Variant report

Variant	esv3442525
Chromosome Location	chr17:38598451-38601299
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:616)
CpG islands
(count:489)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:616 , 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	chr17:38600954-38601646	GM12878	blood:	n/a	n/a
2	ATF3	chr17:38599946-38600818	A549	lung:	n/a	n/a
3	ATF3	chr17:38600981-38601936	A549	lung:	n/a	n/a
4	BCL3	chr17:38601251-38602640	A549	lung:	n/a	n/a
5	BCL3	chr17:38600013-38602435	A549	lung:	n/a	n/a
6	BCL3	chr17:38598687-38599634	A549	lung:	n/a	chr17:38599413-38599426
7	BCL3	chr17:38599906-38601096	A549	lung:	n/a	n/a
8	BCLAF1	chr17:38600945-38601503	GM12878	blood:	n/a	n/a
9	BHLHE40	chr17:38601137-38601551	GM12878	blood:	n/a	n/a
10	BHLHE40	chr17:38600014-38600189	GM12878	blood:	n/a	n/a
11	BHLHE40	chr17:38600044-38600244	K562	blood:	n/a	n/a
12	BRCA1	chr17:38600078-38600201	H1-hESC	embryonic stem cell:	n/a	n/a
13	CBX3	chr17:38598667-38599361	K562	blood:	n/a	n/a
14	CBX3	chr17:38599950-38600346	K562	blood:	n/a	n/a
15	CCNT2	chr17:38599641-38600354	K562	blood:	n/a	n/a
16	CEBPB	chr17:38599976-38600346	H1-hESC	embryonic stem cell:	n/a	chr17:38600149-38600160
17	CEBPB	chr17:38600959-38601636	GM12878	blood:	n/a	n/a
18	CEBPB	chr17:38599935-38600378	ECC-1	luminal epithelium:	n/a	chr17:38600149-38600160
19	CEBPB	chr17:38599912-38600435	MCF-7	breast:	n/a	chr17:38600149-38600160
20	CEBPB	chr17:38599956-38600343	HepG2	liver:	n/a	chr17:38600149-38600160
21	CEBPB	chr17:38600001-38600254	K562	blood:	n/a	chr17:38600149-38600160
22	CEBPB	chr17:38599557-38600541	A549	lung:	n/a	chr17:38600149-38600160
23	CEBPB	chr17:38599970-38600345	HepG2	liver:	n/a	chr17:38600149-38600160
24	CEBPB	chr17:38600038-38600373	A549	lung:	n/a	chr17:38600149-38600160
25	CEBPB	chr17:38599963-38600353	K562	blood:	n/a	chr17:38600149-38600160
26	CEBPB	chr17:38599967-38600351	A549	lung:	n/a	chr17:38600149-38600160
27	CEBPB	chr17:38599937-38600334	K562	blood:	n/a	chr17:38600149-38600160
28	CEBPB	chr17:38600036-38600436	MCF-7	breast:	n/a	chr17:38600149-38600160
29	CEBPB	chr17:38599961-38600350	IMR90	lung:	n/a	chr17:38600149-38600160
30	CEBPB	chr17:38599969-38600334	Hela-S3	cervix:	n/a	chr17:38600149-38600160
31	CEBPB	chr17:38599982-38600218	HepG2	liver:	n/a	chr17:38600149-38600160
32	CEBPB	chr17:38599897-38600252	HepG2	liver:	n/a	chr17:38600149-38600160
33	CEBPD	chr17:38600007-38600282	HepG2	liver:	n/a	n/a
34	CEBPD	chr17:38600021-38600234	HepG2	liver:	n/a	n/a
35	CHD1	chr17:38600083-38600134	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD1	chr17:38600095-38600228	GM12878	blood:	n/a	n/a
37	CHD1	chr17:38598788-38602578	IMR90	lung:	n/a	chr17:38599853-38599863 chr17:38599682-38599692
38	CHD1	chr17:38601112-38601461	GM12878	blood:	n/a	n/a
39	CHD2	chr17:38600075-38600183	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr17:38599457-38599480	K562	blood:	n/a	n/a
41	CHD2	chr17:38600005-38600316	HepG2	liver:	n/a	n/a
42	CREB1	chr17:38599376-38600497	A549	lung:	n/a	n/a
43	CTCF	chr17:38599946-38600296	IMR90	lung:	n/a	n/a
44	CTCF	chr17:38600040-38600190	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr17:38599405-38599594	Lung_OC	lung:	n/a	n/a
46	CTCF	chr17:38599460-38599610	BJ	skin:	n/a	n/a
47	CTCF	chr17:38599985-38600270	GM13977	blood:	n/a	n/a
48	CTCF	chr17:38599989-38600187	A549	lung:	n/a	n/a
49	CTCF	chr17:38600060-38600210	HCM	heart:	n/a	n/a
50	CTCF	chr17:38599963-38600274	GM19240	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	chr17:38599271-38599321	AG04450	lung:	fetal
2	chr17:38599271-38599321	AG04450	lung:	fetal
3	chr17:38599465-38599515	AG09309	skin:	n/a
4	chr17:38599508-38599558	HPAEpiC	pulmonary alveolar:	n/a
5	chr17:38599682-38599732	AoSMC	blood vessel:	n/a
6	chr17:38599682-38599732	AG04450	lung:	fetal
7	chr17:38600305-38600355	AG04449	skin:	fetal
8	chr17:38599056-38599106	Hela-S3	cervix:	n/a
9	chr17:38599508-38599558	PANC-1	pancreas:	n/a
10	chr17:38599366-38599416	HEEpiC	esophagus:	n/a
11	chr17:38599682-38599732	NB4	blood:	n/a
12	chr17:38599508-38599558	HAEpiC	amniotic membrane:	n/a
13	chr17:38599508-38599558	GM12892	blood:	n/a
14	chr17:38599366-38599416	AG09319	gingival:	n/a
15	chr17:38599056-38599106	IMR90	lung:	fetal
16	chr17:38599271-38599321	Jurkat	blood:	n/a
17	chr17:38599508-38599558	H1-hESC	embryonic stem cell:	embryo
18	chr17:38599056-38599106	Caco-2	colon:	n/a
