Variant report

Variant	esv3386669
Chromosome Location	chr7:27168427-27171725
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:327)
CpG islands
(count:1959)
Chromatin interactive
region (count:18)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:327 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:27171211-27171232	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:27169747-27169948	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:27170387-27170832	HepG2	liver:	n/a	n/a
4	ATF3	chr7:27170457-27170634	GM12878	blood:	n/a	chr7:27170556-27170565 chr7:27170549-27170558
5	ATF3	chr7:27170368-27170749	HepG2	liver:	n/a	chr7:27170556-27170565 chr7:27170549-27170558
6	ATF3	chr7:27170355-27170818	H1-hESC	embryonic stem cell:	n/a	chr7:27170556-27170565 chr7:27170549-27170558
7	ATF3	chr7:27170360-27170771	GM12878	blood:	n/a	chr7:27170556-27170565 chr7:27170549-27170558
8	ATF3	chr7:27170448-27170879	HepG2	liver:	n/a	chr7:27170556-27170565 chr7:27170549-27170558
9	ATF3	chr7:27170463-27170795	H1-hESC	embryonic stem cell:	n/a	chr7:27170556-27170565 chr7:27170549-27170558
10	BACH1	chr7:27170493-27170903	H1-hESC	embryonic stem cell:	n/a	n/a
11	BHLHE40	chr7:27170273-27170880	HepG2	liver:	n/a	n/a
12	BRCA1	chr7:27170756-27170901	HepG2	liver:	n/a	n/a
13	CEBPD	chr7:27170377-27170919	HepG2	liver:	n/a	n/a
14	CEBPD	chr7:27169660-27170031	HepG2	liver:	n/a	n/a
15	CHD2	chr7:27169720-27169725	Hela-S3	cervix:	n/a	n/a
16	CHD2	chr7:27170291-27170928	H1-hESC	embryonic stem cell:	n/a	chr7:27170554-27170564
17	CHD2	chr7:27170224-27170858	HepG2	liver:	n/a	chr7:27170554-27170564
18	CHD2	chr7:27170256-27170940	Hela-S3	cervix:	n/a	chr7:27170554-27170564
19	CREB1	chr7:27170190-27171057	HepG2	liver:	n/a	n/a
20	CREB1	chr7:27170419-27170834	A549	lung:	n/a	n/a
21	CTBP2	chr7:27170118-27171082	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr7:27169720-27169870	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr7:27169700-27169850	HA-sp	spinal cord:	n/a	n/a
24	CTCF	chr7:27169720-27169870	HMF	breast:	n/a	n/a
25	CTCF	chr7:27169765-27169868	HUVEC	blood vessel:	n/a	n/a
26	CTCF	chr7:27169680-27169830	GM12864	blood:	n/a	n/a
27	CTCF	chr7:27169740-27169890	WERI-Rb-1	eye:	n/a	n/a
28	CTCF	chr7:27169580-27169730	NHDF-neo	bronchial:	n/a	n/a
29	CTCF	chr7:27169760-27169910	AG10803	skin:	n/a	n/a
30	CTCF	chr7:27169741-27169915	MCF-7	breast:	n/a	n/a
31	CTCF	chr7:27169720-27169870	HL-60	blood:	n/a	n/a
32	CTCF	chr7:27169720-27169870	AoAF	blood vessel:	n/a	n/a
33	CTCF	chr7:27169700-27169850	BJ	skin:	n/a	n/a
34	CTCF	chr7:27169700-27169850	GM12872	blood:	n/a	n/a
35	CTCF	chr7:27169720-27169870	Caco-2	colon:	n/a	n/a
36	CTCF	chr7:27169718-27169957	MCF-7	breast:	n/a	n/a
37	CTCF	chr7:27169620-27169770	HFF	foreskin:	n/a	n/a
38	CTCF	chr7:27169705-27170011	MCF-7	breast:	n/a	n/a
39	CTCF	chr7:27169700-27169850	HPF	lung:	n/a	n/a
40	CTCF	chr7:27169705-27169962	NHEK	skin:	n/a	n/a
41	CTCF	chr7:27169702-27169959	MCF-7	breast:	n/a	n/a
42	CTCF	chr7:27169740-27169890	RPTEC	kidney:	n/a	n/a
43	CTCF	chr7:27169700-27169850	A549	lung:	n/a	n/a
44	CTCF	chr7:27169750-27169751	Lung_OC	lung:	n/a	n/a
45	CTCF	chr7:27170580-27170730	Caco-2	colon:	n/a	n/a
46	CTCF	chr7:27169760-27169910	Caco-2	colon:	n/a	n/a
47	CTCF	chr7:27169740-27169890	GM12869	blood:	n/a	n/a
48	CTCF	chr7:27169720-27169870	HepG2	liver:	n/a	n/a
49	CTCF	chr7:27169640-27169790	MCF-7	breast:	n/a	n/a
50	CTCF	chr7:27169784-27169903	Hela-S3	cervix:	n/a	n/a

(count:1959 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:27170994-27171044	HEEpiC	esophagus:	n/a
2	chr7:27170313-27170363	BE2_C	brain:	n/a
3	chr7:27168780-27168830	NH-A	brain:	n/a
4	chr7:27169957-27170007	CMK	blood:	n/a
5	chr7:27171051-27171101	HNPCEpiC	eye:	n/a
6	chr7:27170994-27171044	ProgFib	skin:	n/a
7	chr7:27169208-27169258	AG09319	gingival:	n/a
8	chr7:27170994-27171044	HEEpiC	esophagus:	n/a
9	chr7:27170313-27170363	BE2_C	brain:	n/a
10	chr7:27168780-27168830	NH-A	brain:	n/a
