Variant report

Variant	esv20492
Chromosome Location	chr8:4953041-4962888
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140611359	chr8:4958050-4958051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549773704	chr8:4958055-4958056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185950288	chr8:4958077-4958078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1377878	chr8:4958092-4958093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541602776	chr8:4958097-4958098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73505387	chr8:4958107-4958108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374482152	chr8:4958109-4958110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559528009	chr8:4958111-4958112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192035747	chr8:4958112-4958113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570592577	chr8:4958122-4958123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62489553	chr8:4958124-4958125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76204212	chr8:4958127-4958128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183976318	chr8:4958131-4958132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574803604	chr8:4958133-4958134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536101051	chr8:4958135-4958136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1377879	chr8:4958139-4958140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371115966	chr8:4958141-4958142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572641766	chr8:4958162-4958163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144613479	chr8:4958184-4958185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372179261	chr8:4958188-4958189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546066760	chr8:4958195-4958196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114195176	chr8:4958200-4958201	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs375599678	chr8:4958202-4958203	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs576170823	chr8:4958218-4958219	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs543451077	chr8:4958220-4958221	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs117368020	chr8:4958255-4958256	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs528877142	chr8:4958269-4958270	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs188518166	chr8:4958270-4958271	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs559368801	chr8:4958274-4958275	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs533178423	chr8:4958279-4958280	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs149094061	chr8:4958285-4958286	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs79687600	chr8:4958293-4958294	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs570630876	chr8:4958304-4958305	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs115615523	chr8:4958349-4958350	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs1377880	chr8:4958358-4958359	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	mRNA abundance
36	rs535473271	chr8:4958361-4958362	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs115157371	chr8:4958397-4958398	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs564375407	chr8:4962624-4962625	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs533016337	chr8:4962631-4962632	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs536633801	chr8:4962648-4962649	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs35964505	chr8:4962660-4962661	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs118133399	chr8:4962666-4962667	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs76557636	chr8:4962668-4962669	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs544027768	chr8:4962698-4962699	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs575385067	chr8:4962707-4962708	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs150090253	chr8:4962709-4962710	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs181141771	chr8:4962724-4962725	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs144186353	chr8:4962725-4962726	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs555593069	chr8:4962733-4962734	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs73507309	chr8:4962751-4962752	Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:124)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Type 2 diabetes	21526130	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4958000-4958200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:4958200-4958400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:4962600-4962800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell

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