19	chr17:38599465-38599515	HUVEC	blood vessel:	n/a
20	chr17:38599271-38599321	HCT-116	colon:	n/a
21	chr17:38599465-38599515	HRE	kidney:	n/a
22	chr17:38599056-38599106	HEK293	kidney:	embryo
23	chr17:38599271-38599321	SK-N-MC	brain:	n/a
24	chr17:38599508-38599558	Hepatocyte	liver:	n/a
25	chr17:38599271-38599321	HEEpiC	esophagus:	n/a
26	chr17:38599508-38599558	HEEpiC	esophagus:	n/a
27	chr17:38599763-38599813	ECC-1	luminal epithelium:	n/a
28	chr17:38599763-38599813	AG04449	skin:	fetal
29	chr17:38599366-38599416	ProgFib	skin:	n/a
30	chr17:38600305-38600355	BJ	skin:	n/a
31	chr17:38599508-38599558	AG09319	gingival:	n/a
32	chr17:38599366-38599416	AG04449	skin:	fetal
33	chr17:38599763-38599813	HCF	heart:	n/a
34	chr17:38599465-38599515	PFSK-1	brain:	n/a
35	chr17:38599271-38599321	IMR90	lung:	fetal
36	chr17:38600305-38600355	NHDF-neo	bronchial:	n/a
37	chr17:38599763-38599813	ProgFib	skin:	n/a
38	chr17:38600305-38600355	MCF10A-Er-Src	breast:	n/a
39	chr17:38599056-38599106	AoSMC	blood vessel:	n/a
40	chr17:38599763-38599813	CMK	blood:	n/a
41	chr17:38599366-38599416	Caco-2	colon:	n/a
42	chr17:38599056-38599106	NHBE	bronchial:	n/a
43	chr17:38599763-38599813	NB4	blood:	n/a
44	chr17:38599056-38599106	SKMC	muscle:	n/a
45	chr17:38599763-38599813	GM19239	blood:	n/a
46	chr17:38599763-38599813	NHBE	bronchial:	n/a
47	chr17:38599271-38599321	AoSMC	blood vessel:	n/a
48	chr17:38600305-38600355	NT2-D1	testis:	n/a
49	chr17:38599366-38599416	HEK293	kidney:	embryo
50	chr17:38599056-38599106	HPAEpiC	pulmonary alveolar:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr17:38600534..38602477-chr17:38644496..38646702,2	K562	blood:
2	chr17:38597908..38601053-chr17:38654458..38659532,5	MCF-7	breast:
3	chr17:38600130..38602545-chr17:38675909..38679796,4	MCF-7	breast:
4	chr17:38471466..38480107-chr17:38600254..38606378,11	MCF-7	breast:
5	chr17:38336165..38338939-chr17:38598006..38600043,2	MCF-7	breast:
6	chr17:38517632..38520244-chr17:38599613..38602533,3	K562	blood:
7	chr17:38516138..38520860-chr17:38599243..38602533,5	K562	blood:
8	chr17:38456433..38460322-chr17:38596356..38599161,3	MCF-7	breast:
9	chr17:38600647..38602371-chr17:38712031..38713969,2	K562	blood:
10	chr17:38600670..38603661-chr17:38683686..38685689,3	MCF-7	breast:
11	chr17:38477561..38480066-chr17:38600149..38601778,2	K562	blood:
12	chr17:38597471..38599668-chr17:38689776..38691457,2	K562	blood:
13	chr17:38600239..38603035-chr17:38630474..38632189,2	MCF-7	breast:
14	chr17:38507026..38508719-chr17:38598987..38601879,2	K562	blood:
15	chr17:38571221..38576195-chr17:38597437..38603899,8	K562	blood:
16	chr17:38598881..38602329-chr17:38713858..38720847,8	MCF-7	breast:
17	chr17:38600754..38602507-chr17:38629659..38632634,3	K562	blood:
18	chr17:38573555..38575286-chr17:38600280..38602539,2	MCF-7	breast:
19	chr17:38255561..38257319-chr17:38599585..38601482,2	K562	blood:
20	chr17:38555377..38556004-chr17:38599008..38599961,2	K562	blood:
21	chr17:38599782..38601968-chr20:52556470..52558647,2	MCF-7	breast:
22	chr17:38461615..38484404-chr17:38597525..38608992,85	MCF-7	breast:
23	chr17:38336336..38337866-chr17:38600046..38601570,2	MCF-7	breast:
24	chr17:38518063..38521220-chr17:38597683..38601473,5	MCF-7	breast:
25	chr17:38572047..38583621-chr17:38597341..38605150,24	MCF-7	breast:
26	chr17:38599719..38603336-chr17:38637091..38642832,5	MCF-7	breast:
27	chr17:38587973..38589674-chr17:38599835..38601387,2	MCF-7	breast:
28	chr17:38598261..38600683-chr9:136220142..136221734,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000240125	TF binding region
IGFBP4	TF binding region
ENSG00000240125	CpG island
IGFBP4	CpG island
ENSG00000126353	chromatin interactions
ENSG00000148290	chromatin interactions
ENSG00000131747	chromatin interactions
ENSG00000131759	chromatin interactions
ENSG00000108352	chromatin interactions
ENSG00000236352	chromatin interactions
ENSG00000266208	chromatin interactions
ENSG00000183153	chromatin interactions
ENSG00000126368	chromatin interactions
ENSG00000131746	chromatin interactions
