Variant report

Variant	esv3396791
Chromosome Location	chr3:20080148-20083246
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	chr3:20080060-20080685	K562	blood:	n/a	n/a
2	ARID3A	chr3:20082402-20082577	K562	blood:	n/a	n/a
3	ARID3A	chr3:20083156-20083470	K562	blood:	n/a	n/a
4	ARID3A	chr3:20081499-20081651	K562	blood:	n/a	n/a
5	ATF2	chr3:20081302-20081776	GM12878	blood:	n/a	n/a
6	ATF2	chr3:20082866-20083368	GM12878	blood:	n/a	n/a
7	BCL3	chr3:20081163-20081784	GM12878	blood:	n/a	chr3:20081692-20081705 chr3:20081686-20081699 chr3:20081365-20081374 chr3:20081683-20081696 chr3:20081685-20081698 chr3:20081684-20081693 chr3:20081691-20081704
8	BCL3	chr3:20081817-20082483	GM12878	blood:	n/a	chr3:20081920-20081929 chr3:20081923-20081932 chr3:20081917-20081926 chr3:20081918-20081931 chr3:20082391-20082404 chr3:20081916-20081929
9	BCLAF1	chr3:20082061-20082647	GM12878	blood:	n/a	chr3:20082391-20082404
10	BCLAF1	chr3:20082727-20083314	GM12878	blood:	n/a	chr3:20082848-20082857
11	BCLAF1	chr3:20081249-20081751	GM12878	blood:	n/a	chr3:20081692-20081705 chr3:20081686-20081699 chr3:20081365-20081374 chr3:20081683-20081696 chr3:20081685-20081698 chr3:20081684-20081693 chr3:20081691-20081704
12	BCLAF1	chr3:20081323-20081820	GM12878	blood:	n/a	chr3:20081692-20081705 chr3:20081686-20081699 chr3:20081365-20081374 chr3:20081683-20081696 chr3:20081685-20081698 chr3:20081684-20081693 chr3:20081691-20081704
13	BHLHE40	chr3:20082135-20083420	K562	blood:	n/a	chr3:20082842-20082858 chr3:20082834-20082850
14	BHLHE40	chr3:20082970-20083317	HepG2	liver:	n/a	n/a
15	BHLHE40	chr3:20082112-20083317	GM12878	blood:	n/a	chr3:20082842-20082858 chr3:20082834-20082850
16	BHLHE40	chr3:20081161-20081751	GM12878	blood:	n/a	chr3:20081686-20081702 chr3:20081683-20081699
17	BHLHE40	chr3:20081131-20081810	K562	blood:	n/a	chr3:20081686-20081702 chr3:20081683-20081699
18	BHLHE40	chr3:20080055-20080701	K562	blood:	n/a	n/a
19	BRCA1	chr3:20081442-20081622	GM12878	blood:	n/a	n/a
20	BRCA1	chr3:20081212-20081617	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr3:20082957-20083307	Hela-S3	cervix:	n/a	n/a
22	CBX3	chr3:20081107-20081822	K562	blood:	n/a	n/a
23	CBX3	chr3:20081179-20081618	K562	blood:	n/a	n/a
24	CBX3	chr3:20082079-20083447	K562	blood:	n/a	n/a
25	CCNT2	chr3:20081196-20083412	K562	blood:	n/a	chr3:20081495-20081504 chr3:20083171-20083180
26	CCNT2	chr3:20080191-20080451	K562	blood:	n/a	n/a
27	CEBPB	chr3:20082186-20082541	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr3:20082930-20083348	Hela-S3	cervix:	n/a	chr3:20082945-20082956
29	CEBPB	chr3:20081399-20081689	Hela-S3	cervix:	n/a	n/a
30	CEBPD	chr3:20081189-20081757	K562	blood:	n/a	n/a
31	CEBPD	chr3:20082031-20082627	K562	blood:	n/a	n/a
32	CHD1	chr3:20081596-20081710	GM12878	blood:	n/a	n/a
33	CHD1	chr3:20082048-20082477	GM12878	blood:	n/a	n/a
34	CHD1	chr3:20082988-20083470	GM12878	blood:	n/a	n/a
35	CHD2	chr3:20081333-20081674	K562	blood:	n/a	chr3:20081469-20081479 chr3:20081373-20081383 chr3:20081454-20081464
36	CHD2	chr3:20083038-20083351	K562	blood:	n/a	n/a
37	CHD2	chr3:20082124-20083363	GM12878	blood:	n/a	n/a
38	CHD2	chr3:20081212-20083355	Hela-S3	cervix:	n/a	chr3:20081469-20081479 chr3:20081797-20081807 chr3:20081373-20081383 chr3:20081454-20081464
39	CHD2	chr3:20082115-20082545	K562	blood:	n/a	n/a
40	CHD2	chr3:20081533-20081653	HepG2	liver:	n/a	n/a
41	CHD2	chr3:20080840-20081749	GM12878	blood:	n/a	chr3:20081469-20081479 chr3:20081373-20081383 chr3:20081454-20081464
42	CHD2	chr3:20082955-20083324	HepG2	liver:	n/a	n/a
43	CHD2	chr3:20081445-20081653	H1-hESC	embryonic stem cell:	n/a	chr3:20081469-20081479 chr3:20081454-20081464
44	CREB1	chr3:20082019-20082543	A549	lung:	n/a	n/a
45	CREB1	chr3:20081291-20081686	A549	lung:	n/a	n/a
46	CTBP2	chr3:20082117-20083452	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr3:20081371-20081640	GM10266	blood:	n/a	chr3:20081459-20081469 chr3:20081385-20081393 chr3:20081385-20081398 chr3:20081462-20081471 chr3:20081456-20081474
