Variant report

Variant	esv18474
Chromosome Location	chr8:39885677-39890411
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	chr8:39888083..39889801-chr8:39978638..39980642,2	K562	blood:
2	chr8:39847306..39847882-chr8:39889215..39889726,2	MCF-7	breast:

Extended variants
information (count: 86 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572090315	chr8:39886400-39886401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190748261	chr8:39886434-39886435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546813134	chr8:39886464-39886465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529991498	chr8:39886471-39886472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377385837	chr8:39886482-39886483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147561759	chr8:39886497-39886498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs13257645	chr8:39886535-39886536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568182858	chr8:39886595-39886596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549094446	chr8:39886598-39886599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1986745	chr8:39886628-39886629	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs577599658	chr8:39886693-39886694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565870896	chr8:39886699-39886700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534675567	chr8:39886700-39886701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548338802	chr8:39886718-39886719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116056879	chr8:39886736-39886737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142100629	chr8:39886746-39886747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183318527	chr8:39886769-39886770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143087405	chr8:39886787-39886788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538705475	chr8:39886789-39886790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573056036	chr8:39889208-39889209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529633044	chr8:39889227-39889228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78390295	chr8:39889257-39889258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540392185	chr8:39889289-39889290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190992727	chr8:39889300-39889301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530495091	chr8:39889340-39889341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550278394	chr8:39889350-39889351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35844645	chr8:39889351-39889352	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570145710	chr8:39889367-39889368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546624589	chr8:39889372-39889373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112501514	chr8:39889373-39889374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2981184	chr8:39889399-39889400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112986562	chr8:39889416-39889417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75386109	chr8:39889427-39889428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182324331	chr8:39889478-39889479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538071510	chr8:39889497-39889498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2955867	chr8:39889550-39889551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200617171	chr8:39889553-39889554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111798724	chr8:39889555-39889556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs67640657	chr8:39889556-39889557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199852195	chr8:39889557-39889558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs71220816	chr8:39889558-39889559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13267864	chr8:39889559-39889560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569831080	chr8:39889561-39889562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs13267877	chr8:39889566-39889567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs13271076	chr8:39889567-39889568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558258368	chr8:39889574-39889575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375850858	chr8:39889575-39889576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs13271088	chr8:39889577-39889578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs62511442	chr8:39889583-39889584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201549902	chr8:39889584-39889585	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	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
Colorectal cancer	16272173	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
Melanoma	18172304	CNVD
Medulloblastoma	21979893	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
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
abnormal development	18461090	CNVD
Rhabdomyosarcoma	16790082	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Medulloblastoma	19270706	CNVD
Cancer	20164919	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39886400-39886800	Enhancers	Brain Germinal Matrix	brain
2	chr8:39889200-39890600	Enhancers	A549	lung

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