Variant report

Variant	esv3474058
Chromosome Location	chr6:65710992-65715717
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	chr6:65714828-65715032	HepG2	liver:	n/a	chr6:65714880-65714891
2	CEBPB	chr6:65714814-65714999	A549	lung:	n/a	chr6:65714880-65714891
3	CTCF	chr6:65714280-65714430	HBMEC	blood vessel:	n/a	n/a
4	CTCF	chr6:65714320-65714470	HEK293	kidney:	n/a	n/a
5	CTCF	chr6:65714320-65714470	HepG2	liver:	n/a	n/a
6	MAFK	chr6:65712125-65712461	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000256352	TF binding region

Extended variants
information (count: 249 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:249 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114584967	chr6:65710999-65711000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs202083852	chr6:65711001-65711002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140151852	chr6:65711006-65711007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71739755	chr6:65711007-65711008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545579870	chr6:65711038-65711039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548731694	chr6:65711054-65711055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559355312	chr6:65711072-65711073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9363315	chr6:65711096-65711097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs188319854	chr6:65711121-65711122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568284194	chr6:65711127-65711128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565811212	chr6:65711136-65711137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550929275	chr6:65711149-65711150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570747546	chr6:65711153-65711154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs193183462	chr6:65711174-65711175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553094975	chr6:65711186-65711187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200945498	chr6:65711202-65711203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566914694	chr6:65711261-65711262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184571323	chr6:65711275-65711276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75222179	chr6:65711300-65711301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139324316	chr6:65711317-65711318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77780741	chr6:65711342-65711343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558080687	chr6:65711343-65711344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs72875987	chr6:65711353-65711354	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs545744950	chr6:65711355-65711356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559103850	chr6:65711367-65711368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72875988	chr6:65711385-65711386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs10944774	chr6:65711425-65711426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs556813109	chr6:65711433-65711434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375648927	chr6:65711467-65711468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187787618	chr6:65711473-65711474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530767240	chr6:65711502-65711503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575529901	chr6:65711520-65711521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191098718	chr6:65711524-65711525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547381267	chr6:65711529-65711530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139156817	chr6:65711531-65711532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149977090	chr6:65711788-65711789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533084871	chr6:65711869-65711870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546936586	chr6:65711874-65711875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566771587	chr6:65711895-65711896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183611506	chr6:65711896-65711897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372708643	chr6:65711912-65711913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145218519	chr6:65711925-65711926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538004993	chr6:65711936-65711937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199688320	chr6:65711947-65711948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200714920	chr6:65711948-65711949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199952358	chr6:65711949-65711950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201395768	chr6:65711950-65711951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs66474536	chr6:65711951-65711952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200947982	chr6:65711952-65711953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs5876934	chr6:65711954-65711955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65707000-65716000	Weak transcription	Pancreas	Pancrea
2	chr6:65708400-65712000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:65712000-65715000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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