Variant report

Variant	esv3405704
Chromosome Location	chr6:132270884-132273432
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:693)
CpG islands
(count:733)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:693 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:132271698-132271898	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:132272272-132272972	HepG2	liver:	n/a	n/a
3	ATF2	chr6:132272150-132273035	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr6:132269759-132270898	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr6:132267511-132273178	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr6:132270954-132271928	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr6:132272339-132272905	A549	lung:	n/a	chr6:132272438-132272451
8	BHLHE40	chr6:132270994-132272863	HepG2	liver:	n/a	chr6:132272436-132272452 chr6:132271793-132271809
9	BRCA1	chr6:132272265-132272711	HepG2	liver:	n/a	n/a
10	BRCA1	chr6:132271457-132271826	HepG2	liver:	n/a	n/a
11	BRCA1	chr6:132270818-132271214	H1-hESC	embryonic stem cell:	n/a	n/a
12	BRCA1	chr6:132272452-132273013	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr6:132271366-132271413	GM12878	blood:	n/a	n/a
14	BRCA1	chr6:132270799-132271151	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr6:132270690-132271165	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr6:132272370-132272804	A549	lung:	n/a	n/a
17	CEBPB	chr6:132272344-132272813	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr6:132272443-132272729	HepG2	liver:	n/a	n/a
19	CEBPB	chr6:132272370-132272633	HepG2	liver:	n/a	n/a
20	CEBPB	chr6:132271594-132271919	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr6:132269914-132271706	IMR90	lung:	n/a	n/a
22	CEBPD	chr6:132272134-132272792	HepG2	liver:	n/a	n/a
23	CEBPD	chr6:132272162-132272793	HepG2	liver:	n/a	n/a
24	CEBPD	chr6:132271630-132272097	HepG2	liver:	n/a	n/a
25	CHD1	chr6:132269408-132273163	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD1	chr6:132266417-132273369	IMR90	lung:	n/a	n/a
27	CHD2	chr6:132267213-132272030	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr6:132272319-132272795	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr6:132270746-132271081	Hela-S3	cervix:	n/a	n/a
30	CHD2	chr6:132272297-132273078	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr6:132270879-132272766	HepG2	liver:	n/a	n/a
32	CREB1	chr6:132270894-132272928	HepG2	liver:	n/a	n/a
33	CREB1	chr6:132270746-132272036	H1-hESC	embryonic stem cell:	n/a	n/a
34	CREB1	chr6:132271703-132272763	A549	lung:	n/a	n/a
35	CREB1	chr6:132271249-132271667	A549	lung:	n/a	n/a
36	CREB1	chr6:132271318-132272830	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTBP2	chr6:132271088-132272822	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr6:132271102-132271204	LNCaP	prostate:	n/a	n/a
39	CTCF	chr6:132271060-132271210	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr6:132271480-132271630	HEEpiC	esophagus:	n/a	n/a
41	CTCF	chr6:132271300-132271450	BE2_C	brain:	n/a	n/a
42	CTCF	chr6:132271040-132271190	HPF	lung:	n/a	n/a
