Variant report

Variant	esv3480445
Chromosome Location	chr8:47372437-47377935
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 316 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191891940	chr8:47372450-47372451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs529372914	chr8:47372466-47372467	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs549482587	chr8:47372484-47372485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs562900032	chr8:47372496-47372497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs531735689	chr8:47372497-47372498	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs571897977	chr8:47372519-47372520	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs112712607	chr8:47372522-47372523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs78334132	chr8:47372541-47372542	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs571480339	chr8:47372544-47372545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs371267323	chr8:47372572-47372573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs547544012	chr8:47372577-47372578	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs567106076	chr8:47372579-47372580	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs535966984	chr8:47372580-47372581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs555835990	chr8:47372583-47372584	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs575670585	chr8:47372617-47372618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs538586528	chr8:47372641-47372642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs552935076	chr8:47372653-47372654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs572940995	chr8:47372684-47372685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs578175401	chr8:47372718-47372719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs540485991	chr8:47372725-47372726	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs375884008	chr8:47372741-47372742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs182589195	chr8:47372745-47372746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs543191837	chr8:47372770-47372771	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs545293536	chr8:47372841-47372842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs186700055	chr8:47372881-47372882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs531748279	chr8:47372914-47372915	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs543560199	chr8:47372951-47372952	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs551708321	chr8:47372969-47372970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs369793733	chr8:47373027-47373028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs565057559	chr8:47373030-47373031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs9694434	chr8:47373036-47373037	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs113436023	chr8:47373057-47373058	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs113132009	chr8:47373065-47373066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs575900145	chr8:47373066-47373067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs79262235	chr8:47373087-47373088	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs79715383	chr8:47373112-47373113	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs549473110	chr8:47373160-47373161	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs182890441	chr8:47373175-47373176	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs538276225	chr8:47373179-47373180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs114069758	chr8:47373193-47373194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs66623956	chr8:47373244-47373245	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs534537999	chr8:47373281-47373282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs554503875	chr8:47373296-47373297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs574325794	chr8:47373309-47373310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs186895198	chr8:47373340-47373341	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs374271645	chr8:47373341-47373342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs543204338	chr8:47373342-47373343	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs77995286	chr8:47373346-47373347	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs190249834	chr8:47373348-47373349	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs137986957	chr8:47373352-47373353	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Oral cancer	21386901	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	20409316	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Tetralogy of Fallot	22912587	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47370600-47373000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr8:47372000-47379600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:47372600-47380800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr8:47376800-47377000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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