Variant report

Variant	esv3352938
Chromosome Location	chr7:100659732-100663130
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:371)
CpG islands
(count:428)
Chromatin interactive
region (count:5)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr7:100660727-100661099	GM12878	blood:	n/a	n/a
2	ATF2	chr7:100661797-100662462	GM12878	blood:	n/a	n/a
3	ATF2	chr7:100660670-100661107	GM12878	blood:	n/a	n/a
4	ATF3	chr7:100660800-100661128	K562	blood:	n/a	n/a
5	ATF3	chr7:100660675-100661110	A549	lung:	n/a	n/a
6	ATF3	chr7:100660660-100661103	A549	lung:	n/a	n/a
7	ATF3	chr7:100660850-100661016	K562	blood:	n/a	n/a
8	BACH1	chr7:100660771-100661027	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr7:100660799-100660996	K562	blood:	n/a	n/a
10	BATF	chr7:100660711-100661146	GM12878	blood:	n/a	n/a
11	BATF	chr7:100661967-100662417	GM12878	blood:	n/a	n/a
12	BATF	chr7:100662051-100662382	GM12878	blood:	n/a	n/a
13	BATF	chr7:100660816-100661103	GM12878	blood:	n/a	n/a
14	BCL11A	chr7:100660767-100661112	GM12878	blood:	n/a	n/a
15	BCL11A	chr7:100660848-100661165	GM12878	blood:	n/a	n/a
16	BCL11A	chr7:100661969-100662354	GM12878	blood:	n/a	chr7:100662223-100662232
17	BCL3	chr7:100660686-100661198	GM12878	blood:	n/a	n/a
18	BCL3	chr7:100660552-100661086	A549	lung:	n/a	n/a
19	BCL3	chr7:100660242-100661162	A549	lung:	n/a	n/a
20	BCLAF1	chr7:100661927-100662319	GM12878	blood:	n/a	chr7:100662223-100662232
21	BHLHE40	chr7:100660843-100660996	HepG2	liver:	n/a	n/a
22	BHLHE40	chr7:100661909-100662190	GM12878	blood:	n/a	n/a
23	BHLHE40	chr7:100660484-100661125	GM12878	blood:	n/a	n/a
24	BHLHE40	chr7:100660487-100660610	K562	blood:	n/a	n/a
25	BHLHE40	chr7:100660870-100660995	K562	blood:	n/a	n/a
26	BRCA1	chr7:100660746-100660924	HepG2	liver:	n/a	n/a
27	CBX3	chr7:100660230-100661139	K562	blood:	n/a	n/a
28	CCNT2	chr7:100660408-100660966	K562	blood:	n/a	n/a
29	CEBPB	chr7:100660442-100660626	GM12878	blood:	n/a	n/a
30	CHD1	chr7:100659894-100661148	IMR90	lung:	n/a	n/a
31	CHD2	chr7:100660467-100660666	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chr7:100662193-100662373	GM12878	blood:	n/a	n/a
33	CHD2	chr7:100660723-100661074	GM12878	blood:	n/a	n/a
34	CHD2	chr7:100661545-100661745	H1-hESC	embryonic stem cell:	n/a	n/a
35	CREB1	chr7:100660378-100661115	GM12878	blood:	n/a	n/a
36	CREB1	chr7:100660703-100661024	A549	lung:	n/a	n/a
37	CTBP2	chr7:100659966-100661045	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTBP2	chr7:100661493-100662331	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr7:100660820-100660970	GM12875	blood:	n/a	n/a
40	CTCF	chr7:100662080-100662230	GM12869	blood:	n/a	n/a
41	CUX1	chr7:100661948-100662586	GM12878	blood:	n/a	n/a
42	CUX1	chr7:100660737-100661147	GM12878	blood:	n/a	n/a
43	EBF1	chr7:100662025-100662346	GM12878	blood:	n/a	n/a
44	EBF1	chr7:100660694-100661915	GM12878	blood:	n/a	chr7:100661044-100661055 chr7:100660968-100660979 chr7:100661025-100661036
45	EBF1	chr7:100660278-100662527	GM12878	blood:	n/a	chr7:100661044-100661055 chr7:100660968-100660979 chr7:100661025-100661036
46	EBF1	chr7:100660677-100661945	GM12878	blood:	n/a	chr7:100661044-100661055 chr7:100660968-100660979 chr7:100661025-100661036
47	EBF1	chr7:100662012-100662416	GM12878	blood:	n/a	n/a
48	EGR1	chr7:100661417-100661871	H1-hESC	embryonic stem cell:	n/a	chr7:100661707-100661721 chr7:100661745-100661759
49	EGR1	chr7:100660822-100661064	GM12878	blood:	n/a	chr7:100660960-100660973 chr7:100660963-100660977 chr7:100660960-100660970 chr7:100660986-100660995
50	EGR1	chr7:100659814-100660156	K562	blood:	n/a	chr7:100659971-100659985 chr7:100660020-100660034

