Variant report

Variant	esv8252
Chromosome Location	chr8:78299849-78308209
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	FOS	chr8:78301384-78301631	MCF10A-Er-Src	breast:	n/a	chr8:78301468-78301478 chr8:78301468-78301478 chr8:78301468-78301478
2	FOXA2	chr8:78308116-78309118	HepG2	liver:	n/a	n/a
3	MAFK	chr8:78307244-78307409	HepG2	liver:	n/a	n/a
4	MAFK	chr8:78303562-78303617	HepG2	liver:	n/a	n/a
5	POLR2A	chr8:78306310-78306377	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr8:78302529-78302729	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr8:78303385-78303579	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr8:78305077-78305424	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr8:78305069-78305425	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chr8:78302395-78302405	MCF-7	breast:	n/a	n/a
11	POLR2A	chr8:78307694-78307814	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr8:78302293-78302425	MCF-7	breast:	n/a	n/a
13	REST	chr8:78304869-78305526	H1-neurons	neurons:	n/a	n/a
14	RUNX3	chr8:78304516-78304920	GM12878	blood:	n/a	chr8:78304733-78304742 chr8:78304733-78304742
15	STAT3	chr8:78301366-78301614	MCF10A-Er-Src	breast:	n/a	chr8:78301382-78301396
16	STAT3	chr8:78300755-78300955	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000254366	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374596918	chr8:78300815-78300816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563167381	chr8:78300888-78300889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530343124	chr8:78300909-78300910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368334300	chr8:78300911-78300912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548357647	chr8:78300990-78300991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564352950	chr8:78301014-78301015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12114659	chr8:78301017-78301018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566770686	chr8:78301030-78301031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527376114	chr8:78301037-78301038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139083416	chr8:78301050-78301051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570457471	chr8:78301090-78301091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537821543	chr8:78301116-78301117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190942124	chr8:78301193-78301194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528152109	chr8:78301222-78301223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182889655	chr8:78301255-78301256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535779707	chr8:78301276-78301277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528578475	chr8:78301277-78301278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554003660	chr8:78301304-78301305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372056327	chr8:78301307-78301308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572307365	chr8:78301326-78301327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375933445	chr8:78301380-78301381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142986786	chr8:78301509-78301510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558961701	chr8:78301516-78301517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539972236	chr8:78301529-78301530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536668637	chr8:78301595-78301596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561461571	chr8:78301766-78301767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186616165	chr8:78301789-78301790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577078473	chr8:78306341-78306342	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs180760418	chr8:78307288-78307289	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs6473035	chr8:78307302-78307303	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs544546986	chr8:78307365-78307366	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs181928480	chr8:78307731-78307732	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs534082310	chr8:78307758-78307759	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs558904445	chr8:78307764-78307765	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs140155691	chr8:78307784-78307785	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs544204527	chr8:78307796-78307797	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs562814836	chr8:78307814-78307815	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs531302471	chr8:78308155-78308156	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs535350199	chr8:78308174-78308175	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs79804310	chr8:78308189-78308190	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs535779721	chr8:78308205-78308206	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	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
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
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
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	17016436	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	19455253	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Urothelial cell carcinoma	18451213	CNVD
Intellectual disability	21802062	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:78300800-78301800	Enhancers	Muscle Satellite Cultured Cells	--
2	chr8:78308200-78309200	Enhancers	HepG2	liver

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