Variant report

Variant	esv3494987
Chromosome Location	chr8:48064537-48071385
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:48068628-48068812	IMR90	lung:	n/a	n/a
2	CEBPB	chr8:48068657-48068852	A549	lung:	n/a	n/a
3	CEBPB	chr8:48068594-48068897	HepG2	liver:	n/a	n/a
4	CEBPB	chr8:48068712-48068795	K562	blood:	n/a	n/a
5	CTCF	chr8:48066253-48066266	GM13977	blood:	n/a	n/a
6	CTCF	chr8:48066218-48066243	GM13977	blood:	n/a	n/a
7	FOXA2	chr8:48064578-48065041	A549	lung:	n/a	n/a
8	FOXA2	chr8:48070049-48070666	A549	lung:	n/a	n/a
9	FOXA2	chr8:48070045-48070552	A549	lung:	n/a	n/a
10	HEY1	chr8:48069145-48069444	K562	blood:	n/a	n/a
11	MYC	chr8:48069133-48069242	MCF-7	breast:	n/a	n/a
12	POLR2A	chr8:48069183-48069313	GM12878	blood:	n/a	n/a
13	POLR2A	chr8:48064472-48064596	MCF-7	breast:	n/a	n/a
14	POLR2A	chr8:48068908-48069496	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr8:48068927-48068936	MCF-7	breast:	n/a	n/a
16	POLR2A	chr8:48069148-48069440	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr8:48069181-48069319	GM12878	blood:	n/a	n/a
18	POLR2A	chr8:48068892-48068899	MCF-7	breast:	n/a	n/a
19	POLR2A	chr8:48069044-48069453	GM12878	blood:	n/a	n/a
20	POLR2A	chr8:48069115-48069363	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr8:48069118-48069334	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr8:48068732-48069466	GM12878	blood:	n/a	n/a
23	POLR2A	chr8:48069164-48069410	H1-hESC	embryonic stem cell:	n/a	n/a
24	SPI1	chr8:48067467-48067657	GM12878	blood:	n/a	n/a
25	SPI1	chr8:48067478-48067640	K562	blood:	n/a	n/a
26	SPI1	chr8:48067489-48067631	GM12878	blood:	n/a	n/a
27	SPI1	chr8:48067466-48067645	GM12891	blood:	n/a	n/a
28	SPI1	chr8:48067487-48067642	K562	blood:	n/a	n/a
29	USF1	chr8:48069184-48069285	GM12878	blood:	n/a	chr8:48069247-48069258
30	USF1	chr8:48069116-48069344	HepG2	liver:	n/a	chr8:48069247-48069258
31	USF1	chr8:48069139-48069322	HepG2	liver:	n/a	chr8:48069247-48069258

Variant related genes	Relation type
RPL10AP2	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370472172	chr8:48064537-48064538	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs551652045	chr8:48064543-48064544	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs141207262	chr8:48064566-48064567	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs537378177	chr8:48064594-48064595	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs549642274	chr8:48064648-48064649	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs192712344	chr8:48064649-48064650	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs535036468	chr8:48064651-48064652	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs184717304	chr8:48064673-48064674	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs28846165	chr8:48064696-48064697	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs567320639	chr8:48064698-48064699	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs189522778	chr8:48064706-48064707	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs557702886	chr8:48064724-48064725	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs6981445	chr8:48064733-48064734	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs367764504	chr8:48064795-48064796	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs577707401	chr8:48064817-48064818	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs192802256	chr8:48064887-48064888	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs11786883	chr8:48064898-48064899	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs545211459	chr8:48064901-48064902	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs184220518	chr8:48064912-48064913	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs189449924	chr8:48064955-48064956	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs533292218	chr8:48065028-48065029	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs139979666	chr8:48065041-48065042	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs146394953	chr8:48067482-48067483	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs568778403	chr8:48067594-48067595	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs200646030	chr8:48067620-48067621	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs576217764	chr8:48067621-48067622	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs536271147	chr8:48067648-48067649	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs544282001	chr8:48068610-48068611	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs186987319	chr8:48068625-48068626	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs201997377	chr8:48068638-48068639	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs397963933	chr8:48068645-48068646	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs200474939	chr8:48068646-48068647	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs529834796	chr8:48068660-48068661	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs541722347	chr8:48068666-48068667	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs559974212	chr8:48068670-48068671	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs191476606	chr8:48068671-48068672	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs552261050	chr8:48068679-48068680	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs573432904	chr8:48068685-48068686	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs142525025	chr8:48068718-48068719	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs550295297	chr8:48068719-48068720	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs183561935	chr8:48068726-48068727	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs536016671	chr8:48068730-48068731	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs189194991	chr8:48068731-48068732	Inactive region	TF binding region	1 gene(s)	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
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
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
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	CNVD
Oral cancer	21386901	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
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48064400-48064800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell

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