Variant report

Variant	esv3318129
Chromosome Location	chr10:61359946-61364744
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: 166 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:166 , 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	rs10733988	chr10:61359959-61359960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147666802	chr10:61359965-61359966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72808410	chr10:61359979-61359980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs374510864	chr10:61360069-61360070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11006597	chr10:61360110-61360111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs370000836	chr10:61360256-61360257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536251870	chr10:61360272-61360273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565138890	chr10:61360285-61360286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535402761	chr10:61360294-61360295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372800510	chr10:61360308-61360309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538895287	chr10:61360317-61360318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34818158	chr10:61360325-61360326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1909623	chr10:61360345-61360346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs118131753	chr10:61360357-61360358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142278751	chr10:61360394-61360395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373813071	chr10:61360414-61360415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376783576	chr10:61360415-61360416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542584636	chr10:61360416-61360417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs386744365	chr10:61360422-61360423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs398013676	chr10:61360423-61360424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112498393	chr10:61360433-61360434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12356975	chr10:61360447-61360448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372810275	chr10:61360497-61360498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546653688	chr10:61360524-61360525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369768745	chr10:61360541-61360542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12254062	chr10:61360596-61360597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs544170709	chr10:61360602-61360603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183115830	chr10:61360630-61360631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559071990	chr10:61360671-61360672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28618162	chr10:61360708-61360709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs530697970	chr10:61360764-61360765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs16913818	chr10:61360768-61360769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs564299969	chr10:61360795-61360796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs36010223	chr10:61360862-61360863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528212508	chr10:61360884-61360885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76242905	chr10:61360901-61360902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561723118	chr10:61360929-61360930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528920640	chr10:61360944-61360945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376220068	chr10:61360984-61360985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574831503	chr10:61360992-61360993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187378653	chr10:61361005-61361006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569606106	chr10:61361124-61361125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79140842	chr10:61361128-61361129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551734435	chr10:61361172-61361173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149290833	chr10:61361261-61361262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534086188	chr10:61361275-61361276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs16913821	chr10:61361302-61361303	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs61860856	chr10:61361380-61361381	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs537882926	chr10:61361432-61361433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs56083792	chr10:61361445-61361446	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3 , 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

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