Variant report

Variant	esv12681
Chromosome Location	chr8:47689436-47738840
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	BATF	chr8:47738438-47738681	GM12878	blood:	n/a	chr8:47738534-47738545
2	CEBPB	chr8:47726143-47726477	MCF-7	breast:	n/a	n/a
3	CEBPB	chr8:47732177-47732382	H1-hESC	embryonic stem cell:	n/a	chr8:47732251-47732262
4	CEBPB	chr8:47720612-47720628	K562	blood:	n/a	n/a
5	CEBPB	chr8:47730627-47730869	A549	lung:	n/a	n/a
6	CEBPB	chr8:47732135-47732429	IMR90	lung:	n/a	chr8:47732251-47732262
7	CEBPB	chr8:47726122-47726673	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr8:47733759-47733964	A549	lung:	n/a	n/a
9	CEBPB	chr8:47732060-47732380	MCF-7	breast:	n/a	chr8:47732251-47732262
10	CEBPB	chr8:47728857-47729192	A549	lung:	n/a	n/a
11	CEBPB	chr8:47737694-47737724	HepG2	liver:	n/a	n/a
12	CEBPB	chr8:47728521-47729026	HepG2	liver:	n/a	n/a
13	CEBPB	chr8:47726092-47726550	MCF-7	breast:	n/a	n/a
14	CEBPB	chr8:47726150-47726880	HepG2	liver:	n/a	n/a
15	CEBPB	chr8:47689369-47689570	HepG2	liver:	n/a	n/a
16	CEBPB	chr8:47691009-47691710	A549	lung:	n/a	n/a
17	CEBPB	chr8:47732072-47732430	HepG2	liver:	n/a	chr8:47732251-47732262
18	CEBPB	chr8:47732078-47732422	A549	lung:	n/a	chr8:47732251-47732262
19	CEBPB	chr8:47729582-47729782	IMR90	lung:	n/a	chr8:47729734-47729745
20	CEBPB	chr8:47726154-47726589	A549	lung:	n/a	n/a
21	CEBPB	chr8:47733822-47733874	HepG2	liver:	n/a	n/a
22	CEBPB	chr8:47691073-47691696	HepG2	liver:	n/a	n/a
23	CEBPB	chr8:47731371-47731837	HepG2	liver:	n/a	n/a
24	CEBPB	chr8:47726198-47726696	IMR90	lung:	n/a	n/a
25	CEBPB	chr8:47735917-47736098	HepG2	liver:	n/a	n/a
26	CEBPB	chr8:47729741-47729838	HepG2	liver:	n/a	n/a
27	CEBPB	chr8:47730645-47730867	HepG2	liver:	n/a	n/a
28	CTCF	chr8:47701080-47701230	GM12871	blood:	n/a	n/a
29	CTCF	chr8:47708337-47708744	MCF-7	breast:	n/a	chr8:47708510-47708528 chr8:47708512-47708533
30	CTCF	chr8:47723006-47723051	LNCaP	prostate:	n/a	n/a
31	CTCF	chr8:47713714-47713806	GM20000	blood:	n/a	n/a
32	CTCF	chr8:47708435-47708599	MCF-7	breast:	n/a	chr8:47708510-47708528 chr8:47708512-47708533
33	CTCF	chr8:47708460-47708610	SAEC	small airway:	n/a	chr8:47708510-47708528 chr8:47708512-47708533
34	CTCF	chr8:47708420-47708570	HMEC	breast:	n/a	chr8:47708510-47708528 chr8:47708512-47708533
35	CTCF	chr8:47708451-47708561	MCF-7	breast:	n/a	chr8:47708510-47708528 chr8:47708512-47708533
36	CTCF	chr8:47708487-47708535	LNCaP	prostate:	n/a	chr8:47708510-47708528 chr8:47708512-47708533
37	CTCF	chr8:47708340-47708490	NHEK	skin:	n/a	n/a
38	CTCF	chr8:47708449-47708592	HepG2	liver:	n/a	chr8:47708510-47708528 chr8:47708512-47708533
39	CTCF	chr8:47693736-47693810	GM20000	blood:	n/a	n/a
40	CTCF	chr8:47708388-47708589	HepG2	liver:	n/a	chr8:47708510-47708528 chr8:47708512-47708533
41	CTCF	chr8:47708464-47708575	LNCaP	prostate:	n/a	chr8:47708510-47708528 chr8:47708512-47708533
42	E2F4	chr8:47726198-47726938	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F4	chr8:47724095-47724379	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr8:47729619-47729790	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr8:47736607-47736882	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr8:47729664-47729883	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr8:47731464-47731652	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr8:47705152-47705291	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr8:47726065-47726666	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr8:47728640-47729978	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-350F16.2.1-2	chr8:47730635-47730705	XLOC_007078
2	lnc-LINC00293-2	chr8:47704231-47704686	NONHSAT126410
3	lnc-RP11-1134I14.8.1-3	chr8:47733859-47734050	ENSG00000253314.1
4	lnc-LINC00293-2	chr8:47703687-47703942	NONHSAT126410
5	lnc-RP11-350F16.2.1-2	chr8:47722340-47723308	XLOC_007078

