Variant report

Variant	nsv933464
Chromosome Location	chr6:65596504-65767718
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	chr6:65675819-65675920	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr6:65675810-65676027	HepG2	liver:	n/a	chr6:65675924-65675933
3	CEBPB	chr6:65655382-65655691	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr6:65694879-65695194	HepG2	liver:	n/a	chr6:65695020-65695031
5	CEBPB	chr6:65624048-65624422	MCF-7	breast:	n/a	chr6:65624191-65624204
6	CEBPB	chr6:65655287-65655751	MCF-7	breast:	n/a	n/a
7	CEBPB	chr6:65716700-65717039	HepG2	liver:	n/a	chr6:65716874-65716885
8	CEBPB	chr6:65600382-65600740	MCF-7	breast:	n/a	n/a
9	CEBPB	chr6:65714814-65714999	A549	lung:	n/a	chr6:65714880-65714891
10	CEBPB	chr6:65655365-65655724	HepG2	liver:	n/a	n/a
11	CEBPB	chr6:65755777-65756072	A549	lung:	n/a	chr6:65755859-65755870 chr6:65755888-65755899
12	CEBPB	chr6:65755738-65756070	IMR90	lung:	n/a	chr6:65755859-65755870 chr6:65755888-65755899
13	CEBPB	chr6:65613037-65613385	HepG2	liver:	n/a	chr6:65613217-65613226 chr6:65613217-65613228 chr6:65613215-65613228
14	CEBPB	chr6:65655361-65655722	A549	lung:	n/a	n/a
15	CEBPB	chr6:65755716-65756078	HepG2	liver:	n/a	chr6:65755859-65755870 chr6:65755888-65755899
16	CEBPB	chr6:65678779-65679107	IMR90	lung:	n/a	chr6:65678958-65678969 chr6:65678960-65678971
17	CEBPB	chr6:65714828-65715032	HepG2	liver:	n/a	chr6:65714880-65714891
18	CEBPB	chr6:65655359-65655621	MCF-7	breast:	n/a	n/a
19	CEBPB	chr6:65678825-65679127	H1-hESC	embryonic stem cell:	n/a	chr6:65678958-65678969 chr6:65678960-65678971
20	CEBPB	chr6:65694902-65695171	H1-hESC	embryonic stem cell:	n/a	chr6:65695020-65695031
21	CEBPB	chr6:65675769-65676009	A549	lung:	n/a	chr6:65675924-65675933
22	CEBPB	chr6:65675891-65675987	Hela-S3	cervix:	n/a	chr6:65675924-65675933
23	CEBPB	chr6:65678779-65679145	HepG2	liver:	n/a	chr6:65678958-65678969 chr6:65678960-65678971
24	CEBPB	chr6:65687931-65688253	HepG2	liver:	n/a	chr6:65688100-65688111
25	CEBPB	chr6:65675755-65676074	IMR90	lung:	n/a	chr6:65675924-65675933
26	CEBPB	chr6:65655375-65655700	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr6:65623864-65624542	MCF-7	breast:	n/a	chr6:65624191-65624204
28	CEBPB	chr6:65655435-65655701	K562	blood:	n/a	n/a
29	CEBPB	chr6:65757460-65757715	HepG2	liver:	n/a	chr6:65757602-65757613
30	CEBPB	chr6:65681969-65682239	HepG2	liver:	n/a	chr6:65682126-65682137 chr6:65682100-65682111
31	CEBPB	chr6:65688032-65688232	A549	lung:	n/a	chr6:65688100-65688111
32	CEBPB	chr6:65625912-65626201	HepG2	liver:	n/a	chr6:65626064-65626077 chr6:65626064-65626075 chr6:65626064-65626077 chr6:65626066-65626077
33	CEBPB	chr6:65755702-65756077	Hela-S3	cervix:	n/a	chr6:65755859-65755870 chr6:65755888-65755899
34	CEBPB	chr6:65600236-65601065	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr6:65678799-65679086	A549	lung:	n/a	chr6:65678958-65678969 chr6:65678960-65678971
36	CEBPB	chr6:65655355-65655724	IMR90	lung:	n/a	n/a
37	CEBPB	chr6:65755724-65756051	K562	blood:	n/a	chr6:65755859-65755870 chr6:65755888-65755899
38	CEBPB	chr6:65694841-65695250	Hela-S3	cervix:	n/a	chr6:65695020-65695031
39	CEBPB	chr6:65716699-65717038	H1-hESC	embryonic stem cell:	n/a	chr6:65716874-65716885
40	CEBPB	chr6:65623734-65624686	Hela-S3	cervix:	n/a	chr6:65624191-65624204
41	CHD2	chr6:65673398-65673482	HepG2	liver:	n/a	n/a
42	CHD2	chr6:65740417-65740502	HepG2	liver:	n/a	n/a
43	CTCF	chr6:65695680-65695830	MCF-7	breast:	n/a	n/a
44	CTCF	chr6:65695720-65695870	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr6:65723540-65723690	HepG2	liver:	n/a	n/a
46	CTCF	chr6:65695740-65695890	HPAF	blood vessel:	n/a	n/a
47	CTCF	chr6:65731488-65731566	Lung_OC	lung:	n/a	n/a
48	CTCF	chr6:65723560-65723710	GM12873	blood:	n/a	n/a
49	CTCF	chr6:65723572-65723673	MCF-7	breast:	n/a	n/a
50	CTCF	chr6:65695700-65695850	HCPEpiC	choroid plexus:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:65595975..65598086-chr6:65600070..65602994,2	K562	blood:
2	chr6:65695796..65698770-chr6:65700016..65702026,2	K562	blood:
3	chr6:65761200..65763394-chr6:65766854..65768992,2	K562	blood:
4	chr6:65644339..65646278-chr6:65650850..65653473,2	K562	blood:
5	chr6:65695796..65698770-chr6:65700016..65702026,2	K562	blood:
6	chr11:62312608..62314638-chr6:65744579..65746564,2	MCF-7	breast:
7	chr6:65644339..65646278-chr6:65650850..65653473,2	K562	blood:
8	chr6:65595975..65598086-chr6:65600070..65602994,2	K562	blood:
9	chr6:65639435..65641072-chr6:65642848..65644357,2	MCF-7	breast:
10	chr6:65761200..65763394-chr6:65766854..65768992,2	K562	blood:
11	chr6:65639435..65641072-chr6:65642848..65644357,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221312	TF binding region
ENSG00000256352	TF binding region
ENSG00000257058	chromatin interactions
ENSG00000124942	chromatin interactions

