Variant report

Variant	esv3354427
Chromosome Location	chr8:52609246-52609480
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372901773	chr8:52609251-52609252	Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs56079276	chr8:52609260-52609261	Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs371737641	chr8:52609262-52609263	Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs56291771	chr8:52609263-52609264	Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs55893375	chr8:52609267-52609268	Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs377105526	chr8:52609272-52609273	Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs55757535	chr8:52609273-52609274	Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs56260561	chr8:52609275-52609276	Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs55923680	chr8:52609284-52609285	Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs201955781	chr8:52609285-52609286	Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs370354406	chr8:52609286-52609287	Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs369157539	chr8:52609291-52609292	Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs373388219	chr8:52609294-52609295	Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs377360590	chr8:52609301-52609302	Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs371325470	chr8:52609309-52609310	Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs567896068	chr8:52609310-52609311	Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs55864024	chr8:52609347-52609348	Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
18	rs56280027	chr8:52609350-52609351	Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs374361379	chr8:52609366-52609367	Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs113496741	chr8:52609367-52609368	Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs55788938	chr8:52609372-52609373	Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs147045353	chr8:52609373-52609374	Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs56211980	chr8:52609381-52609382	Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs55708073	chr8:52609390-52609391	Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs56380764	chr8:52609391-52609392	Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs56332707	chr8:52609397-52609398	Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs114213183	chr8:52609405-52609406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114965476	chr8:52609406-52609407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56347711	chr8:52609429-52609430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144950297	chr8:52609430-52609431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114401680	chr8:52609433-52609434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535327812	chr8:52609460-52609461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs16919839	chr8:52609465-52609466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs578190912	chr8:52609467-52609468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143764189	chr8:52609472-52609473	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:11 , 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	chr8:52606400-52610000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:52608800-52609400	Enhancers	Right Atrium	heart
4	chr8:52609000-52609400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:52609000-52609400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:52609000-52609400	Enhancers	Left Ventricle	heart
7	chr8:52609000-52609400	Enhancers	Right Ventricle	heart
8	chr8:52609000-52609400	Active TSS	Spleen	Spleen
9	chr8:52609200-52609400	ZNF genes & repeats	Pancreas	Pancrea
10	chr8:52609400-52609800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:52609400-52614400	Weak transcription	Right Atrium	heart

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