Variant report

Variant	nsv611266
Chromosome Location	chr8:47376032-47407817
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:
2	chr8:46850638..46851140-chr8:47405865..47406365,2	MCF-7	breast:

Extended variants
information (count: 1297 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1297 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11995808	chr8:47376032-47376033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs542155010	chr8:47376034-47376035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs562039012	chr8:47376051-47376052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs575761945	chr8:47376052-47376053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs544760979	chr8:47376074-47376075	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs117515471	chr8:47376078-47376079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs143519637	chr8:47376083-47376084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs556305027	chr8:47376090-47376091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs117727005	chr8:47376096-47376097	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs560512435	chr8:47376139-47376140	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs147154590	chr8:47376151-47376152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs549301476	chr8:47376154-47376155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs569092922	chr8:47376160-47376161	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs190100778	chr8:47376192-47376193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs138672595	chr8:47376217-47376218	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs545642822	chr8:47376219-47376220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs183438052	chr8:47376235-47376236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs553439927	chr8:47376236-47376237	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs566968162	chr8:47376243-47376244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs199727843	chr8:47376270-47376271	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs546398531	chr8:47376286-47376287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs555804821	chr8:47376289-47376290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs186383100	chr8:47376378-47376379	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs544559640	chr8:47376437-47376438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs190850882	chr8:47376446-47376447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs578211693	chr8:47376449-47376450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs373870613	chr8:47376472-47376473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs141134016	chr8:47376493-47376494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs150699279	chr8:47376503-47376504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs529547414	chr8:47376528-47376529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs529314791	chr8:47376540-47376541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs543009040	chr8:47376599-47376600	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs562662396	chr8:47376626-47376627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs560666410	chr8:47376646-47376647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs551369918	chr8:47376650-47376651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs539143092	chr8:47376675-47376676	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs569898174	chr8:47376692-47376693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs368489267	chr8:47376737-47376738	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs571457889	chr8:47376760-47376761	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs77925500	chr8:47376776-47376777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs377348151	chr8:47376781-47376782	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs78989167	chr8:47376796-47376797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs139650882	chr8:47376797-47376798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs75161223	chr8:47376798-47376799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs77793019	chr8:47376806-47376807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs182661417	chr8:47376814-47376815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs371062546	chr8:47376816-47376817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs187762494	chr8:47376831-47376832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs535869170	chr8:47376849-47376850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs116069811	chr8:47376854-47376855	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:16 , 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
16	chr8:47407000-47408600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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