Variant report

Variant	esv3420903
Chromosome Location	chr10:50472331-50472673
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50471365..50474414-chr10:50482796..50485458,3	K562	blood:
2	chr10:50464999..50467816-chr10:50471621..50473728,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542069534	chr10:50472337-50472338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs80015258	chr10:50472358-50472359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528015597	chr10:50472396-50472397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73308770	chr10:50472398-50472399	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs558872249	chr10:50472463-50472464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4838374	chr10:50472476-50472477	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs541450184	chr10:50472501-50472502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577738261	chr10:50472520-50472521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374329963	chr10:50472553-50472554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552349996	chr10:50472555-50472556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568317681	chr10:50472557-50472558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529310169	chr10:50472579-50472580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138548114	chr10:50472607-50472608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4838375	chr10:50472621-50472622	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs79251169	chr10:50472668-50472669	Weak transcription 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
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
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
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Hypotonia	21948486	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50463000-50478800	Weak transcription	Right Atrium	heart
2	chr10:50470200-50473000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr10:50470800-50480800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:50472000-50472400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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