Variant report

Variant	esv3341117
Chromosome Location	chr7:26191052-26193600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:537)
CpG islands
(count:797)
Chromatin interactive
region (count:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:537 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr7:26192743-26193985	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr7:26192958-26193943	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr7:26193593-26194113	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr7:26191502-26191790	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCLAF1	chr7:26191348-26192153	GM12878	blood:	n/a	chr7:26191796-26191809 chr7:26191834-26191847 chr7:26191813-26191822 chr7:26191798-26191811 chr7:26191802-26191815 chr7:26191919-26191932
6	BHLHE40	chr7:26191604-26192176	HepG2	liver:	n/a	chr7:26191795-26191811 chr7:26192019-26192035 chr7:26191803-26191819 chr7:26191830-26191846 chr7:26191917-26191933 chr7:26191796-26191812
7	BHLHE40	chr7:26192626-26193938	K562	blood:	n/a	n/a
8	BHLHE40	chr7:26191546-26192306	K562	blood:	n/a	chr7:26191795-26191811 chr7:26192019-26192035 chr7:26191803-26191819 chr7:26191830-26191846 chr7:26191917-26191933 chr7:26191796-26191812
9	BHLHE40	chr7:26191507-26192202	GM12878	blood:	n/a	chr7:26191795-26191811 chr7:26192019-26192035 chr7:26191803-26191819 chr7:26191830-26191846 chr7:26191917-26191933 chr7:26191796-26191812
10	BRCA1	chr7:26193206-26193808	H1-hESC	embryonic stem cell:	n/a	n/a
11	CCNT2	chr7:26192589-26192874	K562	blood:	n/a	n/a
12	CCNT2	chr7:26191569-26192234	K562	blood:	n/a	n/a
13	CEBPB	chr7:26193180-26193762	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr7:26192861-26192934	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPD	chr7:26191532-26191784	HepG2	liver:	n/a	n/a
16	CHD1	chr7:26192740-26194065	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD1	chr7:26191252-26191559	GM12878	blood:	n/a	n/a
18	CHD1	chr7:26191798-26191983	GM12878	blood:	n/a	n/a
19	CHD1	chr7:26193444-26193999	GM12878	blood:	n/a	n/a
20	CHD2	chr7:26191451-26191621	K562	blood:	n/a	n/a
21	CHD2	chr7:26193157-26193967	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr7:26191482-26191998	GM12878	blood:	n/a	n/a
23	CHD2	chr7:26193518-26193967	GM12878	blood:	n/a	n/a
24	CHD2	chr7:26191578-26191910	H1-hESC	embryonic stem cell:	n/a	n/a
25	CREB1	chr7:26191459-26191995	A549	lung:	n/a	n/a
26	CTBP2	chr7:26193569-26194064	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr7:26191480-26191630	HEEpiC	esophagus:	n/a	n/a
28	CTCF	chr7:26191600-26191750	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chr7:26193380-26193530	HAc	cerebellar:	n/a	n/a
30	CTCF	chr7:26191640-26191790	K562	blood:	n/a	n/a
31	CTCF	chr7:26191620-26191770	AG04449	skin:	n/a	n/a
32	CTCF	chr7:26191700-26191850	GM12868	blood:	n/a	chr7:26191806-26191819
33	CTCF	chr7:26191660-26191810	HEK293	kidney:	n/a	n/a
34	CTCF	chr7:26193080-26193230	GM12878	blood:	n/a	n/a
35	CTCF	chr7:26191640-26191790	GM12872	blood:	n/a	n/a
36	CTCF	chr7:26191551-26191874	Spleen_OC	spleen:	n/a	chr7:26191806-26191819
37	CTCF	chr7:26191520-26191670	HEK293	kidney:	n/a	n/a
38	CTCF	chr7:26192080-26192230	GM12869	blood:	n/a	n/a
39	CTCF	chr7:26191640-26191790	GM12869	blood:	n/a	n/a
40	CTCF	chr7:26191610-26191915	K562	blood:	n/a	chr7:26191806-26191819
41	CTCF	chr7:26191980-26192130	GM12865	blood:	n/a	n/a
42	CTCF	chr7:26191572-26191784	GM10266	blood:	n/a	n/a
43	CTCF	chr7:26191640-26191790	GM12867	blood:	n/a	n/a
44	CTCF	chr7:26193120-26193270	HPF	lung:	n/a	n/a
45	CTCF	chr7:26193140-26193290	HBMEC	blood vessel:	n/a	n/a
46	CTCF	chr7:26191574-26191857	HepG2	liver:	n/a	chr7:26191806-26191819
47	CTCF	chr7:26191718-26191816	GM10248	blood:	n/a	n/a
48	CTCF	chr7:26191600-26191750	GM12871	blood:	n/a	n/a
49	CTCF	chr7:26192260-26192410	GM12874	blood:	n/a	n/a
50	CTCF	chr7:26193180-26193330	HepG2	liver:	n/a	n/a