48	CTCF	chr3:20081420-20081570	HCT-116	colon:	n/a	chr3:20081459-20081469 chr3:20081462-20081471 chr3:20081456-20081474
49	CTCF	chr3:20081820-20081970	GM12864	blood:	n/a	n/a
50	CTCF	chr3:20081035-20081782	MCF-7	breast:	n/a	chr3:20081459-20081469 chr3:20081385-20081393 chr3:20081385-20081398 chr3:20081462-20081471 chr3:20081456-20081474

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:20082916-20082966	HUVEC	blood vessel:	n/a
2	chr3:20081585-20081635	HCPEpiC	choroid plexus:	n/a
3	chr3:20082916-20082966	HUVEC	blood vessel:	n/a
4	chr3:20081585-20081635	HCPEpiC	choroid plexus:	n/a
5	chr3:20081518-20081568	PrEC	prostate:	n/a
6	chr3:20082425-20082475	SAEC	small airway:	n/a
7	chr3:20082543-20082593	GM19239	blood:	n/a
8	chr3:20082285-20082335	Caco-2	colon:	n/a
9	chr3:20081367-20081417	T-47D	breast:	n/a
10	chr3:20081161-20081211	MCF-7	breast:	n/a
11	chr3:20081518-20081568	HAEpiC	amniotic membrane:	n/a
12	chr3:20082543-20082593	GM06990	blood:	n/a
13	chr3:20082916-20082966	GM12878	blood:	n/a
14	chr3:20081585-20081635	HPAEpiC	pulmonary alveolar:	n/a
15	chr3:20081585-20081635	PrEC	prostate:	n/a
16	chr3:20082425-20082475	BE2_C	brain:	n/a
17	chr3:20082543-20082593	AG04450	lung:	fetal
18	chr3:20081367-20081417	ECC-1	luminal epithelium:	n/a
19	chr3:20081582-20081632	K562	blood:	n/a
20	chr3:20082916-20082966	ECC-1	luminal epithelium:	n/a
21	chr3:20081161-20081211	RPTEC	kidney:	n/a
22	chr3:20081161-20081211	SK-N-MC	brain:	n/a
23	chr3:20081585-20081635	MCF10A-Er-Src	breast:	n/a
24	chr3:20081367-20081417	NH-A	brain:	n/a
25	chr3:20081367-20081417	HEK293	kidney:	embryo
26	chr3:20082285-20082335	NB4	blood:	n/a
27	chr3:20081367-20081417	AG04450	lung:	fetal
28	chr3:20081518-20081568	HepG2	liver:	n/a
29	chr3:20081582-20081632	Jurkat	blood:	n/a
30	chr3:20082916-20082966	AG10803	skin:	n/a
31	chr3:20082916-20082966	NHBE	bronchial:	n/a
32	chr3:20081518-20081568	NH-A	brain:	n/a
33	chr3:20081516-20081566	PrEC	prostate:	n/a
34	chr3:20081367-20081417	AG04449	skin:	fetal
35	chr3:20081582-20081632	HPAEpiC	pulmonary alveolar:	n/a
36	chr3:20081585-20081635	Caco-2	colon:	n/a
37	chr3:20081585-20081635	HRPEpiC	eye:	n/a
38	chr3:20082916-20082966	GM06990	blood:	n/a
39	chr3:20082916-20082966	LNCaP	prostate:	n/a
40	chr3:20081161-20081211	HNPCEpiC	eye:	n/a
41	chr3:20081582-20081632	MCF10A-Er-Src	breast:	n/a
42	chr3:20082425-20082475	PANC-1	pancreas:	n/a
43	chr3:20082285-20082335	AG09319	gingival:	n/a
44	chr3:20081516-20081566	GM19239	blood:	n/a
45	chr3:20081367-20081417	Jurkat	blood:	n/a
46	chr3:20081518-20081568	SKMC	muscle:	n/a
47	chr3:20082425-20082475	GM19239	blood:	n/a
48	chr3:20082425-20082475	ProgFib	skin:	n/a
49	chr3:20081582-20081632	HMEC	breast:	n/a
50	chr3:20081585-20081635	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:19987513..19990087-chr3:20080861..20083140,3	MCF-7	breast:
2	chr3:20036427..20038510-chr3:20080865..20083451,2	K562	blood:
3	chr3:20083177..20086049-chr3:20086105..20087867,2	MCF-7	breast:
4	chr3:19979101..19981901-chr3:20077826..20080437,2	K562	blood:
5	chr3:20079279..20082964-chr3:20226299..20229620,6	K562	blood:
6	chr3:20079693..20081472-chr3:20203928..20206383,2	K562	blood:
7	chr3:20082249..20087148-chr3:20090873..20095169,4	K562	blood:
8	chr3:19988765..19989271-chr3:20079780..20080698,2	NB4	blood:
9	chr3:19988644..19989202-chr3:20081357..20082279,2	MCF-7	breast:
10	chr3:19986921..19992254-chr3:20078952..20084327,16	K562	blood:
11	chr3:20079527..20082964-chr3:20226742..20229620,4	K562	blood:
12	chr3:19986985..19992254-chr3:20079680..20083856,14	K562	blood:

Variant related genes	Relation type
KAT2B	TF binding region
KAT2B	CpG island
ENSG00000163576	chromatin interactions
ENSG00000201545	chromatin interactions
ENSG00000144566	chromatin interactions
