Variant report

Variant	esv3398326
Chromosome Location	chr6:132269959-132274257
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:761)
CpG islands
(count:854)
Chromatin interactive
region (count:10)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:761 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:132272272-132272972	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:132267673-132270307	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:132271698-132271898	HepG2	liver:	n/a	n/a
4	ATF2	chr6:132272150-132273035	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr6:132269759-132270898	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr6:132270954-132271928	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr6:132267511-132273178	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL3	chr6:132272339-132272905	A549	lung:	n/a	chr6:132272438-132272451
9	BHLHE40	chr6:132270994-132272863	HepG2	liver:	n/a	chr6:132272436-132272452 chr6:132271793-132271809
10	BRCA1	chr6:132272265-132272711	HepG2	liver:	n/a	n/a
11	BRCA1	chr6:132270492-132270662	HepG2	liver:	n/a	n/a
12	BRCA1	chr6:132271366-132271413	GM12878	blood:	n/a	n/a
13	BRCA1	chr6:132270799-132271151	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr6:132272452-132273013	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr6:132270818-132271214	H1-hESC	embryonic stem cell:	n/a	n/a
16	BRCA1	chr6:132271457-132271826	HepG2	liver:	n/a	n/a
17	CEBPB	chr6:132269914-132271706	IMR90	lung:	n/a	n/a
18	CEBPB	chr6:132272344-132272813	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr6:132270690-132271165	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr6:132271594-132271919	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr6:132272370-132272633	HepG2	liver:	n/a	n/a
22	CEBPB	chr6:132272443-132272729	HepG2	liver:	n/a	n/a
23	CEBPB	chr6:132272370-132272804	A549	lung:	n/a	n/a
24	CEBPD	chr6:132272134-132272792	HepG2	liver:	n/a	n/a
25	CEBPD	chr6:132271630-132272097	HepG2	liver:	n/a	n/a
26	CEBPD	chr6:132272162-132272793	HepG2	liver:	n/a	n/a
27	CHD1	chr6:132266417-132273369	IMR90	lung:	n/a	n/a
28	CHD1	chr6:132269408-132273163	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr6:132272319-132272795	Hela-S3	cervix:	n/a	n/a
30	CHD2	chr6:132269796-132270636	HepG2	liver:	n/a	n/a
31	CHD2	chr6:132270879-132272766	HepG2	liver:	n/a	n/a
32	CHD2	chr6:132267213-132272030	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr6:132272297-132273078	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr6:132270746-132271081	Hela-S3	cervix:	n/a	n/a
35	CREB1	chr6:132269666-132270584	H1-hESC	embryonic stem cell:	n/a	n/a
36	CREB1	chr6:132271703-132272763	A549	lung:	n/a	n/a
37	CREB1	chr6:132270894-132272928	HepG2	liver:	n/a	n/a
38	CREB1	chr6:132271249-132271667	A549	lung:	n/a	n/a
39	CREB1	chr6:132270746-132272036	H1-hESC	embryonic stem cell:	n/a	n/a
40	CREB1	chr6:132271318-132272830	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTBP2	chr6:132271088-132272822	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr6:132271660-132271810	GM12867	blood:	n/a	chr6:132271779-132271797 chr6:132271782-132271795
43	CTCF	chr6:132270840-132270990	NHDF-neo	bronchial:	n/a	n/a
44	CTCF	chr6:132271060-132271210	HRPEpiC	eye:	n/a	n/a
45	CTCF	chr6:132271706-132271837	GM19240	blood:	n/a	chr6:132271779-132271797 chr6:132271782-132271795
46	CTCF	chr6:132271640-132271790	GM12866	blood:	n/a	n/a
47	CTCF	chr6:132271140-132271290	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr6:132271261-132271263	Pancreas_OC	pancreas:	n/a	n/a