Extended variants
information (count: 3191 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:3191 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546318971	chr6:65597432-65597433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9453097	chr6:65597460-65597461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2350282	chr6:65597464-65597465	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs549146457	chr6:65597501-65597502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187142953	chr6:65597529-65597530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531951754	chr6:65597543-65597544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149965256	chr6:65597583-65597584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571912971	chr6:65597626-65597627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190403331	chr6:65597662-65597663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532119841	chr6:65597722-65597723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543793482	chr6:65597788-65597789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546660488	chr6:65597806-65597807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566558929	chr6:65597839-65597840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535513236	chr6:65597841-65597842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555516697	chr6:65597874-65597875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575304420	chr6:65597902-65597903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144993364	chr6:65597917-65597918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557762418	chr6:65597966-65597967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183748294	chr6:65597968-65597969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540247410	chr6:65597988-65597989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34969550	chr6:65598070-65598071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200422556	chr6:65598071-65598072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71553503	chr6:65598072-65598073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376586526	chr6:65598073-65598074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs193262550	chr6:65598113-65598114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566671447	chr6:65598114-65598115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531767702	chr6:65598214-65598215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545632583	chr6:65598222-65598223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74690890	chr6:65598244-65598245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528024812	chr6:65598305-65598306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548129402	chr6:65598317-65598318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566438539	chr6:65598345-65598346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528904148	chr6:65598349-65598350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566249315	chr6:65598406-65598407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149077786	chr6:65598419-65598420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537634286	chr6:65598465-65598466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557965146	chr6:65598467-65598468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143132203	chr6:65598483-65598484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79004971	chr6:65598504-65598505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76968605	chr6:65598506-65598507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533809667	chr6:65598510-65598511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553667313	chr6:65598567-65598568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377017826	chr6:65598605-65598606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372844614	chr6:65598628-65598629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556238358	chr6:65598633-65598634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147715063	chr6:65598688-65598689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570922087	chr6:65598713-65598714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12663170	chr6:65598755-65598756	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs112893081	chr6:65598804-65598805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565504695	chr6:65598918-65598919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Breast cancer	22522925	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65597400-65598200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr6:65598000-65598600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:65598200-65598400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr6:65598200-65600200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr6:65599200-65599800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr6:65599400-65599600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr6:65599600-65600000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr6:65599600-65600600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:65599800-65600600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:65600000-65600400	Enhancers	HUVEC	blood vessel
11	chr6:65600000-65600600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr6:65600200-65600600	Active TSS	Hela-S3	cervix
13	chr6:65600200-65601600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr6:65600200-65601800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr6:65600200-65603800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr6:65600400-65601000	Active TSS	NH-A	brain
17	chr6:65600400-65601600	Flanking Active TSS	HUVEC	blood vessel
18	chr6:65600600-65601200	Enhancers	Hela-S3	cervix
19	chr6:65600600-65601600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr6:65600600-65601600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr6:65600600-65601600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr6:65600600-65604200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr6:65600800-65601400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:65601000-65601400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:65601000-65601600	Enhancers	NH-A	brain
26	chr6:65601200-65601600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:65601200-65601600	Flanking Active TSS	Hela-S3	cervix
28	chr6:65601600-65602600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr6:65601600-65602600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr6:65601600-65602800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr6:65601600-65602800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr6:65601600-65602800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr6:65601600-65603000	Enhancers	HUVEC	blood vessel
34	chr6:65601800-65602200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr6:65602200-65603800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr6:65602600-65603200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr6:65602600-65603400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr6:65602800-65603200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr6:65602800-65603400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr6:65603000-65603200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr6:65612200-65613400	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr6:65612600-65613400	Enhancers	Fetal Brain Female	brain
43	chr6:65613200-65613600	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr6:65614000-65614600	Enhancers	HUVEC	blood vessel
45	chr6:65614200-65615400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr6:65614600-65615000	Flanking Active TSS	HUVEC	blood vessel
47	chr6:65615000-65615600	Enhancers	HUVEC	blood vessel
48	chr6:65621200-65622000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:65623600-65624400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:65623800-65624200	Enhancers	Hela-S3	cervix

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