Variant report

Variant	esv3323619
Chromosome Location	chr17:16394252-16396800
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	BACH1	chr17:16395605-16395896	H1-hESC	embryonic stem cell:	n/a	n/a
2	CCNT2	chr17:16395130-16395353	K562	blood:	n/a	n/a
3	CCNT2	chr17:16395610-16395877	K562	blood:	n/a	n/a
4	CEBPB	chr17:16396459-16396647	K562	blood:	n/a	chr17:16396510-16396523
5	CEBPB	chr17:16395863-16395945	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD1	chr17:16395919-16395928	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr17:16395706-16395890	H1-hESC	embryonic stem cell:	n/a	chr17:16395748-16395758
8	CREB1	chr17:16395537-16395791	A549	lung:	n/a	n/a
9	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
10	CTCF	chr17:16395640-16395745	K562	blood:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
11	CTCF	chr17:16395620-16395770	Caco-2	colon:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
12	CTCF	chr17:16395600-16395750	NHDF-neo	bronchial:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
13	CTCF	chr17:16395662-16395753	Kidney_OC	kidney:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
14	CTCF	chr17:16395620-16395770	AG09319	gingival:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
15	CTCF	chr17:16395660-16395810	MCF-7	breast:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
16	CTCF	chr17:16395639-16395696	Lung_OC	lung:	n/a	chr17:16395670-16395686 chr17:16395664-16395677 chr17:16395664-16395673
17	CTCF	chr17:16395640-16395790	AG04449	skin:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
18	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
19	CTCF	chr17:16395588-16395771	K562	blood:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
20	CTCF	chr17:16395600-16395750	GM12866	blood:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
21	CTCF	chr17:16395615-16395757	GM10266	blood:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
22	CTCF	chr17:16395629-16395718	GM13976	blood:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
23	CTCF	chr17:16395780-16395930	HCM	heart:	n/a	n/a
24	CTCF	chr17:16395640-16395790	HCPEpiC	choroid plexus:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
25	CTCF	chr17:16395588-16395824	K562	blood:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
26	CTCF	chr17:16395640-16395790	GM12868	blood:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
27	CTCF	chr17:16395600-16395750	GM12871	blood:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
28	CTCF	chr17:16395633-16395768	GM19238	blood:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
29	CTCF	chr17:16395600-16395750	HUVEC	blood vessel:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
30	CTCF	chr17:16395658-16395746	GM19239	blood:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
31	CTCF	chr17:16396302-16396392	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr17:16395600-16395750	GM12867	blood:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
33	CTCF	chr17:16395539-16395892	H1-hESC	embryonic stem cell:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
34	CTCF	chr17:16395581-16395820	IMR90	lung:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
35	CTCF	chr17:16395640-16395790	HepG2	liver:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
36	CTCF	chr17:16395540-16395690	HCT-116	colon:	n/a	chr17:16395670-16395686 chr17:16395664-16395677 chr17:16395664-16395673
37	CTCF	chr17:16395620-16395770	HRPEpiC	eye:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
38	CTCF	chr17:16395664-16395743	GM19240	blood:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
39	CTCF	chr17:16395540-16395690	HAc	cerebellar:	n/a	chr17:16395670-16395686 chr17:16395664-16395677 chr17:16395664-16395673
40	CTCF	chr17:16395580-16395730	HA-sp	spinal cord:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
41	CTCF	chr17:16395580-16395730	AG09319	gingival:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
42	CTCF	chr17:16395576-16395783	HepG2	liver:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
43	CTCF	chr17:16395600-16395750	HepG2	liver:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
44	CTCF	chr17:16395643-16395755	GM12892	blood:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
45	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
46	CTCF	chr17:16394840-16394990	Caco-2	colon:	n/a	chr17:16394900-16394913
47	CTCF	chr17:16395610-16395762	Pancreas_OC	pancreas:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
48	CTCF	chr17:16395560-16395710	NHEK	skin:	n/a	chr17:16395670-16395686 chr17:16395664-16395677 chr17:16395664-16395673
49	CTCF	chr17:16395600-16395750	HBMEC	blood vessel:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
50	CTCF	chr17:16395685-16395705	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:16395991-16396041	HCT-116	colon:	n/a
2	chr17:16394899-16394949	ECC-1	luminal epithelium:	n/a
3	chr17:16395991-16396041	HCT-116	colon:	n/a
4	chr17:16394899-16394949	ECC-1	luminal epithelium:	n/a
5	chr17:16395644-16395694	SAEC	small airway:	n/a
6	chr17:16395099-16395149	HEK293	kidney:	embryo
7	chr17:16395099-16395149	LNCaP	prostate:	n/a
8	chr17:16395449-16395499	GM19239	blood:	n/a
9	chr17:16394618-16394668	HCF	heart:	n/a
10	chr17:16395957-16396007	MCF10A-Er-Src	breast:	n/a
11	chr17:16395644-16395694	NH-A	brain:	n/a
