Variant report

Variant	nsv574494
Chromosome Location	chr17:16395083-16398555
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	chr17:16395863-16395945	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr17:16396459-16396647	K562	blood:	n/a	chr17:16396510-16396523
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	chr17:16395576-16395783	HepG2	liver:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
10	CTCF	chr17:16395620-16395770	HRPEpiC	eye:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
11	CTCF	chr17:16395560-16395710	GM12869	blood:	n/a	chr17:16395670-16395686 chr17:16395664-16395677 chr17:16395664-16395673
12	CTCF	chr17:16395658-16395746	GM19239	blood:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
13	CTCF	chr17:16395639-16395696	Lung_OC	lung:	n/a	chr17:16395670-16395686 chr17:16395664-16395677 chr17:16395664-16395673
14	CTCF	chr17:16395550-16395906	HepG2	liver:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
15	CTCF	chr17:16395615-16395757	GM10266	blood:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
16	CTCF	chr17:16395600-16395750	HUVEC	blood vessel:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
17	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
18	CTCF	chr17:16395548-16395957	K562	blood:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
19	CTCF	chr17:16395600-16395750	HBMEC	blood vessel:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
20	CTCF	chr17:16395624-16395710	GM13977	blood:	n/a	chr17:16395670-16395686 chr17:16395664-16395677 chr17:16395664-16395673
21	CTCF	chr17:16395620-16395770	AG09319	gingival:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
22	CTCF	chr17:16395685-16395705	MCF-7	breast:	n/a	n/a
23	CTCF	chr17:16395640-16395790	HepG2	liver:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
24	CTCF	chr17:16395600-16395750	GM12873	blood:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
25	CTCF	chr17:16395600-16395750	GM12871	blood:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
26	CTCF	chr17:16395685-16395695	Medullo	brain:	n/a	n/a
27	CTCF	chr17:16395600-16395750	Caco-2	colon:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
28	CTCF	chr17:16395640-16395770	MCF-7	breast:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
29	CTCF	chr17:16395610-16395762	Pancreas_OC	pancreas:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
30	CTCF	chr17:16396302-16396392	H1-hESC	embryonic stem cell:	n/a	n/a
31	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
32	CTCF	chr17:16395549-16395842	K562	blood:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
33	CTCF	chr17:16395580-16395730	HCM	heart:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
34	CTCF	chr17:16395620-16395770	Caco-2	colon:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
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	chr17:16395629-16395718	GM13976	blood:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
37	CTCF	chr17:16395664-16395743	GM19240	blood:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
38	CTCF	chr17:16395600-16395750	NHDF-neo	bronchial:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
39	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
40	CTCF	chr17:16395600-16395750	GM12867	blood:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
41	CTCF	chr17:16395520-16395770	NHDF-neo	bronchial:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
42	CTCF	chr17:16395581-16395820	IMR90	lung:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
43	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
44	CTCF	chr17:16395660-16395810	MCF-7	breast:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
45	CTCF	chr17:16395540-16395690	HAc	cerebellar:	n/a	chr17:16395670-16395686 chr17:16395664-16395677 chr17:16395664-16395673
46	CTCF	chr17:16395662-16395753	Kidney_OC	kidney:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
47	CTCF	chr17:16395590-16395786	Spleen_OC	spleen:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
48	CTCF	chr17:16395568-16395828	H1-hESC	embryonic stem cell:	n/a	chr17:16395701-16395714 chr17:16395670-16395686 chr17:16395704-16395717 chr17:16395664-16395677 chr17:16395664-16395673
49	CTCF	chr17:16395540-16395690	HCT-116	colon:	n/a	chr17:16395670-16395686 chr17:16395664-16395677 chr17:16395664-16395673
50	CTCF	chr17:16395660-16395784	GM12891	blood:	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	chr17:16397992-16398042	HAEpiC	amniotic membrane:	n/a
2	chr17:16397992-16398042	HAEpiC	amniotic membrane:	n/a
3	chr17:16396497-16396547	HAEpiC	amniotic membrane:	n/a
4	chr17:16397992-16398042	AG10803	skin:	n/a
5	chr17:16395449-16395499	ECC-1	luminal epithelium:	n/a
