Variant report

Variant	esv3339290
Chromosome Location	chr6:144327784-144330832
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:246)
CpG islands
(count:1468)
Chromatin interactive
region (count:12)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:246 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr6:144327872-144328193	K562	blood:	n/a	n/a
2	ATF3	chr6:144327814-144328153	K562	blood:	n/a	n/a
3	ATF3	chr6:144329435-144329637	K562	blood:	n/a	n/a
4	BHLHE40	chr6:144329557-144329608	GM12878	blood:	n/a	n/a
5	BHLHE40	chr6:144329301-144329697	K562	blood:	n/a	n/a
6	BHLHE40	chr6:144329488-144330049	HepG2	liver:	n/a	n/a
7	CBX3	chr6:144329322-144329738	K562	blood:	n/a	n/a
8	CCNT2	chr6:144328917-144329845	K562	blood:	n/a	n/a
9	CHD1	chr6:144327419-144329527	IMR90	lung:	n/a	n/a
10	CTCF	chr6:144329560-144329710	GM12867	blood:	n/a	n/a
11	CTCF	chr6:144329580-144329730	GM12868	blood:	n/a	n/a
12	CTCF	chr6:144329220-144329370	GM12865	blood:	n/a	n/a
13	E2F4	chr6:144329419-144329421	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F4	chr6:144329958-144330057	MCF10A-Er-Src	breast:	n/a	n/a
15	E2F4	chr6:144328881-144328919	MCF10A-Er-Src	breast:	n/a	n/a
16	E2F6	chr6:144328942-144329829	K562	blood:	n/a	chr6:144329479-144329487
17	E2F6	chr6:144329331-144329610	K562	blood:	n/a	chr6:144329479-144329487
18	E2F6	chr6:144329194-144329684	A549	lung:	n/a	chr6:144329479-144329487
19	E2F6	chr6:144328958-144329746	K562	blood:	n/a	chr6:144329479-144329487
20	EGR1	chr6:144328302-144328531	K562	blood:	n/a	n/a
21	EGR1	chr6:144329311-144329737	K562	blood:	n/a	chr6:144329585-144329599
22	EGR1	chr6:144329479-144329668	GM12878	blood:	n/a	chr6:144329585-144329599
23	EGR1	chr6:144329426-144329733	K562	blood:	n/a	chr6:144329585-144329599
24	EGR1	chr6:144328257-144328524	K562	blood:	n/a	n/a
25	ELF1	chr6:144329256-144329750	GM12878	blood:	n/a	n/a
26	FOS	chr6:144327773-144328322	MCF10A-Er-Src	breast:	n/a	chr6:144327947-144327958
27	FOS	chr6:144327836-144328291	HUVEC	blood vessel:	n/a	chr6:144327947-144327958
28	FOS	chr6:144327696-144328118	MCF10A-Er-Src	breast:	n/a	chr6:144327947-144327958
29	FOS	chr6:144327797-144328121	MCF10A-Er-Src	breast:	n/a	chr6:144327947-144327958
30	FOS	chr6:144327774-144328313	MCF10A-Er-Src	breast:	n/a	chr6:144327947-144327958
31	FOSL2	chr6:144327656-144328196	A549	lung:	n/a	n/a
32	GATA1	chr6:144327650-144328985	PBDE	blood:	n/a	n/a
33	GATA2	chr6:144328262-144329095	SH-SY5Y	brain:	n/a	n/a
34	GATA2	chr6:144328117-144329014	HUVEC	blood vessel:	n/a	n/a
35	GTF2F1	chr6:144329314-144329481	K562	blood:	n/a	n/a
36	HCFC1	chr6:144329285-144329538	K562	blood:	n/a	n/a
37	HEY1	chr6:144329107-144329639	K562	blood:	n/a	n/a
38	HEY1	chr6:144328923-144329603	K562	blood:	n/a	n/a
39	HMGN3	chr6:144328932-144329905	K562	blood:	n/a	n/a
40	IRF1	chr6:144329369-144329537	K562	blood:	n/a	n/a
41	JUN	chr6:144327834-144328059	HepG2	liver:	n/a	chr6:144327972-144327985
42	JUN	chr6:144327804-144328133	HUVEC	blood vessel:	n/a	chr6:144327972-144327985
43	JUN	chr6:144327790-144328106	K562	blood:	n/a	chr6:144327972-144327985
44	JUND	chr6:144327666-144328519	K562	blood:	n/a	chr6:144327947-144327958
45	JUND	chr6:144327649-144328596	SK-N-SH	brain:	n/a	chr6:144327947-144327958
46	JUND	chr6:144327779-144328213	Hela-S3	cervix:	n/a	chr6:144327947-144327958
47	JUND	chr6:144327778-144328127	HepG2	liver:	n/a	chr6:144327947-144327958
48	JUND	chr6:144329353-144329455	K562	blood:	n/a	n/a
49	KAP1	chr6:144329139-144330282	HEK293	kidney:	n/a	n/a
50	KAP1	chr6:144327838-144328778	U2OS	brain:	n/a	n/a

(count:1468 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:144329922-144329972	NHBE	bronchial:	n/a
2	chr6:144329382-144329432	RPTEC	kidney:	n/a
3	chr6:144329922-144329972	NT2-D1	testis:	n/a
4	chr6:144329922-144329972	Jurkat	blood:	n/a
5	chr6:144329922-144329972	NHBE	bronchial:	n/a
6	chr6:144329382-144329432	RPTEC	kidney:	n/a
