Variant report

Variant	nsv611263
Chromosome Location	chr8:47374929-47388121
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 761 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:761 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374847066	chr8:47374937-47374938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs117533402	chr8:47374938-47374939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs372692792	chr8:47374973-47374974	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs553220618	chr8:47374976-47374977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs576401315	chr8:47374983-47374984	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs113681424	chr8:47374986-47374987	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs542007444	chr8:47375019-47375020	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs555518934	chr8:47375056-47375057	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs575384048	chr8:47375057-47375058	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs544275514	chr8:47375061-47375062	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs6981359	chr8:47375082-47375083	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs113620166	chr8:47375083-47375084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs189403463	chr8:47375108-47375109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs181410570	chr8:47375113-47375114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs146547659	chr8:47375181-47375182	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs548339632	chr8:47375220-47375221	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs567769398	chr8:47375231-47375232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs561305998	chr8:47375239-47375240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs568235510	chr8:47375280-47375281	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs575135333	chr8:47375308-47375309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs551036153	chr8:47375340-47375341	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs570794694	chr8:47375385-47375386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs80078006	chr8:47375390-47375391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs539777261	chr8:47375393-47375394	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs553316236	chr8:47375415-47375416	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs140913833	chr8:47375435-47375436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs535670229	chr8:47375466-47375467	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs199576181	chr8:47375487-47375488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs575496291	chr8:47375488-47375489	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs537585166	chr8:47375490-47375491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs368519840	chr8:47375533-47375534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs577568621	chr8:47375545-47375546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs559452550	chr8:47375567-47375568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs540185147	chr8:47375570-47375571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs150170972	chr8:47375580-47375581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs10108363	chr8:47375601-47375602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs573171597	chr8:47375611-47375612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs542094245	chr8:47375652-47375653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs72641040	chr8:47375663-47375664	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs12546363	chr8:47375673-47375674	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs550838700	chr8:47375674-47375675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs564566572	chr8:47375693-47375694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs10105054	chr8:47375714-47375715	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs546991497	chr8:47375727-47375728	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs370412230	chr8:47375741-47375742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs535783965	chr8:47375766-47375767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs185981752	chr8:47375784-47375785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs373283532	chr8:47375785-47375786	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs376593699	chr8:47375834-47375835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs530700590	chr8:47375838-47375839	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47372000-47379600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:47372600-47380800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr8:47376800-47377000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr8:47379600-47381000	ZNF genes & repeats	Liver	Liver
5	chr8:47381600-47382200	ZNF genes & repeats	Liver	Liver
6	chr8:47382000-47394000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:47382400-47386000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr8:47383200-47391800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr8:47383800-47390200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr8:47384600-47393000	ZNF genes & repeats	Liver	Liver
11	chr8:47385200-47386000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr8:47387200-47387800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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