Variant report

Variant	esv2757394
Chromosome Location	chr10:61324135-61333139
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	chr10:61332918..61335616-chr10:61339810..61341493,2	K562	blood:
2	chr10:61332918..61334524-chr10:61339419..61341493,2	K562	blood:

Extended variants
information (count: 116 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7919650	chr10:61324135-61324136	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557626443	chr10:61324139-61324140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536123012	chr10:61324153-61324154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540021011	chr10:61324181-61324182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554859180	chr10:61324195-61324196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555108388	chr10:61324197-61324198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573676965	chr10:61324199-61324200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79908755	chr10:61324235-61324236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1909646	chr10:61324243-61324244	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs138960833	chr10:61324256-61324257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191211222	chr10:61324289-61324290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560745786	chr10:61324290-61324291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11006577	chr10:61324299-61324300	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs564917471	chr10:61324313-61324314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567822264	chr10:61324329-61324330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531717705	chr10:61324355-61324356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371929671	chr10:61324377-61324378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375256642	chr10:61324379-61324380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182258858	chr10:61324389-61324390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576556006	chr10:61330600-61330601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145307533	chr10:61330601-61330602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34199773	chr10:61330639-61330640	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs532435138	chr10:61330648-61330649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541048638	chr10:61330649-61330650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4536156	chr10:61330703-61330704	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs527593039	chr10:61330709-61330710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548998262	chr10:61330789-61330790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567501175	chr10:61330795-61330796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531513121	chr10:61330811-61330812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12262855	chr10:61330816-61330817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4301738	chr10:61330838-61330839	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs397845334	chr10:61330884-61330885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374320189	chr10:61330895-61330896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201176039	chr10:61330899-61330900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs398013674	chr10:61330901-61330902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4512773	chr10:61330926-61330927	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs553735433	chr10:61330927-61330928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183790948	chr10:61330929-61330930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536997092	chr10:61330990-61330991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554941104	chr10:61330994-61330995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535106317	chr10:61331004-61331005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10826316	chr10:61331087-61331088	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs369611317	chr10:61331120-61331121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537261341	chr10:61331132-61331133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558697340	chr10:61331154-61331155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78957943	chr10:61331178-61331179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576927483	chr10:61331269-61331270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373019621	chr10:61331275-61331276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559738323	chr10:61331292-61331293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188274152	chr10:61331346-61331347	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic myelogenous leukemia	20824076	CNVD
Papillary thyroid carcinoma	20824076	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:61321600-61324200	Enhancers	NHDF-Ad	bronchial
2	chr10:61323800-61324400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr10:61324000-61324200	Enhancers	Fetal Muscle Leg	muscle
4	chr10:61330600-61331400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr10:61331400-61336200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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