Variant report

Variant	nsv1017557
Chromosome Location	chr6:65500548-65697493
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	ARID3A	chr6:65525598-65525841	HepG2	liver:	n/a	n/a
2	CCNT2	chr6:65571222-65571362	K562	blood:	n/a	n/a
3	CEBPB	chr6:65522058-65522393	IMR90	lung:	n/a	chr6:65522209-65522222
4	CEBPB	chr6:65678799-65679086	A549	lung:	n/a	chr6:65678958-65678969 chr6:65678960-65678971
5	CEBPB	chr6:65572177-65572453	IMR90	lung:	n/a	chr6:65572340-65572351
6	CEBPB	chr6:65675891-65675987	Hela-S3	cervix:	n/a	chr6:65675924-65675933
7	CEBPB	chr6:65675769-65676009	A549	lung:	n/a	chr6:65675924-65675933
8	CEBPB	chr6:65694902-65695171	H1-hESC	embryonic stem cell:	n/a	chr6:65695020-65695031
9	CEBPB	chr6:65538481-65538811	HepG2	liver:	n/a	n/a
10	CEBPB	chr6:65600382-65600740	MCF-7	breast:	n/a	n/a
11	CEBPB	chr6:65509375-65509592	HepG2	liver:	n/a	chr6:65509500-65509517 chr6:65509502-65509513
12	CEBPB	chr6:65694879-65695194	HepG2	liver:	n/a	chr6:65695020-65695031
13	CEBPB	chr6:65675819-65675920	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr6:65525648-65525848	HepG2	liver:	n/a	chr6:65525767-65525778
15	CEBPB	chr6:65600236-65601065	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr6:65655359-65655621	MCF-7	breast:	n/a	n/a
17	CEBPB	chr6:65688032-65688232	A549	lung:	n/a	chr6:65688100-65688111
18	CEBPB	chr6:65655375-65655700	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr6:65678825-65679127	H1-hESC	embryonic stem cell:	n/a	chr6:65678958-65678969 chr6:65678960-65678971
20	CEBPB	chr6:65655355-65655724	IMR90	lung:	n/a	n/a
21	CEBPB	chr6:65681969-65682239	HepG2	liver:	n/a	chr6:65682126-65682137 chr6:65682100-65682111
22	CEBPB	chr6:65694841-65695250	Hela-S3	cervix:	n/a	chr6:65695020-65695031
23	CEBPB	chr6:65675755-65676074	IMR90	lung:	n/a	chr6:65675924-65675933
24	CEBPB	chr6:65655435-65655701	K562	blood:	n/a	n/a
25	CEBPB	chr6:65613037-65613385	HepG2	liver:	n/a	chr6:65613217-65613226 chr6:65613217-65613228 chr6:65613215-65613228
26	CEBPB	chr6:65572146-65572394	A549	lung:	n/a	chr6:65572340-65572351
27	CEBPB	chr6:65675810-65676027	HepG2	liver:	n/a	chr6:65675924-65675933
28	CEBPB	chr6:65572184-65572481	HepG2	liver:	n/a	chr6:65572340-65572351
29	CEBPB	chr6:65655287-65655751	MCF-7	breast:	n/a	n/a
30	CEBPB	chr6:65678779-65679145	HepG2	liver:	n/a	chr6:65678958-65678969 chr6:65678960-65678971
31	CEBPB	chr6:65655361-65655722	A549	lung:	n/a	n/a
32	CEBPB	chr6:65678779-65679107	IMR90	lung:	n/a	chr6:65678958-65678969 chr6:65678960-65678971
33	CEBPB	chr6:65687931-65688253	HepG2	liver:	n/a	chr6:65688100-65688111
34	CEBPB	chr6:65525597-65526422	HepG2	liver:	n/a	chr6:65525915-65525928 chr6:65525767-65525778 chr6:65526247-65526258
35	CEBPB	chr6:65623734-65624686	Hela-S3	cervix:	n/a	chr6:65624191-65624204
36	CEBPB	chr6:65624048-65624422	MCF-7	breast:	n/a	chr6:65624191-65624204
37	CEBPB	chr6:65623864-65624542	MCF-7	breast:	n/a	chr6:65624191-65624204
38	CEBPB	chr6:65625912-65626201	HepG2	liver:	n/a	chr6:65626064-65626077 chr6:65626064-65626075 chr6:65626064-65626077 chr6:65626066-65626077
39	CEBPB	chr6:65522061-65522426	HepG2	liver:	n/a	chr6:65522209-65522222
40	CEBPB	chr6:65655365-65655724	HepG2	liver:	n/a	n/a
41	CEBPB	chr6:65522087-65522373	A549	lung:	n/a	chr6:65522209-65522222
42	CEBPB	chr6:65655382-65655691	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr6:65673398-65673482	HepG2	liver:	n/a	n/a
44	CTCF	chr6:65695700-65695850	HPF	lung:	n/a	n/a
45	CTCF	chr6:65640800-65640950	HFF	foreskin:	n/a	n/a
46	CTCF	chr6:65526357-65526403	Lung_OC	lung:	n/a	n/a
47	CTCF	chr6:65548644-65548964	MCF-7	breast:	n/a	chr6:65548796-65548809
48	CTCF	chr6:65548719-65548858	MCF-7	breast:	n/a	chr6:65548796-65548809
49	CTCF	chr6:65548654-65548963	GM12878	blood:	n/a	chr6:65548796-65548809
50	CTCF	chr6:65548720-65548870	HCPEpiC	choroid plexus:	n/a	chr6:65548796-65548809

