Variant report

Variant	esv3326931
Chromosome Location	chr10:52539746-52541744
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2820846	chr10:52539819-52539820	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144376439	chr10:52539916-52539917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540345409	chr10:52539917-52539918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2495528	chr10:52539922-52539923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552922872	chr10:52539924-52539925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs61858598	chr10:52539943-52539944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7078064	chr10:52539970-52539971	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs559137239	chr10:52540008-52540009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575737364	chr10:52540092-52540093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544748493	chr10:52540134-52540135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4935001	chr10:52540136-52540137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182644168	chr10:52540173-52540174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573680726	chr10:52540184-52540185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139542003	chr10:52540201-52540202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542652231	chr10:52540202-52540203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187015110	chr10:52540259-52540260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4935002	chr10:52540260-52540261	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs4935189	chr10:52540268-52540269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530627580	chr10:52540276-52540277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146581270	chr10:52540301-52540302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4935003	chr10:52540304-52540305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2820847	chr10:52540347-52540348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141199818	chr10:52540389-52540390	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
24	rs546625458	chr10:52540407-52540408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566509429	chr10:52540445-52540446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564358441	chr10:52540464-52540465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113942212	chr10:52540483-52540484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4935005	chr10:52540532-52540533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566670922	chr10:52540547-52540548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529263195	chr10:52540574-52540575	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Ollier disease	21235737	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52539800-52540600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr10:52540000-52540400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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