6	chr17:16396497-16396547	Hela-S3	cervix:	n/a
7	chr17:16396497-16396547	SAEC	small airway:	n/a
8	chr17:16395957-16396007	GM12878	blood:	n/a
9	chr17:16396497-16396547	AG10803	skin:	n/a
10	chr17:16397992-16398042	AG04449	skin:	fetal
11	chr17:16395449-16395499	HCF	heart:	n/a
12	chr17:16396497-16396547	AG04449	skin:	fetal
13	chr17:16395644-16395694	HL-60	blood:	n/a
14	chr17:16395644-16395694	HCM	heart:	n/a
15	chr17:16395991-16396041	GM19239	blood:	n/a
16	chr17:16395644-16395694	AG04450	lung:	fetal
17	chr17:16395099-16395149	PrEC	prostate:	n/a
18	chr17:16395644-16395694	SK-N-SH	brain:	n/a
19	chr17:16397992-16398042	SK-N-MC	brain:	n/a
20	chr17:16397992-16398042	ECC-1	luminal epithelium:	n/a
21	chr17:16395099-16395149	SKMC	muscle:	n/a
22	chr17:16395957-16396007	HNPCEpiC	eye:	n/a
23	chr17:16395449-16395499	HIPEpiC	eye:	n/a
24	chr17:16397992-16398042	HCT-116	colon:	n/a
25	chr17:16395099-16395149	Caco-2	colon:	n/a
26	chr17:16397992-16398042	AoSMC	blood vessel:	n/a
27	chr17:16395991-16396041	HIPEpiC	eye:	n/a
28	chr17:16397992-16398042	HRPEpiC	eye:	n/a
29	chr17:16395099-16395149	Hela-S3	cervix:	n/a
30	chr17:16395449-16395499	SAEC	small airway:	n/a
31	chr17:16395099-16395149	Hepatocyte	liver:	n/a
32	chr17:16395991-16396041	GM12892	blood:	n/a
33	chr17:16397992-16398042	BJ	skin:	n/a
34	chr17:16395957-16396007	NHBE	bronchial:	n/a
35	chr17:16395644-16395694	Hela-S3	cervix:	n/a
36	chr17:16395099-16395149	IMR90	lung:	fetal
37	chr17:16395991-16396041	PFSK-1	brain:	n/a
38	chr17:16395957-16396007	CMK	blood:	n/a
39	chr17:16396497-16396547	NT2-D1	testis:	n/a
40	chr17:16395957-16396007	BJ	skin:	n/a
41	chr17:16395644-16395694	BJ	skin:	n/a
42	chr17:16395957-16396007	AG09309	skin:	n/a
43	chr17:16395644-16395694	H1-hESC	embryonic stem cell:	embryo
44	chr17:16396497-16396547	ProgFib	skin:	n/a
45	chr17:16395644-16395694	Hepatocyte	liver:	n/a
46	chr17:16395991-16396041	HPAEpiC	pulmonary alveolar:	n/a
47	chr17:16397992-16398042	HepG2	liver:	n/a
48	chr17:16395449-16395499	GM12892	blood:	n/a
49	chr17:16396497-16396547	AG09319	gingival:	n/a
50	chr17:16395449-16395499	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:16116365..16119285-chr17:16395133..16397532,2	K562	blood:
2	chr17:16398082..16399739-chr17:16404081..16405676,2	K562	blood:
3	chr17:16397615..16399845-chr17:16408888..16410654,2	K562	blood:
4	chr17:16368821..16370735-chr17:16395780..16397972,2	K562	blood:
5	chr17:16340606..16343390-chr17:16393092..16395708,2	MCF-7	breast:

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

Extended variants
information (count: 101 )
Associated
traits (count: 158 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	rs118095564	chr17:16395801-16395802	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs115237542	chr17:16395808-16395809	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs9916648	chr17:16395937-16395938	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs60357719	chr17:16395946-16395947	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs550995218	chr17:16395954-16395955	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs1007259	chr17:16395979-16395980	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs7342950	chr17:16395997-16395998	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs139733170	chr17:16396017-16396018	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs552487849	chr17:16396087-16396088	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs79657574	chr17:16396088-16396089	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs34410887	chr17:16396110-16396111	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs35281662	chr17:16396138-16396139	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs371808959	chr17:16396139-16396140	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs202171040	chr17:16396143-16396144	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs76836925	chr17:16396183-16396184	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs553232743	chr17:16396186-16396187	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs568186088	chr17:16396199-16396200	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs536742216	chr17:16396248-16396249	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs368916971	chr17:16396303-16396304	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs556944226	chr17:16396331-16396332	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs576746755	chr17:16396341-16396342	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs8079803	chr17:16396387-16396388	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs553272644	chr17:16396456-16396457	