Variant report

Variant	esv3368751
Chromosome Location	chr10:50791850-50792348
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181663497	chr10:50791881-50791882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554389403	chr10:50791885-50791886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12146288	chr10:50791899-50791900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs11101171	chr10:50791919-50791920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs184365470	chr10:50791936-50791937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527316523	chr10:50791959-50791960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188356268	chr10:50792003-50792004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139136904	chr10:50792061-50792062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539283864	chr10:50792078-50792079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143994682	chr10:50792086-50792087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181477161	chr10:50792100-50792101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12263417	chr10:50792221-50792222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12415597	chr10:50792231-50792232	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs572985447	chr10:50792251-50792252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371381120	chr10:50792252-50792253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34219882	chr10:50792256-50792257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146409486	chr10:50792260-50792261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185814439	chr10:50792268-50792269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548627238	chr10:50792328-50792329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Schizophrenia	23813976	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	21948486	CNVD
cleft palate	21948486	CNVD
Encephalopathy	21948486	CNVD
Lung cancer	18438408	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
XY gonadal dysgenesis	20685758	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50781200-50792000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr10:50787800-50793000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr10:50787800-50793000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr10:50787800-50793000	Weak transcription	NHEK	skin
5	chr10:50788000-50793000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr10:50788200-50793000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:50788400-50793200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr10:50790800-50793000	Weak transcription	Osteobl	bone
9	chr10:50791400-50792400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr10:50792000-50793200	Enhancers	Placenta Amnion	Placenta Amnion

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