Variant report

Variant	esv3324366
Chromosome Location	chr17:17107227-17112025
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:620)
CpG islands
(count:978)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:620 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr17:17109048-17109990	GM12878	blood:	n/a	n/a
2	ATF2	chr17:17109595-17109833	GM12878	blood:	n/a	n/a
3	ATF3	chr17:17109559-17109944	GM12878	blood:	n/a	chr17:17109674-17109694
4	ATF3	chr17:17109523-17110033	K562	blood:	n/a	chr17:17109998-17110007 chr17:17109674-17109694
5	ATF3	chr17:17109543-17110013	HepG2	liver:	n/a	chr17:17109998-17110007 chr17:17109674-17109694
6	ATF3	chr17:17109550-17110079	GM12878	blood:	n/a	chr17:17109998-17110007 chr17:17109674-17109694
7	BACH1	chr17:17109744-17109967	K562	blood:	n/a	n/a
8	BCL3	chr17:17108902-17110512	A549	lung:	n/a	chr17:17109629-17109642
9	BCLAF1	chr17:17109077-17109998	GM12878	blood:	n/a	chr17:17109629-17109642
10	BCLAF1	chr17:17108581-17109037	GM12878	blood:	n/a	n/a
11	BCLAF1	chr17:17109215-17110059	GM12878	blood:	n/a	chr17:17109629-17109642
12	BHLHE40	chr17:17108195-17110407	GM12878	blood:	n/a	chr17:17109634-17109650 chr17:17108672-17108688 chr17:17108804-17108820
13	BHLHE40	chr17:17108755-17110401	HepG2	liver:	n/a	chr17:17109634-17109650 chr17:17108804-17108820
14	BHLHE40	chr17:17109524-17110075	A549	lung:	n/a	chr17:17109634-17109650
15	BHLHE40	chr17:17109576-17109986	HepG2	liver:	n/a	chr17:17109634-17109650
16	BHLHE40	chr17:17108050-17110431	K562	blood:	n/a	chr17:17109634-17109650 chr17:17108672-17108688 chr17:17108804-17108820
17	BHLHE40	chr17:17109491-17109970	HepG2	liver:	n/a	chr17:17109634-17109650
18	BRCA1	chr17:17109569-17109866	HepG2	liver:	n/a	n/a
19	BRCA1	chr17:17109518-17109537	GM12878	blood:	n/a	n/a
20	BRCA1	chr17:17109614-17109977	Hela-S3	cervix:	n/a	n/a
21	CBX3	chr17:17109412-17110278	K562	blood:	n/a	n/a
22	CBX3	chr17:17109651-17109955	K562	blood:	n/a	n/a
23	CCNT2	chr17:17109106-17110293	K562	blood:	n/a	chr17:17109654-17109663 chr17:17110004-17110013
24	CCNT2	chr17:17108492-17108902	K562	blood:	n/a	chr17:17108531-17108540
25	CEBPB	chr17:17109598-17109968	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr17:17108656-17109421	GM12878	blood:	n/a	n/a
27	CHD1	chr17:17108528-17109047	GM12878	blood:	n/a	n/a
28	CHD1	chr17:17109351-17109792	GM12878	blood:	n/a	n/a
29	CHD2	chr17:17109294-17110310	Hela-S3	cervix:	n/a	n/a
30	CHD2	chr17:17109212-17109921	HepG2	liver:	n/a	n/a
31	CHD2	chr17:17109474-17110020	GM12878	blood:	n/a	n/a
32	CHD2	chr17:17108950-17108963	HepG2	liver:	n/a	n/a
33	CHD2	chr17:17109683-17110017	K562	blood:	n/a	n/a
34	CHD2	chr17:17110225-17110373	HepG2	liver:	n/a	n/a
35	CHD2	chr17:17108732-17108932	Hela-S3	cervix:	n/a	n/a
36	CHD2	chr17:17108661-17109064	GM12878	blood:	n/a	n/a
37	CREB1	chr17:17109322-17110296	A549	lung:	n/a	n/a
38	CREB1	chr17:17109594-17110102	ECC-1	luminal epithelium:	n/a	n/a
39	CREB1	chr17:17109591-17109962	A549	lung:	n/a	n/a
40	CREB1	chr17:17108530-17109135	A549	lung:	n/a	n/a
41	CREB1	chr17:17109482-17110142	K562	blood:	n/a	n/a
42	CREB1	chr17:17108563-17110584	HepG2	liver:	n/a	n/a
43	CREB1	chr17:17108568-17110204	GM12878	blood:	n/a	n/a
44	CTCF	chr17:17109260-17109410	NHEK	skin:	n/a	n/a
45	CTCF	chr17:17109693-17109944	GM19239	blood:	n/a	n/a
46	CTCF	chr17:17109474-17109523	GM19238	blood:	n/a	n/a
47	CTCF	chr17:17109200-17109350	GM12878	blood:	n/a	n/a
48	CTCF	chr17:17109500-17109650	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr17:17109293-17109376	MCF-7	breast:	n/a	n/a
50	CTCF	chr17:17109472-17109597	GM12891	blood:	n/a	n/a

(count:978 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:17109800-17109850	GM12878	blood:	n/a
2	chr17:17109570-17109620	U87	brain:	n/a
3	chr17:17109800-17109850	GM12878	blood:	n/a
4	chr17:17109570-17109620	U87	brain:	n/a
5	chr17:17109640-17109690	GM06990	blood:	n/a
6	chr17:17109570-17109620	GM12891	blood:	n/a
7	chr17:17109817-17109867	GM12891	blood:	n/a
8	chr17:17108846-17108896	AG04450	lung:	fetal
9	chr17:17109817-17109867	IMR90	lung:	fetal
10	chr17:17109800-17109850	H1-hESC	embryonic stem cell:	embryo
11	chr17:17109640-17109690	HNPCEpiC	eye:	n/a
