Variant report

Variant	esv1794587
Chromosome Location	chr17:16389498-16395680
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	ATF1	chr17:16391799-16392168	K562	blood:	n/a	n/a
2	ATF2	chr17:16389623-16390054	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr17:16389718-16390261	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr17:16395605-16395896	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr17:16391564-16392217	K562	blood:	n/a	n/a
6	CCNT2	chr17:16391794-16392076	K562	blood:	n/a	n/a
7	CCNT2	chr17:16395610-16395877	K562	blood:	n/a	n/a
8	CCNT2	chr17:16395130-16395353	K562	blood:	n/a	n/a
9	CEBPD	chr17:16391820-16392086	K562	blood:	n/a	n/a
10	CREB1	chr17:16395537-16395791	A549	lung:	n/a	n/a
11	CTBP2	chr17:16389146-16390218	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr17:16395640-16395790	GM12868	blood:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
13	CTCF	chr17:16395560-16395710	NHEK	skin:	n/a	chr17:16395670-16395686 chr17:16395664-16395677 chr17:16395664-16395673
14	CTCF	chr17:16389540-16389690	HAc	cerebellar:	n/a	n/a
15	CTCF	chr17:16389600-16389750	BJ	skin:	n/a	n/a
16	CTCF	chr17:16395643-16395755	GM12892	blood:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
17	CTCF	chr17:16395620-16395770	AG09319	gingival:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
18	CTCF	chr17:16395602-16395772	H1-hESC	embryonic stem cell:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
19	CTCF	chr17:16395536-16395742	GM12878	blood:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
20	CTCF	chr17:16389640-16389790	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr17:16395610-16395762	Pancreas_OC	pancreas:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
22	CTCF	chr17:16389600-16389750	AG09319	gingival:	n/a	n/a
23	CTCF	chr17:16395540-16395690	HCT-116	colon:	n/a	chr17:16395670-16395686 chr17:16395664-16395677 chr17:16395664-16395673
24	CTCF	chr17:16395580-16395730	HCM	heart:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
25	CTCF	chr17:16395620-16395770	WERI-Rb-1	eye:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
26	CTCF	chr17:16395600-16395750	NHDF-neo	bronchial:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
27	CTCF	chr17:16395576-16395783	HepG2	liver:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
28	CTCF	chr17:16395640-16395790	AG04449	skin:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
29	CTCF	chr17:16389640-16389790	HPAF	blood vessel:	n/a	n/a
30	CTCF	chr17:16395600-16395750	GM12866	blood:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
31	CTCF	chr17:16395520-16395770	NHDF-neo	bronchial:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
32	CTCF	chr17:16395590-16395786	Spleen_OC	spleen:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
33	CTCF	chr17:16389440-16389590	BJ	skin:	n/a	n/a
34	CTCF	chr17:16389560-16389710	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr17:16395588-16395824	K562	blood:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
36	CTCF	chr17:16389580-16389730	HMEC	breast:	n/a	n/a
37	CTCF	chr17:16389660-16389810	HBMEC	blood vessel:	n/a	n/a
38	CTCF	chr17:16395640-16395745	K562	blood:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
39	CTCF	chr17:16395580-16395730	HEK293	kidney:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
40	CTCF	chr17:16389400-16389550	HRPEpiC	eye:	n/a	n/a
41	CTCF	chr17:16395620-16395770	SK-N-SH_RA	brain:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
42	CTCF	chr17:16389640-16389790	AG09309	skin:	n/a	n/a
43	CTCF	chr17:16395620-16395770	Caco-2	colon:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
44	CTCF	chr17:16395580-16395730	HBMEC	blood vessel:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
45	CTCF	chr17:16395550-16395906	HepG2	liver:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
46	CTCF	chr17:16395590-16395740	SK-N-SH_RA	brain:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
