Variant report

Variant	esv1003205
Chromosome Location	chr6:35754791-35764368
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	BHLHE40	chr6:35758607-35758807	HepG2	liver:	n/a	n/a
2	BHLHE40	chr6:35760699-35760763	K562	blood:	n/a	n/a
3	CEBPB	chr6:35758448-35758812	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr6:35758454-35758819	A549	lung:	n/a	n/a
5	CEBPB	chr6:35758463-35758813	HepG2	liver:	n/a	n/a
6	CEBPB	chr6:35758405-35758921	A549	lung:	n/a	n/a
7	CEBPB	chr6:35758461-35758817	K562	blood:	n/a	n/a
8	CEBPB	chr6:35758455-35758789	K562	blood:	n/a	n/a
9	CEBPB	chr6:35758561-35758682	HepG2	liver:	n/a	n/a
10	CEBPB	chr6:35758467-35758814	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr6:35756271-35756457	HepG2	liver:	n/a	n/a
12	CEBPB	chr6:35758462-35758824	IMR90	lung:	n/a	n/a
13	CEBPB	chr6:35762562-35762885	K562	blood:	n/a	n/a
14	CEBPB	chr6:35758444-35758768	MCF-7	breast:	n/a	n/a
15	CTCF	chr6:35756160-35756310	GM12865	blood:	n/a	n/a
16	CTCF	chr6:35754680-35754830	HMEC	breast:	n/a	n/a
17	CTCF	chr6:35760640-35760790	GM12868	blood:	n/a	n/a
18	CTCF	chr6:35754720-35754870	HCPEpiC	choroid plexus:	n/a	n/a
19	CTCF	chr6:35754820-35754970	GM12867	blood:	n/a	n/a
20	CTCF	chr6:35755520-35755670	GM12875	blood:	n/a	n/a
21	CTCF	chr6:35760300-35760450	AG04449	skin:	n/a	n/a
22	CTCF	chr6:35756680-35756830	GM12873	blood:	n/a	chr6:35756799-35756809
23	E2F4	chr6:35759420-35759424	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F6	chr6:35761091-35761480	H1-hESC	embryonic stem cell:	n/a	chr6:35761248-35761260
25	E2F6	chr6:35761233-35761368	K562	blood:	n/a	chr6:35761248-35761260
26	E2F6	chr6:35761154-35761630	H1-hESC	embryonic stem cell:	n/a	chr6:35761248-35761260
27	EGR1	chr6:35763349-35763621	K562	blood:	n/a	chr6:35763477-35763491 chr6:35763478-35763491 chr6:35763479-35763490 chr6:35763479-35763490 chr6:35763479-35763488
28	FOXA1	chr6:35764086-35764407	T-47D	breast:	n/a	n/a
29	FOXA1	chr6:35764145-35764400	T-47D	breast:	n/a	n/a
30	GTF2F1	chr6:35763645-35763723	K562	blood:	n/a	n/a
31	HNF4A	chr6:35755377-35755745	HepG2	liver:	n/a	chr6:35755619-35755634 chr6:35755620-35755632 chr6:35755620-35755633 chr6:35755620-35755632 chr6:35755619-35755634 chr6:35755620-35755632 chr6:35755619-35755634 chr6:35755618-35755633 chr6:35755619-35755634
32	HNF4A	chr6:35755424-35755827	HepG2	liver:	n/a	chr6:35755619-35755634 chr6:35755620-35755632 chr6:35755620-35755633 chr6:35755620-35755632 chr6:35755619-35755634 chr6:35755620-35755632 chr6:35755619-35755634 chr6:35755618-35755633 chr6:35755619-35755634
33	MAFF	chr6:35762658-35762770	HepG2	liver:	n/a	chr6:35762725-35762739 chr6:35762719-35762737
34	MAFF	chr6:35756435-35756454	HepG2	liver:	n/a	n/a
35	MAFF	chr6:35758034-35758157	K562	blood:	n/a	n/a
36	MAFF	chr6:35762574-35762875	K562	blood:	n/a	chr6:35762725-35762739 chr6:35762719-35762737
37	MAFK	chr6:35762562-35762855	HepG2	liver:	n/a	chr6:35762726-35762736 chr6:35762726-35762735 chr6:35762722-35762742 chr6:35762721-35762736 chr6:35762725-35762739
38	MAFK	chr6:35762557-35762899	K562	blood:	n/a	chr6:35762726-35762736 chr6:35762726-35762735 chr6:35762722-35762742 chr6:35762721-35762736 chr6:35762725-35762739
39	MAFK	chr6:35756515-35756538	HepG2	liver:	n/a	n/a
40	MAFK	chr6:35762633-35762864	Hela-S3	cervix:	n/a	chr6:35762726-35762736 chr6:35762726-35762735 chr6:35762722-35762742 chr6:35762721-35762736 chr6:35762725-35762739
41	MAFK	chr6:35758054-35758231	HepG2	liver:	n/a	n/a
42	MAFK	chr6:35762579-35762870	HepG2	liver:	n/a	chr6:35762726-35762736 chr6:35762726-35762735 chr6:35762722-35762742 chr6:35762721-35762736 chr6:35762725-35762739
43	MAX	chr6:35761196-35761505	K562	blood:	n/a	n/a
44	MAX	chr6:35761205-35761542	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAX	chr6:35761223-35761454	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAX	chr6:35761136-35761546	H1-hESC	embryonic stem cell:	n/a	n/a
47	MYC	chr6:35754738-35754886	MCF-7	breast:	n/a	n/a
