Variant report

Variant	esv3323220
Chromosome Location	chr10:55891646-55896144
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	10:55597627-55602376..10:55882057-55892580	GM12878	blood:
2	10:55597627-55602376..10:55892580-55896204	H1-hESC	embryonic stem cell:	embryo

Extended variants
information (count: 37 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186575768	chr10:55891647-55891648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111648213	chr10:55891659-55891660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552913033	chr10:55891660-55891661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9787578	chr10:55891676-55891677	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs534791750	chr10:55891697-55891698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558257626	chr10:55891702-55891703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75088529	chr10:55891703-55891704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190507947	chr10:55891852-55891853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138243780	chr10:55891862-55891863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574392037	chr10:55891863-55891864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562370771	chr10:55891866-55891867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543180499	chr10:55891899-55891900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529543954	chr10:55891920-55891921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528721738	chr10:55891940-55891941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544757414	chr10:55891952-55891953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565038399	chr10:55891972-55891973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563370663	chr10:55891991-55891992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550172034	chr10:55891995-55891996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113726663	chr10:55892013-55892014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529951970	chr10:55892020-55892021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9787465	chr10:55892061-55892062	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs566527605	chr10:55892080-55892081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538870892	chr10:55892096-55892097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147195473	chr10:55892110-55892111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571777582	chr10:55892119-55892120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11004088	chr10:55892131-55892132	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs183136837	chr10:55892144-55892145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186316306	chr10:55892257-55892258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542939007	chr10:55892258-55892259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs72797045	chr10:55892271-55892272	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs200499942	chr10:55892281-55892282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189643942	chr10:55892287-55892288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182669041	chr10:55892288-55892289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564597869	chr10:55892302-55892303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530540276	chr10:55892307-55892308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543769411	chr10:55892322-55892323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4272709	chr10:55892389-55892390	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

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
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
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Intellectual disability	21948486	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
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55891600-55891800	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr10:55891600-55892200	Enhancers	Fetal Heart	heart
3	chr10:55892200-55892400	Enhancers	Placenta Amnion	Placenta Amnion

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