Variant report

Variant	esv3391098
Chromosome Location	chr17:37773251-37775799
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	ARID3A	chr17:37774705-37774830	HepG2	liver:	n/a	chr17:37774718-37774734 chr17:37774719-37774735
2	ATF3	chr17:37774014-37774192	K562	blood:	n/a	chr17:37774141-37774150 chr17:37774124-37774133
3	BHLHE40	chr17:37773917-37774311	A549	lung:	n/a	chr17:37774117-37774126 chr17:37774116-37774125 chr17:37774116-37774125
4	BHLHE40	chr17:37773888-37774303	K562	blood:	n/a	chr17:37774117-37774126 chr17:37774116-37774125 chr17:37774116-37774125
5	BHLHE40	chr17:37773499-37774374	HepG2	liver:	n/a	chr17:37774117-37774126 chr17:37774116-37774125 chr17:37774116-37774125
6	BHLHE40	chr17:37773952-37774258	HepG2	liver:	n/a	chr17:37774117-37774126 chr17:37774116-37774125 chr17:37774116-37774125
7	BHLHE40	chr17:37773696-37774351	GM12878	blood:	n/a	chr17:37774117-37774126 chr17:37774116-37774125 chr17:37774116-37774125
8	BRCA1	chr17:37774837-37774839	Hela-S3	cervix:	n/a	n/a
9	CCNT2	chr17:37773930-37774203	K562	blood:	n/a	n/a
10	CEBPB	chr17:37775703-37776310	HepG2	liver:	n/a	n/a
11	CHD2	chr17:37773880-37774372	Hela-S3	cervix:	n/a	n/a
12	CREB1	chr17:37774762-37775111	A549	lung:	n/a	n/a
13	CREB1	chr17:37773877-37774555	A549	lung:	n/a	n/a
14	CTCF	chr17:37775520-37775670	GM12873	blood:	n/a	n/a
15	CTCF	chr17:37774028-37774150	Spleen_OC	spleen:	n/a	n/a
16	CTCF	chr17:37774336-37774354	Spleen_OC	spleen:	n/a	n/a
17	CTCF	chr17:37775640-37775790	GM12864	blood:	n/a	n/a
18	CTCF	chr17:37774140-37774290	GM12865	blood:	n/a	n/a
19	CTCF	chr17:37775400-37775550	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr17:37774284-37774312	Kidney_OC	kidney:	n/a	n/a
21	CTCF	chr17:37774319-37774323	Kidney_OC	kidney:	n/a	n/a
22	CTCF	chr17:37775440-37775590	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr17:37775660-37775810	GM12873	blood:	n/a	n/a
24	CTCF	chr17:37773691-37773761	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr17:37775720-37775870	GM12870	blood:	n/a	n/a
26	CTCF	chr17:37775520-37775670	HepG2	liver:	n/a	n/a
27	CTCF	chr17:37773637-37773648	GM12878	blood:	n/a	n/a
28	CTCF	chr17:37773686-37773726	GM12892	blood:	n/a	n/a
29	E2F1	chr17:37773699-37774634	Hela-S3	cervix:	n/a	chr17:37774198-37774207 chr17:37774140-37774154 chr17:37774374-37774388
30	E2F4	chr17:37774623-37775055	MCF10A-Er-Src	breast:	n/a	chr17:37774891-37774903
31	E2F6	chr17:37773890-37774334	H1-hESC	embryonic stem cell:	n/a	chr17:37774171-37774182 chr17:37774198-37774207 chr17:37774140-37774154
32	E2F6	chr17:37773997-37774252	K562	blood:	n/a	chr17:37774171-37774182 chr17:37774198-37774207 chr17:37774140-37774154
33	E2F6	chr17:37773911-37774416	K562	blood:	n/a	chr17:37774171-37774182 chr17:37774198-37774207 chr17:37774140-37774154 chr17:37774374-37774388
34	E2F6	chr17:37773820-37775024	A549	lung:	n/a	chr17:37774171-37774182 chr17:37774198-37774207 chr17:37774891-37774903 chr17:37774140-37774154 chr17:37774374-37774388
35	E2F6	chr17:37773781-37774385	H1-hESC	embryonic stem cell:	n/a	chr17:37774171-37774182 chr17:37774198-37774207 chr17:37774140-37774154
36	E2F6	chr17:37773801-37774463	K562	blood:	n/a	chr17:37774171-37774182 chr17:37774198-37774207 chr17:37774140-37774154 chr17:37774374-37774388
37	E2F6	chr17:37773895-37774452	A549	lung:	n/a	chr17:37774171-37774182 chr17:37774198-37774207 chr17:37774140-37774154 chr17:37774374-37774388
38	EBF1	chr17:37773937-37774397	GM12878	blood:	n/a	chr17:37774129-37774140
39	EBF1	chr17:37773842-37774445	GM12878	blood:	n/a	chr17:37774129-37774140
40	EBF1	chr17:37775219-37775586	GM12878	blood:	n/a	n/a
41	EBF1	chr17:37773910-37774680	GM12878	blood:	n/a	chr17:37774129-37774140
42	EGR1	chr17:37774253-37774484	K562	blood:	n/a	n/a
43	EGR1	chr17:37773748-37774195	K562	blood:	n/a	chr17:37774167-37774177 chr17:37774143-37774153
44	EGR1	chr17:37774211-37774450	K562	blood:	n/a	n/a
45	EGR1	chr17:37773917-37774136	K562	blood:	n/a	n/a
46	EGR1	chr17:37773774-37774184	ECC-1	luminal epithelium:	n/a	chr17:37774167-37774177 chr17:37774143-37774153
47	ELF1	chr17:37773464-37774376	GM12878	blood:	n/a	n/a
48	ELF1	chr17:37773877-37774244	K562	blood:	n/a	n/a
49	ELF1	chr17:37773884-37774195	HepG2	liver:	n/a	n/a
50	ELF1	chr17:37773978-37774224	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:37774349-37774399	GM12892	blood:	n/a
