Variant report

Variant	esv3412550
Chromosome Location	chr10:56806296-56809594
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	chr10:56802881..56805062-chr10:56805603..56807529,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541223067	chr10:56807802-56807803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186903454	chr10:56807846-56807847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192109813	chr10:56807855-56807856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550063360	chr10:56807907-56807908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569987053	chr10:56807986-56807987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201354665	chr10:56808027-56808028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72801621	chr10:56808057-56808058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548713873	chr10:56808134-56808135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs202134629	chr10:56808145-56808146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565759947	chr10:56808215-56808216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534468290	chr10:56808228-56808229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185014993	chr10:56808235-56808236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190209947	chr10:56808248-56808249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs193147814	chr10:56808255-56808256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185596723	chr10:56808263-56808264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573788310	chr10:56808264-56808265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576667772	chr10:56808322-56808323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542196781	chr10:56808342-56808343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188416946	chr10:56808365-56808366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572480045	chr10:56808480-56808481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs180734434	chr10:56808484-56808485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs55742901	chr10:56808501-56808502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564584349	chr10:56808562-56808563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577882030	chr10:56808563-56808564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185776014	chr10:56808617-56808618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563557088	chr10:56808623-56808624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529215210	chr10:56808695-56808696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548963025	chr10:56808804-56808805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10763176	chr10:56808806-56808807	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs528161665	chr10:56808832-56808833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562245115	chr10:56808848-56808849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368189109	chr10:56808858-56808859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10825449	chr10:56808870-56808871	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs571031435	chr10:56808895-56808896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539598952	chr10:56808961-56808962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs117723843	chr10:56808967-56808968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570324844	chr10:56808980-56808981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535799746	chr10:56808984-56808985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7896003	chr10:56808993-56808994	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs188482542	chr10:56809002-56809003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377008911	chr10:56809009-56809010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535036053	chr10:56809023-56809024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563334219	chr10:56809033-56809034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558233947	chr10:56809076-56809077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11004704	chr10:56809139-56809140	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs200648727	chr10:56809187-56809188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143019707	chr10:56809221-56809222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543635278	chr10:56809226-56809227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181998752	chr10:56809228-56809229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573860614	chr10:56809269-56809270	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
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
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
small cell lung cancer	17426248	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56807800-56809400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr10:56808200-56809200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:56808400-56809200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr10:56808400-56809400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr10:56808600-56809200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr10:56808800-56809200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr10:56808800-56809200	Enhancers	Brain Germinal Matrix	brain
8	chr10:56809000-56809200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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