12	chr17:17109239-17109289	Caco-2	colon:	n/a
13	chr17:17110180-17110230	PFSK-1	brain:	n/a
14	chr17:17109678-17109728	SAEC	small airway:	n/a
15	chr17:17109640-17109690	HCT-116	colon:	n/a
16	chr17:17109651-17109701	Jurkat	blood:	n/a
17	chr17:17109817-17109867	NH-A	brain:	n/a
18	chr17:17110120-17110170	HUVEC	blood vessel:	n/a
19	chr17:17109800-17109850	SK-N-MC	brain:	n/a
20	chr17:17110180-17110230	ECC-1	luminal epithelium:	n/a
21	chr17:17109817-17109867	HCT-116	colon:	n/a
22	chr17:17110295-17110345	AG09319	gingival:	n/a
23	chr17:17109570-17109620	Caco-2	colon:	n/a
24	chr17:17109691-17109741	ProgFib	skin:	n/a
25	chr17:17110120-17110170	NT2-D1	testis:	n/a
26	chr17:17109651-17109701	HepG2	liver:	n/a
27	chr17:17109936-17109986	GM12891	blood:	n/a
28	chr17:17109239-17109289	HCM	heart:	n/a
29	chr17:17109640-17109690	HCM	heart:	n/a
30	chr17:17109640-17109690	SK-N-MC	brain:	n/a
31	chr17:17109651-17109701	HNPCEpiC	eye:	n/a
32	chr17:17109740-17109790	HCT-116	colon:	n/a
33	chr17:17110353-17110403	HEEpiC	esophagus:	n/a
34	chr17:17110120-17110170	SAEC	small airway:	n/a
35	chr17:17110207-17110257	U87	brain:	n/a
36	chr17:17108846-17108896	HL-60	blood:	n/a
37	chr17:17109817-17109867	SKMC	muscle:	n/a
38	chr17:17109817-17109867	ovcar-3	ovarian:	n/a
39	chr17:17109691-17109741	Jurkat	blood:	n/a
40	chr17:17109740-17109790	HRCEpiC	kidney:	n/a
41	chr17:17108846-17108896	ProgFib	skin:	n/a
42	chr17:17109817-17109867	NT2-D1	testis:	n/a
43	chr17:17109640-17109690	SKMC	muscle:	n/a
44	chr17:17110180-17110230	NH-A	brain:	n/a
45	chr17:17110353-17110403	A549	lung:	n/a
46	chr17:17110207-17110257	LNCaP	prostate:	n/a
47	chr17:17109640-17109690	SK-N-SH_RA	brain:	n/a
48	chr17:17110120-17110170	IMR90	lung:	fetal
49	chr17:17109570-17109620	H1-hESC	embryonic stem cell:	embryo
50	chr17:17110207-17110257	Hepatocyte	liver:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17098202..17101244-chr17:17105252..17107774,3	MCF-7	breast:
2	chr17:16890452..16892957-chr17:17108135..17110227,2	MCF-7	breast:
3	chr17:17110096..17111994-chr17:17113370..17116331,3	MCF-7	breast:
4	chr17:17089234..17090798-chr17:17108550..17111029,2	MCF-7	breast:
5	chr17:17107449..17110459-chr17:17138885..17140924,4	K562	blood:
6	chr17:17107370..17109135-chr17:17133343..17134970,2	K562	blood:
7	chr17:16944536..16947207-chr17:17109103..17111480,2	MCF-7	breast:
8	chr17:17104294..17107636-chr17:17108280..17111234,4	MCF-7	breast:
9	chr17:17043821..17046160-chr17:17108071..17109890,2	MCF-7	breast:
10	chr17:17110808..17112526-chr17:17116774..17118716,2	MCF-7	breast:
11	chr17:17109583..17111343-chr17:17139423..17141092,2	MCF-7	breast:
12	chr17:17110359..17112429-chr17:17121294..17123559,2	MCF-7	breast:
13	chr17:17107449..17109941-chr17:17138935..17142587,4	MCF-7	breast:
14	chr17:16890905..16892638-chr17:17106431..17108184,2	K562	blood:
15	chr17:17111351..17113350-chr17:17137959..17140262,2	K562	blood:
16	chr17:17109423..17111075-chr17:17206335..17209184,2	K562	blood:
17	chr17:17107445..17110008-chr17:17138195..17140495,3	K562	blood:
18	chr17:17106584..17108304-chr17:17112310..17114870,2	K562	blood:
19	chr17:17103562..17107466-chr17:17107503..17109938,5	MCF-7	breast:
20	chr17:17083452..17086510-chr17:17107054..17109094,3	K562	blood:
21	chr17:17108079..17111792-chr17:17180254..17184300,4	K562	blood:
22	chr17:17109460..17111792-chr17:17182647..17184300,2	K562	blood:
23	chr16:31722921..31725637-chr17:17104707..17107535,2	MCF-7	breast:
24	chr17:17099063..17102775-chr17:17103264..17109484,6	K562	blood:
25	chr17:17075571..17077759-chr17:17108274..17110785,3	MCF-7	breast:

No data

Variant related genes	Relation type
PLD6	TF binding region
PLD6	CpG island
ENSG00000261731	chromatin interactions
ENSG00000264187	chromatin interactions
ENSG00000230969	chromatin interactions
ENSG00000179598	chromatin interactions
ENSG00000133030	chromatin interactions
ENSG00000197302	chromatin interactions
ENSG00000154803	chromatin interactions
ENSG00000205309	chromatin interactions
ENSG00000266498	chromatin interactions
ENSG00000141030	chromatin interactions

Extended variants
information (count: 215 )
Associated