49	CTCF	chr6:132269940-132270090	HPAF	blood vessel:	n/a	n/a
50	CTCF	chr6:132269920-132270070	HBMEC	blood vessel:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:132271548-132271598	GM06990	blood:	n/a
2	chr6:132272790-132272840	NB4	blood:	n/a
3	chr6:132272545-132272595	SKMC	muscle:	n/a
4	chr6:132272560-132272610	MCF10A-Er-Src	breast:	n/a
5	chr6:132272560-132272610	HAEpiC	amniotic membrane:	n/a
6	chr6:132273157-132273207	LNCaP	prostate:	n/a
7	chr6:132270526-132270576	MCF-7	breast:	n/a
8	chr6:132272342-132272392	MCF10A-Er-Src	breast:	n/a
9	chr6:132272790-132272840	GM12878	blood:	n/a
10	chr6:132270033-132270083	HRCEpiC	kidney:	n/a
11	chr6:132273126-132273176	U87	brain:	n/a
12	chr6:132272560-132272610	HRCEpiC	kidney:	n/a
13	chr6:132270526-132270576	GM06990	blood:	n/a
14	chr6:132273126-132273176	GM12892	blood:	n/a
15	chr6:132271971-132272021	ProgFib	skin:	n/a
16	chr6:132270033-132270083	ovcar-3	ovarian:	n/a
17	chr6:132272560-132272610	HCM	heart:	n/a
18	chr6:132272560-132272610	SK-N-SH_RA	brain:	n/a
19	chr6:132273126-132273176	GM06990	blood:	n/a
20	chr6:132272560-132272610	NB4	blood:	n/a
21	chr6:132272790-132272840	AG10803	skin:	n/a
22	chr6:132273126-132273176	ECC-1	luminal epithelium:	n/a
23	chr6:132271971-132272021	GM12891	blood:	n/a
24	chr6:132271361-132271411	HRE	kidney:	n/a
25	chr6:132271548-132271598	SK-N-SH_RA	brain:	n/a
26	chr6:132273157-132273207	GM12891	blood:	n/a
27	chr6:132271361-132271411	SK-N-SH	brain:	n/a
28	chr6:132270526-132270576	MCF10A-Er-Src	breast:	n/a
29	chr6:132271971-132272021	PFSK-1	brain:	n/a
30	chr6:132272609-132272659	HRPEpiC	eye:	n/a
31	chr6:132272560-132272610	MCF-7	breast:	n/a
32	chr6:132272408-132272458	HCPEpiC	choroid plexus:	n/a
33	chr6:132270526-132270576	SK-N-SH_RA	brain:	n/a
34	chr6:132272342-132272392	BJ	skin:	n/a
35	chr6:132270033-132270083	A549	lung:	n/a
36	chr6:132271588-132271638	BE2_C	brain:	n/a
37	chr6:132272609-132272659	AoSMC	blood vessel:	n/a
38	chr6:132272408-132272458	RPTEC	kidney:	n/a
39	chr6:132273126-132273176	HNPCEpiC	eye:	n/a
40	chr6:132272408-132272458	IMR90	lung:	fetal
41	chr6:132272408-132272458	HEEpiC	esophagus:	n/a
42	chr6:132271361-132271411	AoSMC	blood vessel:	n/a
43	chr6:132271588-132271638	H1-hESC	embryonic stem cell:	embryo
44	chr6:132270526-132270576	HL-60	blood:	n/a
45	chr6:132272545-132272595	NH-A	brain:	n/a
46	chr6:132272545-132272595	AG09309	skin:	n/a
47	chr6:132272560-132272610	PANC-1	pancreas:	n/a
48	chr6:132273126-132273176	HCT-116	colon:	n/a
49	chr6:132270526-132270576	HCF	heart:	n/a
50	chr6:132270033-132270083	SK-N-MC	brain:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	6:132269655-132282174..6:132434977-132438109	Hela-S3	cervix:
2	chr6:132270712..132271805-chr6:132538854..132539933,3	MCF-7	breast:
3	chr6:132269202..132270908-chr6:132273565..132275106,2	K562	blood:
4	chr6:132267661..132270046-chr6:132272671..132275196,2	MCF-7	breast:
5	chr6:132258659..132260854-chr6:132273707..132276413,2	MCF-7	breast:
6	chr6:132269202..132270908-chr6:132273565..132275106,2	K562	blood:
7	6:132269655-132282174..6:132480387-132483283	H1-hESC	embryonic stem cell:	embryo
8	6:132269655-132282174..6:132402790-132406656	H1-hESC	embryonic stem cell:	embryo
9	6:132269655-132282174..6:132454814-132459405	GM12878	blood:
10	chr6:132267661..132270046-chr6:132272671..132275196,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ENPP1-2	chr6:132272086-132272394	ENSG00000227220.1
2	lnc-ENPP1-5	chr6:132270239-132270363	NONHSAT114934
3	lnc-ENPP1-5	chr6:132270239-132270363	NONHSAT114935