43	CTCF	chr6:132271760-132271910	GM12872	blood:	n/a	chr6:132271779-132271797 chr6:132271782-132271795
44	CTCF	chr6:132271040-132271190	AG10803	skin:	n/a	n/a
45	CTCF	chr6:132271680-132271830	AG04450	lung:	n/a	chr6:132271779-132271797 chr6:132271782-132271795
46	CTCF	chr6:132270913-132271460	MCF-7	breast:	n/a	n/a
47	CTCF	chr6:132271706-132271837	GM19240	blood:	n/a	chr6:132271779-132271797 chr6:132271782-132271795
48	CTCF	chr6:132271448-132271966	MCF-7	breast:	n/a	chr6:132271779-132271797 chr6:132271782-132271795
49	CTCF	chr6:132271740-132271890	HAc	cerebellar:	n/a	chr6:132271779-132271797 chr6:132271782-132271795
50	CTCF	chr6:132270960-132271110	AG09309	skin:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:132271588-132271638	BE2_C	brain:	n/a
2	chr6:132271588-132271638	BE2_C	brain:	n/a
3	chr6:132272342-132272392	NB4	blood:	n/a
4	chr6:132271588-132271638	BJ	skin:	n/a
5	chr6:132273157-132273207	U87	brain:	n/a
6	chr6:132272560-132272610	NB4	blood:	n/a
7	chr6:132271548-132271598	BJ	skin:	n/a
8	chr6:132271361-132271411	MCF10A-Er-Src	breast:	n/a
9	chr6:132272609-132272659	SK-N-MC	brain:	n/a
10	chr6:132272790-132272840	MCF10A-Er-Src	breast:	n/a
11	chr6:132271588-132271638	HepG2	liver:	n/a
12	chr6:132271361-132271411	K562	blood:	n/a
13	chr6:132272560-132272610	HUVEC	blood vessel:	n/a
14	chr6:132272408-132272458	MCF-7	breast:	n/a
15	chr6:132272545-132272595	HEK293	kidney:	embryo
16	chr6:132273126-132273176	Hela-S3	cervix:	n/a
17	chr6:132272560-132272610	HPAEpiC	pulmonary alveolar:	n/a
18	chr6:132272342-132272392	BE2_C	brain:	n/a
19	chr6:132271548-132271598	SK-N-MC	brain:	n/a
20	chr6:132272609-132272659	NB4	blood:	n/a
21	chr6:132271971-132272021	ProgFib	skin:	n/a
22	chr6:132272408-132272458	AG09319	gingival:	n/a
23	chr6:132271971-132272021	NH-A	brain:	n/a
24	chr6:132272560-132272610	AG10803	skin:	n/a
25	chr6:132272560-132272610	HEK293	kidney:	embryo
26	chr6:132272609-132272659	AG04449	skin:	fetal
27	chr6:132271588-132271638	K562	blood:	n/a
28	chr6:132272560-132272610	LNCaP	prostate:	n/a
29	chr6:132272560-132272610	A549	lung:	n/a
30	chr6:132272560-132272610	ECC-1	luminal epithelium:	n/a
31	chr6:132273126-132273176	Hepatocyte	liver:	n/a
32	chr6:132271361-132271411	PrEC	prostate:	n/a
33	chr6:132272408-132272458	HRPEpiC	eye:	n/a
34	chr6:132272342-132272392	HIPEpiC	eye:	n/a
35	chr6:132272790-132272840	PFSK-1	brain:	n/a
36	chr6:132271971-132272021	A549	lung:	n/a
37	chr6:132272545-132272595	AG04450	lung:	fetal
38	chr6:132273126-132273176	Jurkat	blood:	n/a
39	chr6:132272560-132272610	AoSMC	blood vessel:	n/a
40	chr6:132272609-132272659	HRCEpiC	kidney:	n/a
41	chr6:132272609-132272659	CMK	blood:	n/a
42	chr6:132273126-132273176	HEK293	kidney:	embryo
43	chr6:132272408-132272458	HRE	kidney:	n/a
44	chr6:132271971-132272021	HPAEpiC	pulmonary alveolar:	n/a
45	chr6:132272545-132272595	PFSK-1	brain:	n/a
46	chr6:132273126-132273176	GM12891	blood:	n/a
47	chr6:132272609-132272659	HCM	heart:	n/a
48	chr6:132272408-132272458	Hepatocyte	liver:	n/a
49	chr6:132272545-132272595	SK-N-MC	brain:	n/a
50	chr6:132272545-132272595	U87	brain:	n/a