traits (count: 161 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545189032	chr17:17107256-17107257	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs34652847	chr17:17107258-17107259	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs566032624	chr17:17107264-17107265	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs181554335	chr17:17107279-17107280	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs374344949	chr17:17107298-17107299	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs114489842	chr17:17107325-17107326	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs569110754	chr17:17107326-17107327	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs139179385	chr17:17107379-17107380	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs538020384	chr17:17107418-17107419	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs529331233	chr17:17107456-17107457	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs115156909	chr17:17107463-17107464	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs113325682	chr17:17107480-17107481	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs191337817	chr17:17107481-17107482	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs552019701	chr17:17107493-17107494	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs575003782	chr17:17107546-17107547	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs571839331	chr17:17107550-17107551	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs534368314	chr17:17107605-17107606	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs149958978	chr17:17107606-17107607	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs567851294	chr17:17107617-17107618	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs544438272	chr17:17107649-17107650	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs140070349	chr17:17107686-17107687	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs114029654	chr17:17107694-17107695	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs554182701	chr17:17107725-17107726	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs4985750	chr17:17107740-17107741	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs576094854	chr17:17107743-17107744	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs36079048	chr17:17107753-17107754	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs562820840	chr17:17107809-17107810	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs147231682	chr17:17107847-17107848	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs77519421	chr17:17107848-17107849	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs80068883	chr17:17107854-17107855	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
31	rs140289845	chr17:17107908-17107909	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs76950103	chr17:17107927-17107928	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs561907639	chr17:17108032-17108033	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs543018256	chr17:17108072-17108073	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs182752659	chr17:17108078-17108079	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs534833428	chr17:17108092-17108093	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs531853053	chr17:17108155-17108156	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs551931726	chr17:17108180-17108181	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs529800586	chr17:17108236-17108237	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs571753360	chr17:17108249-17108250	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs144238579	chr17:17108259-17108260	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs571618915	chr17:17108262-17108263	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs186102217	chr17:17108268-17108269	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs536503234	chr17:17108284-17108285	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs556138478	chr17:17108323-17108324	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs569579176	chr17:17108361-17108362	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs10594014	chr17:17108382-17108383	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs59446650	chr17:17108384-17108385	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs546375073	chr17:17108466-17108467	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs79302571	chr17:17108476-17108477	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 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
