Variant report

Variant	esv3425977
Chromosome Location	chr8:53349999-53352897
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 130 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181679240	chr8:53350008-53350009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141692879	chr8:53350077-53350078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35045131	chr8:53350083-53350084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554315600	chr8:53350097-53350098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186429893	chr8:53350110-53350111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150496417	chr8:53350173-53350174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564238341	chr8:53350175-53350176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570719366	chr8:53350194-53350195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376812215	chr8:53350227-53350228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112304477	chr8:53350286-53350287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs166928	chr8:53350287-53350288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs548906750	chr8:53350307-53350308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117061082	chr8:53350364-53350365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76793061	chr8:53350399-53350400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72614653	chr8:53350422-53350423	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs376273642	chr8:53350430-53350431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368099926	chr8:53350468-53350469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577301125	chr8:53350478-53350479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139466655	chr8:53350498-53350499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556093112	chr8:53350507-53350508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574502875	chr8:53350561-53350562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149255511	chr8:53350564-53350565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11994781	chr8:53350566-53350567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190879624	chr8:53350581-53350582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546016170	chr8:53350594-53350595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372294493	chr8:53350610-53350611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112075935	chr8:53350645-53350646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147430315	chr8:53350656-53350657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543544053	chr8:53350657-53350658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561624437	chr8:53350672-53350673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555490639	chr8:53350782-53350783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548896564	chr8:53350823-53350824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375609412	chr8:53350840-53350841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527865424	chr8:53350867-53350868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76083720	chr8:53350880-53350881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77481561	chr8:53350881-53350882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs16917841	chr8:53350893-53350894	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs537871080	chr8:53350921-53350922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113116087	chr8:53350939-53350940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139795349	chr8:53350975-53350976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35781846	chr8:53351001-53351002	Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374203349	chr8:53351033-53351034	Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369739154	chr8:53351045-53351046	Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180854477	chr8:53351060-53351061	Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568110552	chr8:53351098-53351099	Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs284800	chr8:53351137-53351138	Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs553769205	chr8:53351141-53351142	Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199965891	chr8:53351146-53351147	Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201133277	chr8:53351147-53351148	Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375621265	chr8:53351148-53351149	Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
low-grade B-cell lymphoma tumor	18367492	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:53344600-53351000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr8:53350800-53351000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:53351000-53351200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:53351000-53351200	Enhancers	Gastric	stomach
5	chr8:53351000-53351600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:53351000-53351600	Enhancers	Fetal Kidney	kidney
7	chr8:53351000-53352400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:53351000-53352800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:53351200-53351400	Flanking Active TSS	Gastric	stomach
10	chr8:53351200-53351400	Enhancers	Pancreas	Pancrea
11	chr8:53351200-53351600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:53351200-53351600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
13	chr8:53351200-53351800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:53351200-53352400	Enhancers	Spleen	Spleen
15	chr8:53351200-53352800	Enhancers	Esophagus	oesophagus
16	chr8:53351400-53351800	Active TSS	Gastric	stomach
17	chr8:53351400-53352000	ZNF genes & repeats	Pancreas	Pancrea
18	chr8:53351600-53351800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:53351600-53351800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:53351600-53351800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:53351800-53352000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:53352000-53352200	Weak transcription	Pancreas	Pancrea
23	chr8:53352800-53360000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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