11	chr7:27169957-27170007	CMK	blood:	n/a
12	chr7:27171051-27171101	HNPCEpiC	eye:	n/a
13	chr7:27170994-27171044	ProgFib	skin:	n/a
14	chr7:27169208-27169258	AG09319	gingival:	n/a
15	chr7:27170554-27170604	SAEC	small airway:	n/a
16	chr7:27171051-27171101	HCM	heart:	n/a
17	chr7:27170832-27170882	ovcar-3	ovarian:	n/a
18	chr7:27170412-27170462	NHBE	bronchial:	n/a
19	chr7:27171391-27171441	HIPEpiC	eye:	n/a
20	chr7:27170394-27170444	BJ	skin:	n/a
21	chr7:27171528-27171578	SKMC	muscle:	n/a
22	chr7:27168688-27168738	PANC-1	pancreas:	n/a
23	chr7:27169068-27169118	ovcar-3	ovarian:	n/a
24	chr7:27170554-27170604	IMR90	lung:	fetal
25	chr7:27168609-27168659	U87	brain:	n/a
26	chr7:27170552-27170602	SKMC	muscle:	n/a
27	chr7:27168962-27169012	HRPEpiC	eye:	n/a
28	chr7:27170552-27170602	RPTEC	kidney:	n/a
29	chr7:27170994-27171044	H1-hESC	embryonic stem cell:	embryo
30	chr7:27170241-27170291	NB4	blood:	n/a
31	chr7:27170994-27171044	T-47D	breast:	n/a
32	chr7:27171203-27171253	SK-N-SH	brain:	n/a
33	chr7:27170394-27170444	Hepatocyte	liver:	n/a
34	chr7:27171401-27171451	NB4	blood:	n/a
35	chr7:27170994-27171044	HMEC	breast:	n/a
36	chr7:27170394-27170444	SK-N-MC	brain:	n/a
37	chr7:27168609-27168659	GM12892	blood:	n/a
38	chr7:27169208-27169258	GM06990	blood:	n/a
39	chr7:27170880-27170930	IMR90	lung:	fetal
40	chr7:27170961-27171011	NHDF-neo	bronchial:	n/a
41	chr7:27169208-27169258	Jurkat	blood:	n/a
42	chr7:27170552-27170602	IMR90	lung:	fetal
43	chr7:27170994-27171044	GM12892	blood:	n/a
44	chr7:27170961-27171011	HCT-116	colon:	n/a
45	chr7:27168688-27168738	HMEC	breast:	n/a
46	chr7:27169136-27169186	HUVEC	blood vessel:	n/a
47	chr7:27170241-27170291	T-47D	breast:	n/a
48	chr7:27170554-27170604	SK-N-SH_RA	brain:	n/a
49	chr7:27170388-27170438	HL-60	blood:	n/a
50	chr7:27168962-27169012	HNPCEpiC	eye:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:27169441..27172151-chr7:27190133..27191991,3	MCF-7	breast:
2	chr7:27170045..27170565-chr8:87526350..87526968,3	MCF-7	breast:
3	chr7:27163696..27168800-chr7:27169622..27172644,4	K562	blood:
4	chr7:27170268..27172208-chr7:27181167..27182998,2	MCF-7	breast:
5	chr7:27164893..27167743-chr7:27169622..27171494,2	K562	blood:
6	chr7:27170859..27172913-chr7:27177037..27178772,2	K562	blood:
7	chr7:26898807..26900434-chr7:27171032..27173228,2	MCF-7	breast:
8	chr7:27163696..27168800-chr7:27169622..27172644,4	K562	blood:
9	chr7:27154191..27156761-chr7:27169805..27172339,2	MCF-7	breast:
10	chr7:26894678..26896550-chr7:27170054..27174548,4	MCF-7	breast:
11	chr7:27161653..27164579-chr7:27169154..27171048,2	MCF-7	breast:
12	chr7:26902248..26905091-chr7:27166314..27168813,2	MCF-7	breast:
13	chr14:55517858..55520148-chr7:27170683..27172278,2	MCF-7	breast:
14	chr7:26902547..26905705-chr7:27166224..27172586,14	MCF-7	breast:
15	chr7:26897524..26906359-chr7:27169396..27177834,18	MCF-7	breast:
16	chr3:186284854..186285731-chr7:27170175..27170751,2	NB4	blood:
17	chr10:99257811..99258591-chr7:27170109..27170609,2	NB4	blood:
18	chr7:26903161..26904431-chr7:27170079..27171250,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EVX1-8	chr7:27169596-27169767	ENSG00000254369

No data

Variant related genes	Relation type
HOXA-AS3	TF binding region
HOXA3	TF binding region
HOXA4	TF binding region
HOXA-AS3	CpG island
HOXA3	CpG island
HOXA4	CpG island
ENSG00000106004	chromatin interactions
ENSG00000176623	chromatin interactions
ENSG00000155229	chromatin interactions
ENSG00000253552	chromatin interactions
ENSG00000106006	chromatin interactions
ENSG00000197576	chromatin interactions
ENSG00000113838	chromatin interactions
ENSG00000105997	chromatin interactions
ENSG00000090520	chromatin interactions
ENSG00000168175	chromatin interactions
ENSG00000005020	chromatin interactions
ENSG00000085719	chromatin interactions
RAPGEF4	miRNA target sites

Extended variants
