Variant report

Variant	esv3412015
Chromosome Location	chr8:115089376-115093474
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 151 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:151 , 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	rs372374527	chr8:115089434-115089435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564656150	chr8:115089455-115089456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146868569	chr8:115089467-115089468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543870797	chr8:115089512-115089513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376866079	chr8:115089550-115089551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560928519	chr8:115089595-115089596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12546609	chr8:115089605-115089606	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs549674673	chr8:115089616-115089617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560022177	chr8:115089618-115089619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528712062	chr8:115089626-115089627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551976434	chr8:115089659-115089660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571654065	chr8:115089664-115089665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540465863	chr8:115089669-115089670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs72679700	chr8:115089691-115089692	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs531841756	chr8:115089759-115089760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550740367	chr8:115089769-115089770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550373051	chr8:115089784-115089785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377052349	chr8:115089835-115089836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192124879	chr8:115089845-115089846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536184898	chr8:115089869-115089870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10092930	chr8:115089873-115089874	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs572769283	chr8:115089903-115089904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542878909	chr8:115089914-115089915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374069927	chr8:115089918-115089919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183198847	chr8:115089919-115089920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375385017	chr8:115090002-115090003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558287268	chr8:115090012-115090013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369400843	chr8:115090048-115090049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs71287230	chr8:115090049-115090050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150278313	chr8:115090050-115090051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs398009453	chr8:115090070-115090071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575282319	chr8:115090082-115090083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544290130	chr8:115090145-115090146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113194052	chr8:115090152-115090153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574356951	chr8:115090161-115090162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528375305	chr8:115090231-115090232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6994880	chr8:115090254-115090255	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs562864635	chr8:115090266-115090267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs57078251	chr8:115090340-115090341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs397818320	chr8:115090349-115090350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145193231	chr8:115090374-115090375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528748957	chr8:115090396-115090397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs72679701	chr8:115090432-115090433	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs565468221	chr8:115090446-115090447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111612743	chr8:115090504-115090505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551032452	chr8:115090519-115090520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567589991	chr8:115090582-115090583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370762662	chr8:115090620-115090621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191890747	chr8:115090636-115090637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546564079	chr8:115090666-115090667	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115084600-115091000	Enhancers	Dnd41	blood
2	chr8:115087600-115089800	Enhancers	Primary T cells from cord blood	blood
3	chr8:115089000-115089800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:115089200-115089600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:115089200-115089600	Enhancers	Primary hematopoietic stem cells	blood
6	chr8:115089200-115089600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr8:115089200-115089800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:115089600-115090000	Enhancers	Fetal Thymus	thymus
9	chr8:115091000-115096200	Weak transcription	Dnd41	blood

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