(count:797 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:26192756-26192806	GM19239	blood:	n/a
2	chr7:26191696-26191746	AG10803	skin:	n/a
3	chr7:26192034-26192084	Jurkat	blood:	n/a
4	chr7:26191726-26191776	HNPCEpiC	eye:	n/a
5	chr7:26192756-26192806	GM19239	blood:	n/a
6	chr7:26191696-26191746	AG10803	skin:	n/a
7	chr7:26192034-26192084	Jurkat	blood:	n/a
8	chr7:26191726-26191776	HNPCEpiC	eye:	n/a
9	chr7:26191489-26191539	NHDF-neo	bronchial:	n/a
10	chr7:26191726-26191776	ProgFib	skin:	n/a
11	chr7:26191489-26191539	HMEC	breast:	n/a
12	chr7:26192032-26192082	U87	brain:	n/a
13	chr7:26193109-26193159	PFSK-1	brain:	n/a
14	chr7:26192756-26192806	PrEC	prostate:	n/a
15	chr7:26191599-26191649	GM12878	blood:	n/a
16	chr7:26191458-26191508	HepG2	liver:	n/a
17	chr7:26191726-26191776	HRE	kidney:	n/a
18	chr7:26191458-26191508	SK-N-MC	brain:	n/a
19	chr7:26192034-26192084	NHDF-neo	bronchial:	n/a
20	chr7:26192199-26192249	IMR90	lung:	fetal
21	chr7:26191599-26191649	U87	brain:	n/a
22	chr7:26191633-26191683	GM19239	blood:	n/a
23	chr7:26192034-26192084	HRPEpiC	eye:	n/a
24	chr7:26191489-26191539	AG09319	gingival:	n/a
25	chr7:26193032-26193082	AG04450	lung:	fetal
26	chr7:26193109-26193159	HEK293	kidney:	embryo
27	chr7:26191489-26191539	HPAEpiC	pulmonary alveolar:	n/a
28	chr7:26191696-26191746	AG09319	gingival:	n/a
29	chr7:26191599-26191649	H1-hESC	embryonic stem cell:	embryo
30	chr7:26193109-26193159	K562	blood:	n/a
31	chr7:26191726-26191776	K562	blood:	n/a
32	chr7:26192966-26193016	PANC-1	pancreas:	n/a
33	chr7:26192966-26193016	HNPCEpiC	eye:	n/a
34	chr7:26192966-26193016	HEK293	kidney:	embryo
35	chr7:26193109-26193159	RPTEC	kidney:	n/a
36	chr7:26192199-26192249	HRE	kidney:	n/a
37	chr7:26193109-26193159	AG09309	skin:	n/a
38	chr7:26192032-26192082	T-47D	breast:	n/a
39	chr7:26191458-26191508	ProgFib	skin:	n/a
40	chr7:26193032-26193082	Hepatocyte	liver:	n/a
41	chr7:26191458-26191508	CMK	blood:	n/a
42	chr7:26191599-26191649	ECC-1	luminal epithelium:	n/a
43	chr7:26191633-26191683	SK-N-MC	brain:	n/a
44	chr7:26193032-26193082	HCPEpiC	choroid plexus:	n/a
45	chr7:26192034-26192084	AG04449	skin:	fetal
46	chr7:26192032-26192082	SKMC	muscle:	n/a
47	chr7:26193109-26193159	SK-N-SH	brain:	n/a
48	chr7:26193109-26193159	HUVEC	blood vessel:	n/a
49	chr7:26192756-26192806	HEEpiC	esophagus:	n/a
50	chr7:26191726-26191776	SAEC	small airway:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26187891..26202612-chr7:26221953..26234536,42	K562	blood:
2	chr7:26191421..26193047-chr7:26221749..26224345,2	MCF-7	breast:
3	chr19:16186941..16187691-chr7:26191732..26192335,2	NB4	blood:
4	chr7:26190297..26193509-chr7:26229457..26232588,3	MCF-7	breast:
5	chr7:26148861..26152196-chr7:26192517..26195999,3	K562	blood:
6	chr7:26188281..26195881-chr7:26237249..26245873,15	K562	blood:
7	chr7:26188352..26191164-chr7:26239205..26240759,2	MCF-7	breast:
8	chr7:26190764..26192860-chr7:26222610..26225578,2	MCF-7	breast:
9	chr7:26189582..26191145-chr7:26243499..26245167,2	K562	blood:
10	chr7:26190149..26194223-chr7:26238891..26242307,10	MCF-7	breast:
11	chr7:26191482..26195412-chr7:26238481..26241782,5	MCF-7	breast:
12	chr7:26187762..26202698-chr7:26218693..26233402,42	K562	blood:
13	chr7:26174239..26175923-chr7:26189473..26191347,2	K562	blood:
14	chr7:26190306..26191845-chr7:26238643..26241387,3	K562	blood:
15	chr7:26191444..26193489-chr7:26235586..26237855,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HNRNPA2B1-8	chr7:26190725-26191065	expRegAs_chr7_2078_-