ENSG00000270145	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572691005	chr17:38598471-38598472	Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs544225808	chr17:38598487-38598488	Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs191883785	chr17:38598518-38598519	Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs534256844	chr17:38598550-38598551	Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs554826258	chr17:38598559-38598560	Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs574381917	chr17:38598561-38598562	Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs561848052	chr17:38598575-38598576	Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs573767064	chr17:38598663-38598664	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs372394733	chr17:38598730-38598731	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs544316754	chr17:38598744-38598745	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs565088696	chr17:38598785-38598786	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs147695962	chr17:38598802-38598803	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs533505348	chr17:38598810-38598811	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs185314554	chr17:38598817-38598818	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs35711905	chr17:38598860-38598861	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs190341358	chr17:38598879-38598880	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs4641798	chr17:38598892-38598893	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs142120869	chr17:38598896-38598897	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs549572291	chr17:38598934-38598935	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs568178223	chr17:38598937-38598938	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs535517686	chr17:38598957-38598958	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs550332548	chr17:38598965-38598966	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs568832255	chr17:38598999-38599000	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs540240303	chr17:38599016-38599017	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs377146612	chr17:38599099-38599100	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs557636994	chr17:38599127-38599128	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs584438	chr17:38599172-38599173	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
28	rs584828	chr17:38599230-38599231	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs144405986	chr17:38599255-38599256	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs376861107	chr17:38599313-38599314	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs544691235	chr17:38599349-38599350	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs10305278	chr17:38599408-38599409	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs577979623	chr17:38599420-38599421	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs182582822	chr17:38599464-38599465	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs560788843	chr17:38599474-38599475	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs527956923	chr17:38599511-38599512	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs549633610	chr17:38599524-38599525	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs561443549	chr17:38599527-38599528	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs564031364	chr17:38599545-38599546	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs562183724	chr17:38599547-38599548	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs533408962	chr17:38599561-38599562	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs529025341	chr17:38599564-38599565	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs550641637	chr17:38599586-38599587	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs568818486	chr17:38599588-38599589	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs12939008	chr17:38599596-38599597	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs369021877	chr17:38599649-38599650	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs550931004	chr17:38599703-38599704	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs7207151	chr17:38599722-38599723	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs533817088	chr17:38599880-38599881	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs9891003	chr17:38599915-38599916	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	24379144	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Urothelial carcinoma	21177765	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Disease	22962312	CNVD
Mental retardation	20152051	CNVD
Mental retardation	19951919	CNVD