48	MYC	chr6:35762319-35762823	K562	blood:	n/a	chr6:35762704-35762713
49	MYC	chr6:35758531-35758646	H1-hESC	embryonic stem cell:	n/a	n/a
50	MYC	chr6:35755514-35755562	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:35756942-35756992	AG04449	skin:	fetal
2	chr6:35754906-35754956	PFSK-1	brain:	n/a
3	chr6:35755609-35755659	ovcar-3	ovarian:	n/a
4	chr6:35756942-35756992	Hela-S3	cervix:	n/a
5	chr6:35756942-35756992	HRCEpiC	kidney:	n/a
6	chr6:35756942-35756992	RPTEC	kidney:	n/a
7	chr6:35755609-35755659	SKMC	muscle:	n/a
8	chr6:35755609-35755659	LNCaP	prostate:	n/a
9	chr6:35755609-35755659	RPTEC	kidney:	n/a
10	chr6:35754796-35754846	HepG2	liver:	n/a
11	chr6:35755609-35755659	HL-60	blood:	n/a
12	chr6:35754906-35754956	GM12891	blood:	n/a
13	chr6:35754906-35754956	ProgFib	skin:	n/a
14	chr6:35754758-35754808	HCT-116	colon:	n/a
15	chr6:35754758-35754808	HEEpiC	esophagus:	n/a
16	chr6:35754796-35754846	Caco-2	colon:	n/a
17	chr6:35755609-35755659	PANC-1	pancreas:	n/a
18	chr6:35754758-35754808	Hela-S3	cervix:	n/a
19	chr6:35754906-35754956	HCF	heart:	n/a
20	chr6:35762844-35762894	ovcar-3	ovarian:	n/a
21	chr6:35754796-35754846	NHDF-neo	bronchial:	n/a
22	chr6:35755609-35755659	SK-N-MC	brain:	n/a
23	chr6:35754796-35754846	AoSMC	blood vessel:	n/a
24	chr6:35762844-35762894	NHDF-neo	bronchial:	n/a
25	chr6:35754906-35754956	NB4	blood:	n/a
26	chr6:35754906-35754956	H1-hESC	embryonic stem cell:	embryo
27	chr6:35762844-35762894	HRPEpiC	eye:	n/a
28	chr6:35755609-35755659	HepG2	liver:	n/a
29	chr6:35755609-35755659	HEEpiC	esophagus:	n/a
30	chr6:35754796-35754846	HRCEpiC	kidney:	n/a
31	chr6:35754796-35754846	K562	blood:	n/a
32	chr6:35755609-35755659	AG04450	lung:	fetal
33	chr6:35762844-35762894	GM12892	blood:	n/a
34	chr6:35754906-35754956	PrEC	prostate:	n/a
35	chr6:35756942-35756992	GM12892	blood:	n/a
36	chr6:35754906-35754956	Jurkat	blood:	n/a
37	chr6:35754758-35754808	NB4	blood:	n/a
38	chr6:35754758-35754808	K562	blood:	n/a
39	chr6:35754758-35754808	HL-60	blood:	n/a
40	chr6:35762844-35762894	ProgFib	skin:	n/a
41	chr6:35754906-35754956	NH-A	brain:	n/a
42	chr6:35754906-35754956	BE2_C	brain:	n/a
43	chr6:35754758-35754808	NH-A	brain:	n/a
44	chr6:35754796-35754846	PrEC	prostate:	n/a
45	chr6:35762844-35762894	Hela-S3	cervix:	n/a
46	chr6:35755609-35755659	Caco-2	colon:	n/a
47	chr6:35754758-35754808	SK-N-SH	brain:	n/a
48	chr6:35755609-35755659	U87	brain:	n/a
49	chr6:35762844-35762894	NT2-D1	testis:	n/a
50	chr6:35754906-35754956	Hepatocyte	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:35435012..35436668-chr6:35752247..35755003,2	MCF-7	breast:
2	chr6:35762283..35764266-chr6:35764644..35767426,2	MCF-7	breast:
3	chr6:35753638..35758618-chr6:35762629..35767095,7	K562	blood:
4	chr6:35760846..35763760-chr6:36163836..36166432,2	K562	blood:
5	chr6:35747942..35750162-chr6:35760132..35762411,2	MCF-7	breast:
6	chr6:35742984..35745597-chr6:35763979..35765844,2	MCF-7	breast:
7	chr6:35762307..35765078-chr6:35772426..35774241,2	MCF-7	breast:
8	chr6:35753847..35759789-chr6:35762486..35768711,9	K562	blood:
9	chr6:35753638..35758618-chr6:35762629..35767095,7	K562	blood:
10	chr6:35744273..35746880-chr6:35754146..35757378,3	K562	blood:
11	chr6:35760015..35761880-chr6:35763280..35765561,2	K562	blood:
12	chr6:35762091..35764853-chr6:35765476..35768100,2	MCF-7	breast:
13	chr6:35753847..35759789-chr6:35762486..35768711,9	K562	blood:

Variant related genes	Relation type
CLPSL1	TF binding region
CLPSL1	CpG island
ENSG00000198755	chromatin interactions
ENSG00000197753	chromatin interactions
ENSG00000204140	chromatin interactions
ENSG00000137392	chromatin interactions
ENSG00000096070	chromatin interactions
ENSG00000196748	chromatin interactions
ENSG00000246982	chromatin interactions

Extended variants
