Variant report

Variant	esv1803617
Chromosome Location	chr5:14664479-14667143
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:870)
CpG islands
(count:489)
Chromatin interactive
region (count:28)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:870 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:14664658-14664818	K562	blood:	n/a	n/a
2	ARID3A	chr5:14664457-14664978	HepG2	liver:	n/a	n/a
3	ATF1	chr5:14664316-14664943	K562	blood:	n/a	n/a
4	ATF2	chr5:14666095-14666597	GM12878	blood:	n/a	n/a
5	ATF2	chr5:14663721-14664765	GM12878	blood:	n/a	n/a
6	ATF3	chr5:14664343-14664885	K562	blood:	n/a	chr5:14664784-14664804
7	ATF3	chr5:14664495-14664880	A549	lung:	n/a	chr5:14664784-14664804
8	BACH1	chr5:14664715-14664915	K562	blood:	n/a	n/a
9	BACH1	chr5:14664379-14665689	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL3	chr5:14664157-14664883	A549	lung:	n/a	chr5:14664655-14664668 chr5:14664626-14664639 chr5:14664393-14664402 chr5:14664622-14664635
11	BCLAF1	chr5:14663727-14665699	GM12878	blood:	n/a	chr5:14664655-14664668 chr5:14664626-14664639 chr5:14664393-14664402 chr5:14664622-14664635
12	BCLAF1	chr5:14665973-14666504	GM12878	blood:	n/a	n/a
13	BCLAF1	chr5:14663776-14665079	GM12878	blood:	n/a	chr5:14664655-14664668 chr5:14664626-14664639 chr5:14664393-14664402 chr5:14664622-14664635
14	BCLAF1	chr5:14666035-14666494	GM12878	blood:	n/a	n/a
15	BHLHE40	chr5:14664101-14665031	K562	blood:	n/a	chr5:14664652-14664668
16	BHLHE40	chr5:14666009-14666468	HepG2	liver:	n/a	n/a
17	BHLHE40	chr5:14665242-14666887	GM12878	blood:	n/a	n/a
18	BHLHE40	chr5:14664029-14665027	GM12878	blood:	n/a	chr5:14664652-14664668
19	BHLHE40	chr5:14666091-14666413	A549	lung:	n/a	n/a
20	BHLHE40	chr5:14666004-14666684	K562	blood:	n/a	n/a
21	BHLHE40	chr5:14664233-14664949	HepG2	liver:	n/a	chr5:14664652-14664668
22	BHLHE40	chr5:14665254-14665673	K562	blood:	n/a	n/a
23	BRCA1	chr5:14663757-14664910	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr5:14664414-14664747	GM12878	blood:	n/a	n/a
25	BRCA1	chr5:14664191-14664537	H1-hESC	embryonic stem cell:	n/a	n/a
26	BRCA1	chr5:14664447-14664954	HepG2	liver:	n/a	n/a
27	CBX3	chr5:14664248-14664997	K562	blood:	n/a	n/a
28	CBX3	chr5:14666067-14666479	K562	blood:	n/a	n/a
29	CCNT2	chr5:14664031-14665452	K562	blood:	n/a	chr5:14665153-14665162 chr5:14664291-14664300
30	CEBPB	chr5:14664328-14664555	HepG2	liver:	n/a	n/a
31	CEBPB	chr5:14664386-14664910	ECC-1	luminal epithelium:	n/a	n/a
32	CEBPB	chr5:14664630-14664636	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr5:14664077-14664870	Hela-S3	cervix:	n/a	n/a
34	CEBPD	chr5:14664417-14664995	HepG2	liver:	n/a	n/a
35	CHD1	chr5:14664137-14664572	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD1	chr5:14665912-14666299	GM12878	blood:	n/a	n/a
37	CHD1	chr5:14665276-14665672	GM12878	blood:	n/a	n/a
38	CHD1	chr5:14665334-14665403	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD1	chr5:14663829-14665056	GM12878	blood:	n/a	n/a
40	CHD2	chr5:14664422-14664939	K562	blood:	n/a	n/a
41	CHD2	chr5:14663994-14665033	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr5:14664461-14664892	HepG2	liver:	n/a	n/a
43	CHD2	chr5:14666082-14666353	GM12878	blood:	n/a	n/a
44	CHD2	chr5:14664306-14664701	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr5:14665347-14665547	Hela-S3	cervix:	n/a	n/a
46	CHD2	chr5:14663825-14664954	GM12878	blood:	n/a	n/a
47	CHD2	chr5:14665397-14665597	GM12878	blood:	n/a	n/a
48	CREB1	chr5:14664222-14665165	HepG2	liver:	n/a	n/a
49	CREB1	chr5:14664264-14665058	K562	blood:	n/a	n/a
50	CREB1	chr5:14664141-14665158	K562	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	chr5:14665570-14665620	U87	brain:	n/a
2	chr5:14665570-14665620	U87	brain:	n/a
3	chr5:14665478-14665528	Jurkat	blood:	n/a
4	chr5:14665478-14665528	PrEC	prostate:	n/a
5	chr5:14664662-14664712	HMEC	breast:	n/a
6	chr5:14665166-14665216	SAEC	small airway:	n/a
7	chr5:14665570-14665620	GM19239	blood:	n/a
8	chr5:14665505-14665555	SK-N-SH_RA	brain:	n/a
9	chr5:14665478-14665528	NB4	blood:	n/a
10	chr5:14664470-14664520	PrEC	prostate:	n/a
11	chr5:14665478-14665528	ProgFib	skin:	n/a
12	chr5:14665166-14665216	NHDF-neo	bronchial:	n/a
13	chr5:14665505-14665555	BE2_C	brain:	n/a
14	chr5:14664662-14664712	HepG2	liver:	n/a
15	chr5:14665570-14665620	HCPEpiC	choroid plexus:	n/a
16	chr5:14665505-14665555	HIPEpiC	eye:	n/a
17	chr5:14665478-14665528	AG04450	lung:	fetal