No.	Distal block	Cell Line	Cell type
1	chr6:65485742..65487439-chr6:65500901..65503831,2	MCF-7	breast:
2	chr6:65519121..65521622-chr6:65533277..65535390,2	MCF-7	breast:
3	chr6:65644339..65646278-chr6:65650850..65653473,2	K562	blood:
4	chr6:65595975..65598086-chr6:65600070..65602994,2	K562	blood:
5	chr6:65508586..65510925-chr6:65512987..65515640,2	K562	blood:
6	chr6:65639435..65641072-chr6:65642848..65644357,2	MCF-7	breast:
7	chr6:65595975..65598086-chr6:65600070..65602994,2	K562	blood:
8	chr6:65519121..65521622-chr6:65533277..65535390,2	MCF-7	breast:
9	chr6:65644339..65646278-chr6:65650850..65653473,2	K562	blood:
10	chr6:65504361..65506628-chr6:65508181..65511156,2	K562	blood:
11	chr6:65508586..65510925-chr6:65512987..65515640,2	K562	blood:
12	chr6:65505444..65508032-chr6:65566927..65569730,2	MCF-7	breast:
13	chr6:65695796..65698770-chr6:65700016..65702026,2	K562	blood:
14	chr6:65504361..65506628-chr6:65508181..65511156,2	K562	blood:
15	chr6:65505444..65508032-chr6:65566927..65569730,2	MCF-7	breast:
16	chr3:76820204..76820882-chr6:65566726..65567360,2	MCF-7	breast:
17	chr6:65639435..65641072-chr6:65642848..65644357,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221312	TF binding region

Extended variants
information (count: 2114 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2114 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375714554	chr6:65500569-65500570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9345514	chr6:65500633-65500634	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs556879718	chr6:65500668-65500669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200612854	chr6:65500711-65500712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537835033	chr6:65500719-65500720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539785780	chr6:65500730-65500731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556295063	chr6:65500733-65500734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529344486	chr6:65500827-65500828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548091005	chr6:65500843-65500844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185114958	chr6:65500923-65500924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114997338	chr6:65500930-65500931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374913451	chr6:65500937-65500938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573798722	chr6:65501003-65501004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189320271	chr6:65501070-65501071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369310187	chr6:65501083-65501084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9354137	chr6:65501116-65501117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531546922	chr6:65501127-65501128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544994107	chr6:65501137-65501138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182212172	chr6:65501148-65501149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150178061	chr6:65501203-65501204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73768419	chr6:65501228-65501229	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs547884520	chr6:65501284-65501285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187284749	chr6:65501292-65501293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530292597	chr6:65501312-65501313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74949123	chr6:65501345-65501346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570352064	chr6:65501376-65501377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375473168	chr6:65513433-65513434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs573677511	chr6:65513434-65513435	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs144704828	chr6:65513485-65513486	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs74883088	chr6:65513486-65513487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs531723913	chr6:65513489-65513490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs60290063	chr6:65513509-65513510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs565503729	chr6:65513510-65513511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs12523929	chr6:65513535-65513536	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs548084863	chr6:65513595-65513596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs372622686	chr6:65513624-65513625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs561140223	chr6:65513625-65513626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs528411697	chr6:65513660-65513661	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs115785265	chr6:65513674-65513675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs548708817	chr6:65513704-65513705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs74944251	chr6:65513764-65513765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs537565269	chr6:65513793-65513794	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs377434403	chr6:65513803-65513804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs571094927	chr6:65513847-65513848	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs76827581	chr6:65513862-65513863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs553648852	chr6:65513865-65513866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs57010370	chr6:65513885-65513886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs542969072	chr6:65513902-65513903	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs141496967	chr6:65513905-65513906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs571422908	chr6:65513923-65513924	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65498200-65501200	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr6:65498400-65501000	Enhancers	Primary hematopoietic stem cells	blood
3	chr6:65498800-65501200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:65499800-65501400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:65513400-65514000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:65513600-65514000	ZNF genes & repeats	Esophagus	oesophagus
7	chr6:65514000-65514400	Weak transcription	Esophagus	oesophagus
8	chr6:65521000-65521800	Enhancers	Fetal Stomach	stomach
9	chr6:65521000-65521800	Enhancers	Rectal Smooth Muscle	rectum
10	chr6:65525600-65526000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr6:65525600-65526200	Enhancers	HepG2	liver
12	chr6:65532000-65532800	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr6:65532800-65533400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr6:65533400-65534000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr6:65533600-65534000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:65534000-65534200	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr6:65543800-65544600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:65570000-65571200	Enhancers	Adipose Nuclei	Adipose
19	chr6:65571200-65572200	Weak transcription	Adipose Nuclei	Adipose
20	chr6:65572200-65572400	Enhancers	Adipose Nuclei	Adipose
21	chr6:65588400-65589200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:65589200-65589800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:65589800-65590000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:65597400-65598200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr6:65598000-65598600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:65598200-65598400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr6:65598200-65600200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr6:65599200-65599800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr6:65599400-65599600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr6:65599600-65600000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr6:65599600-65600600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr6:65599800-65600600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr6:65600000-65600400	Enhancers	HUVEC	blood vessel
34	chr6:65600000-65600600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr6:65600200-65600600	Active TSS	Hela-S3	cervix
36	chr6:65600200-65601600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr6:65600200-65601800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr6:65600200-65603800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr6:65600400-65601000	Active TSS	NH-A	brain
40	chr6:65600400-65601600	Flanking Active TSS	HUVEC	blood vessel
41	chr6:65600600-65601200	Enhancers	Hela-S3	cervix
42	chr6:65600600-65601600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr6:65600600-65601600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr6:65600600-65601600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr6:65600600-65604200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr6:65600800-65601400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:65601000-65601400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:65601000-65601600	Enhancers	NH-A	brain
49	chr6:65601200-65601600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr6:65601200-65601600	Flanking Active TSS	Hela-S3	cervix

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