12	chr17:16394618-16394668	NT2-D1	testis:	n/a
13	chr17:16395957-16396007	ECC-1	luminal epithelium:	n/a
14	chr17:16394899-16394949	HMEC	breast:	n/a
15	chr17:16396497-16396547	PFSK-1	brain:	n/a
16	chr17:16394618-16394668	CMK	blood:	n/a
17	chr17:16395449-16395499	T-47D	breast:	n/a
18	chr17:16394899-16394949	ovcar-3	ovarian:	n/a
19	chr17:16394618-16394668	HMEC	breast:	n/a
20	chr17:16395644-16395694	NHBE	bronchial:	n/a
21	chr17:16394899-16394949	NHBE	bronchial:	n/a
22	chr17:16395099-16395149	HUVEC	blood vessel:	n/a
23	chr17:16395099-16395149	H1-hESC	embryonic stem cell:	embryo
24	chr17:16394677-16394727	PANC-1	pancreas:	n/a
25	chr17:16395449-16395499	IMR90	lung:	fetal
26	chr17:16394618-16394668	NB4	blood:	n/a
27	chr17:16394899-16394949	LNCaP	prostate:	n/a
28	chr17:16395099-16395149	AG04450	lung:	fetal
29	chr17:16395991-16396041	PANC-1	pancreas:	n/a
30	chr17:16394899-16394949	Caco-2	colon:	n/a
31	chr17:16395449-16395499	AG04449	skin:	fetal
32	chr17:16394848-16394898	HRPEpiC	eye:	n/a
33	chr17:16395449-16395499	HRPEpiC	eye:	n/a
34	chr17:16396497-16396547	HRE	kidney:	n/a
35	chr17:16394899-16394949	HEK293	kidney:	embryo
36	chr17:16395644-16395694	BJ	skin:	n/a
37	chr17:16395449-16395499	K562	blood:	n/a
38	chr17:16395099-16395149	Jurkat	blood:	n/a
39	chr17:16395644-16395694	Hepatocyte	liver:	n/a
40	chr17:16395099-16395149	NB4	blood:	n/a
41	chr17:16394618-16394668	NHBE	bronchial:	n/a
42	chr17:16394899-16394949	HUVEC	blood vessel:	n/a
43	chr17:16395099-16395149	HMEC	breast:	n/a
44	chr17:16395644-16395694	NHDF-neo	bronchial:	n/a
45	chr17:16394677-16394727	PFSK-1	brain:	n/a
46	chr17:16394677-16394727	SK-N-SH	brain:	n/a
47	chr17:16395644-16395694	HCF	heart:	n/a
48	chr17:16394899-16394949	MCF10A-Er-Src	breast:	n/a
49	chr17:16394677-16394727	ECC-1	luminal epithelium:	n/a
50	chr17:16394899-16394949	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:16368821..16370735-chr17:16395780..16397972,2	K562	blood:
2	chr17:16385737..16387459-chr17:16392390..16394414,2	MCF-7	breast:
3	chr17:16340606..16343390-chr17:16393092..16395708,2	MCF-7	breast:
4	chr17:16116365..16119285-chr17:16395133..16397532,2	K562	blood:

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

Extended variants
information (count: 83 )
Associated
traits (count: 158 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530375015	chr17:16394252-16394253	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs544076220	chr17:16394292-16394293	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs567570830	chr17:16394331-16394332	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs530237695	chr17:16394367-16394368	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs532759511	chr17:16394430-16394431	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs76143941	chr17:16394455-16394456	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs145204474	chr17:16394460-16394461	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs189154491	chr17:16394493-16394494	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs199598493	chr17:16394525-16394526	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs373171886	chr17:16394530-16394531	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs548223335	chr17:16394535-16394536	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs568090135	chr17:16394540-16394541	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs78466931	chr17:16394562-16394563	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs367877966	chr17:16394577-16394578	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs556435702	chr17:16394587-16394588	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs569823600	chr17:16394620-16394621	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs538830905	chr17:16394624-16394625	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs558744929	chr17:16394673-16394674	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs572214439	chr17:16394696-16394697	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs77128838	chr17:16394701-16394702	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs150641721	chr17:16394706-16394707	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs574360956	chr17:16394750-16394751	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs566718715	chr17:16394765-16394766	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs543020619	chr17:16394823-16394824	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs564008230	chr17:16394834-16394835	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs78581909	chr17:16394835-16394836	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs546026761	chr17:16394837-16394838	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs559516840	chr17:16394862-16394863	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs192271051	chr17:16394863-16394864	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs548261512	chr17:16394887-16394888	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs370732904	chr17:16394944-16394945	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs562005963	chr17:16394969-16394970	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs574357045	chr17:16394995-16394996	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs375480642	chr17:16395001-16395002	