information (count: 132 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201046786	chr7:27168512-27168513	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs577850386	chr7:27168589-27168590	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs1801085	chr7:27168590-27168591	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
4	rs4722662	chr7:27168719-27168720	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs111256830	chr7:27168723-27168724	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs549413569	chr7:27168729-27168730	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs188097411	chr7:27168744-27168745	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs562740153	chr7:27168768-27168769	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs368828818	chr7:27168814-27168815	Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs531699547	chr7:27168817-27168818	Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs147923565	chr7:27168848-27168849	Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs17500757	chr7:27168858-27168859	Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs571546730	chr7:27168872-27168873	Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs534027729	chr7:27168875-27168876	Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs373599669	chr7:27168877-27168878	Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs201659767	chr7:27168882-27168883	Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs535968108	chr7:27168883-27168884	Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs139808484	chr7:27168896-27168897	Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs200725670	chr7:27168927-27168928	Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs368784267	chr7:27168931-27168932	Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs552955092	chr7:27168937-27168938	Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs199897690	chr7:27168938-27168939	Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs112102841	chr7:27168948-27168949	Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs538230708	chr7:27168953-27168954	Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs375220000	chr7:27168966-27168967	Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs368107858	chr7:27168994-27168995	Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs41305924	chr7:27168999-27169000	Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs1063494	chr7:27169006-27169007	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs191156011	chr7:27169010-27169011	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs371994520	chr7:27169023-27169024	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs558056484	chr7:27169034-27169035	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs200302499	chr7:27169037-27169038	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs200623719	chr7:27169047-27169048	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs6976847	chr7:27169056-27169057	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs577912292	chr7:27169062-27169063	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs540464568	chr7:27169076-27169077	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs374476269	chr7:27169085-27169086	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs2158218	chr7:27169093-27169094	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs199581088	chr7:27169097-27169098	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs538355343	chr7:27169144-27169145	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs145032542	chr7:27169157-27169158	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs542773447	chr7:27169161-27169162	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs562987465	chr7:27169170-27169171	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs531770438	chr7:27169174-27169175	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs41303381	chr7:27169201-27169202	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs374455430	