Variant report

Variant	esv3481405
Chromosome Location	chr8:47330411-47345306
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	chr19:35614212..35616054-chr8:47337776..47339296,2	MCF-7	breast:

Extended variants
information (count: 900 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:900 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374138047	chr8:47330436-47330437	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574870482	chr8:47330476-47330477	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543793790	chr8:47330490-47330491	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557596894	chr8:47330496-47330497	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190653021	chr8:47330524-47330525	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546328524	chr8:47330541-47330542	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559897734	chr8:47330559-47330560	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573417754	chr8:47330569-47330570	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542342067	chr8:47330590-47330591	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112038273	chr8:47330605-47330606	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10097511	chr8:47330606-47330607	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs550618615	chr8:47330610-47330611	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150644829	chr8:47330611-47330612	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532985457	chr8:47330626-47330627	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139747246	chr8:47330646-47330647	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550266032	chr8:47330656-47330657	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149779335	chr8:47330680-47330681	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73565366	chr8:47330709-47330710	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs115228200	chr8:47330730-47330731	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113780660	chr8:47330737-47330738	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147874215	chr8:47330744-47330745	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368777357	chr8:47330745-47330746	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562289421	chr8:47330775-47330776	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557370708	chr8:47330776-47330777	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141489734	chr8:47330840-47330841	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs386725003	chr8:47330856-47330857	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145299002	chr8:47330901-47330902	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371104676	chr8:47330902-47330903	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573454589	chr8:47330927-47330928	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542377089	chr8:47330947-47330948	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533792305	chr8:47330948-47330949	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147631031	chr8:47330978-47330979	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544548283	chr8:47330990-47330991	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564312744	chr8:47331004-47331005	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533304642	chr8:47331023-47331024	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546466025	chr8:47331028-47331029	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34192307	chr8:47331061-47331062	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149090292	chr8:47331067-47331068	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529018679	chr8:47331068-47331069	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548689541	chr8:47331078-47331079	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375821219	chr8:47331094-47331095	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568885382	chr8:47331103-47331104	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537450645	chr8:47331125-47331126	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551399230	chr8:47331135-47331136	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541384174	chr8:47331142-47331143	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540166533	chr8:47331144-47331145	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112448141	chr8:47331163-47331164	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143117988	chr8:47331198-47331199	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573492813	chr8:47331200-47331201	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536029928	chr8:47331203-47331204	ZNF genes & repeats Enhancers	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	chr8:47313000-47360600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:47313400-47334000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:47329600-47332200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr8:47331200-47331600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:47331200-47331800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:47331800-47332400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:47332200-47334200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:47333800-47338000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:47334200-47334800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr8:47334600-47334800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:47335000-47335200	ZNF genes & repeats	Brain Germinal Matrix	brain
12	chr8:47336000-47336600	Active TSS	Fetal Heart	heart
13	chr8:47338600-47340400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:47341400-47341600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:47344800-47345600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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