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs368307828	chr17:16395032-16395033	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs550653732	chr17:16395117-16395118	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs569944240	chr17:16395134-16395135	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs538927430	chr17:16395194-16395195	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs552449211	chr17:16395238-16395239	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs113989349	chr17:16395337-16395338	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs565860556	chr17:16395512-16395513	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs534746682	chr17:16395577-16395578	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs554723238	chr17:16395589-16395590	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs574400682	chr17:16395617-16395618	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs537057637	chr17:16395623-16395624	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs556671795	chr17:16395642-16395643	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs577510806	chr17:16395680-16395681	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs546065582	chr17:16395753-16395754	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs559553825	chr17:16395754-16395755	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs573116875	chr17:16395765-16395766	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:158)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:449 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16390400-16394400	Weak transcription	Liver	Liver
2	chr17:16390400-16394400	Enhancers	Brain Cingulate Gyrus	brain
3	chr17:16390600-16394400	Weak transcription	Lung	lung
4	chr17:16390600-16394600	Weak transcription	Left Ventricle	heart
5	chr17:16390600-16394800	Weak transcription	Psoas Muscle	Psoas
6	chr17:16391800-16394400	Weak transcription	Small Intestine	intestine
7	chr17:16392000-16394600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr17:16392200-16394600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
9	chr17:16392200-16394600	Weak transcription	Fetal Kidney	kidney
10	chr17:16392200-16395000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr17:16392400-16394400	Enhancers	Spleen	Spleen
12	chr17:16392400-16394600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr17:16393400-16394400	Flanking Active TSS	Fetal Intestine Large	intestine
14	chr17:16393400-16394600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr17:16393600-16394400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr17:16393600-16394400	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr17:16393600-16394600	Flanking Active TSS	Fetal Brain Female	brain
18	chr17:16393800-16394400	Enhancers	Primary hematopoietic stem cells	blood
19	chr17:16393800-16394400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr17:16393800-16394400	Enhancers	Right Atrium	heart
21	chr17:16393800-16394600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr17:16393800-16394800	Enhancers	Fetal Heart	heart
23	chr17:16393800-16394800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr17:16394000-16394400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr17:16394000-16394400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr17:16394000-16394400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr17:16394000-16394400	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr17:16394000-16394400	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr17:16394000-16394400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr17:16394000-16394400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
31	chr17:16394000-16394600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
32	chr17:16394000-16394600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
33	chr17:16394000-16394600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr17:16394000-16394800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
35	chr17:16394000-16394800	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr17:16394000-16395000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr17:16394000-16395000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
38	chr17:16394000-16396200	Active TSS	H9 Cell Line	embryonic stem cell
39	chr17:16394200-16394400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr17:16394200-16394400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr17:16394200-16394400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr17:16394200-16394400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr17:16394200-16394400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
44	chr17:16394200-16394400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr17:16394200-16394400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr17:16394200-16394400	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr17:16394200-16394400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
48	chr17:16394200-16394400	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr17:16394200-16394400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr17:16394200-16394400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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