Variant report

Variant	esv3439095
Chromosome Location	chr17:17685252-17688100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:436)
CpG islands
(count:489)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:436 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr17:17686076-17686331	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr17:17686839-17687418	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr17:17685558-17685758	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCLAF1	chr17:17687081-17687525	GM12878	blood:	n/a	chr17:17687089-17687102 chr17:17687094-17687103
5	BHLHE40	chr17:17685573-17685925	GM12878	blood:	n/a	n/a
6	CCNT2	chr17:17685503-17685574	K562	blood:	n/a	n/a
7	CCNT2	chr17:17686493-17686719	K562	blood:	n/a	n/a
8	CEBPB	chr17:17687241-17687262	K562	blood:	n/a	n/a
9	CEBPB	chr17:17686742-17686890	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPD	chr17:17686387-17686808	HepG2	liver:	n/a	n/a
11	CHD1	chr17:17686769-17686867	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr17:17686664-17686805	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr17:17685417-17685644	GM12878	blood:	n/a	n/a
14	CHD2	chr17:17686178-17686210	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTBP2	chr17:17684304-17685583	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTBP2	chr17:17686048-17688034	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr17:17686220-17686370	GM12874	blood:	n/a	n/a
18	CTCF	chr17:17686354-17686577	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr17:17686440-17686590	RPTEC	kidney:	n/a	n/a
20	CTCF	chr17:17686740-17686890	GM12871	blood:	n/a	chr17:17686800-17686813
21	CTCF	chr17:17686411-17686583	LNCaP	prostate:	n/a	n/a
22	CTCF	chr17:17686440-17686590	GM12875	blood:	n/a	n/a
23	CTCF	chr17:17686286-17686768	K562	blood:	n/a	n/a
24	CTCF	chr17:17687600-17687750	HBMEC	blood vessel:	n/a	n/a
25	CTCF	chr17:17686400-17686550	HMEC	breast:	n/a	n/a
26	CTCF	chr17:17686440-17686590	GM12866	blood:	n/a	n/a
27	CTCF	chr17:17686369-17686618	NHEK	skin:	n/a	n/a
28	CTCF	chr17:17686357-17686939	GM12892	blood:	n/a	chr17:17686800-17686813
29	CTCF	chr17:17688000-17688150	GM12873	blood:	n/a	n/a
30	CTCF	chr17:17686420-17686570	GM12873	blood:	n/a	n/a
31	CTCF	chr17:17686380-17686530	AG09309	skin:	n/a	n/a
32	CTCF	chr17:17686380-17686530	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr17:17686420-17686570	GM12874	blood:	n/a	n/a
34	CTCF	chr17:17686460-17686610	HepG2	liver:	n/a	n/a
35	CTCF	chr17:17686460-17686610	BJ	skin:	n/a	n/a
36	CTCF	chr17:17686427-17686559	MCF-7	breast:	n/a	n/a
37	CTCF	chr17:17686366-17686601	IMR90	lung:	n/a	n/a
38	CTCF	chr17:17686400-17686550	GM12867	blood:	n/a	n/a
39	CTCF	chr17:17686460-17686610	HRPEpiC	eye:	n/a	n/a
40	CTCF	chr17:17686660-17686810	GM12868	blood:	n/a	n/a
41	CTCF	chr17:17686460-17686610	GM12865	blood:	n/a	n/a
42	CTCF	chr17:17686440-17686590	NHLF	lung:	n/a	n/a
43	CTCF	chr17:17686420-17686570	BE2_C	brain:	n/a	n/a
44	CTCF	chr17:17686140-17686290	GM12873	blood:	n/a	n/a
45	CTCF	chr17:17686460-17686610	GM12875	blood:	n/a	n/a
46	CTCF	chr17:17686460-17686610	GM12873	blood:	n/a	n/a
47	CTCF	chr17:17686654-17686657	Spleen_OC	spleen:	n/a	n/a
48	CTCF	chr17:17686400-17686550	AG04449	skin:	n/a	n/a
49	CTCF	chr17:17687920-17688070	GM12874	blood:	n/a	n/a
50	CTCF	chr17:17686400-17686550	GM12871	blood:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:17687834-17687884	HCT-116	colon:	n/a
2	chr17:17687834-17687884	HCT-116	colon:	n/a
3	chr17:17687621-17687671	HUVEC	blood vessel:	n/a
4	chr17:17687422-17687472	MCF-7	breast:	n/a
5	chr17:17686332-17686382	NT2-D1	testis:	n/a
6	chr17:17687422-17687472	GM12892	blood:	n/a
7	chr17:17686332-17686382	ovcar-3	ovarian:	n/a
8	chr17:17687621-17687671	HCT-116	colon:	n/a
9	chr17:17687621-17687671	AG09309	skin:	n/a
10	chr17:17687621-17687671	GM12891	blood:	n/a
11	chr17:17687239-17687289	SKMC	muscle:	n/a
12	chr17:17686332-17686382	AG04449	skin:	fetal
13	chr17:17687834-17687884	BJ	skin:	n/a
14	chr17:17685407-17685457	MCF10A-Er-Src	breast:	n/a
15	chr17:17687621-17687671	MCF-7	breast:	n/a
16	chr17:17685582-17685632	GM12878	blood:	n/a
