Variant report

Variant	esv3509582
Chromosome Location	chr8:115079207-115080790
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28404904	chr8:115079209-115079210	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182748604	chr8:115079229-115079230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371131026	chr8:115079255-115079256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34025467	chr8:115079391-115079392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186565689	chr8:115079403-115079404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191347419	chr8:115079425-115079426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34511389	chr8:115079428-115079429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs71566053	chr8:115079431-115079432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534626501	chr8:115079445-115079446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148014054	chr8:115079459-115079460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184558661	chr8:115079461-115079462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141717947	chr8:115079492-115079493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537695095	chr8:115079494-115079495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556379961	chr8:115079523-115079524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79343728	chr8:115079605-115079606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187777244	chr8:115079640-115079641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193154332	chr8:115079643-115079644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150565299	chr8:115079692-115079693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527751912	chr8:115079742-115079743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139597653	chr8:115079753-115079754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572544669	chr8:115079788-115079789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370850929	chr8:115079789-115079790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577277701	chr8:115079800-115079801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539472500	chr8:115079828-115079829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553412921	chr8:115079836-115079837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533303523	chr8:115079892-115079893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372984436	chr8:115079924-115079925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550093464	chr8:115079929-115079930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77994160	chr8:115079934-115079935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529083268	chr8:115079969-115079970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548869617	chr8:115079970-115079971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565788311	chr8:115079988-115079989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116046494	chr8:115080005-115080006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557745582	chr8:115080085-115080086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75960789	chr8:115080105-115080106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs71287229	chr8:115080114-115080115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs58804956	chr8:115080129-115080130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539791064	chr8:115080179-115080180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142944612	chr8:115080236-115080237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs13268744	chr8:115080317-115080318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551644920	chr8:115080319-115080320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185294400	chr8:115080382-115080383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189748766	chr8:115080438-115080439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370208424	chr8:115080474-115080475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572510111	chr8:115080497-115080498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541154701	chr8:115080560-115080561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560351767	chr8:115080614-115080615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368368573	chr8:115080676-115080677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564516848	chr8:115080686-115080687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181169461	chr8:115080717-115080718	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
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
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
Schizophrenia	20967226	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115077400-115083000	Enhancers	Dnd41	blood
2	chr8:115080600-115081200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr8:115080600-115081400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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