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
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	21509527	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:588 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17090200-17107400	Weak transcription	Small Intestine	intestine
2	chr17:17091800-17107600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr17:17093600-17107400	Weak transcription	Dnd41	blood
4	chr17:17093600-17108400	Weak transcription	Thymus	Thymus
5	chr17:17093800-17107400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr17:17093800-17107600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr17:17095200-17108400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr17:17095400-17108200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr17:17095600-17107400	Weak transcription	HMEC	breast
10	chr17:17095600-17107600	Weak transcription	Osteobl	bone
11	chr17:17096000-17107400	Weak transcription	Fetal Heart	heart
12	chr17:17096800-17107400	Weak transcription	Primary B cells from cord blood	blood
13	chr17:17100800-17107600	Weak transcription	NHDF-Ad	bronchial
14	chr17:17101200-17107800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr17:17102400-17107400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr17:17103600-17108200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr17:17104000-17107600	Strong transcription	Fetal Intestine Small	intestine
18	chr17:17104200-17107400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr17:17104200-17108800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr17:17104200-17110400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr17:17104400-17114000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:17104600-17108800	Enhancers	Left Ventricle	heart
23	chr17:17104800-17114000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr17:17105000-17107600	Weak transcription	Fetal Kidney	kidney
25	chr17:17105000-17116200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:17105600-17107400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr17:17105600-17107400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr17:17105600-17107600	Weak transcription	Fetal Lung	lung
29	chr17:17105600-17107600	Strong transcription	NHLF	lung
30	chr17:17105800-17107400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr17:17105800-17107600	Weak transcription	HSMM	muscle
32	chr17:17106000-17107400	Weak transcription	Esophagus	oesophagus
33	chr17:17106000-17107400	Weak transcription	HSMMtube	muscle
34	chr17:17106000-17108600	Enhancers	Right Ventricle	heart
35	chr17:17106200-17108400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr17:17106200-17109200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr17:17106400-17107400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr17:17106400-17107400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr17:17106400-17107400	Weak transcription	Fetal Intestine Large	intestine
40	chr17:17106400-17107600	Enhancers	Brain Substantia Nigra	brain
41	chr17:17106400-17107800	Weak transcription	Primary T cells from cord blood	blood
42	chr17:17106400-17108000	Enhancers	Ovary	ovary
43	chr17:17106400-17108200	Enhancers	Liver	Liver
44	chr17:17106400-17108200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
45	chr17:17106400-17108800	Enhancers	Right Atrium	heart
46	chr17:17106400-17110400	Enhancers	Fetal Brain Male	brain
47	chr17:17106600-17107400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr17:17106600-17107400	Weak transcription	Brain Germinal Matrix	brain
49	chr17:17106600-17107400	Weak transcription	A549	lung
50	chr17:17106600-17107600	Enhancers	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links