18	chr5:14664470-14664520	AG04450	lung:	fetal
19	chr5:14665505-14665555	SK-N-MC	brain:	n/a
20	chr5:14664487-14664537	HAEpiC	amniotic membrane:	n/a
21	chr5:14664662-14664712	AG10803	skin:	n/a
22	chr5:14664470-14664520	IMR90	lung:	fetal
23	chr5:14664487-14664537	PANC-1	pancreas:	n/a
24	chr5:14664470-14664520	SAEC	small airway:	n/a
25	chr5:14665592-14665642	LNCaP	prostate:	n/a
26	chr5:14665570-14665620	SAEC	small airway:	n/a
27	chr5:14665478-14665528	AG10803	skin:	n/a
28	chr5:14665478-14665528	ovcar-3	ovarian:	n/a
29	chr5:14665570-14665620	Caco-2	colon:	n/a
30	chr5:14664470-14664520	SKMC	muscle:	n/a
31	chr5:14665592-14665642	IMR90	lung:	fetal
32	chr5:14665570-14665620	HRPEpiC	eye:	n/a
33	chr5:14665570-14665620	HEEpiC	esophagus:	n/a
34	chr5:14665166-14665216	AoSMC	blood vessel:	n/a
35	chr5:14665166-14665216	GM12878	blood:	n/a
36	chr5:14665570-14665620	PFSK-1	brain:	n/a
37	chr5:14665166-14665216	BJ	skin:	n/a
38	chr5:14665505-14665555	HCPEpiC	choroid plexus:	n/a
39	chr5:14664470-14664520	HAEpiC	amniotic membrane:	n/a
40	chr5:14664487-14664537	GM06990	blood:	n/a
41	chr5:14664470-14664520	Hepatocyte	liver:	n/a
42	chr5:14665570-14665620	Hela-S3	cervix:	n/a
43	chr5:14665570-14665620	HAEpiC	amniotic membrane:	n/a
44	chr5:14664470-14664520	HRCEpiC	kidney:	n/a
45	chr5:14665592-14665642	HCF	heart:	n/a
46	chr5:14665505-14665555	ProgFib	skin:	n/a
47	chr5:14665478-14665528	GM19239	blood:	n/a
48	chr5:14665166-14665216	HCPEpiC	choroid plexus:	n/a
49	chr5:14665592-14665642	HL-60	blood:	n/a
50	chr5:14664487-14664537	AoSMC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr19:9938591..9939096-chr5:14664436..14665121,2	Hela-S3	cervix:
2	chr11:124543288..124543836-chr5:14664268..14664773,2	Hela-S3	cervix:
3	chr5:14666421..14668371-chr5:14694301..14697182,2	K562	blood:
4	chr1:176175719..176176397-chr5:14664793..14665438,2	Hela-S3	cervix:
5	chr17:62222968..62223765-chr5:14664311..14665257,2	Hela-S3	cervix:
6	chr10:103824761..103825626-chr5:14664698..14665242,2	Hela-S3	cervix:
7	chr2:75937399..75938318-chr5:14664189..14665128,2	Hela-S3	cervix:
8	chr15:65588332..65589080-chr5:14664136..14664865,2	Hela-S3	cervix:
9	chr5:14664510..14666859-chr5:14666995..14670129,4	MCF-7	breast:
10	chr11:65190115..65190731-chr5:14664107..14664931,2	Hela-S3	cervix:
11	chr1:16482022..16482600-chr5:14664854..14665513,2	Hela-S3	cervix:
12	chr5:14611853..14613930-chr5:14664860..14666930,2	K562	blood:
13	chr12:121837283..121837955-chr5:14664313..14665299,2	Hela-S3	cervix:
14	chr5:14664623..14665342-chr5:89705556..89706261,2	HCT-116	colon:
15	chr5:14663431..14670152-chr5:14672054..14680588,17	K562	blood:
16	chr17:1620010..1621019-chr5:14664271..14665202,3	Hela-S3	cervix:
17	chr5:14664160..14664958-chr5:82372800..82373613,2	Hela-S3	cervix:
18	chr5:14663911..14666053-chr5:14679468..14682192,2	MCF-7	breast:
19	chr5:14143682..14146659-chr5:14664431..14666395,2	MCF-7	breast:
20	chr19:39935648..39936578-chr5:14664034..14664744,2	Hela-S3	cervix:
21	chr16:56484857..56485398-chr5:14664111..14664803,2	Hela-S3	cervix:
22	chr5:14497930..14500445-chr5:14662848..14665215,2	MCF-7	breast:
23	chr5:14662841..14665118-chr5:14665182..14666841,2	MCF-7	breast:
24	chr1:147806219..147807143-chr5:14664370..14664996,2	Hela-S3	cervix:
25	chr12:125398725..125399588-chr5:14664525..14665354,2	Hela-S3	cervix:
26	chr3:120314958..120315682-chr5:14664161..14664669,2	Hela-S3	cervix:
27	chr2:20101550..20102401-chr5:14664511..14665186,2	Hela-S3	cervix:
28	chr5:14666399..14668895-chr5:14676273..14677945,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKH-1	chr5:14663208-14664704	NONHSAT100548
2	lnc-ANKH-1	chr5:14664543-14664682	ENSG00000261360.1

No data

Variant related genes	Relation type
ENSG00000261360	TF binding region
FAM105B	TF binding region
ENSG00000261360	CpG island
FAM105B	CpG island
ENSG00000199753	chromatin interactions
ENSG00000005436	chromatin interactions
ENSG00000150991	chromatin interactions
ENSG00000110013	chromatin interactions
ENSG00000271991	chromatin interactions
ENSG00000261360	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000143207	chromatin interactions
ENSG00000170633	chromatin interactions
ENSG00000202408	chromatin interactions
ENSG00000167005	chromatin interactions
ENSG00000154124	chromatin interactions
ENSG00000255647	chromatin interactions
ENSG00000089053	chromatin interactions
ENSG00000065518	chromatin interactions
