Variant report

Variant	nsv611267
Chromosome Location	chr8:47376397-47399426
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	chr8:47152207..47152786-chr8:47399264..47399945,2	MCF-7	breast:

Extended variants
information (count: 1232 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1232 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544559640	chr8:47376437-47376438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs190850882	chr8:47376446-47376447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs578211693	chr8:47376449-47376450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs373870613	chr8:47376472-47376473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs141134016	chr8:47376493-47376494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs150699279	chr8:47376503-47376504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs529547414	chr8:47376528-47376529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs529314791	chr8:47376540-47376541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs543009040	chr8:47376599-47376600	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs562662396	chr8:47376626-47376627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs560666410	chr8:47376646-47376647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs551369918	chr8:47376650-47376651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs539143092	chr8:47376675-47376676	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs569898174	chr8:47376692-47376693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs368489267	chr8:47376737-47376738	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs571457889	chr8:47376760-47376761	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs77925500	chr8:47376776-47376777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs377348151	chr8:47376781-47376782	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs78989167	chr8:47376796-47376797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs139650882	chr8:47376797-47376798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs75161223	chr8:47376798-47376799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs77793019	chr8:47376806-47376807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs182661417	chr8:47376814-47376815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs371062546	chr8:47376816-47376817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs187762494	chr8:47376831-47376832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs535869170	chr8:47376849-47376850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs116069811	chr8:47376854-47376855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs556154748	chr8:47376892-47376893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs569536131	chr8:47376930-47376931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs376849222	chr8:47376953-47376954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs75120732	chr8:47376964-47376965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs4418354	chr8:47376967-47376968	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs192619883	chr8:47376969-47376970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs76651007	chr8:47376971-47376972	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs578220672	chr8:47376993-47376994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs540789744	chr8:47377001-47377002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs554322197	chr8:47377004-47377005	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs574154303	chr8:47377030-47377031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs373523126	chr8:47377040-47377041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs569267512	chr8:47377075-47377076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs542732427	chr8:47377096-47377097	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs538155387	chr8:47377122-47377123	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs562934449	chr8:47377130-47377131	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs531596436	chr8:47377161-47377162	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs77790124	chr8:47377173-47377174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs115563936	chr8:47377174-47377175	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs527885581	chr8:47377185-47377186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs547163584	chr8:47377186-47377187	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs13272406	chr8:47377223-47377224	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs529775508	chr8:47377317-47377318	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:15 , 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
13	chr8:47393000-47395400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr8:47396600-47398600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr8:47397800-47398400	Active TSS	Fetal Heart	heart

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