2	chr17:37774934-37774984	T-47D	breast:	n/a
3	chr17:37774349-37774399	GM12892	blood:	n/a
4	chr17:37774934-37774984	T-47D	breast:	n/a
5	chr17:37774857-37774907	HCT-116	colon:	n/a
6	chr17:37774058-37774108	MCF-7	breast:	n/a
7	chr17:37773848-37773898	U87	brain:	n/a
8	chr17:37774058-37774108	GM12891	blood:	n/a
9	chr17:37774058-37774108	NB4	blood:	n/a
10	chr17:37774934-37774984	GM12878	blood:	n/a
11	chr17:37774934-37774984	AG04449	skin:	fetal
12	chr17:37774242-37774292	AoSMC	blood vessel:	n/a
13	chr17:37774242-37774292	PANC-1	pancreas:	n/a
14	chr17:37774058-37774108	NH-A	brain:	n/a
15	chr17:37774349-37774399	Hela-S3	cervix:	n/a
16	chr17:37773848-37773898	Jurkat	blood:	n/a
17	chr17:37774934-37774984	NT2-D1	testis:	n/a
18	chr17:37773848-37773898	HEEpiC	esophagus:	n/a
19	chr17:37774457-37774507	HRCEpiC	kidney:	n/a
20	chr17:37773848-37773898	NHDF-neo	bronchial:	n/a
21	chr17:37774857-37774907	HCPEpiC	choroid plexus:	n/a
22	chr17:37774857-37774907	HUVEC	blood vessel:	n/a
23	chr17:37774893-37774943	GM12878	blood:	n/a
24	chr17:37774242-37774292	Hela-S3	cervix:	n/a
25	chr17:37774349-37774399	HCM	heart:	n/a
26	chr17:37774857-37774907	HRE	kidney:	n/a
27	chr17:37774457-37774507	HCPEpiC	choroid plexus:	n/a
28	chr17:37774934-37774984	Caco-2	colon:	n/a
29	chr17:37774857-37774907	HRPEpiC	eye:	n/a
30	chr17:37774857-37774907	AG04449	skin:	fetal
31	chr17:37774457-37774507	HepG2	liver:	n/a
32	chr17:37774934-37774984	ECC-1	luminal epithelium:	n/a
33	chr17:37774457-37774507	HPAEpiC	pulmonary alveolar:	n/a
34	chr17:37774457-37774507	U87	brain:	n/a
35	chr17:37773848-37773898	PANC-1	pancreas:	n/a
36	chr17:37774893-37774943	PrEC	prostate:	n/a
37	chr17:37773848-37773898	ECC-1	luminal epithelium:	n/a
38	chr17:37774934-37774984	ProgFib	skin:	n/a
39	chr17:37774058-37774108	SAEC	small airway:	n/a
40	chr17:37774457-37774507	HRE	kidney:	n/a
41	chr17:37773848-37773898	HUVEC	blood vessel:	n/a
42	chr17:37774893-37774943	MCF10A-Er-Src	breast:	n/a
43	chr17:37774934-37774984	K562	blood:	n/a
44	chr17:37774242-37774292	IMR90	lung:	fetal
45	chr17:37773848-37773898	GM19239	blood:	n/a
46	chr17:37773848-37773898	HL-60	blood:	n/a
47	chr17:37774934-37774984	SKMC	muscle:	n/a
48	chr17:37774457-37774507	MCF10A-Er-Src	breast:	n/a
49	chr17:37773848-37773898	AG04449	skin:	fetal
50	chr17:37774058-37774108	ovcar-3	ovarian:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:37773726..37775508-chr17:37899665..37902639,2	MCF-7	breast:
2	chr17:37769144..37771005-chr17:37773634..37775729,2	MCF-7	breast:
3	chr17:37356113..37357004-chr17:37773849..37774768,2	NB4	blood:
4	chr17:37768363..37771309-chr17:37772118..37774468,3	K562	blood:
5	chr17:37773404..37776321-chr17:37819728..37822241,2	MCF-7	breast:
6	chr17:37771753..37773281-chr17:37910069..37912599,2	K562	blood:
7	chr17:37758356..37760181-chr17:37774194..37775834,2	MCF-7	breast:
8	chr17:37772840..37775144-chr17:37791860..37794775,2	MCF-7	breast:
9	chr17:37730305..37732141-chr17:37773715..37775844,2	MCF-7	breast:
10	chr17:37773259..37775797-chr17:37912370..37914095,2	MCF-7	breast:
11	chr17:37763822..37767125-chr17:37772337..37774939,3	MCF-7	breast:
12	chr17:37769208..37773729-chr17:37777189..37781252,6	K562	blood:
13	chr17:37772115..37773801-chr17:37825160..37827936,2	K562	blood:
14	chr17:37774543..37777330-chr17:37885224..37887436,2	K562	blood:
15	chr17:37773896..37776239-chr17:37886682..37888820,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214546	TF binding region
ENSG00000214546	CpG island
ENSG00000131748	chromatin interactions
ENSG00000173991	chromatin interactions
ENSG00000108298	chromatin interactions
ENSG00000171532	chromatin interactions
ENSG00000141741	chromatin interactions

Extended variants
information (count: 83 )
Associated