7	chr6:144329922-144329972	NT2-D1	testis:	n/a
8	chr6:144329922-144329972	Jurkat	blood:	n/a
9	chr6:144328917-144328967	Hela-S3	cervix:	n/a
10	chr6:144330345-144330395	PFSK-1	brain:	n/a
11	chr6:144329331-144329381	PANC-1	pancreas:	n/a
12	chr6:144330162-144330212	SK-N-SH_RA	brain:	n/a
13	chr6:144329789-144329839	HNPCEpiC	eye:	n/a
14	chr6:144329331-144329381	HIPEpiC	eye:	n/a
15	chr6:144329052-144329102	HAEpiC	amniotic membrane:	n/a
16	chr6:144329172-144329222	HCPEpiC	choroid plexus:	n/a
17	chr6:144329909-144329959	AG04449	skin:	fetal
18	chr6:144330345-144330395	AoSMC	blood vessel:	n/a
19	chr6:144329829-144329879	AG09319	gingival:	n/a
20	chr6:144329382-144329432	HepG2	liver:	n/a
21	chr6:144329485-144329535	NT2-D1	testis:	n/a
22	chr6:144329780-144329830	H1-hESC	embryonic stem cell:	embryo
23	chr6:144329780-144329830	SKMC	muscle:	n/a
24	chr6:144329382-144329432	HCM	heart:	n/a
25	chr6:144329780-144329830	NB4	blood:	n/a
26	chr6:144329997-144330047	AG04449	skin:	fetal
27	chr6:144329789-144329839	HL-60	blood:	n/a
28	chr6:144329802-144329852	GM12892	blood:	n/a
29	chr6:144328421-144328471	AG04449	skin:	fetal
30	chr6:144329172-144329222	CMK	blood:	n/a
31	chr6:144329172-144329222	Jurkat	blood:	n/a
32	chr6:144329780-144329830	GM12891	blood:	n/a
33	chr6:144329331-144329381	HL-60	blood:	n/a
34	chr6:144329766-144329816	NB4	blood:	n/a
35	chr6:144329997-144330047	SK-N-MC	brain:	n/a
36	chr6:144328482-144328532	HAEpiC	amniotic membrane:	n/a
37	chr6:144329052-144329102	HUVEC	blood vessel:	n/a
38	chr6:144329732-144329782	NT2-D1	testis:	n/a
39	chr6:144329802-144329852	HRE	kidney:	n/a
40	chr6:144329789-144329839	LNCaP	prostate:	n/a
41	chr6:144329172-144329222	LNCaP	prostate:	n/a
42	chr6:144329789-144329839	SK-N-SH_RA	brain:	n/a
43	chr6:144329802-144329852	HUVEC	blood vessel:	n/a
44	chr6:144330162-144330212	NHBE	bronchial:	n/a
45	chr6:144329052-144329102	HEK293	kidney:	embryo
46	chr6:144328482-144328532	HCF	heart:	n/a
47	chr6:144329789-144329839	HUVEC	blood vessel:	n/a
48	chr6:144329802-144329852	PrEC	prostate:	n/a
49	chr6:144329802-144329852	HMEC	breast:	n/a
50	chr6:144329172-144329222	BJ	skin:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:143769099..143771662-chr6:144327770..144329794,2	K562	blood:
2	chr6:144321371..144324041-chr6:144325680..144328312,2	MCF-7	breast:
3	chr11:85195062..85195778-chr6:144328873..144329374,2	HCT-116	colon:
4	chr6:144284653..144286601-chr6:144327499..144329714,2	K562	blood:
5	chr6:143830342..143833743-chr6:144326901..144329456,3	K562	blood:
6	chr6:144284921..144286601-chr6:144327267..144329714,2	K562	blood:
7	chr6:144318653..144320908-chr6:144327115..144329301,2	MCF-7	breast:
8	chr12:54389286..54389956-chr6:144328658..144329549,2	Hela-S3	cervix:
9	chr6:144162988..144165888-chr6:144327569..144329475,4	K562	blood:
10	chr6:144274204..144276778-chr6:144326473..144328934,2	K562	blood:
11	chr6:143824207..143826466-chr6:144327937..144329566,2	K562	blood:
12	chr6:144162948..144166199-chr6:144325900..144330312,6	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SF3B5-2	chr6:144329228-144329255	NONHSAT115368
2	lnc-SF3B5-2	chr6:144325474-144329867	NONHSAT115373

No data

Variant related genes	Relation type
PLAGL1	TF binding region
PLAGL1	CpG island
ENSG00000135521	chromatin interactions
ENSG00000229036	chromatin interactions
ENSG00000250133	chromatin interactions
ENSG00000180806	chromatin interactions
ENSG00000001036	chromatin interactions
ENSG00000223203	chromatin interactions
ENSG00000118495	chromatin interactions

Extended variants
information (count: 82 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143850253	chr6:144327959-144327960	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
2	rs561748169	chr6:144327998-144327999	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
3	rs147234414	chr6:144328003-144328004	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
