Variant report

Variant	esv3339547
Chromosome Location	chr8:69607698-69609696
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	chr8:69608129-69608466	ECC-1	luminal epithelium:	n/a	chr8:69608351-69608362
2	CEBPB	chr8:69608166-69608540	HepG2	liver:	n/a	chr8:69608351-69608362
3	CEBPB	chr8:69608178-69608517	HepG2	liver:	n/a	chr8:69608351-69608362
4	CEBPB	chr8:69608167-69608541	A549	lung:	n/a	chr8:69608351-69608362
5	CEBPB	chr8:69608107-69608461	MCF-7	breast:	n/a	chr8:69608351-69608362
6	CEBPB	chr8:69608145-69608518	A549	lung:	n/a	chr8:69608351-69608362
7	CEBPB	chr8:69608142-69608461	ECC-1	luminal epithelium:	n/a	chr8:69608351-69608362
8	CEBPB	chr8:69608215-69608446	HepG2	liver:	n/a	chr8:69608351-69608362
9	CEBPB	chr8:69608082-69608464	A549	lung:	n/a	chr8:69608351-69608362
10	CEBPB	chr8:69608185-69608570	MCF-7	breast:	n/a	chr8:69608351-69608362
11	CEBPB	chr8:69608270-69608404	HepG2	liver:	n/a	chr8:69608351-69608362
12	CEBPB	chr8:69608160-69608546	K562	blood:	n/a	chr8:69608351-69608362
13	CEBPB	chr8:69608158-69608544	Hela-S3	cervix:	n/a	chr8:69608351-69608362
14	CEBPB	chr8:69608159-69608547	H1-hESC	embryonic stem cell:	n/a	chr8:69608351-69608362
15	CEBPB	chr8:69608166-69608547	IMR90	lung:	n/a	chr8:69608351-69608362
16	MYC	chr8:69608195-69608440	H1-hESC	embryonic stem cell:	n/a	n/a
17	STAT3	chr8:69609120-69609262	MCF10A-Er-Src	breast:	n/a	n/a
18	USF1	chr8:69608141-69608464	H1-hESC	embryonic stem cell:	n/a	n/a
19	USF1	chr8:69608190-69608393	H1-hESC	embryonic stem cell:	n/a	n/a
20	USF2	chr8:69608250-69608414	Hela-S3	cervix:	n/a	chr8:69608311-69608322

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:69604610..69607448-chr8:69608614..69611000,3	MCF-7	breast:
2	chr8:69603997..69607183-chr8:69609527..69612798,4	MCF-7	breast:

Variant related genes	Relation type
RNA5SP269	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533132758	chr8:69608205-69608206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201112108	chr8:69608293-69608294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566403268	chr8:69608330-69608331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535538127	chr8:69608341-69608342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139766531	chr8:69608349-69608350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568824152	chr8:69608357-69608358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537480849	chr8:69608373-69608374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs367764308	chr8:69608401-69608402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558005217	chr8:69608424-69608425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565832106	chr8:69608536-69608537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571626485	chr8:69608643-69608644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200446222	chr8:69608649-69608650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534088946	chr8:69608661-69608662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143973137	chr8:69608662-69608663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574201780	chr8:69608783-69608784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181696207	chr8:69608814-69608815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186797851	chr8:69608845-69608846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556417690	chr8:69608889-69608890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115584203	chr8:69608952-69608953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545440074	chr8:69608984-69608985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571082544	chr8:69609030-69609031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372219998	chr8:69609058-69609059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551991398	chr8:69609105-69609106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533274812	chr8:69609116-69609117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536964349	chr8:69609147-69609148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539563277	chr8:69609154-69609155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560290084	chr8:69609244-69609245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190804390	chr8:69609247-69609248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs55820094	chr8:69609301-69609302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs10957445	chr8:69609314-69609315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs183359222	chr8:69609327-69609328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188006950	chr8:69609334-69609335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571564221	chr8:69609348-69609349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369881782	chr8:69609382-69609383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534220758	chr8:69609383-69609384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554210218	chr8:69609385-69609386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567834231	chr8:69609401-69609402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536474905	chr8:69609414-69609415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189795411	chr8:69609415-69609416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182637341	chr8:69609450-69609451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150502945	chr8:69609453-69609454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558994516	chr8:69609465-69609466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546424811	chr8:69609605-69609606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188159234	chr8:69609609-69609610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192708309	chr8:69609640-69609641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560219692	chr8:69609660-69609661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529059971	chr8:69609684-69609685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Cancer	16751803	CNVD
Salivary gland tumor	18059337	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	16715129	CNVD
Prostate cancer	16461572	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69608200-69608400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:69608200-69608400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:69608400-69610000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:69609600-69610200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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