traits (count: 105 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571993856	chr17:37773256-37773257	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs8075931	chr17:37773264-37773265	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs557770140	chr17:37773265-37773266	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs8076653	chr17:37773403-37773404	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs186777720	chr17:37773405-37773406	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs540373250	chr17:37773406-37773407	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs8075130	chr17:37773424-37773425	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs557181587	chr17:37773477-37773478	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs544016492	chr17:37773500-37773501	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs368845462	chr17:37773518-37773519	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs577893620	chr17:37773521-37773522	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs145757603	chr17:37773546-37773547	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs560574258	chr17:37773554-37773555	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs527681613	chr17:37773555-37773556	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs549350412	chr17:37773613-37773614	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs561376642	chr17:37773633-37773634	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs531812611	chr17:37773637-37773638	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs189850550	chr17:37773677-37773678	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs571853658	chr17:37773715-37773716	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs539359678	chr17:37773782-37773783	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs547773648	chr17:37773787-37773788	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs566318489	chr17:37773799-37773800	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs533565029	chr17:37773801-37773802	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs372587881	chr17:37773905-37773906	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs554911006	chr17:37773915-37773916	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs181925017	chr17:37773959-37773960	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs573421292	chr17:37774010-37774011	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs71369780	chr17:37774042-37774043	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs555971217	chr17:37774053-37774054	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs577750401	chr17:37774235-37774236	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs35808545	chr17:37774254-37774255	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs545332598	chr17:37774264-37774265	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs35376731	chr17:37774269-37774270	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs560190034	chr17:37774271-37774272	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs572263103	chr17:37774274-37774275	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs543058106	chr17:37774350-37774351	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs534115395	chr17:37774408-37774409	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs538579461	chr17:37774422-37774423	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs142801039	chr17:37774558-37774559	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs531878241	chr17:37774610-37774611	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs76704946	chr17:37774669-37774670	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs532394927	chr17:37774718-37774719	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs532603350	chr17:37774747-37774748	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs547933388	chr17:37774758-37774759	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs182521166	chr17:37774761-37774762	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs147660260	chr17:37774779-37774780	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs548596051	chr17:37774869-37774870	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs566904821	chr17:37774877-37774878	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs537588172	chr17:37774935-37774936	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs555836302	chr17:37774967-37774968	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Breast cancer	17001317	CNVD
Breast cancer	17157792	CNVD
Bladder cancer	19088036	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
Meningioma	19431122	CNVD
Neurocytoma	17123091	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	24379144	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	17850661	CNVD
Primary lung adenocarcinoma	16799635	CNVD