4	rs77566844	chr6:144328038-144328039	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
5	rs570822572	chr6:144328078-144328079	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
6	rs575161932	chr6:144328120-144328121	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
7	rs536165395	chr6:144328129-144328130	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
8	rs184085125	chr6:144328206-144328207	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
9	rs575601817	chr6:144328215-144328216	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
10	rs143105242	chr6:144328267-144328268	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
11	rs564233848	chr6:144328300-144328301	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
12	rs74968697	chr6:144328326-144328327	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
13	rs540019338	chr6:144328365-144328366	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
14	rs561567714	chr6:144328366-144328367	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
15	rs529142858	chr6:144328368-144328369	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
16	rs550862530	chr6:144328408-144328409	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
17	rs562296792	chr6:144328417-144328418	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
18	rs532938058	chr6:144328495-144328496	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
19	rs551130635	chr6:144328496-144328497	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
20	rs566556921	chr6:144328535-144328536	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
21	rs533903323	chr6:144328536-144328537	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
22	rs144569241	chr6:144328570-144328571	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
23	rs568685211	chr6:144328571-144328572	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
24	rs535732467	chr6:144328580-144328581	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
25	rs557631847	chr6:144328624-144328625	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
26	rs569490803	chr6:144328635-144328636	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
27	rs539805658	chr6:144328649-144328650	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
28	rs73006277	chr6:144328671-144328672	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
29	rs148450783	chr6:144328705-144328706	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
30	rs540346745	chr6:144328749-144328750	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
31	rs2281476	chr6:144328968-144328969	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs573784560	chr6:144328981-144328982	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
33	rs369535317	chr6:144329024-144329025	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
34	rs532760187	chr6:144329046-144329047	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
35	rs546290923	chr6:144329105-144329106	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
36	rs562789456	chr6:144329109-144329110	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
37	rs566517135	chr6:144329131-144329132	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
38	rs533106979	chr6:144329134-144329135	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
39	rs377658881	chr6:144329197-144329198	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
40	rs67300369	chr6:144329263-144329264	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
41	rs113189219	chr6:144329362-144329363	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
42	rs188083405	chr6:144329412-144329413	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
43	rs549107424	chr6:144329444-144329445	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
44	rs568512232	chr6:144329562-144329563	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
