Variant report

Variant	esv3370289
Chromosome Location	chr8:62759298-62764396
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	chr8:62763376-62763641	Hela-S3	cervix:	n/a	n/a
2	FOS	chr8:62763408-62763598	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr8:62763448-62763481	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr8:62763565-62763584	MCF10A-Er-Src	breast:	n/a	n/a
5	FOXA1	chr8:62762935-62763492	HepG2	liver:	n/a	n/a
6	FOXA2	chr8:62762863-62763558	A549	lung:	n/a	n/a
7	FOXA2	chr8:62763030-62763483	A549	lung:	n/a	n/a
8	MAX	chr8:62763404-62763600	Hela-S3	cervix:	n/a	n/a
9	MYC	chr8:62763499-62763584	MCF-7	breast:	n/a	n/a
10	POLR2A	chr8:62763473-62763602	MCF-7	breast:	n/a	n/a
11	POLR2A	chr8:62763460-62763470	MCF-7	breast:	n/a	n/a
12	POLR2A	chr8:62760161-62760388	K562	blood:	n/a	n/a
13	POLR2A	chr8:62763308-62763550	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr8:62763539-62763563	A549	lung:	n/a	n/a
15	POLR2A	chr8:62763486-62763536	A549	lung:	n/a	n/a
16	POLR2A	chr8:62763562-62763563	MCF-7	breast:	n/a	n/a
17	SMC3	chr8:62763546-62763746	Hela-S3	cervix:	n/a	n/a
18	STAT3	chr8:62763878-62763909	GM12878	blood:	n/a	n/a
19	STAT3	chr8:62763384-62763642	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr8:62763401-62763629	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr8:62763384-62763645	MCF10A-Er-Src	breast:	n/a	n/a
22	TCF7L2	chr8:62763454-62763728	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000254119	TF binding region

Extended variants
information (count: 200 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:200 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567222795	chr8:62760312-62760313	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs537836967	chr8:62760333-62760334	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs556233318	chr8:62760360-62760361	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs571953032	chr8:62760374-62760375	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs538989727	chr8:62760380-62760381	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs532017787	chr8:62761408-62761409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187813278	chr8:62761453-62761454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566236480	chr8:62761461-62761462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142450225	chr8:62761476-62761477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146496795	chr8:62761496-62761497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192764574	chr8:62761514-62761515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548353605	chr8:62761521-62761522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569938476	chr8:62761527-62761528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537106474	chr8:62761595-62761596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147623105	chr8:62761627-62761628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376840819	chr8:62761650-62761651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570972714	chr8:62761656-62761657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149082136	chr8:62761660-62761661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183230178	chr8:62761676-62761677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572221950	chr8:62761688-62761689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542963931	chr8:62761694-62761695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554768261	chr8:62761721-62761722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576315498	chr8:62761722-62761723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543498835	chr8:62761747-62761748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564830046	chr8:62761756-62761757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532276611	chr8:62761774-62761775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540654844	chr8:62761811-62761812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559329152	chr8:62761815-62761816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530303783	chr8:62761830-62761831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548487581	chr8:62761877-62761878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143208667	chr8:62761892-62761893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531004623	chr8:62761908-62761909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188404545	chr8:62761924-62761925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148272829	chr8:62761929-62761930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535145108	chr8:62761936-62761937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553060618	chr8:62761955-62761956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199609329	chr8:62761965-62761966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568478342	chr8:62761969-62761970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191955243	chr8:62761990-62761991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552092006	chr8:62761991-62761992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184987095	chr8:62761992-62761993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141296532	chr8:62762004-62762005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367862745	chr8:62762010-62762011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543245665	chr8:62762026-62762027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370648321	chr8:62762054-62762055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187751509	chr8:62762055-62762056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368468201	chr8:62762073-62762074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541142042	chr8:62762086-62762087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559053021	chr8:62762098-62762099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529642926	chr8:62762103-62762104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	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
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
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
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62761400-62763400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:62763200-62763800	Active TSS	Hela-S3	cervix
3	chr8:62763400-62764200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr8:62763800-62764200	Enhancers	Hela-S3	cervix
5	chr8:62763800-62764400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr8:62764200-62765600	Weak transcription	Hela-S3	cervix

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