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs573154090	chr17:16396465-16396466	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs139773188	chr17:16396481-16396482	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs184684869	chr17:16396497-16396498	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs371496208	chr17:16396538-16396539	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs76526780	chr17:16396566-16396567	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs144487163	chr17:16396569-16396570	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs572938431	chr17:16396624-16396625	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs75804206	chr17:16396662-16396663	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs566643991	chr17:16396682-16396683	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs544359104	chr17:16396713-16396714	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs564541811	chr17:16396823-16396824	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs59062761	chr17:16396855-16396856	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:270 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16394000-16396200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr17:16394200-16396000	Active TSS	Primary T cells from cord blood	blood
3	chr17:16394400-16395200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
4	chr17:16394400-16395200	Bivalent/Poised TSS	NHDF-Ad	bronchial
5	chr17:16394400-16395600	Enhancers	Liver	Liver
6	chr17:16394400-16395800	Active TSS	Fetal Intestine Large	intestine
7	chr17:16394400-16395800	Active TSS	Small Intestine	intestine
8	chr17:16394400-16396000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr17:16394400-16396000	Bivalent/Poised TSS	NHLF	lung
10	chr17:16394600-16395200	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr17:16394600-16395800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr17:16394600-16395800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr17:16394600-16395800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
14	chr17:16394600-16395800	Active TSS	Aorta	Aorta
15	chr17:16394600-16395800	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr17:16394600-16395800	Active TSS	Sigmoid Colon	Sigmoid Colon
17	chr17:16394600-16396000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr17:16394600-16396000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:16394600-16396000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr17:16394600-16396000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr17:16394600-16396000	Active TSS	Brain Cingulate Gyrus	brain
22	chr17:16394600-16396200	Bivalent/Poised TSS	HepG2	liver
23	chr17:16394800-16395200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr17:16394800-16395200	Enhancers	Fetal Brain Male	brain
25	chr17:16394800-16395200	Flanking Active TSS	Left Ventricle	heart
26	chr17:16394800-16395200	Flanking Active TSS	Lung	lung
27	chr17:16394800-16395600	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr17:16394800-16395600	Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr17:16394800-16395600	Active TSS	Right Ventricle	heart
30	chr17:16394800-16395800	Active TSS	H1 Cell Line	embryonic stem cell
31	chr17:16394800-16395800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr17:16394800-16395800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr17:16394800-16395800	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr17:16394800-16395800	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr17:16394800-16395800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr17:16394800-16395800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr17:16394800-16395800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr17:16394800-16395800	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr17:16394800-16395800	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr17:16394800-16395800	Active TSS	Esophagus	oesophagus
41	chr17:16394800-16395800	Weak transcription	Fetal Heart	heart
42	chr17:16394800-16395800	Active TSS	Fetal Intestine Small	intestine
43	chr17:16394800-16395800	Active TSS	Pancreas	Pancrea
44	chr17:16394800-16395800	Active TSS	Psoas Muscle	Psoas
45	chr17:16394800-16395800	Bivalent/Poised TSS	Thymus	Thymus
46	chr17:16394800-16395800	Active TSS	NH-A	brain
47	chr17:16394800-16396000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr17:16394800-16396000	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr17:16394800-16396000	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr17:16394800-16396000	Active TSS	iPS-18 Cell Line	embryonic stem cell

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