17	chr17:17686332-17686382	RPTEC	kidney:	n/a
18	chr17:17687422-17687472	HMEC	breast:	n/a
19	chr17:17686332-17686382	K562	blood:	n/a
20	chr17:17685407-17685457	U87	brain:	n/a
21	chr17:17687422-17687472	HEK293	kidney:	embryo
22	chr17:17686141-17686191	HMEC	breast:	n/a
23	chr17:17685407-17685457	LNCaP	prostate:	n/a
24	chr17:17685582-17685632	BJ	skin:	n/a
25	chr17:17687621-17687671	A549	lung:	n/a
26	chr17:17686332-17686382	SK-N-SH	brain:	n/a
27	chr17:17685582-17685632	SK-N-MC	brain:	n/a
28	chr17:17685582-17685632	AG10803	skin:	n/a
29	chr17:17685407-17685457	SK-N-SH	brain:	n/a
30	chr17:17686141-17686191	HCF	heart:	n/a
31	chr17:17686332-17686382	PrEC	prostate:	n/a
32	chr17:17686332-17686382	NHDF-neo	bronchial:	n/a
33	chr17:17685582-17685632	ProgFib	skin:	n/a
34	chr17:17687834-17687884	PrEC	prostate:	n/a
35	chr17:17687834-17687884	MCF10A-Er-Src	breast:	n/a
36	chr17:17687834-17687884	HCPEpiC	choroid plexus:	n/a
37	chr17:17685582-17685632	GM12892	blood:	n/a
38	chr17:17687621-17687671	NT2-D1	testis:	n/a
39	chr17:17686332-17686382	HEEpiC	esophagus:	n/a
40	chr17:17686332-17686382	GM12892	blood:	n/a
41	chr17:17685582-17685632	HRPEpiC	eye:	n/a
42	chr17:17685407-17685457	HCM	heart:	n/a
43	chr17:17686332-17686382	HL-60	blood:	n/a
44	chr17:17687239-17687289	ECC-1	luminal epithelium:	n/a
45	chr17:17687834-17687884	NHBE	bronchial:	n/a
46	chr17:17685582-17685632	LNCaP	prostate:	n/a
47	chr17:17687422-17687472	BJ	skin:	n/a
48	chr17:17685582-17685632	HCT-116	colon:	n/a
49	chr17:17687621-17687671	HL-60	blood:	n/a
50	chr17:17687422-17687472	SK-N-MC	brain:	n/a

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17686202..17687048-chr17:17718326..17718902,2	MCF-7	breast:
2	chr17:17686081..17687652-chrX:48392038..48393539,2	K562	blood:
3	chr17:17686873..17689808-chr17:17705092..17707202,2	MCF-7	breast:
4	chr17:17654471..17656540-chr17:17686884..17689253,2	K562	blood:
5	chr17:17683965..17687759-chr17:17739269..17741858,4	K562	blood:
6	chr17:17581707..17587972-chr17:17684185..17691006,14	MCF-7	breast:
7	chr17:17680425..17682951-chr17:17684524..17687112,3	K562	blood:
8	chr17:17688045..17689848-chr17:17739123..17741453,2	K562	blood:
9	chr17:17583171..17587600-chr17:17683205..17687633,5	MCF-7	breast:
10	chr17:17685392..17687636-chr17:17695212..17698181,2	MCF-7	breast:
11	chr17:17685362..17690405-chr17:17711256..17718354,8	MCF-7	breast:
12	chr17:17685908..17688638-chr17:17739625..17744756,9	MCF-7	breast:
13	chr17:17685134..17688509-chr17:17722863..17726624,4	MCF-7	breast:
14	chr17:17685438..17688763-chr17:17737889..17741903,5	K562	blood:
15	chr17:17596273..17597839-chr17:17685487..17687747,2	MCF-7	breast:
16	chr17:17658357..17659243-chr17:17686198..17687096,5	MCF-7	breast:
17	chr17:17584528..17586896-chr17:17687995..17691215,4	MCF-7	breast:
18	chr17:17623385..17625295-chr17:17685917..17688281,2	MCF-7	breast:
19	chr10:121484591..121485327-chr17:17686116..17687101,2	NB4	blood:
20	chr17:17673495..17677565-chr17:17684022..17690653,6	MCF-7	breast:
21	chr17:17686748..17688338-chr17:17699379..17701394,2	MCF-7	breast:
22	chr17:17583782..17586496-chr17:17685897..17688578,2	K562	blood:
23	chr17:17664602..17666200-chr17:17686548..17688309,2	MCF-7	breast:
24	chr17:17681173..17684236-chr17:17685903..17687654,3	MCF-7	breast:
25	chr17:17679491..17683222-chr17:17686874..17689759,4	MCF-7	breast:
26	chr17:17685589..17688430-chr17:17722427..17724500,2	MCF-7	breast:
27	chr17:17641322..17643141-chr17:17683351..17685398,2	K562	blood:
28	chr17:17658357..17659324-chr17:17686198..17687096,5	MCF-7	breast:

No data

Variant related genes	Relation type
SMCR5	TF binding region
RAI1	TF binding region
SMCR5	CpG island
RAI1	CpG island
ENSG00000237328	chromatin interactions
ENSG00000108557	chromatin interactions
ENSG00000226746	chromatin interactions
ENSG00000207839	chromatin interactions
ENSG00000072310	chromatin interactions
ENSG00000264167	chromatin interactions

Extended variants
information (count: 107 )
Associated
