Variant report

Variant	nsv603407
Chromosome Location	chr6:65637508-65709059
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	chr6:65675755-65676074	IMR90	lung:	n/a	chr6:65675924-65675933
2	CEBPB	chr6:65655287-65655751	MCF-7	breast:	n/a	n/a
3	CEBPB	chr6:65694841-65695250	Hela-S3	cervix:	n/a	chr6:65695020-65695031
4	CEBPB	chr6:65694879-65695194	HepG2	liver:	n/a	chr6:65695020-65695031
5	CEBPB	chr6:65655359-65655621	MCF-7	breast:	n/a	n/a
6	CEBPB	chr6:65655435-65655701	K562	blood:	n/a	n/a
7	CEBPB	chr6:65678779-65679145	HepG2	liver:	n/a	chr6:65678958-65678969 chr6:65678960-65678971
8	CEBPB	chr6:65688032-65688232	A549	lung:	n/a	chr6:65688100-65688111
9	CEBPB	chr6:65655355-65655724	IMR90	lung:	n/a	n/a
10	CEBPB	chr6:65675810-65676027	HepG2	liver:	n/a	chr6:65675924-65675933
11	CEBPB	chr6:65655375-65655700	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr6:65675891-65675987	Hela-S3	cervix:	n/a	chr6:65675924-65675933
13	CEBPB	chr6:65694902-65695171	H1-hESC	embryonic stem cell:	n/a	chr6:65695020-65695031
14	CEBPB	chr6:65675819-65675920	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr6:65675769-65676009	A549	lung:	n/a	chr6:65675924-65675933
16	CEBPB	chr6:65678779-65679107	IMR90	lung:	n/a	chr6:65678958-65678969 chr6:65678960-65678971
17	CEBPB	chr6:65678799-65679086	A549	lung:	n/a	chr6:65678958-65678969 chr6:65678960-65678971
18	CEBPB	chr6:65678825-65679127	H1-hESC	embryonic stem cell:	n/a	chr6:65678958-65678969 chr6:65678960-65678971
19	CEBPB	chr6:65681969-65682239	HepG2	liver:	n/a	chr6:65682126-65682137 chr6:65682100-65682111
20	CEBPB	chr6:65655365-65655724	HepG2	liver:	n/a	n/a
21	CEBPB	chr6:65687931-65688253	HepG2	liver:	n/a	chr6:65688100-65688111
22	CEBPB	chr6:65655382-65655691	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr6:65655361-65655722	A549	lung:	n/a	n/a
24	CHD2	chr6:65673398-65673482	HepG2	liver:	n/a	n/a
25	CTCF	chr6:65695763-65695872	MCF-7	breast:	n/a	n/a
26	CTCF	chr6:65695720-65695870	MCF-7	breast:	n/a	n/a
27	CTCF	chr6:65695720-65695870	Caco-2	colon:	n/a	n/a
28	CTCF	chr6:65695700-65695850	BE2_C	brain:	n/a	n/a
29	CTCF	chr6:65695760-65695910	BE2_C	brain:	n/a	n/a
30	CTCF	chr6:65695720-65695870	HCPEpiC	choroid plexus:	n/a	n/a
31	CTCF	chr6:65695700-65695850	HCPEpiC	choroid plexus:	n/a	n/a
32	CTCF	chr6:65640800-65640950	HFF	foreskin:	n/a	n/a
33	CTCF	chr6:65695680-65695830	MCF-7	breast:	n/a	n/a
34	CTCF	chr6:65695720-65695870	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr6:65647300-65647450	AG10803	skin:	n/a	n/a
36	CTCF	chr6:65695700-65695850	HepG2	liver:	n/a	n/a
37	CTCF	chr6:65638362-65638407	GM20000	blood:	n/a	n/a
38	CTCF	chr6:65695700-65695850	HCM	heart:	n/a	n/a
39	CTCF	chr6:65638260-65638410	HepG2	liver:	n/a	n/a
40	CTCF	chr6:65680596-65680698	GM20000	blood:	n/a	n/a
41	CTCF	chr6:65695700-65695850	HPF	lung:	n/a	n/a
42	CTCF	chr6:65657320-65657470	GM12875	blood:	n/a	n/a
43	CTCF	chr6:65695729-65695884	MCF-7	breast:	n/a	n/a
44	CTCF	chr6:65695775-65695886	Pancreas_OC	pancreas:	n/a	n/a
45	CTCF	chr6:65695680-65695830	AG04450	lung:	n/a	n/a
46	CTCF	chr6:65695780-65695930	HPAF	blood vessel:	n/a	n/a
47	CTCF	chr6:65695720-65695870	HEK293	kidney:	n/a	n/a
48	CTCF	chr6:65695660-65695810	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr6:65659240-65659390	GM12865	blood:	n/a	n/a
50	CTCF	chr6:65695740-65695890	HPAF	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:65644339..65646278-chr6:65650850..65653473,2	K562	blood:
2	chr6:65639435..65641072-chr6:65642848..65644357,2	MCF-7	breast:
3	chr6:65695796..65698770-chr6:65700016..65702026,2	K562	blood:
4	chr6:65695796..65698770-chr6:65700016..65702026,2	K562	blood:
5	chr6:65644339..65646278-chr6:65650850..65653473,2	K562	blood:
6	chr6:65639435..65641072-chr6:65642848..65644357,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221312	TF binding region