information (count: 539 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:539 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372138137	chr6:35754802-35754803	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs375641275	chr6:35754819-35754820	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs201955618	chr6:35754822-35754823	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs370601237	chr6:35754823-35754824	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs202069420	chr6:35754847-35754848	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs370003426	chr6:35754869-35754870	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs189055425	chr6:35754899-35754900	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs2766589	chr6:35754915-35754916	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs527272870	chr6:35754916-35754917	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs199711177	chr6:35754939-35754940	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs567215656	chr6:35754964-35754965	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs536070448	chr6:35754995-35754996	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs149236311	chr6:35755024-35755025	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs182052295	chr6:35755038-35755039	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs569463836	chr6:35755092-35755093	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs370406730	chr6:35755104-35755105	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs370948489	chr6:35755106-35755107	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs558467743	chr6:35755114-35755115	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs186388963	chr6:35755122-35755123	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs540225565	chr6:35755133-35755134	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs555849750	chr6:35755134-35755135	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs574000870	chr6:35755146-35755147	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs113492347	chr6:35755224-35755225	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs544009854	chr6:35755230-35755231	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs562384818	chr6:35755244-35755245	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs376158264	chr6:35755268-35755269	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs532959298	chr6:35755269-35755270	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs372610782	chr6:35755348-35755349	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs544932871	chr6:35755365-35755366	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs560175407	chr6:35755376-35755377	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs111960951	chr6:35755389-35755390	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs548674437	chr6:35755428-35755429	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs567358704	chr6:35755484-35755485	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs531394696	chr6:35755489-35755490	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs549898138	chr6:35755523-35755524	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs6927363	chr6:35755547-35755548	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs540022227	chr6:35755552-35755553	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs558440227	chr6:35755579-35755580	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs369132151	chr6:35755609-35755610	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs373408423	chr6:35755610-35755611	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs567022968	chr6:35755617-35755618	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs57267367	chr6:35755618-35755619	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs534200139	chr6:35755619-35755620	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs371334705	chr6:35755633-35755634	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs373782315	chr6:35755649-35755650	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs12211728	chr6:35755658-35755659	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs371335450	chr6:35755660-35755661	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs200011151	chr6:35755674-35755675	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs201083630	chr6:35755680-35755681	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs141726973	chr6:35755682-35755683	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35746400-35755400	Weak transcription	Pancreas	Pancrea
