Variant report

Variant	nsv1015866
Chromosome Location	chr8:47222794-47454051
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:35614212..35616054-chr8:47337776..47339296,2	MCF-7	breast:
2	chr8:46850638..46851140-chr8:47405865..47406365,2	MCF-7	breast:
3	chr8:47152207..47152786-chr8:47399264..47399945,2	MCF-7	breast:
4	chr2:86830620..86831120-chr8:47284541..47285069,2	MCF-7	breast:

Extended variants
information (count: 11616 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:11616 , 50 per page) page: 1 2 3 4 5 6 7 ... 233

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540693479	chr8:47222803-47222804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112790669	chr8:47222815-47222816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573556634	chr8:47222830-47222831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542194608	chr8:47222836-47222837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13281415	chr8:47222838-47222839	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs530988008	chr8:47222847-47222848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544796787	chr8:47222872-47222873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564411430	chr8:47222882-47222883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533294846	chr8:47222888-47222889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188489145	chr8:47222904-47222905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191740308	chr8:47222946-47222947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529263802	chr8:47222948-47222949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548977829	chr8:47222956-47222957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372837763	chr8:47222979-47222980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543191245	chr8:47222993-47222994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200918361	chr8:47222994-47222995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537603463	chr8:47223005-47223006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150586058	chr8:47223030-47223031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571362733	chr8:47223031-47223032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182664811	chr8:47223042-47223043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531864070	chr8:47223049-47223050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553788850	chr8:47223072-47223073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187265927	chr8:47223094-47223095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191361139	chr8:47223100-47223101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555739748	chr8:47223112-47223113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575906131	chr8:47223155-47223156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139600499	chr8:47223169-47223170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564366648	chr8:47223189-47223190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577698630	chr8:47223194-47223195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540294170	chr8:47223203-47223204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149719807	chr8:47223207-47223208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7818028	chr8:47223217-47223218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs549366563	chr8:47223258-47223259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183664263	chr8:47223276-47223277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531679073	chr8:47223289-47223290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551265964	chr8:47223312-47223313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571502440	chr8:47223323-47223324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141245539	chr8:47223332-47223333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547489716	chr8:47223338-47223339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567375481	chr8:47223347-47223348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535834608	chr8:47223349-47223350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145115421	chr8:47223365-47223366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575824185	chr8:47223395-47223396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538562414	chr8:47223398-47223399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558043969	chr8:47223403-47223404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577786656	chr8:47223418-47223419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187668492	chr8:47223422-47223423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193213604	chr8:47223435-47223436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574119141	chr8:47223464-47223465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542652830	chr8:47223481-47223482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Schizophrenia	20967226	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	20841430	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47222000-47224400	Weak transcription	Liver	Liver
2	chr8:47224400-47225800	ZNF genes & repeats	Liver	Liver
3	chr8:47225200-47226800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr8:47227800-47228800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr8:47229400-47230600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr8:47232200-47233800	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr8:47233000-47235000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr8:47238000-47238200	ZNF genes & repeats	Fetal Brain Female	brain
9	chr8:47238000-47255000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:47238600-47242200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:47238800-47241400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
12	chr8:47239400-47242200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr8:47242800-47251400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:47245000-47245600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:47247200-47250800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
16	chr8:47253800-47255400	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr8:47255400-47255600	ZNF genes & repeats	Fetal Brain Female	brain
18	chr8:47259000-47259400	Active TSS	Fetal Heart	heart
19	chr8:47259200-47259800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr8:47263400-47265200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:47264600-47265000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr8:47267800-47270200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:47275400-47280600	ZNF genes & repeats	Liver	Liver
24	chr8:47279800-47280600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:47285600-47286800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
26	chr8:47285600-47287000	ZNF genes & repeats	Fetal Stomach	stomach
27	chr8:47285600-47288400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
28	chr8:47286000-47286200	ZNF genes & repeats	Fetal Brain Female	brain
29	chr8:47286200-47302000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:47287200-47287400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
31	chr8:47287600-47288200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
32	chr8:47290400-47290600	ZNF genes & repeats	Brain Germinal Matrix	brain
33	chr8:47291200-47297200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:47292200-47294200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
35	chr8:47292600-47297400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:47294600-47294800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:47295200-47295400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:47296200-47296400	ZNF genes & repeats	Fetal Brain Female	brain
39	chr8:47298200-47298800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
40	chr8:47299600-47300600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:47303800-47307600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
42	chr8:47305600-47306000	Active TSS	Right Atrium	heart
43	chr8:47306600-47308800	ZNF genes & repeats	Adipose Nuclei	Adipose
44	chr8:47307400-47308800	Active TSS	Aorta	Aorta
45	chr8:47308000-47309600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:47308400-47309600	ZNF genes & repeats	Liver	Liver
47	chr8:47310400-47313600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
48	chr8:47313000-47360600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:47313400-47334000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:47317600-47317800	ZNF genes & repeats	Fetal Intestine Small	intestine

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