traits (count: 161 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564804274	chr17:17685262-17685263	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs577788516	chr17:17685503-17685504	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs540443762	chr17:17685554-17685555	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs573901095	chr17:17685634-17685635	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs528984148	chr17:17685644-17685645	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs548962982	chr17:17685650-17685651	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs562387910	chr17:17685716-17685717	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs530697361	chr17:17685846-17685847	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs531348943	chr17:17685971-17685972	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs12940418	chr17:17686052-17686053	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs372132746	chr17:17686054-17686055	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs571531330	chr17:17686077-17686078	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs533958034	chr17:17686081-17686082	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs538107930	chr17:17686230-17686231	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs547638694	chr17:17686273-17686274	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs556166307	chr17:17686291-17686292	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs566966633	chr17:17686317-17686318	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs535993044	chr17:17686334-17686335	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs199515029	chr17:17686341-17686342	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs398100450	chr17:17686342-17686343	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs555839441	chr17:17686354-17686355	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs7502200	chr17:17686355-17686356	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs373577992	chr17:17686385-17686386	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs539319173	chr17:17686386-17686387	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs144240699	chr17:17686389-17686390	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs200468484	chr17:17686399-17686400	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs67817795	chr17:17686401-17686402	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs6502617	chr17:17686402-17686403	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs11430043	chr17:17686432-17686433	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs33977507	chr17:17686433-17686434	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs368534542	chr17:17686498-17686499	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs7405940	chr17:17686521-17686522	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs577951899	chr17:17686566-17686567	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs184667562	chr17:17686585-17686586	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs372296066	chr17:17686601-17686602	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs540406813	chr17:17686639-17686640	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs142074406	chr17:17686703-17686704	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs577893647	chr17:17686769-17686770	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs573394476	chr17:17686779-17686780	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs542319275	chr17:17686790-17686791	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs374647025	chr17:17686792-17686793	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs531182490	chr17:17686802-17686803	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs369022791	chr17:17686805-17686806	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs140108004	chr17:17686813-17686814	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs34478793	chr17:17686827-17686828	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs35261054	chr17:17686829-17686830	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs565153078	chr17:17686855-17686856	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs527629943	chr17:17686856-17686857	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs547602864	chr17:17686866-17686867	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs567426690	chr17:17686899-17686900	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:161)