No data

Variant related genes	Relation type
NFE2L3	TF binding region
NFE2L3	CpG island
ENSG00000167460	chromatin interactions
ENSG00000050344	chromatin interactions
ENSG00000122565	chromatin interactions
ENSG00000122566	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79777661	chr7:26191118-26191119	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs544931222	chr7:26191125-26191126	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs554463490	chr7:26191130-26191131	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs73279692	chr7:26191192-26191193	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs182654279	chr7:26191210-26191211	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs546961130	chr7:26191229-26191230	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs560413910	chr7:26191257-26191258	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs186283820	chr7:26191279-26191280	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs549034164	chr7:26191525-26191526	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs190465979	chr7:26191612-26191613	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs373398022	chr7:26191643-26191644	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs144919983	chr7:26191666-26191667	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs2073536	chr7:26191698-26191699	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs533587318	chr7:26191708-26191709	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs377001541	chr7:26191713-26191714	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs573527414	chr7:26191757-26191758	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs548282970	chr7:26191771-26191772	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs183403935	chr7:26191793-26191794	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs575911873	chr7:26191859-26191860	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs544813766	chr7:26191930-26191931	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs564807868	chr7:26191933-26191934	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs578183074	chr7:26191946-26191947	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs188640964	chr7:26191950-26191951	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs540294649	chr7:26191984-26191985	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs560552111	chr7:26192039-26192040	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs529234257	chr7:26192080-26192081	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs542719010	chr7:26192093-26192094	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs374410752	chr7:26192118-26192119	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs367865062	chr7:26192187-26192188	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs570339212	chr7:26192195-26192196	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs562537498	chr7:26192217-26192218	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs150110602	chr7:26192231-26192232	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs531442726	chr7:26192232-26192233	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs199558763	chr7:26192248-26192249	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs571480830	chr7:26192269-26192270	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs527603588	chr7:26192298-26192299	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs576398496	chr7:26192337-26192338	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs567262229	chr7:26192345-26192346	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs192761013	chr7:26192365-26192366	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs182688649	chr7:26192392-26192393	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs569755743	chr7:26192401-26192402	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs571419845	chr7:26192504-26192505	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs200699467	chr7:26192564-26192565	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs558306887	chr7:26192600-26192601	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs578086652	chr7:26192667-26192668	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs537694894	chr7:26192717-26192718	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs545369778	chr7:26192722-26192723	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs554126245	chr7:26192734-26192735	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs574027958	chr7:26192768-26192769	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs542602801	chr7:26192802-26192803	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Gastric cancer	22014070	CNVD

Chromatin state (count:495 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26184600-26191200	Weak transcription	A549	lung
2	chr7:26187200-26191200	Weak transcription	Gastric	stomach
3	chr7:26187200-26191400	Weak transcription	Lung	lung
4	chr7:26189400-26191400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:26190000-26191200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:26190000-26191800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:26190200-26191200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr7:26190400-26191200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr7:26190400-26191200	Enhancers	K562	blood
10	chr7:26190600-26191200	Enhancers	Primary T cells from cord blood	blood
11	chr7:26190600-26191200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:26190600-26191200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr7:26190600-26191200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr7:26190600-26191200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
15	chr7:26190600-26191200	Enhancers	Fetal Thymus	thymus
16	chr7:26190600-26191200	Bivalent Enhancer	HepG2	liver
17	chr7:26190600-26191400	Enhancers	Brain Substantia Nigra	brain
18	chr7:26190600-26191400	Enhancers	Spleen	Spleen
19	chr7:26190800-26191200	Enhancers	H9 Cell Line	embryonic stem cell
20	chr7:26190800-26191200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:26190800-26191200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr7:26190800-26191200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr7:26190800-26191200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:26190800-26191200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr7:26190800-26191200	Enhancers	HSMM	muscle
26	chr7:26190800-26191200	Bivalent Enhancer	Osteobl	bone
27	chr7:26190800-26191400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
28	chr7:26190800-26191400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr7:26190800-26191400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:26190800-26191600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr7:26190800-26191600	Flanking Active TSS	GM12878-XiMat	blood
32	chr7:26190800-26191800	Bivalent Enhancer	Fetal Brain Male	brain
33	chr7:26191000-26191200	Enhancers	Primary B cells from peripheral blood	blood
34	chr7:26191000-26191200	Enhancers	Primary hematopoietic stem cells	blood
35	chr7:26191000-26191200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr7:26191000-26191200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:26191000-26191200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr7:26191000-26191200	Enhancers	Adipose Nuclei	Adipose
39	chr7:26191000-26191200	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
40	chr7:26191000-26191200	Enhancers	Colonic Mucosa	Colon
41	chr7:26191000-26191200	Enhancers	Duodenum Mucosa	Duodenum
42	chr7:26191000-26191200	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr7:26191000-26191200	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr7:26191000-26191200	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr7:26191000-26191400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr7:26191000-26191400	Enhancers	H1 Cell Line	embryonic stem cell
47	chr7:26191000-26191400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
48	chr7:26191000-26191400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr7:26191000-26191400	Bivalent Enhancer	Fetal Brain Female	brain
50	chr7:26191000-26191400	Bivalent Enhancer	Fetal Intestine Small	intestine

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