ENSG00000196235	chromatin interactions
ENSG00000174695	chromatin interactions
ENSG00000038382	chromatin interactions
ENSG00000166189	chromatin interactions
ENSG00000152422	chromatin interactions
ENSG00000186594	chromatin interactions
ENSG00000199568	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000064199	chromatin interactions
ENSG00000142627	chromatin interactions
ENSG00000153140	chromatin interactions
ENSG00000198258	chromatin interactions
ENSG00000183891	chromatin interactions

Extended variants
information (count: 124 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116174943	chr5:14664538-14664539	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
2	rs575691288	chr5:14664540-14664541	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
3	rs543216023	chr5:14664558-14664559	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
4	rs376557263	chr5:14664567-14664568	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
5	rs555114540	chr5:14664577-14664578	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
6	rs573866185	chr5:14664584-14664585	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
7	rs541300140	chr5:14664594-14664595	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
8	rs560311517	chr5:14664617-14664618	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
9	rs76130764	chr5:14664619-14664620	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
10	rs546180463	chr5:14664642-14664643	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	26 gene(s)	Overlapped CNVs	n/a
11	rs564576296	chr5:14664645-14664646	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	26 gene(s)	Overlapped CNVs	n/a
12	rs116232944	chr5:14664648-14664649	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	26 gene(s)	Overlapped CNVs	n/a
13	rs550415842	chr5:14664649-14664650	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	26 gene(s)	Overlapped CNVs	n/a
14	rs568624720	chr5:14664680-14664681	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
15	rs529588119	chr5:14664684-14664685	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
16	rs180675044	chr5:14664687-14664688	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
17	rs565581363	chr5:14664691-14664692	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
18	rs183681	chr5:14664695-14664696	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs557283210	chr5:14664697-14664698	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
20	rs569434328	chr5:14664706-14664707	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
21	rs575210540	chr5:14664712-14664713	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
22	rs540630461	chr5:14664713-14664714	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
23	rs542201692	chr5:14664738-14664739	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
24	rs185238302	chr5:14664748-14664749	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
25	rs188541468	chr5:14664751-14664752	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
26	rs559416336	chr5:14664752-14664753	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
27	rs553220872	chr5:14664763-14664764	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
28	rs577815482	chr5:14664767-14664768	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
29	rs546243572	chr5:14664790-14664791	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
30	rs250435	chr5:14664821-14664822	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	23 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs181297196	chr5:14664833-14664834	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
32	rs560512097	chr5:14664838-14664839	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
33	rs562191870	chr5:14664839-14664840	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
34	rs529481495	chr5:14664859-14664860	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
35	rs547635670	chr5:14664869-14664870	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
36	rs562825993	chr5:14664871-14664872	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
37	rs117369308	chr5:14664879-14664880	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
38	rs533416640	chr5:14664888-14664889	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
39	rs371286300	chr5:14664901-14664902	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
40	rs550978022	chr5:14664928-14664929	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
