Variant report

Variant	esv3366180
Chromosome Location	chr5:91601896-91605094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:91604939..91605782-chr5:91838804..91839362,2	MCF-7	breast:
2	chr5:90937781..90938429-chr5:91605031..91605835,2	MCF-7	breast:
3	chr5:91604865..91605951-chr5:92173616..92174632,4	MCF-7	breast:

Extended variants
information (count: 99 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534658094	chr5:91601947-91601948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113753623	chr5:91601957-91601958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193207797	chr5:91601959-91601960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72777049	chr5:91602012-91602013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs151055267	chr5:91602141-91602142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574944350	chr5:91602159-91602160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559859633	chr5:91602229-91602230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35750559	chr5:91602231-91602232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557293307	chr5:91602244-91602245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577920616	chr5:91602248-91602249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77934988	chr5:91602290-91602291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185593820	chr5:91602292-91602293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140130911	chr5:91602298-91602299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149368515	chr5:91602346-91602347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562961400	chr5:91602368-91602369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531797076	chr5:91602417-91602418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73131587	chr5:91602472-91602473	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs563750498	chr5:91602478-91602479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75572184	chr5:91602514-91602515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146890693	chr5:91602532-91602533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566575805	chr5:91602560-91602561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190110860	chr5:91602605-91602606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548849044	chr5:91602629-91602630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140713708	chr5:91602654-91602655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181613168	chr5:91602678-91602679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557354752	chr5:91602681-91602682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144618257	chr5:91602777-91602778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565538776	chr5:91602829-91602830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534259936	chr5:91602925-91602926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554425617	chr5:91602934-91602935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574191941	chr5:91602971-91602972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73131588	chr5:91602985-91602986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs556746699	chr5:91602988-91602989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115793404	chr5:91603035-91603036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545482633	chr5:91603065-91603066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574585261	chr5:91603067-91603068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565312082	chr5:91603126-91603127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149574965	chr5:91603129-91603130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183907931	chr5:91603199-91603200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540209929	chr5:91603221-91603222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145451449	chr5:91603230-91603231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561258801	chr5:91603244-91603245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4403206	chr5:91603258-91603259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs548770748	chr5:91603303-91603304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568684147	chr5:91603313-91603314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531322424	chr5:91603375-91603376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576550469	chr5:91603410-91603411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543631058	chr5:91603413-91603414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73773824	chr5:91603432-91603433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs570939276	chr5:91603477-91603478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:91601200-91604000	Weak transcription	A549	lung
2	chr5:91604000-91606000	Enhancers	A549	lung
3	chr5:91604000-91607200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:91604000-91607200	Enhancers	Fetal Heart	heart
5	chr5:91604200-91605000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:91604200-91605400	Enhancers	Fetal Lung	lung
7	chr5:91604200-91606400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:91604400-91606600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:91604600-91605800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:91604800-91605400	Enhancers	NHDF-Ad	bronchial

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