47	CTCF	chr17:16395600-16395750	HepG2	liver:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
48	CTCF	chr17:16395658-16395746	GM19239	blood:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
49	CTCF	chr17:16395629-16395718	GM13976	blood:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
50	CTCF	chr17:16395640-16395790	HCPEpiC	choroid plexus:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:16394848-16394898	HCPEpiC	choroid plexus:	n/a
2	chr17:16395099-16395149	AoSMC	blood vessel:	n/a
3	chr17:16391039-16391089	HMEC	breast:	n/a
4	chr17:16394677-16394727	Hepatocyte	liver:	n/a
5	chr17:16394677-16394727	HPAEpiC	pulmonary alveolar:	n/a
6	chr17:16395644-16395694	GM06990	blood:	n/a
7	chr17:16395449-16395499	GM12892	blood:	n/a
8	chr17:16395449-16395499	SK-N-SH	brain:	n/a
9	chr17:16394618-16394668	HL-60	blood:	n/a
10	chr17:16391039-16391089	HCT-116	colon:	n/a
11	chr17:16391039-16391089	ovcar-3	ovarian:	n/a
12	chr17:16395449-16395499	NHBE	bronchial:	n/a
13	chr17:16394848-16394898	MCF10A-Er-Src	breast:	n/a
14	chr17:16395644-16395694	AoSMC	blood vessel:	n/a
15	chr17:16394618-16394668	HCM	heart:	n/a
16	chr17:16394618-16394668	GM12892	blood:	n/a
17	chr17:16395099-16395149	NHDF-neo	bronchial:	n/a
18	chr17:16395449-16395499	AG10803	skin:	n/a
19	chr17:16395099-16395149	MCF10A-Er-Src	breast:	n/a
20	chr17:16395644-16395694	SK-N-SH_RA	brain:	n/a
21	chr17:16391039-16391089	NT2-D1	testis:	n/a
22	chr17:16395099-16395149	ovcar-3	ovarian:	n/a
23	chr17:16394899-16394949	GM12878	blood:	n/a
24	chr17:16394618-16394668	NT2-D1	testis:	n/a
25	chr17:16395644-16395694	H1-hESC	embryonic stem cell:	embryo
26	chr17:16395099-16395149	SAEC	small airway:	n/a
27	chr17:16394848-16394898	RPTEC	kidney:	n/a
28	chr17:16395099-16395149	SK-N-SH	brain:	n/a
29	chr17:16394618-16394668	ECC-1	luminal epithelium:	n/a
30	chr17:16395644-16395694	HCM	heart:	n/a
31	chr17:16394848-16394898	HCM	heart:	n/a
32	chr17:16395449-16395499	NH-A	brain:	n/a
33	chr17:16395449-16395499	Caco-2	colon:	n/a
34	chr17:16394677-16394727	MCF10A-Er-Src	breast:	n/a
35	chr17:16394618-16394668	Hela-S3	cervix:	n/a
36	chr17:16394677-16394727	T-47D	breast:	n/a
37	chr17:16395449-16395499	HNPCEpiC	eye:	n/a
38	chr17:16394618-16394668	HAEpiC	amniotic membrane:	n/a
39	chr17:16395449-16395499	SKMC	muscle:	n/a
40	chr17:16394848-16394898	GM12892	blood:	n/a
41	chr17:16394848-16394898	GM12891	blood:	n/a
42	chr17:16394618-16394668	GM19239	blood:	n/a
43	chr17:16394618-16394668	HEK293	kidney:	embryo
44	chr17:16395449-16395499	GM12891	blood:	n/a
45	chr17:16391039-16391089	MCF10A-Er-Src	breast:	n/a
46	chr17:16394848-16394898	HL-60	blood:	n/a
47	chr17:16395449-16395499	H1-hESC	embryonic stem cell:	embryo
48	chr17:16394899-16394949	SK-N-SH_RA	brain:	n/a
49	chr17:16391039-16391089	AG04450	lung:	fetal
50	chr17:16395449-16395499	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:16340606..16343390-chr17:16393092..16395708,2	MCF-7	breast:
2	chr17:16284234..16285917-chr17:16391089..16393205,2	MCF-7	breast:
3	chr17:16391427..16391927-chr9:138791063..138791845,2	Hela-S3	cervix:
4	chr17:16388461..16390561-chr17:16439173..16440871,2	MCF-7	breast:
5	chr17:16379752..16382103-chr17:16386990..16389784,2	MCF-7	breast:
6	chr17:16366570..16369549-chr17:16387763..16390396,2	MCF-7	breast:
7	chr17:16116365..16119285-chr17:16395133..16397532,2	K562	blood:
8	chr17:16387996..16389898-chr17:16398901..16401613,2	MCF-7	breast:
9	chr17:16371050..16373790-chr17:16387962..16391461,3	MCF-7	breast:
10	chr17:16391590..16393614-chr17:16393948..16396286,3	MCF-7	breast:
11	chr17:16388573..16391176-chr17:16394299..16396980,2	K562	blood:
12	chr17:16386326..16389299-chr17:16390889..16393298,2	K562	blood:
13	chr17:16385737..16387459-chr17:16392390..16394414,2	MCF-7	breast:
14	chr17:16374663..16376189-chr17:16388387..16389969,2	MCF-7	breast:
15	chr17:16281117..16284005-chr17:16388491..16391199,2	MCF-7	breast:

Variant related genes	Relation type
FAM211A	TF binding region
FAM211A	CpG island
ENSG00000170315	chromatin interactions
ENSG00000181350	chromatin interactions
ENSG00000141027	chromatin interactions
ENSG00000175061	chromatin interactions

Extended variants
information (count: 229 )
Associated
traits (count: 159 )

Variant overlapped rSNPs/rCNVs (count:229 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11078349	chr17:16389498-16389499	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs139598778	chr17:16389506-16389507	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs533462011	chr17:16389550-16389551	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542028935	chr17:16389580-16389581	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs73980166	chr17:16389620-16389621	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs530959362	chr17:16389634-16389635	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs78933393	chr17:16389672-16389673	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs551032281	chr17:16389686-16389687	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372594834	chr17:16389691-16389692	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs144421414	chr17:16389717-16389718	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs369958112	chr17:16389718-16389719	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs113977770	chr17:16389762-16389763	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs546651001	chr17:16389839-16389840	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs565985933	chr17:16389846-16389847	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs534904436	chr17:16389857-16389858	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs147402374	chr17:16389916-16389917	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs190785966	chr17:16389939-16389940	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs537175347	chr17:16389958-16389959	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557034787	chr17:16389990-16389991	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs576835748	chr17:16389996-16389997	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs539420309	chr17:16390041-16390042	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs552653447	chr17:16390123-16390124	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs573243214	chr17:16390136-16390137	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs140030896	chr17:16390221-16390222	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs561973618	chr17:16390240-16390241	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs145428597	chr17:16390241-16390242	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs544447498	chr17:16390243-16390244	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs145229214	chr17:16390246-16390247	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs533224960	chr17:16390250-16390251	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs75559610	chr17:16390259-16390260	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs560489059	chr17:16390286-16390287	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs76959597	chr17:16390287-16390288	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs559839677	chr17:16390318-16390319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs200482577	chr17:16390323-16390324	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs201586171	chr17:16390331-16390332	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs369021764	chr17:16390336-16390337	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs78189296	chr17:16390391-16390392	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs142248220	chr17:16390427-16390428	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs115249197	chr17:16390449-16390450	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs550455400	chr17:16390462-16390463	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs564137672	chr17:16390470-16390471	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs16959752	chr17:16390519-16390520	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs539151125	chr17:16390559-16390560	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs552597628	chr17:16390565-16390566	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs181582744	chr17:16390571-16390572	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs540785478	chr17:16390623-16390624	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs535780834	chr17:16390629-16390630	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs555658027	chr17:16390647-16390648	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs575507197	chr17:16390648-16390649	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs184538024	chr17:16390699-16390700	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:159)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Acute myeloid leukemia	17237825	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17142309	CNVD
Autism	22102821	CNVD
Gastric cancer	18160780	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Melanoma	22183965	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:665 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16375200-16390400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr17:16381000-16390000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr17:16381200-16392600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr17:16381400-16389600	Weak transcription	A549	lung
5	chr17:16385800-16392200	Genic enhancers	Fetal Intestine Small	intestine
6	chr17:16386000-16389600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr17:16386200-16392600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:16387400-16390400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr17:16387600-16390600	Flanking Active TSS	Fetal Brain Female	brain
10	chr17:16387600-16390800	Enhancers	Fetal Brain Male	brain
11	chr17:16387600-16392800	Enhancers	Fetal Lung	lung
12	chr17:16387600-16393000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:16387600-16393000	Enhancers	Placenta	Placenta
14	chr17:16387800-16389600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:16387800-16389600	Enhancers	HSMMtube	muscle
16	chr17:16387800-16390600	Enhancers	Brain Substantia Nigra	brain
17	chr17:16387800-16392400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr17:16387800-16392600	Enhancers	Fetal Heart	heart
19	chr17:16387800-16393000	Enhancers	Ovary	ovary
20	chr17:16388000-16390600	Enhancers	Fetal Stomach	stomach
21	chr17:16388200-16389600	Enhancers	Brain Anterior Caudate	brain
22	chr17:16388200-16389600	Enhancers	Colon Smooth Muscle	Colon
23	chr17:16388200-16389800	Enhancers	Fetal Muscle Leg	muscle
24	chr17:16388200-16390000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr17:16388200-16390000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr17:16388200-16390200	Weak transcription	K562	blood
27	chr17:16388200-16390400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr17:16388200-16391000	Enhancers	Fetal Muscle Trunk	muscle
29	chr17:16388200-16392200	Enhancers	Spleen	Spleen
30	chr17:16388200-16392600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr17:16388200-16392800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr17:16388400-16389600	Enhancers	NHLF	lung
33	chr17:16388400-16390000	Enhancers	Brain Cingulate Gyrus	brain
34	chr17:16388400-16391200	Enhancers	Stomach Mucosa	stomach
35	chr17:16388400-16392000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr17:16388400-16392800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr17:16388600-16390000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr17:16388600-16390600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr17:16388600-16390600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr17:16388600-16392400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr17:16388800-16389600	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr17:16388800-16389600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr17:16388800-16389800	Enhancers	NHDF-Ad	bronchial
44	chr17:16388800-16392400	Enhancers	Gastric	stomach
45	chr17:16389000-16389600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr17:16389000-16389600	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr17:16389000-16389600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr17:16389000-16389600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr17:16389000-16389600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr17:16389000-16389600	Enhancers	Small Intestine	intestine

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