ENSG00000129810	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568467297	chr3:20080154-20080155	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs372018051	chr3:20080188-20080189	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs370252243	chr3:20080205-20080206	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs569195516	chr3:20080215-20080216	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs372252029	chr3:20080232-20080233	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs559599593	chr3:20080332-20080333	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs552367563	chr3:20080341-20080342	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs539773168	chr3:20080356-20080357	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs375277491	chr3:20080388-20080389	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs558052295	chr3:20080394-20080395	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs374471209	chr3:20080397-20080398	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs34305027	chr3:20080416-20080417	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs62243072	chr3:20080424-20080425	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs147520060	chr3:20080445-20080446	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs535006610	chr3:20080498-20080499	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs184679737	chr3:20080510-20080511	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs79247024	chr3:20080534-20080535	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs140063664	chr3:20080541-20080542	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs116064039	chr3:20080542-20080543	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs546089029	chr3:20080574-20080575	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs371113392	chr3:20080581-20080582	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs544990261	chr3:20080646-20080647	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs9819915	chr3:20080648-20080649	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs528251064	chr3:20080694-20080695	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs115614286	chr3:20080706-20080707	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs568534180	chr3:20080726-20080727	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs74796696	chr3:20080734-20080735	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs533976077	chr3:20080781-20080782	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs529406041	chr3:20080793-20080794	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs375811086	chr3:20080829-20080830	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs550931799	chr3:20080830-20080831	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs189541521	chr3:20080840-20080841	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs181389650	chr3:20080843-20080844	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs142897081	chr3:20080889-20080890	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs184456324	chr3:20080902-20080903	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs188964922	chr3:20080916-20080917	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs150639025	chr3:20080987-20080988	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs555723375	chr3:20081025-20081026	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs200586455	chr3:20081031-20081032	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs181652106	chr3:20081086-20081087	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs78441191	chr3:20081088-20081089	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs139735292	chr3:20081125-20081126	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs575274585	chr3:20081156-20081157	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs545821677	chr3:20081158-20081159	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs373348853	chr3:20081195-20081196	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs577264803	chr3:20081268-20081269	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs116147381	chr3:20081303-20081304	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs374256390	chr3:20081311-20081312	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs115257396	chr3:20081348-20081349	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	mRNA abundance