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100661991-100662041	GM12891	blood:	n/a
2	chr7:100661991-100662041	GM12891	blood:	n/a
3	chr7:100662570-100662620	U87	brain:	n/a
4	chr7:100662570-100662620	AG09319	gingival:	n/a
5	chr7:100662570-100662620	K562	blood:	n/a
6	chr7:100660494-100660544	SAEC	small airway:	n/a
7	chr7:100660545-100660595	AG04449	skin:	fetal
8	chr7:100661996-100662046	SAEC	small airway:	n/a
9	chr7:100662570-100662620	PANC-1	pancreas:	n/a
10	chr7:100662570-100662620	GM12891	blood:	n/a
11	chr7:100660909-100660959	AoSMC	blood vessel:	n/a
12	chr7:100662570-100662620	HIPEpiC	eye:	n/a
13	chr7:100661991-100662041	CMK	blood:	n/a
14	chr7:100662570-100662620	GM19239	blood:	n/a
15	chr7:100662570-100662620	H1-hESC	embryonic stem cell:	embryo
16	chr7:100660494-100660544	U87	brain:	n/a
17	chr7:100661996-100662046	AG09309	skin:	n/a
18	chr7:100660595-100660645	NT2-D1	testis:	n/a
19	chr7:100660494-100660544	HCPEpiC	choroid plexus:	n/a
20	chr7:100660494-100660544	SKMC	muscle:	n/a
21	chr7:100661996-100662046	BJ	skin:	n/a
22	chr7:100662570-100662620	HRE	kidney:	n/a
23	chr7:100660595-100660645	Caco-2	colon:	n/a
24	chr7:100660595-100660645	ECC-1	luminal epithelium:	n/a
25	chr7:100660909-100660959	MCF10A-Er-Src	breast:	n/a
26	chr7:100660494-100660544	HRPEpiC	eye:	n/a
27	chr7:100660909-100660959	AG04450	lung:	fetal
28	chr7:100660595-100660645	AG09319	gingival:	n/a
29	chr7:100661991-100662041	AG09309	skin:	n/a
30	chr7:100660494-100660544	H1-hESC	embryonic stem cell:	embryo
31	chr7:100662570-100662620	ovcar-3	ovarian:	n/a
32	chr7:100660494-100660544	T-47D	breast:	n/a
33	chr7:100660545-100660595	HIPEpiC	eye:	n/a
34	chr7:100662570-100662620	HCF	heart:	n/a
35	chr7:100660494-100660544	NH-A	brain:	n/a
36	chr7:100661991-100662041	HCPEpiC	choroid plexus:	n/a
37	chr7:100660909-100660959	HCPEpiC	choroid plexus:	n/a
38	chr7:100660595-100660645	HMEC	breast:	n/a
39	chr7:100661996-100662046	HNPCEpiC	eye:	n/a
40	chr7:100661991-100662041	HL-60	blood:	n/a
41	chr7:100660545-100660595	SK-N-SH_RA	brain:	n/a
42	chr7:100661996-100662046	HIPEpiC	eye:	n/a
43	chr7:100662570-100662620	SK-N-MC	brain:	n/a
44	chr7:100662570-100662620	HRCEpiC	kidney:	n/a
45	chr7:100660595-100660645	RPTEC	kidney:	n/a
46	chr7:100660909-100660959	AG09309	skin:	n/a
47	chr7:100660494-100660544	ovcar-3	ovarian:	n/a
48	chr7:100660545-100660595	GM12891	blood:	n/a
49	chr7:100660545-100660595	SK-N-SH	brain:	n/a
50	chr7:100661996-100662046	ECC-1	luminal epithelium:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100486083..100488238-chr7:100659648..100662388,2	MCF-7	breast:
2	chr7:100462781..100465423-chr7:100657982..100660007,2	MCF-7	breast:
3	chr7:100608767..100609716-chr7:100660411..100661061,2	K562	blood:
4	chr7:100661599..100663275-chr7:100811718..100814144,2	K562	blood:
5	chr7:100606234..100609871-chr7:100659072..100662376,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUC17-1	chr7:100661876-100662217	NONHSAT122438
2	lnc-VGF-1	chr7:100660696-100660882	ENSG00000227053.1
3	lnc-VGF-1	chr7:100660696-100660889	ENSG00000227053.1
4	lnc-MUC17-1	chr7:100660615-100660944	NONHSAT122439
5	lnc-MUC17-1	chr7:100660544-100660678	NONHSAT122438
6	lnc-MUC17-1	chr7:100661876-100662220	NONHSAT122439
7	lnc-MUC17-1	chr7:100660856-100660944	NONHSAT122438