Mental retardation	22817714	CNVD
Mental retardation	21956041	CNVD
Brain cancer	19584924	CNVD
Glioblastoma multiforme	22286061	CNVD
Schizophrenia	21399695	CNVD
Non-syndromic sensorineural hearing loss	19165922	CNVD
Prader-willi syndrome	20588305	CNVD
17q21.31 microdeletion syndrome	16940994	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
17q21.31 microdeletion syndrome	22283845	CNVD
Intellectual disability	22194194	CNVD
17q21.31 microdeletion syndrome	20606400	CNVD
17q21.31 microdeletion syndrome	18628315	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Human papillomavirus	17975027	CNVD
Breast cancer	19767729	CNVD
Breast cancer	20409316	CNVD
Medulloblastoma	16783165	CNVD
Bladder cancer	21909424	CNVD
Intracranial arachnoid cysts	20187927	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:559 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38579600-38598800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr17:38584600-38600200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr17:38589600-38598800	Weak transcription	Fetal Intestine Small	intestine
4	chr17:38589800-38598600	Weak transcription	NHDF-Ad	bronchial
5	chr17:38590200-38599000	Weak transcription	Lung	lung
6	chr17:38590400-38598600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr17:38590400-38598800	Weak transcription	Osteobl	bone
8	chr17:38593200-38598800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr17:38593600-38598800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr17:38593800-38598600	Weak transcription	HUVEC	blood vessel
11	chr17:38594000-38598600	Weak transcription	Placenta	Placenta
12	chr17:38594000-38598800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr17:38594000-38598800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr17:38594000-38598800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr17:38594000-38598800	Weak transcription	Fetal Lung	lung
16	chr17:38594000-38598800	Weak transcription	HMEC	breast
17	chr17:38594000-38598800	Weak transcription	NHLF	lung
18	chr17:38594000-38599000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr17:38594200-38598600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr17:38594200-38598600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr17:38594200-38598600	Weak transcription	Right Atrium	heart
22	chr17:38594200-38598800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr17:38594200-38598800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr17:38594200-38598800	Weak transcription	Esophagus	oesophagus
25	chr17:38594200-38598800	Weak transcription	Left Ventricle	heart
26	chr17:38594200-38598800	Weak transcription	Dnd41	blood
27	chr17:38594200-38599000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr17:38594200-38599000	Weak transcription	HSMM	muscle
29	chr17:38594600-38598800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr17:38597200-38598600	Enhancers	A549	lung
31	chr17:38597400-38598800	Enhancers	Colon Smooth Muscle	Colon
32	chr17:38597600-38598600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr17:38597600-38598800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr17:38597600-38598800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr17:38597600-38598800	Weak transcription	Fetal Heart	heart
36	chr17:38597600-38599000	Enhancers	Fetal Stomach	stomach
37	chr17:38597600-38599000	Weak transcription	HSMMtube	muscle
38	chr17:38597800-38598800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr17:38597800-38598800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr17:38597800-38598800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr17:38597800-38598800	Weak transcription	Ovary	ovary
42	chr17:38597800-38598800	Weak transcription	Right Ventricle	heart
43	chr17:38597800-38598800	Weak transcription	K562	blood
44	chr17:38597800-38599000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr17:38597800-38599000	Weak transcription	Primary B cells from cord blood	blood
46	chr17:38597800-38599000	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr17:38597800-38599000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr17:38597800-38599000	Weak transcription	Stomach Mucosa	stomach
49	chr17:38598000-38599000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr17:38598200-38598600	Weak transcription	Primary B cells from peripheral blood	blood

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