50	rs540409483	chr3:20081364-20081365	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Autism	20531469	CNVD
Prostate cancer	19363497	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:465 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20078800-20080200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:20078800-20080400	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr3:20079200-20080200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr3:20079200-20080400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr3:20079400-20080200	Enhancers	Primary B cells from cord blood	blood
6	chr3:20079400-20080200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr3:20079400-20080200	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr3:20079400-20080200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr3:20079400-20080200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:20079400-20080400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr3:20079400-20080400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr3:20079400-20080400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr3:20079400-20080400	Enhancers	Psoas Muscle	Psoas
14	chr3:20079400-20080600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr3:20079400-20081000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:20079600-20080200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:20079600-20080200	Enhancers	Primary B cells from peripheral blood	blood
18	chr3:20079600-20080200	Enhancers	Primary T cells fromperipheralblood	blood
19	chr3:20079600-20080200	Enhancers	Colon Smooth Muscle	Colon
20	chr3:20079600-20080200	Enhancers	Fetal Lung	lung
21	chr3:20079600-20080200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr3:20079600-20080200	Enhancers	Thymus	Thymus
23	chr3:20079600-20080200	Bivalent Enhancer	HepG2	liver
24	chr3:20079600-20080400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr3:20079600-20080400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr3:20079600-20080400	Enhancers	Brain Anterior Caudate	brain
27	chr3:20079600-20080400	Enhancers	Fetal Intestine Large	intestine
28	chr3:20079600-20080400	Enhancers	Fetal Intestine Small	intestine
29	chr3:20079600-20080800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:20079800-20080200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr3:20079800-20080200	Enhancers	Liver	Liver
32	chr3:20079800-20080200	Enhancers	Brain Cingulate Gyrus	brain
33	chr3:20079800-20080200	Enhancers	Fetal Heart	heart
34	chr3:20079800-20080200	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr3:20079800-20080200	Enhancers	Rectal Smooth Muscle	rectum
36	chr3:20079800-20080200	Enhancers	Stomach Smooth Muscle	stomach
37	chr3:20080000-20080200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:20080000-20080200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr3:20080000-20080200	Enhancers	Brain Hippocampus Middle	brain
40	chr3:20080000-20080200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr3:20080000-20080200	Enhancers	Duodenum Mucosa	Duodenum
42	chr3:20080000-20080200	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr3:20080000-20080200	Enhancers	Fetal Stomach	stomach
44	chr3:20080000-20080200	Enhancers	Left Ventricle	heart
45	chr3:20080000-20080200	Weak transcription	Ovary	ovary
46	chr3:20080000-20080200	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr3:20080000-20080200	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr3:20080000-20080200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr3:20080000-20080200	Bivalent Enhancer	Dnd41	blood
50	chr3:20080000-20080200	Enhancers	GM12878-XiMat	blood

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