Variant related genes	Relation type
ENSG00000228984	TF binding region
TRIM60P15	TF binding region
LINC00293	TF binding region
RNU6-656P	TF binding region
PPARGC1A	miRNA target sites
USO1	miRNA target sites

Extended variants
information (count: 800 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:800 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181573803	chr8:47690816-47690817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs532602402	chr8:47690850-47690851	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs143736908	chr8:47690889-47690890	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs185951301	chr8:47690891-47690892	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs552293966	chr8:47690896-47690897	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs576472096	chr8:47690905-47690906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs145804019	chr8:47690912-47690913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs562169284	chr8:47690956-47690957	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs189673957	chr8:47690964-47690965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs541310915	chr8:47690969-47690970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs559661086	chr8:47690984-47690985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs182339030	chr8:47691013-47691014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs370310221	chr8:47691040-47691041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs373777767	chr8:47691041-47691042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs148566484	chr8:47691055-47691056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs564166424	chr8:47691061-47691062	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs142959421	chr8:47691075-47691076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs114707398	chr8:47691078-47691079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs568137702	chr8:47691100-47691101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs529136195	chr8:47691104-47691105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs547703265	chr8:47691126-47691127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs186323946	chr8:47691143-47691144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs191121585	chr8:47691158-47691159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs557883316	chr8:47691173-47691174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs80210533	chr8:47691203-47691204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs537127525	chr8:47691222-47691223	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs372242027	chr8:47691226-47691227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs555866484	chr8:47691231-47691232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs573889612	chr8:47691232-47691233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs541275872	chr8:47691249-47691250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs151120536	chr8:47691260-47691261	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs577924534	chr8:47691273-47691274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs141080304	chr8:47691288-47691289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs116649450	chr8:47691291-47691292	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs531361839	chr8:47691295-47691296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs543136213	chr8:47691326-47691327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs561806412	chr8:47691362-47691363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs529096005	chr8:47691373-47691374	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs547615211	chr8:47691383-47691384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs114248701	chr8:47691384-47691385	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs146931429	chr8:47691422-47691423	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs372387954	chr8:47691440-47691441	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs368621928	chr8:47691451-47691452	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs537496325	chr8:47691483-47691484	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs373689114	chr8:47691513-47691514	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs573524621	chr8:47691579-47691580	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs369625807	chr8:47691580-47691581	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs367758810	chr8:47691607-47691608	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs555578657	chr8:47691623-47691624	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs559602231	chr8:47691644-47691645	ZNF genes & repeats	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
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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47690800-47693200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr8:47692200-47692400	ZNF genes & repeats	Fetal Brain Female	brain
3	chr8:47692800-47693000	Active TSS	Fetal Heart	heart
4	chr8:47693000-47695600	Weak transcription	Fetal Heart	heart
5	chr8:47695600-47696000	Active TSS	Fetal Heart	heart
6	chr8:47695600-47696200	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr8:47695800-47696800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:47696200-47697400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:47696600-47697400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr8:47698400-47699200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:47698600-47699000	Weak transcription	Fetal Heart	heart
12	chr8:47698800-47700800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:47698800-47700800	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr8:47699000-47699800	Active TSS	Fetal Heart	heart
15	chr8:47699200-47701600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:47699400-47700400	ZNF genes & repeats	Lung	lung
17	chr8:47709000-47709400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr8:47709000-47709400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
19	chr8:47733800-47736400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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