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	CTGF	hsa-miR-26a-5p	chr6:132270360-132270381
2	CTGF	hsa-miR-26a-5p	chr6:132270365-132270359
3	CTGF	hsa-miR-145-5p	chr6:132270366-132270389

Variant related genes	Relation type
ENSG00000227220	TF binding region
CTGF	TF binding region
ENSG00000227220	CpG island
CTGF	CpG island
ENSG00000265669	chromatin interactions
ENSG00000228495	chromatin interactions
ENSG00000236166	chromatin interactions

Extended variants
information (count: 180 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79015632	chr6:132269973-132269974	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs559442060	chr6:132270033-132270034	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs545890596	chr6:132270064-132270065	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs564448955	chr6:132270065-132270066	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs546576061	chr6:132270083-132270084	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs56252526	chr6:132270085-132270086	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs187712624	chr6:132270096-132270097	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs113424938	chr6:132270148-132270149	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs151042092	chr6:132270174-132270175	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs1049548	chr6:132270228-132270229	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs1049546	chr6:132270229-132270230	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs529098183	chr6:132270250-132270251	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
13	rs112940782	chr6:132270328-132270329	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
14	rs547497771	chr6:132270337-132270338	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
15	rs565623911	chr6:132270347-132270348	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
16	rs368503834	chr6:132270379-132270380	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region miRNA target site	5 gene(s)	Overlapped CNVs	n/a
17	rs370307546	chr6:132270396-132270397	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs373467469	chr6:132270417-132270418	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs141279872	chr6:132270419-132270420	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs113027695	chr6:132270424-132270425	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs371266547	chr6:132270441-132270442	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs148327380	chr6:132270456-132270457	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs375918276	chr6:132270521-132270522	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs141716795	chr6:132270522-132270523	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs551092248	chr6:132270527-132270528	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs543282062	chr6:132270538-132270539	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs145997689	chr6:132270560-132270561	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs15960	chr6:132270568-132270569	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs572147432	chr6:132270580-132270581	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs143731769	chr6:132270587-132270588	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs11575	chr6:132270668-132270669	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs138854270	chr6:132270689-132270690	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs368576906	chr6:132270698-132270699	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs201147799	chr6:132270708-132270709	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs542462594	chr6:132270729-132270730	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs546501098	chr6:132270730-132270731	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs398085309	chr6:132270738-132270739	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs398002851	chr6:132270739-132270740	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs556433968	chr6:132270764-132270765	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs531941404	chr6:132270778-132270779	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs113694117	chr6:132270838-132270839	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs192270253	chr6:132270852-132270853	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs183773569	chr6:132270905-132270906	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs111274511	chr6:132270976-132270977	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs398102379	chr6:132270977-132270978	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs372849698	chr6:132271064-132271065	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs375441163	chr6:132271065-132271066	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs140688695	chr6:132271067-132271068	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs374276549	chr6:132271122-132271123	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs376817540	chr6:132271159-132271160	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	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
Ependymoma	16718352	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
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	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
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD

Chromatin state (count:547 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132259200-132271000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:132259400-132270400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:132259400-132271000	Weak transcription	Liver	Liver
4	chr6:132259600-132270000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:132260000-132271000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr6:132266400-132270200	Active TSS	Osteobl	bone
7	chr6:132267200-132270000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:132267800-132270400	Weak transcription	Gastric	stomach
9	chr6:132268000-132270000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:132268000-132270200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:132268200-132270000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:132268200-132271800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
13	chr6:132268400-132271800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:132269000-132271800	Transcr. at gene 5' and 3'	NH-A	brain
15	chr6:132269200-132270000	Active TSS	HSMMtube	muscle
16	chr6:132269200-132270400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:132269400-132270000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
18	chr6:132269400-132270200	Active TSS	Brain Hippocampus Middle	brain
19	chr6:132269400-132270200	Active TSS	Colon Smooth Muscle	Colon
20	chr6:132269400-132270400	ZNF genes & repeats	Fetal Intestine Large	intestine
21	chr6:132269400-132270400	Active TSS	Fetal Intestine Small	intestine
22	chr6:132269400-132270400	Enhancers	Fetal Lung	lung
23	chr6:132269400-132270600	Transcr. at gene 5' and 3'	HMEC	breast
24	chr6:132269400-132270600	Transcr. at gene 5' and 3'	HSMM	muscle
25	chr6:132269400-132271000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:132269400-132271000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:132269400-132271000	Active TSS	Duodenum Mucosa	Duodenum
28	chr6:132269400-132271000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr6:132269400-132271200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:132269400-132271400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:132269400-132271400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
32	chr6:132269400-132271400	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
33	chr6:132269400-132271400	Transcr. at gene 5' and 3'	A549	lung
34	chr6:132269400-132271600	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
35	chr6:132269400-132271600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr6:132269400-132271800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:132269400-132271800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
38	chr6:132269400-132271800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:132269400-132271800	Transcr. at gene 5' and 3'	HUVEC	blood vessel
40	chr6:132269400-132272000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:132269400-132272000	Enhancers	Hela-S3	cervix
42	chr6:132269400-132273000	Active TSS	Ovary	ovary
43	chr6:132269600-132270000	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr6:132269600-132270000	Flanking Active TSS	Rectal Smooth Muscle	rectum
45	chr6:132269600-132271200	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
46	chr6:132269600-132271400	Enhancers	Placenta Amnion	Placenta Amnion
47	chr6:132269600-132271600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
48	chr6:132269600-132271600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
49	chr6:132269800-132270000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr6:132269800-132270000	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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