Variant report

Variant	esv3423188
Chromosome Location	chr8:115600576-115604974
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	chr8:115598053..115599853-chr8:115604312..115606791,3	MCF-7	breast:

Extended variants
information (count: 125 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185637784	chr8:115601001-115601002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs72688154	chr8:115601018-115601019	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs190103631	chr8:115601031-115601032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529113968	chr8:115601059-115601060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550592029	chr8:115601070-115601071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569178546	chr8:115601082-115601083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372734320	chr8:115601199-115601200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533078648	chr8:115601231-115601232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551757550	chr8:115601263-115601264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566885481	chr8:115601293-115601294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574199515	chr8:115601297-115601298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534255688	chr8:115601334-115601335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543169353	chr8:115601358-115601359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555922437	chr8:115601362-115601363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567740846	chr8:115601385-115601386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140621	chr8:115601414-115601415	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs140622	chr8:115601419-115601420	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs140623	chr8:115601454-115601455	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs202191605	chr8:115601470-115601471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557297719	chr8:115601471-115601472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376960165	chr8:115601478-115601479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539918662	chr8:115601485-115601486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561486316	chr8:115601529-115601530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529075378	chr8:115601565-115601566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564041147	chr8:115601628-115601629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544347083	chr8:115601632-115601633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562549356	chr8:115601639-115601640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs57618910	chr8:115601640-115601641	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs527921842	chr8:115601641-115601642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs58824123	chr8:115601673-115601674	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs369139291	chr8:115601751-115601752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560484211	chr8:115601767-115601768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527719212	chr8:115601803-115601804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181651347	chr8:115601828-115601829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185368590	chr8:115601831-115601832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74719570	chr8:115601912-115601913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188720553	chr8:115601950-115601951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571764843	chr8:115601954-115601955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180801601	chr8:115601955-115601956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140007393	chr8:115601974-115601975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149653886	chr8:115602005-115602006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529621271	chr8:115602040-115602041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372912816	chr8:115602051-115602052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533588367	chr8:115602059-115602060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145464475	chr8:115602068-115602069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573639306	chr8:115602190-115602191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543986587	chr8:115602191-115602192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373365166	chr8:115602218-115602219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562673574	chr8:115602231-115602232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577939203	chr8:115602240-115602241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115601000-115601800	Enhancers	Dnd41	blood
2	chr8:115601800-115604200	Weak transcription	Dnd41	blood
3	chr8:115604200-115606400	Enhancers	Dnd41	blood

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