2	chr6:35753000-35754800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:35754200-35755400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:35754400-35754800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
5	chr6:35754400-35755000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
6	chr6:35754400-35755000	Bivalent Enhancer	Right Ventricle	heart
7	chr6:35754400-35755000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
8	chr6:35754400-35755200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr6:35754400-35756000	Bivalent Enhancer	Placenta	Placenta
10	chr6:35754600-35754800	Bivalent Enhancer	Primary B cells from cord blood	blood
11	chr6:35754600-35754800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:35754600-35754800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:35754600-35754800	Bivalent Enhancer	Adipose Nuclei	Adipose
14	chr6:35754600-35754800	Bivalent Enhancer	Fetal Intestine Large	intestine
15	chr6:35754600-35754800	Flanking Bivalent TSS/Enh	Lung	lung
16	chr6:35754600-35754800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
17	chr6:35754600-35754800	Flanking Active TSS	HMEC	breast
18	chr6:35754600-35755000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr6:35754600-35755000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr6:35754600-35755000	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:35754600-35755000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:35754600-35755000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:35754600-35755000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:35754600-35755000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:35754600-35755000	Bivalent/Poised TSS	Colonic Mucosa	Colon
26	chr6:35754600-35755000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
27	chr6:35754600-35755000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr6:35754600-35755000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr6:35754600-35755000	Bivalent Enhancer	Left Ventricle	heart
30	chr6:35754600-35755000	Bivalent Enhancer	Ovary	ovary
31	chr6:35754600-35755200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:35754600-35755200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:35754600-35755200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:35754600-35755200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:35754600-35755400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
36	chr6:35754600-35755600	Bivalent Enhancer	Liver	Liver
37	chr6:35754800-35755000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
38	chr6:35754800-35755000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:35754800-35755000	Bivalent Enhancer	Esophagus	oesophagus
40	chr6:35754800-35755000	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr6:35754800-35755000	Flanking Bivalent TSS/Enh	HMEC	breast
42	chr6:35754800-35755200	Bivalent Enhancer	Lung	lung
43	chr6:35754800-35755600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:35754800-35755600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
45	chr6:35755000-35755200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
46	chr6:35755000-35755200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:35755000-35755200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
48	chr6:35755000-35755200	Bivalent Enhancer	A549	lung
49	chr6:35755000-35755200	Bivalent Enhancer	HMEC	breast
50	chr6:35755000-35755400	Bivalent Enhancer	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links