41	rs569291350	chr5:14664979-14664980	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
42	rs139848059	chr5:14664988-14664989	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
43	rs549057707	chr5:14664991-14664992	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
44	rs199656228	chr5:14664996-14664997	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
45	rs567388578	chr5:14664998-14664999	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
46	rs534822150	chr5:14665037-14665038	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
47	rs552866272	chr5:14665063-14665064	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
48	rs535246159	chr5:14665098-14665099	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
49	rs577887208	chr5:14665138-14665139	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
50	rs113435226	chr5:14665179-14665180	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:485 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14663400-14665600	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr5:14663400-14665800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:14663400-14665800	Active TSS	A549	lung
4	chr5:14663600-14664600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr5:14663600-14664600	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr5:14663600-14664600	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr5:14663600-14664600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:14663600-14664600	Flanking Active TSS	Hela-S3	cervix
9	chr5:14663600-14665200	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr5:14663600-14665400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:14663600-14665600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:14663600-14666000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:14663600-14666000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:14663600-14666000	Active TSS	NHLF	lung
15	chr5:14663600-14666200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr5:14663600-14666200	Active TSS	GM12878-XiMat	blood
17	chr5:14663800-14664600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:14663800-14664600	Flanking Active TSS	Fetal Brain Male	brain
19	chr5:14663800-14664600	Flanking Active TSS	Fetal Muscle Trunk	muscle
20	chr5:14663800-14665200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr5:14663800-14665400	Active TSS	Fetal Lung	lung
22	chr5:14663800-14665600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:14663800-14665600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:14663800-14665600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr5:14663800-14665600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:14663800-14665800	Active TSS	H9 Cell Line	embryonic stem cell
27	chr5:14663800-14665800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:14663800-14665800	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr5:14663800-14665800	Active TSS	Colon Smooth Muscle	Colon
30	chr5:14663800-14665800	Active TSS	Esophagus	oesophagus
31	chr5:14663800-14665800	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr5:14663800-14665800	Active TSS	Small Intestine	intestine
33	chr5:14663800-14665800	Active TSS	Stomach Mucosa	stomach
34	chr5:14663800-14665800	Active TSS	HSMMtube	muscle
35	chr5:14663800-14666000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr5:14663800-14666000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:14663800-14666000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:14663800-14666000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:14663800-14666000	Active TSS	Colonic Mucosa	Colon
40	chr5:14663800-14666000	Active TSS	Left Ventricle	heart
41	chr5:14663800-14666000	Active TSS	Psoas Muscle	Psoas
42	chr5:14663800-14666000	Active TSS	NHDF-Ad	bronchial
43	chr5:14663800-14666200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:14663800-14666200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr5:14663800-14666200	Active TSS	Aorta	Aorta
46	chr5:14663800-14666200	Active TSS	Lung	lung
47	chr5:14663800-14666200	Active TSS	Ovary	ovary
48	chr5:14663800-14666200	Active TSS	HMEC	breast
49	chr5:14663800-14666600	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr5:14664000-14665000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--

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