Variant report

Variant	esv3497952
Chromosome Location	chr10:49917116-49917497
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370039477	chr10:49917169-49917170	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111447319	chr10:49917172-49917173	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146324544	chr10:49917174-49917175	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371290963	chr10:49917176-49917177	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375448940	chr10:49917178-49917179	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369943493	chr10:49917180-49917181	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181941587	chr10:49917476-49917477	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78308383	chr10:49917479-49917480	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561026780	chr10:49917490-49917491	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Rett syndrome	21593744	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	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
T-cell primary immunodeficiency	21948486	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	16272173	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49897000-49918200	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr10:49907400-49917800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr10:49908200-49922800	Weak transcription	Spleen	Spleen
4	chr10:49910800-49917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr10:49911000-49917800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr10:49911000-49917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr10:49913000-49930600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:49914200-49922600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr10:49915200-49917200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr10:49915400-49918800	Enhancers	Fetal Muscle Leg	muscle
11	chr10:49915400-49921600	Strong transcription	GM12878-XiMat	blood
12	chr10:49916400-49918800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr10:49916600-49917400	Weak transcription	Fetal Lung	lung
14	chr10:49916600-49917800	Weak transcription	Primary B cells from cord blood	blood
15	chr10:49916600-49917800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr10:49916800-49917600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr10:49916800-49917800	Weak transcription	Left Ventricle	heart
18	chr10:49916800-49918800	Weak transcription	Fetal Stomach	stomach
19	chr10:49916800-49918800	Weak transcription	Right Ventricle	heart
20	chr10:49916800-49919200	Enhancers	Fetal Heart	heart
21	chr10:49916800-49920400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr10:49916800-49921600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr10:49916800-49921600	Weak transcription	Right Atrium	heart
24	chr10:49917000-49917600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr10:49917200-49917800	Weak transcription	Primary monocytes fromperipheralblood	blood

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