HIV/AIDS	18848619	CNVD
Rheumatoid arthritis	19220326	CNVD
Rheumatoid arthritis	18848619	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	18848619	CNVD
Type 1 diabetes	19220326	CNVD
HIV/AIDS	17330138	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Acute monocytic leukemia	16498392	CNVD
Breast cancer	20409316	CNVD
Myelodysplastic syndrome	18663149	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	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
Prostate cancer	18632612	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
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:466 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37763600-37773600	Weak transcription	Gastric	stomach
2	chr17:37768000-37773600	Weak transcription	Right Atrium	heart
3	chr17:37771800-37776200	Enhancers	Fetal Brain Male	brain
4	chr17:37772800-37773400	Enhancers	Fetal Brain Female	brain
5	chr17:37773000-37773600	Bivalent Enhancer	Brain Germinal Matrix	brain
6	chr17:37773200-37773400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr17:37773200-37773400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr17:37773200-37773400	Enhancers	Hela-S3	cervix
9	chr17:37773200-37773600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr17:37773200-37773600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
11	chr17:37773200-37773600	Enhancers	Spleen	Spleen
12	chr17:37773200-37773800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr17:37773400-37773600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
14	chr17:37773400-37773600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr17:37773400-37773600	Bivalent Enhancer	Primary T cells from cord blood	blood
16	chr17:37773400-37773600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr17:37773400-37773600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr17:37773400-37773600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
19	chr17:37773400-37773600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr17:37773400-37773600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
21	chr17:37773400-37773600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr17:37773400-37773600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
23	chr17:37773400-37773600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr17:37773400-37773600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr17:37773400-37773600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr17:37773400-37773600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr17:37773400-37773600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
28	chr17:37773400-37773600	Enhancers	Adipose Nuclei	Adipose
29	chr17:37773400-37773600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
30	chr17:37773400-37773600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
31	chr17:37773400-37773600	Bivalent Enhancer	Fetal Heart	heart
32	chr17:37773400-37773600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
33	chr17:37773400-37773600	Enhancers	Right Ventricle	heart
34	chr17:37773400-37773600	Bivalent Enhancer	Dnd41	blood
35	chr17:37773400-37773800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr17:37773400-37773800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
37	chr17:37773400-37773800	Enhancers	Primary B cells from cord blood	blood
38	chr17:37773400-37773800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr17:37773400-37773800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
40	chr17:37773400-37773800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
41	chr17:37773400-37773800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr17:37773400-37773800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
43	chr17:37773400-37773800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr17:37773400-37773800	Bivalent Enhancer	Fetal Thymus	thymus
45	chr17:37773400-37773800	Enhancers	Left Ventricle	heart
46	chr17:37773400-37773800	Enhancers	Ovary	ovary
47	chr17:37773400-37773800	Bivalent Enhancer	HUVEC	blood vessel
48	chr17:37773400-37774000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr17:37773400-37774000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
50	chr17:37773400-37774000	Flanking Active TSS	Fetal Brain Female	brain

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