Variant report

Variant	esv1825751
Chromosome Location	chr10:56467657-56494207
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	chr10:53779538..53781883-chr10:56470843..56472932,2	MCF-7	breast:
2	chr10:56415458..56418401-chr10:56492218..56494776,2	K562	blood:

Extended variants
information (count: 191 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:191 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12413015	chr10:56467657-56467658	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551301980	chr10:56467658-56467659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10825378	chr10:56467678-56467679	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs4935545	chr10:56467753-56467754	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs4935118	chr10:56467770-56467771	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs572896858	chr10:56467808-56467809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149057842	chr10:56467810-56467811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558324925	chr10:56467827-56467828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4935119	chr10:56467874-56467875	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs368823546	chr10:56467901-56467902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531084931	chr10:56467943-56467944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560863988	chr10:56467980-56467981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375842068	chr10:56467990-56467991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372423560	chr10:56468005-56468006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10763129	chr10:56468045-56468046	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs79435936	chr10:56468063-56468064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186039643	chr10:56468074-56468075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528619829	chr10:56468081-56468082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369586283	chr10:56468132-56468133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4935120	chr10:56468146-56468147	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs368783601	chr10:56468241-56468242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565188313	chr10:56468288-56468289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537298095	chr10:56468316-56468317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530960030	chr10:56468325-56468326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116239695	chr10:56468341-56468342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190892290	chr10:56468361-56468362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530398080	chr10:56468377-56468378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547253094	chr10:56468400-56468401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567062222	chr10:56468434-56468435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538807430	chr10:56468459-56468460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs72794532	chr10:56468486-56468487	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs182555333	chr10:56468539-56468540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367569495	chr10:56468540-56468541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373068066	chr10:56468560-56468561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1572429	chr10:56468563-56468564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574437724	chr10:56468564-56468565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369082890	chr10:56468565-56468566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs58888332	chr10:56468569-56468570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540127566	chr10:56468574-56468575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs58286973	chr10:56468602-56468603	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs80337379	chr10:56468635-56468636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539264275	chr10:56468647-56468648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186830863	chr10:56468649-56468650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147095066	chr10:56468657-56468658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79467944	chr10:56468662-56468663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11004453	chr10:56468676-56468677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372562272	chr10:56468732-56468733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191659030	chr10:56468748-56468749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561254852	chr10:56468752-56468753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183023252	chr10:56468777-56468778	Enhancers	n/a	n/a	Overlapped CNVs	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
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56466400-56471000	Enhancers	Fetal Lung	lung
2	chr10:56466600-56469000	Enhancers	Fetal Brain Male	brain
3	chr10:56467600-56468800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr10:56468600-56469200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:56469200-56470600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:56470600-56471000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr10:56471000-56472000	Weak transcription	Fetal Lung	lung
8	chr10:56472200-56472400	Enhancers	Fetal Lung	lung

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