Extended variants
information (count: 1666 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1666 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71553505	chr6:65640608-65640609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114793619	chr6:65640626-65640627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140678828	chr6:65640639-65640640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6925610	chr6:65640640-65640641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78619591	chr6:65640682-65640683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545708211	chr6:65640719-65640720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549615058	chr6:65640746-65640747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144642122	chr6:65640778-65640779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556516551	chr6:65640838-65640839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376283313	chr6:65640854-65640855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538547098	chr6:65640872-65640873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs151209932	chr6:65640920-65640921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570398959	chr6:65640933-65640934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539496211	chr6:65640960-65640961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191739424	chr6:65641012-65641013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552825070	chr6:65641013-65641014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572909020	chr6:65641048-65641049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535241502	chr6:65641049-65641050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555147468	chr6:65641051-65641052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575157428	chr6:65641163-65641164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs16896066	chr6:65641180-65641181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs183524279	chr6:65641183-65641184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187239220	chr6:65641198-65641199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116522520	chr6:65641208-65641209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531307183	chr6:65641221-65641222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529428891	chr6:65641379-65641380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191070821	chr6:65641383-65641384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35976545	chr6:65641395-65641396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79801942	chr6:65641429-65641430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542333215	chr6:65641448-65641449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115973033	chr6:65641463-65641464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113966782	chr6:65641475-65641476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570409703	chr6:65641521-65641522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539026663	chr6:65641522-65641523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76397837	chr6:65641535-65641536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114912791	chr6:65641578-65641579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13199551	chr6:65641581-65641582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs7753625	chr6:65641599-65641600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs79988343	chr6:65641611-65641612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372416861	chr6:65641617-65641618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182100323	chr6:65641624-65641625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557801617	chr6:65641630-65641631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577885897	chr6:65641689-65641690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564827465	chr6:65641695-65641696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186759517	chr6:65641702-65641703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375653327	chr6:65641726-65641727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544372329	chr6:65641797-65641798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554145647	chr6:65641799-65641800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574170941	chr6:65641804-65641805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543190036	chr6:65641808-65641809	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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65640600-65641000	Enhancers	Fetal Brain Female	brain
2	chr6:65640800-65642200	Weak transcription	Esophagus	oesophagus
3	chr6:65642200-65642600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr6:65658800-65659400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:65659000-65659400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr6:65659000-65659600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:65659000-65659600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr6:65659400-65661000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:65661000-65661400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:65664400-65666200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:65664600-65665200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:65664800-65666400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr6:65665000-65665200	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr6:65665200-65665800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr6:65665200-65665800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:65665200-65665800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr6:65665600-65666000	Enhancers	Primary hematopoietic stem cells	blood
18	chr6:65665800-65666200	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr6:65665800-65666400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:65672000-65672200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:65672200-65673400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:65672400-65673600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:65673400-65673600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:65673600-65677800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:65673600-65678600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:65677800-65679000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:65678600-65679000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:65679000-65679800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:65679000-65697200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr6:65679800-65680600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:65695000-65695200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr6:65695000-65695200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr6:65695000-65696000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:65696000-65697000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:65697000-65697600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:65697000-65697600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:65697000-65698600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr6:65697200-65697600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr6:65697200-65698000	Enhancers	Placenta Amnion	Placenta Amnion
40	chr6:65697400-65698200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr6:65697400-65698200	Enhancers	Pancreas	Pancrea
42	chr6:65697600-65699000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr6:65697600-65700000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:65697800-65698000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr6:65698000-65698200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr6:65698000-65698400	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr6:65698200-65698800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr6:65698200-65699200	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr6:65698200-65705000	Weak transcription	Pancreas	Pancrea
50	chr6:65698800-65699000	Enhancers	HUES64 Cell Line	embryonic stem cell

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