chr7:27169205-27169206	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs181341224	chr7:27169218-27169219	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs145416440	chr7:27169251-27169252	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs527593831	chr7:27169264-27169265	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs547666569	chr7:27169358-27169359	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:451 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27146400-27169600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:27152800-27169400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:27155600-27169400	Weak transcription	Hela-S3	cervix
4	chr7:27156200-27169200	Weak transcription	Osteobl	bone
5	chr7:27162200-27169000	Weak transcription	NHEK	skin
6	chr7:27162600-27169000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:27162600-27169000	Weak transcription	Aorta	Aorta
8	chr7:27162800-27169600	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr7:27163200-27170600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr7:27164200-27169600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:27164400-27169200	Weak transcription	NHDF-Ad	bronchial
12	chr7:27164600-27169000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr7:27164600-27169400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:27164600-27169400	Weak transcription	HMEC	breast
15	chr7:27165000-27169000	Enhancers	HepG2	liver
16	chr7:27165200-27168800	Enhancers	Psoas Muscle	Psoas
17	chr7:27165600-27169200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:27166200-27168600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr7:27166800-27168600	Strong transcription	Primary hematopoietic stem cells	blood
20	chr7:27167000-27169400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:27167600-27169000	Genic enhancers	HUVEC	blood vessel
22	chr7:27167800-27168600	Genic enhancers	Rectal Mucosa Donor 29	rectum
23	chr7:27167800-27169000	Genic enhancers	Rectal Mucosa Donor 31	rectum
24	chr7:27167800-27171000	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr7:27168000-27168600	Weak transcription	A549	lung
26	chr7:27168000-27168800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:27168000-27168800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:27168000-27169000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:27168000-27169000	Enhancers	Adipose Nuclei	Adipose
30	chr7:27168000-27169000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr7:27168000-27169000	Weak transcription	Stomach Mucosa	stomach
32	chr7:27168000-27169000	Enhancers	NHLF	lung
33	chr7:27168000-27169400	Weak transcription	HSMMtube	muscle
34	chr7:27168200-27168800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:27168200-27169000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:27168200-27169000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
37	chr7:27168400-27168800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:27168400-27168800	Enhancers	Colonic Mucosa	Colon
39	chr7:27168400-27168800	Flanking Active TSS	Colon Smooth Muscle	Colon
40	chr7:27168400-27168800	Enhancers	Esophagus	oesophagus
41	chr7:27168400-27168800	Genic enhancers	Fetal Intestine Large	intestine
42	chr7:27168400-27168800	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
43	chr7:27168400-27168800	Genic enhancers	Fetal Muscle Leg	muscle
44	chr7:27168400-27169000	Active TSS	Duodenum Mucosa	Duodenum
45	chr7:27168400-27169000	Enhancers	Fetal Muscle Trunk	muscle
46	chr7:27168400-27169200	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
47	chr7:27168400-27169200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
48	chr7:27168400-27169600	Flanking Active TSS	Rectal Smooth Muscle	rectum
49	chr7:27168400-27169600	Enhancers	Spleen	Spleen
50	chr7:27168400-27169800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine

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