Variant report

Variant	nsv465678
Chromosome Location	chr8:47192950-47287147
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	chr2:86830620..86831120-chr8:47284541..47285069,2	MCF-7	breast:

Extended variants
information (count: 3870 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:3870 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11992896	chr8:47197617-47197618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs113399483	chr8:47197624-47197625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs527340232	chr8:47197638-47197639	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs547217363	chr8:47197643-47197644	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs567251918	chr8:47197649-47197650	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs535897957	chr8:47197663-47197664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs73570422	chr8:47197668-47197669	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs113389088	chr8:47197684-47197685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs537404323	chr8:47197697-47197698	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs562787583	chr8:47197719-47197720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs372452885	chr8:47197722-47197723	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs73570425	chr8:47197749-47197750	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs540709549	chr8:47197750-47197751	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs111838172	chr8:47197805-47197806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs573953750	chr8:47197820-47197821	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs541237486	chr8:47197822-47197823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs374950990	chr8:47197826-47197827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs531458785	chr8:47197832-47197833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs548503579	chr8:47197835-47197836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs565080874	chr8:47197843-47197844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs60794102	chr8:47197848-47197849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs527540428	chr8:47197850-47197851	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs547448578	chr8:47197851-47197852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs567285083	chr8:47197858-47197859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs529810958	chr8:47197864-47197865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs549773725	chr8:47197892-47197893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs147586655	chr8:47197900-47197901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs538499433	chr8:47197902-47197903	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs558527813	chr8:47197931-47197932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs527851574	chr8:47197941-47197942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs571805558	chr8:47197959-47197960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs534155116	chr8:47197970-47197971	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs359835	chr8:47197979-47197980	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs547586255	chr8:47197990-47197991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs142021775	chr8:47198007-47198008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs556101081	chr8:47198016-47198017	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs576069179	chr8:47198030-47198031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs567786935	chr8:47198040-47198041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs145771653	chr8:47198041-47198042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs138632209	chr8:47198077-47198078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs373522603	chr8:47198083-47198084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs572190681	chr8:47198105-47198106	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs541920943	chr8:47198112-47198113	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs540833478	chr8:47198118-47198119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs568788148	chr8:47198126-47198127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs376816229	chr8:47198148-47198149	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs141108017	chr8:47198185-47198186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs549910804	chr8:47198193-47198194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs563261107	chr8:47198219-47198220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs532188312	chr8:47198236-47198237	ZNF genes & repeats	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47197600-47205600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:47198200-47198800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:47201400-47203200	ZNF genes & repeats	Liver	Liver
4	chr8:47201800-47203600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:47202400-47202800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:47207200-47210000	ZNF genes & repeats	Liver	Liver
7	chr8:47210800-47219200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:47216800-47219200	ZNF genes & repeats	Liver	Liver
9	chr8:47217800-47222000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr8:47222000-47224400	Weak transcription	Liver	Liver
11	chr8:47224400-47225800	ZNF genes & repeats	Liver	Liver
12	chr8:47225200-47226800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr8:47227800-47228800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr8:47229400-47230600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr8:47232200-47233800	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr8:47233000-47235000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
17	chr8:47238000-47238200	ZNF genes & repeats	Fetal Brain Female	brain
18	chr8:47238000-47255000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:47238600-47242200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:47238800-47241400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
21	chr8:47239400-47242200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr8:47242800-47251400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:47245000-47245600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:47247200-47250800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
25	chr8:47253800-47255400	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr8:47255400-47255600	ZNF genes & repeats	Fetal Brain Female	brain
27	chr8:47259000-47259400	Active TSS	Fetal Heart	heart
28	chr8:47259200-47259800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chr8:47263400-47265200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:47264600-47265000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr8:47267800-47270200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:47275400-47280600	ZNF genes & repeats	Liver	Liver
33	chr8:47279800-47280600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:47285600-47286800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
35	chr8:47285600-47287000	ZNF genes & repeats	Fetal Stomach	stomach
36	chr8:47285600-47288400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
37	chr8:47286000-47286200	ZNF genes & repeats	Fetal Brain Female	brain
38	chr8:47286200-47302000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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