Variant report

Variant	esv999604
Chromosome Location	chr8:105978247-105989955
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:105986775..105989189-chr8:105989318..105991553,2	MCF-7	breast:
2	chr8:105985920..105987592-chr8:105991269..105993272,2	K562	blood:
3	chr8:105986775..105989189-chr8:105989318..105991553,2	MCF-7	breast:

Extended variants
information (count: 183 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540615844	chr8:105979207-105979208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76899532	chr8:105979209-105979210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533038876	chr8:105979231-105979232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs3107535	chr8:105979238-105979239	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs555813287	chr8:105979250-105979251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs3134467	chr8:105979256-105979257	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs548912740	chr8:105979264-105979265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568530000	chr8:105979289-105979290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372859297	chr8:105979322-105979323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544836172	chr8:105979363-105979364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535998908	chr8:105979387-105979388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554183238	chr8:105979523-105979524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188780790	chr8:105979531-105979532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146681212	chr8:105979544-105979545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191797933	chr8:105981005-105981006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10505069	chr8:105981021-105981022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74969491	chr8:105981025-105981026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374708889	chr8:105981112-105981113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533306378	chr8:105981135-105981136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112754280	chr8:105981152-105981153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs151258758	chr8:105981160-105981161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35315136	chr8:105981240-105981241	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs549234493	chr8:105981253-105981254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567643106	chr8:105981270-105981271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530803635	chr8:105981277-105981278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370478971	chr8:105981278-105981279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534844423	chr8:105981305-105981306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140424890	chr8:105981323-105981324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577313963	chr8:105981337-105981338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538380402	chr8:105981347-105981348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12674601	chr8:105981384-105981385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189614894	chr8:105981385-105981386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542629755	chr8:105981399-105981400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147063721	chr8:105981418-105981419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570269994	chr8:105981432-105981433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573183461	chr8:105981444-105981445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540420748	chr8:105981445-105981446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375296298	chr8:105981484-105981485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34776652	chr8:105981491-105981492	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs73293027	chr8:105981534-105981535	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs563822996	chr8:105981555-105981556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138370245	chr8:105981640-105981641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548970740	chr8:105981692-105981693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs193092240	chr8:105981720-105981721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558312560	chr8:105981757-105981758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs71299121	chr8:105981758-105981759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs80284088	chr8:105981760-105981761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200230737	chr8:105981768-105981769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566539709	chr8:105981771-105981772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs72113579	chr8:105981774-105981775	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	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
Cancer	20164919	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
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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	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
small cell lung cancer	20016488	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Oral squamous cell carcinoma	21853135	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105979200-105979600	Enhancers	NH-A	brain
2	chr8:105981000-105982000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr8:105984000-105985200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:105987000-105988600	Enhancers	HUVEC	blood vessel
5	chr8:105987200-105987400	Enhancers	Hela-S3	cervix
6	chr8:105987600-105988400	Enhancers	NH-A	brain
7	chr8:105987600-105988800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:105987800-105988200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:105987800-105988600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr8:105988000-105988200	Enhancers	Hela-S3	cervix

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