(count:7 , 50 per page) page: 1

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

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ENPP1-2	chr6:132272086-132272394	ENSG00000227220.1

No data

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

Extended variants
information (count: 113 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	rs369338147	chr6:132271164-132271165	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
10	rs112570712	chr6:132271182-132271183	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
11	rs142873474	chr6:132271197-132271198	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
12	rs187658120	chr6:132271220-132271221	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs566555616	chr6:132271255-132271256	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs565153897	chr6:132271265-132271266	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs200704146	chr6:132271270-132271271	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs377016886	chr6:132271305-132271306	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs370975478	chr6:132271316-132271317	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs373920181	chr6:132271331-132271332	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs376542168	chr6:132271336-132271337	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs532496398	chr6:132271362-132271363	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs561942251	chr6:132271367-132271368	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs376386880	chr6:132271382-132271383	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs9654640	chr6:132271394-132271395	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs56033820	chr6:132271397-132271398	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs147441296	chr6:132271453-132271454	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs139453995	chr6:132271472-132271473	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs149458957	chr6:132271499-132271500	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs559451080	chr6:132271568-132271569	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs532894409	chr6:132271569-132271570	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs374374828	chr6:132271573-132271574	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs199632685	chr6:132271578-132271579	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs545620170	chr6:132271583-132271584	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs377410159	chr6:132271589-132271590	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs367954777	chr6:132271613-132271614	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs34385143	chr6:132271620-132271621	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs148642894	chr6:132271657-132271658	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs562990573	chr6:132271669-132271670	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs45488997	chr6:132271689-132271690	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs201888875	chr6:132271697-132271698	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs201855649	chr6:132271707-132271708	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs199557030	chr6:132271714-132271715	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs536116140	chr6:132271721-132271722	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs547680313	chr6:132271737-132271738	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs73779160	chr6:132271740-132271741	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs112682825	chr6:132271761-132271762	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs558280868	chr6:132271770-132271771	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs576535778	chr6:132271791-132271792	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs34664852	chr6:132271812-132271813	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs36015056	chr6:132271816-132271817	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs569804142	chr6:132271868-132271869	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	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:458 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132259200-132271000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:132259400-132271000	Weak transcription	Liver	Liver
3	chr6:132260000-132271000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:132268200-132271800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
5	chr6:132268400-132271800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:132269000-132271800	Transcr. at gene 5' and 3'	NH-A	brain
7	chr6:132269400-132271000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:132269400-132271000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:132269400-132271000	Active TSS	Duodenum Mucosa	Duodenum
10	chr6:132269400-132271000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
11	chr6:132269400-132271200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:132269400-132271400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:132269400-132271400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
14	chr6:132269400-132271400	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
15	chr6:132269400-132271400	Transcr. at gene 5' and 3'	A549	lung
16	chr6:132269400-132271600	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
17	chr6:132269400-132271600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:132269400-132271800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:132269400-132271800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
20	chr6:132269400-132271800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:132269400-132271800	Transcr. at gene 5' and 3'	HUVEC	blood vessel
22	chr6:132269400-132272000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:132269400-132272000	Enhancers	Hela-S3	cervix
24	chr6:132269400-132273000	Active TSS	Ovary	ovary
25	chr6:132269600-132271200	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
26	chr6:132269600-132271400	Enhancers	Placenta Amnion	Placenta Amnion
27	chr6:132269600-132271600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
28	chr6:132269600-132271600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
29	chr6:132269800-132271000	Active TSS	Fetal Muscle Trunk	muscle
30	chr6:132269800-132271000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
31	chr6:132269800-132271200	Active TSS	Brain Angular Gyrus	brain
32	chr6:132269800-132271200	Active TSS	Pancreas	Pancrea
33	chr6:132269800-132271400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:132269800-132271400	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
35	chr6:132269800-132271600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:132269800-132271600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:132269800-132271600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
38	chr6:132269800-132271800	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
39	chr6:132269800-132271800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
40	chr6:132269800-132271800	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr6:132269800-132271800	Flanking Active TSS	Fetal Heart	heart
42	chr6:132269800-132271800	Transcr. at gene 5' and 3'	HepG2	liver
43	chr6:132269800-132271800	Transcr. at gene 5' and 3'	NHLF	lung
44	chr6:132269800-132272800	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr6:132269800-132272800	Active TSS	Psoas Muscle	Psoas
46	chr6:132270000-132271000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:132270000-132271000	Active TSS	Brain Substantia Nigra	brain
48	chr6:132270000-132271200	Active TSS	Colonic Mucosa	Colon
49	chr6:132270000-132271200	Transcr. at gene 5' and 3'	NHEK	skin
50	chr6:132270000-132271400	Active TSS	Left Ventricle	heart

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