No data

Variant related genes	Relation type
MUC17	TF binding region
MUC12	TF binding region
ENSG00000227053	TF binding region
MUC17	CpG island
MUC12	CpG island
ENSG00000227053	CpG island
ENSG00000087077	chromatin interactions
ENSG00000225946	chromatin interactions
ENSG00000176125	chromatin interactions
ENSG00000169894	chromatin interactions

Extended variants
information (count: 135 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182224456	chr7:100659821-100659822	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs186791584	chr7:100659839-100659840	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs531041240	chr7:100659842-100659843	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs552337341	chr7:100659851-100659852	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs570653409	chr7:100659892-100659893	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs534807340	chr7:100659933-100659934	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs546977554	chr7:100659935-100659936	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs557693456	chr7:100659982-100659983	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs12539994	chr7:100659983-100659984	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs554928580	chr7:100660001-100660002	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs576385726	chr7:100660028-100660029	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs537282799	chr7:100660068-100660069	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs558781504	chr7:100660072-100660073	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs192704403	chr7:100660087-100660088	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs79570624	chr7:100660113-100660114	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs575894373	chr7:100660213-100660214	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs540727335	chr7:100660224-100660225	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs576014495	chr7:100660283-100660284	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs374822834	chr7:100660284-100660285	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs559317497	chr7:100660289-100660290	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs574324600	chr7:100660290-100660291	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs184921919	chr7:100660291-100660292	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs563672906	chr7:100660307-100660308	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs10248208	chr7:100660313-100660314	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs558053601	chr7:100660322-100660323	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs376645041	chr7:100660370-100660371	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs552402806	chr7:100660392-100660393	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs564478080	chr7:100660401-100660402	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs528599875	chr7:100660427-100660428	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs546747149	chr7:100660429-100660430	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs371238518	chr7:100660447-100660448	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs74796015	chr7:100660449-100660450	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs79433135	chr7:100660450-100660451	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs189716886	chr7:100660456-100660457	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs375124868	chr7:100660465-100660466	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs550984709	chr7:100660468-100660469	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs141463889	chr7:100660472-100660473	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs570012571	chr7:100660489-100660490	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs35197724	chr7:100660600-100660601	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
40	rs553038737	chr7:100660631-100660632	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
41	rs13246386	chr7:100660639-100660640	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
42	rs192952469	chr7:100660663-100660664	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
43	rs539686372	chr7:100660691-100660692	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
44	rs558315172	chr7:100660695-100660696	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
45	rs370756537	chr7:100660710-100660711	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
46	rs184367396	chr7:100660711-100660712	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
47	rs544603106	chr7:100660730-100660731	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
48	rs574458622	chr7:100660841-100660842	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
49	rs377223740	chr7:100660849-100660850	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
50	rs541467926	chr7:100660852-100660853	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:425 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100635400-100660000	Weak transcription	Gastric	stomach
2	chr7:100635800-100660000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:100635800-100660200	Weak transcription	Right Atrium	heart
4	chr7:100647800-100660200	Strong transcription	Rectal Mucosa Donor 31	rectum
5	chr7:100651600-100660000	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:100652600-100660000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:100653400-100659800	Weak transcription	NHLF	lung
8	chr7:100653800-100660000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:100653800-100660000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:100654200-100659800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:100655200-100659800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:100656600-100660000	Weak transcription	Thymus	Thymus
13	chr7:100657000-100660000	Weak transcription	HSMMtube	muscle
14	chr7:100657200-100659800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr7:100657400-100660000	Weak transcription	Fetal Brain Male	brain
16	chr7:100657600-100660000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr7:100657600-100660000	Weak transcription	Fetal Intestine Small	intestine
18	chr7:100657600-100660000	Weak transcription	Ovary	ovary
19	chr7:100657600-100660000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr7:100658400-100659800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:100658600-100659800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:100658800-100659800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr7:100658800-100659800	Enhancers	GM12878-XiMat	blood
24	chr7:100659000-100660000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr7:100659000-100661000	Enhancers	Spleen	Spleen
26	chr7:100659200-100659800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:100659200-100659800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr7:100659200-100660000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr7:100659200-100660000	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr7:100659200-100660000	Enhancers	Fetal Intestine Large	intestine
31	chr7:100659200-100660000	Enhancers	Stomach Mucosa	stomach
32	chr7:100659400-100659800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:100659400-100659800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr7:100659400-100659800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:100659400-100659800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:100659400-100660000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:100659400-100660000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr7:100659600-100659800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr7:100659600-100659800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
40	chr7:100659600-100659800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr7:100659600-100659800	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr7:100659600-100659800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:100659600-100660000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:100659600-100660000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:100659600-100660000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:100659600-100660000	Weak transcription	Colonic Mucosa	Colon
47	chr7:100659600-100660600	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr7:100659600-100661000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr7:100659600-100661200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:100659600-100661200	Active TSS	H9 Cell Line	embryonic stem cell

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