

Variant	esv3381592
Chromosome Location	chr1:192103079-192105677
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	chr1:192096436..192098789-chr1:192101804..192104049,2	K562	blood:

Extended variants
information (count: 114 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189389396	chr1:192103079-192103080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181359443	chr1:192103118-192103119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376823467	chr1:192103227-192103228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558173477	chr1:192103235-192103236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578249921	chr1:192103244-192103245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544072823	chr1:192103251-192103252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563858028	chr1:192103252-192103253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529480675	chr1:192103256-192103257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs61822353	chr1:192103267-192103268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373570416	chr1:192103268-192103269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61822354	chr1:192103269-192103270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs397982401	chr1:192103281-192103282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542372093	chr1:192103317-192103318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145773661	chr1:192103361-192103362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373575471	chr1:192103375-192103376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551353972	chr1:192103428-192103429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540631548	chr1:192103432-192103433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564876156	chr1:192103465-192103466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149435599	chr1:192103551-192103552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550387024	chr1:192103679-192103680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567147172	chr1:192103681-192103682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536007551	chr1:192103723-192103724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549218846	chr1:192103746-192103747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566119248	chr1:192103752-192103753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534758484	chr1:192103755-192103756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144772229	chr1:192103817-192103818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185683472	chr1:192103818-192103819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4618947	chr1:192103858-192103859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs557650897	chr1:192103876-192103877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189219964	chr1:192103900-192103901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373818570	chr1:192103910-192103911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372476297	chr1:192103911-192103912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs66591378	chr1:192103945-192103946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148133842	chr1:192103971-192103972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561463114	chr1:192103988-192103989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76211589	chr1:192103998-192103999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74320920	chr1:192103999-192104000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559225819	chr1:192104001-192104002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572884270	chr1:192104006-192104007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544711373	chr1:192104064-192104065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181620285	chr1:192104107-192104108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142989348	chr1:192104151-192104152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146088103	chr1:192104173-192104174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560809273	chr1:192104179-192104180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529852233	chr1:192104230-192104231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186863903	chr1:192104276-192104277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550395118	chr1:192104279-192104280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535104318	chr1:192104280-192104281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4540639	chr1:192104320-192104321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs571682218	chr1:192104340-192104341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192099600-192108000	Weak transcription	K562	blood
2	chr1:192102400-192103200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:192102400-192103400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:192105200-192105600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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