45	rs529481417	chr6:144329591-144329592	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
46	rs111938944	chr6:144329612-144329613	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
47	rs569512852	chr6:144329632-144329633	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
48	rs567164800	chr6:144329648-144329649	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
49	rs77574073	chr6:144329672-144329673	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
50	rs180731629	chr6:144329692-144329693	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144325200-144330000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:144326000-144330000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:144326200-144329600	Active TSS	Fetal Muscle Leg	muscle
4	chr6:144326200-144330000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:144326600-144330200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr6:144327200-144327800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:144327200-144328000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:144327200-144329800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:144327200-144329800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
10	chr6:144327200-144329800	Active TSS	Fetal Intestine Large	intestine
11	chr6:144327200-144329800	Active TSS	Fetal Muscle Trunk	muscle
12	chr6:144327200-144329800	Active TSS	Fetal Stomach	stomach
13	chr6:144327200-144329800	Active TSS	K562	blood
14	chr6:144327200-144329800	Active TSS	NHLF	lung
15	chr6:144327200-144330000	Active TSS	Stomach Smooth Muscle	stomach
16	chr6:144327200-144330000	Active TSS	NHDF-Ad	bronchial
17	chr6:144327400-144327800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr6:144327400-144327800	Flanking Active TSS	Fetal Intestine Small	intestine
19	chr6:144327400-144327800	Flanking Active TSS	Hela-S3	cervix
20	chr6:144327400-144327800	Flanking Active TSS	HMEC	breast
21	chr6:144327400-144327800	Flanking Active TSS	HUVEC	blood vessel
22	chr6:144327400-144327800	Flanking Active TSS	NH-A	brain
23	chr6:144327400-144327800	Flanking Active TSS	Osteobl	bone
24	chr6:144327400-144328000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:144327400-144328000	Enhancers	Fetal Heart	heart
26	chr6:144327400-144328200	Enhancers	Fetal Thymus	thymus
27	chr6:144327400-144329000	Active TSS	Placenta	Placenta
28	chr6:144327400-144329400	Active TSS	Colon Smooth Muscle	Colon
29	chr6:144327400-144329600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:144327400-144329600	Active TSS	Colonic Mucosa	Colon
31	chr6:144327400-144329800	Active TSS	Left Ventricle	heart
32	chr6:144327400-144329800	Active TSS	HSMMtube	muscle
33	chr6:144327400-144330000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
34	chr6:144327400-144330000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:144327400-144330000	Active TSS	Aorta	Aorta
36	chr6:144327400-144330000	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr6:144327400-144330000	Active TSS	Fetal Brain Female	brain
38	chr6:144327400-144330000	Active TSS	Fetal Lung	lung
39	chr6:144327400-144330000	Active TSS	Ovary	ovary
40	chr6:144327400-144330000	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr6:144327400-144330000	Active TSS	Right Atrium	heart
42	chr6:144327400-144330000	Active TSS	A549	lung
43	chr6:144327400-144330000	Active TSS	HSMM	muscle
44	chr6:144327400-144330000	Active TSS	NHEK	skin
45	chr6:144327400-144330200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
46	chr6:144327400-144330200	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr6:144327400-144330200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:144327400-144330200	Active TSS	Fetal Kidney	kidney
49	chr6:144327600-144327800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:144327600-144327800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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