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
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
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
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	22543975	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:504 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17678200-17687600	Weak transcription	Hela-S3	cervix
2	chr17:17681000-17685600	Enhancers	Fetal Lung	lung
3	chr17:17681800-17685400	Enhancers	Fetal Heart	heart
4	chr17:17682200-17687200	Weak transcription	HSMMtube	muscle
5	chr17:17682800-17685400	Weak transcription	HSMM	muscle
6	chr17:17683000-17685400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr17:17683600-17685800	Enhancers	Fetal Brain Male	brain
8	chr17:17683600-17686200	Enhancers	Liver	Liver
9	chr17:17683800-17686000	Enhancers	Spleen	Spleen
10	chr17:17683800-17686200	Enhancers	GM12878-XiMat	blood
11	chr17:17684000-17685400	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr17:17684000-17685600	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr17:17684000-17685800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr17:17684000-17686200	Enhancers	Lung	lung
15	chr17:17684200-17685400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr17:17684200-17685600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
17	chr17:17684200-17685800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr17:17684200-17687600	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr17:17684200-17688000	Active TSS	H9 Cell Line	embryonic stem cell
20	chr17:17684200-17688000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr17:17684200-17688200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr17:17684400-17685400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr17:17684400-17685400	Enhancers	Primary B cells from cord blood	blood
24	chr17:17684400-17685400	Enhancers	Esophagus	oesophagus
25	chr17:17684400-17685400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr17:17684400-17686200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
27	chr17:17684400-17686800	Weak transcription	Fetal Kidney	kidney
28	chr17:17684400-17687200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr17:17684400-17687200	Flanking Active TSS	HMEC	breast
30	chr17:17684400-17688200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr17:17684600-17685400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr17:17684600-17685400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr17:17684600-17685400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr17:17684600-17685400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr17:17684600-17685400	Enhancers	Pancreas	Pancrea
36	chr17:17684600-17685400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
37	chr17:17684600-17685600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr17:17684600-17686200	Bivalent Enhancer	Stomach Mucosa	stomach
39	chr17:17684600-17687800	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr17:17684800-17685400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr17:17684800-17685400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
42	chr17:17684800-17685400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
43	chr17:17684800-17685400	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr17:17684800-17685400	Flanking Active TSS	Fetal Stomach	stomach
45	chr17:17684800-17685800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr17:17684800-17686200	Weak transcription	K562	blood
47	chr17:17684800-17687400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr17:17684800-17687400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr17:17684800-17687600	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr17:17684800-17687600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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