Variant report

Variant	esv3438162
Chromosome Location	chr8:52611199-52615497
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 178 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:178 , 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	rs556452679	chr8:52611226-52611227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114083472	chr8:52611234-52611235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138961005	chr8:52611242-52611243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10091454	chr8:52611254-52611255	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs72642948	chr8:52611281-52611282	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs545614509	chr8:52611373-52611374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10106091	chr8:52611394-52611395	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs182109168	chr8:52611459-52611460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539011240	chr8:52611497-52611498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185907128	chr8:52611525-52611526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569165674	chr8:52611561-52611562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114271929	chr8:52611590-52611591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555760700	chr8:52611614-52611615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548148455	chr8:52611627-52611628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566553116	chr8:52611628-52611629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576280790	chr8:52611630-52611631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374359150	chr8:52611652-52611653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534293457	chr8:52611693-52611694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558833853	chr8:52611715-52611716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13270001	chr8:52611722-52611723	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs191552502	chr8:52611762-52611763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115828499	chr8:52611774-52611775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574757916	chr8:52611793-52611794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542173108	chr8:52611846-52611847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553787175	chr8:52611856-52611857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35484637	chr8:52611892-52611893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571987071	chr8:52612092-52612093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142879615	chr8:52612102-52612103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147047056	chr8:52612137-52612138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34166264	chr8:52612144-52612145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111881289	chr8:52612157-52612158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182872304	chr8:52612165-52612166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188736071	chr8:52612170-52612171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562762345	chr8:52612171-52612172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374559434	chr8:52612181-52612182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548514073	chr8:52612187-52612188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560115038	chr8:52612203-52612204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527641750	chr8:52612248-52612249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148086178	chr8:52612257-52612258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141816521	chr8:52612259-52612260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570823422	chr8:52612264-52612265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113387826	chr8:52612295-52612296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56152651	chr8:52612301-52612302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs549980170	chr8:52612304-52612305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568296505	chr8:52612318-52612319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72642949	chr8:52612366-52612367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs78779687	chr8:52612392-52612393	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
48	rs572306373	chr8:52612399-52612400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539022633	chr8:52612454-52612455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191941944	chr8:52612467-52612468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52606000-52614200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr8:52609400-52614400	Weak transcription	Right Atrium	heart
3	chr8:52610000-52611600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:52611600-52614000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:52614000-52614600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:52614200-52614400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:52614400-52614800	Enhancers	Right Atrium	heart
8	chr8:52614400-52615000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:52614600-52614800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:52614800-52615000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:52614800-52615200	Enhancers	Psoas Muscle	Psoas
12	chr8:52614800-52615200	Active TSS	Right Atrium	heart
13	chr8:52614800-52615400	Enhancers	Adipose Nuclei	Adipose
14	chr8:52615000-52615200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:52615000-52615400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:52615200-52615400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:52615400-52615600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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