Variant report

Variant	nsv886008
Chromosome Location	chr6:65650698-65722525
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	chr6:65678779-65679145	HepG2	liver:	n/a	chr6:65678958-65678969 chr6:65678960-65678971
2	CEBPB	chr6:65655382-65655691	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr6:65716700-65717039	HepG2	liver:	n/a	chr6:65716874-65716885
4	CEBPB	chr6:65655435-65655701	K562	blood:	n/a	n/a
5	CEBPB	chr6:65716699-65717038	H1-hESC	embryonic stem cell:	n/a	chr6:65716874-65716885
6	CEBPB	chr6:65675891-65675987	Hela-S3	cervix:	n/a	chr6:65675924-65675933
7	CEBPB	chr6:65678799-65679086	A549	lung:	n/a	chr6:65678958-65678969 chr6:65678960-65678971
8	CEBPB	chr6:65687931-65688253	HepG2	liver:	n/a	chr6:65688100-65688111
9	CEBPB	chr6:65655355-65655724	IMR90	lung:	n/a	n/a
10	CEBPB	chr6:65655359-65655621	MCF-7	breast:	n/a	n/a
11	CEBPB	chr6:65694879-65695194	HepG2	liver:	n/a	chr6:65695020-65695031
12	CEBPB	chr6:65714828-65715032	HepG2	liver:	n/a	chr6:65714880-65714891
13	CEBPB	chr6:65655375-65655700	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr6:65714814-65714999	A549	lung:	n/a	chr6:65714880-65714891
15	CEBPB	chr6:65675755-65676074	IMR90	lung:	n/a	chr6:65675924-65675933
16	CEBPB	chr6:65655287-65655751	MCF-7	breast:	n/a	n/a
17	CEBPB	chr6:65678779-65679107	IMR90	lung:	n/a	chr6:65678958-65678969 chr6:65678960-65678971
18	CEBPB	chr6:65675810-65676027	HepG2	liver:	n/a	chr6:65675924-65675933
19	CEBPB	chr6:65675819-65675920	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr6:65694841-65695250	Hela-S3	cervix:	n/a	chr6:65695020-65695031
21	CEBPB	chr6:65694902-65695171	H1-hESC	embryonic stem cell:	n/a	chr6:65695020-65695031
22	CEBPB	chr6:65678825-65679127	H1-hESC	embryonic stem cell:	n/a	chr6:65678958-65678969 chr6:65678960-65678971
23	CEBPB	chr6:65688032-65688232	A549	lung:	n/a	chr6:65688100-65688111
24	CEBPB	chr6:65655361-65655722	A549	lung:	n/a	n/a
25	CEBPB	chr6:65681969-65682239	HepG2	liver:	n/a	chr6:65682126-65682137 chr6:65682100-65682111
26	CEBPB	chr6:65655365-65655724	HepG2	liver:	n/a	n/a
27	CEBPB	chr6:65675769-65676009	A549	lung:	n/a	chr6:65675924-65675933
28	CHD2	chr6:65673398-65673482	HepG2	liver:	n/a	n/a
29	CTCF	chr6:65695720-65695870	HCPEpiC	choroid plexus:	n/a	n/a
30	CTCF	chr6:65695720-65695870	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr6:65695700-65695850	HPF	lung:	n/a	n/a
32	CTCF	chr6:65695780-65695930	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr6:65695660-65695810	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr6:65695740-65695890	HPAF	blood vessel:	n/a	n/a
35	CTCF	chr6:65695700-65695850	BE2_C	brain:	n/a	n/a
36	CTCF	chr6:65695763-65695872	MCF-7	breast:	n/a	n/a
37	CTCF	chr6:65695700-65695850	HepG2	liver:	n/a	n/a
38	CTCF	chr6:65659240-65659390	GM12865	blood:	n/a	n/a
39	CTCF	chr6:65695680-65695830	AG04450	lung:	n/a	n/a
40	CTCF	chr6:65695775-65695886	Pancreas_OC	pancreas:	n/a	n/a
41	CTCF	chr6:65695720-65695870	HBMEC	blood vessel:	n/a	n/a
42	CTCF	chr6:65714320-65714470	HepG2	liver:	n/a	n/a
43	CTCF	chr6:65695720-65695870	MCF-7	breast:	n/a	n/a
44	CTCF	chr6:65695700-65695850	HCM	heart:	n/a	n/a
45	CTCF	chr6:65714280-65714430	HBMEC	blood vessel:	n/a	n/a
46	CTCF	chr6:65695720-65695870	HEK293	kidney:	n/a	n/a
47	CTCF	chr6:65695700-65695850	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr6:65695729-65695884	MCF-7	breast:	n/a	n/a
49	CTCF	chr6:65680596-65680698	GM20000	blood:	n/a	n/a
50	CTCF	chr6:65695680-65695830	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:65695796..65698770-chr6:65700016..65702026,2	K562	blood:
2	chr6:65695796..65698770-chr6:65700016..65702026,2	K562	blood:
3	chr6:65644339..65646278-chr6:65650850..65653473,2	K562	blood:

Variant related genes	Relation type
ENSG00000256352	TF binding region
ENSG00000221312	TF binding region

Extended variants
information (count: 1990 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1990 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73767194	chr6:65658846-65658847	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375400803	chr6:65658860-65658861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150573592	chr6:65659007-65659008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542052800	chr6:65659050-65659051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183567931	chr6:65659058-65659059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562333872	chr6:65659071-65659072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531213994	chr6:65659093-65659094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551260937	chr6:65659121-65659122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571182417	chr6:65659143-65659144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532097619	chr6:65659196-65659197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186765257	chr6:65659238-65659239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11758096	chr6:65659244-65659245	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs9294632	chr6:65659275-65659276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191572146	chr6:65659318-65659319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554447176	chr6:65659368-65659369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114585421	chr6:65659378-65659379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576959236	chr6:65659381-65659382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72873092	chr6:65659435-65659436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376618986	chr6:65659468-65659469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556641737	chr6:65659470-65659471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556811358	chr6:65659472-65659473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112270154	chr6:65659498-65659499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545780644	chr6:65659500-65659501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182872246	chr6:65659582-65659583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573233441	chr6:65659592-65659593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542341362	chr6:65659617-65659618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562055981	chr6:65659627-65659628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9453120	chr6:65659677-65659678	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs553136979	chr6:65659709-65659710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188338868	chr6:65659747-65659748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564729871	chr6:65659786-65659787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9453121	chr6:65659806-65659807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs551883067	chr6:65659871-65659872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559329352	chr6:65659872-65659873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528160762	chr6:65659873-65659874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs386702092	chr6:65659898-65659899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9445445	chr6:65659899-65659900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536807249	chr6:65659900-65659901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550398932	chr6:65659905-65659906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116584536	chr6:65659933-65659934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539374644	chr6:65659971-65659972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114153140	chr6:65659975-65659976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147348917	chr6:65660011-65660012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535502006	chr6:65660027-65660028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139421320	chr6:65660046-65660047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28484766	chr6:65660110-65660111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147945259	chr6:65660121-65660122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564717668	chr6:65660132-65660133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73767195	chr6:65660146-65660147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs540961681	chr6:65660163-65660164	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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65658800-65659400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:65659000-65659400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr6:65659000-65659600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:65659000-65659600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr6:65659400-65661000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:65661000-65661400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:65664400-65666200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:65664600-65665200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:65664800-65666400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr6:65665000-65665200	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr6:65665200-65665800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr6:65665200-65665800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:65665200-65665800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr6:65665600-65666000	Enhancers	Primary hematopoietic stem cells	blood
15	chr6:65665800-65666200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr6:65665800-65666400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:65672000-65672200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:65672200-65673400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:65672400-65673600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:65673400-65673600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:65673600-65677800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:65673600-65678600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:65677800-65679000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:65678600-65679000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr6:65679000-65679800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:65679000-65697200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:65679800-65680600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:65695000-65695200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr6:65695000-65695200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr6:65695000-65696000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:65696000-65697000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:65697000-65697600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:65697000-65697600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:65697000-65698600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr6:65697200-65697600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr6:65697200-65698000	Enhancers	Placenta Amnion	Placenta Amnion
37	chr6:65697400-65698200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr6:65697400-65698200	Enhancers	Pancreas	Pancrea
39	chr6:65697600-65699000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr6:65697600-65700000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:65697800-65698000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr6:65698000-65698200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr6:65698000-65698400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr6:65698200-65698800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr6:65698200-65699200	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr6:65698200-65705000	Weak transcription	Pancreas	Pancrea
47	chr6:65698800-65699000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr6:65699000-65699200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr6:65699000-65700400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr6:65700000-65700400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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