Variant report

Variant	esv3393279
Chromosome Location	chr10:61361196-61365994
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	chr10:61363138..61365267-chr10:61366701..61368651,2	K562	blood:

Extended variants
information (count: 160 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:160 , 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	rs149290833	chr10:61361261-61361262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534086188	chr10:61361275-61361276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs16913821	chr10:61361302-61361303	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs61860856	chr10:61361380-61361381	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs537882926	chr10:61361432-61361433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs56083792	chr10:61361445-61361446	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs575192184	chr10:61361455-61361456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192708228	chr10:61361456-61361457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564181985	chr10:61361466-61361467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185060745	chr10:61361560-61361561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540026908	chr10:61361576-61361577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561784605	chr10:61361591-61361592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117394192	chr10:61361611-61361612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572892412	chr10:61361622-61361623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377070583	chr10:61361625-61361626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550625761	chr10:61361631-61361632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554631332	chr10:61361687-61361688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7905991	chr10:61361711-61361712	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs533497085	chr10:61361722-61361723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148017571	chr10:61361782-61361783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142449249	chr10:61361816-61361817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145939913	chr10:61361821-61361822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549148887	chr10:61361849-61361850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189520997	chr10:61361865-61361866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557301365	chr10:61361866-61361867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556176849	chr10:61361876-61361877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577622011	chr10:61361883-61361884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538611463	chr10:61361912-61361913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201293331	chr10:61361964-61361965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558057466	chr10:61361990-61361991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192783556	chr10:61362005-61362006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114964196	chr10:61362032-61362033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184225317	chr10:61362048-61362049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573828862	chr10:61362077-61362078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544315121	chr10:61362239-61362240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562527899	chr10:61362248-61362249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189405623	chr10:61362267-61362268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569157674	chr10:61362279-61362280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28601804	chr10:61362321-61362322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs143074667	chr10:61362348-61362349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181768138	chr10:61362379-61362380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527955956	chr10:61362460-61362461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185909547	chr10:61362474-61362475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570702561	chr10:61362477-61362478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188759260	chr10:61362487-61362488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533843076	chr10:61362538-61362539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181716141	chr10:61362632-61362633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558371529	chr10:61362663-61362664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186737311	chr10:61362672-61362673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10740776	chr10:61362700-61362701	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:59)

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
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
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
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Urothelial carcinoma	21177765	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	20643615	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:61355600-61366800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr10:61361000-61362000	Enhancers	Placenta	Placenta
3	chr10:61362000-61368600	Weak transcription	Placenta	Placenta
4	chr10:61365000-61365200	Enhancers	Rectal Mucosa Donor 29	rectum

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