Variant report

Variant	esv3359760
Chromosome Location	chr7:100660332-100662580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:359)
CpG islands
(count:428)
Chromatin interactive
region (count:4)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:359 , 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	chr7:100660670-100661107	GM12878	blood:	n/a	n/a
2	ATF2	chr7:100661797-100662462	GM12878	blood:	n/a	n/a
3	ATF2	chr7:100660727-100661099	GM12878	blood:	n/a	n/a
4	ATF3	chr7:100660850-100661016	K562	blood:	n/a	n/a
5	ATF3	chr7:100660800-100661128	K562	blood:	n/a	n/a
6	ATF3	chr7:100660660-100661103	A549	lung:	n/a	n/a
7	ATF3	chr7:100660675-100661110	A549	lung:	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	chr7:100660816-100661103	GM12878	blood:	n/a	n/a
12	BATF	chr7:100662051-100662382	GM12878	blood:	n/a	n/a
13	BATF	chr7:100661967-100662417	GM12878	blood:	n/a	n/a
14	BCL11A	chr7:100660848-100661165	GM12878	blood:	n/a	n/a
15	BCL11A	chr7:100660767-100661112	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	chr7:100660242-100661162	A549	lung:	n/a	n/a
19	BCL3	chr7:100660552-100661086	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	chr7:100660484-100661125	GM12878	blood:	n/a	n/a
23	BHLHE40	chr7:100661909-100662190	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	chr7:100660723-100661074	GM12878	blood:	n/a	n/a
32	CHD2	chr7:100661545-100661745	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr7:100662193-100662373	GM12878	blood:	n/a	n/a
34	CHD2	chr7:100660467-100660666	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	chr7:100660737-100661147	GM12878	blood:	n/a	n/a
42	CUX1	chr7:100661948-100662586	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	chr7:100660677-100661945	GM12878	blood:	n/a	chr7:100661044-100661055 chr7:100660968-100660979 chr7:100661025-100661036
46	EBF1	chr7:100660278-100662527	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	chr7:100660680-100661133	K562	blood:	n/a	chr7:100660960-100660973 chr7:100660963-100660977 chr7:100660960-100660970 chr7:100660986-100660995
49	EGR1	chr7:100660784-100661169	H1-hESC	embryonic stem cell:	n/a	chr7:100660960-100660973 chr7:100660963-100660977 chr7:100660960-100660970 chr7:100660986-100660995
50	EGR1	chr7:100660822-100661064	GM12878	blood:	n/a	chr7:100660960-100660973 chr7:100660963-100660977 chr7:100660960-100660970 chr7:100660986-100660995

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100661996-100662046	HEEpiC	esophagus:	n/a
2	chr7:100661996-100662046	HEEpiC	esophagus:	n/a
3	chr7:100661991-100662041	CMK	blood:	n/a
4	chr7:100660595-100660645	AG10803	skin:	n/a
5	chr7:100662570-100662620	AoSMC	blood vessel:	n/a
6	chr7:100662570-100662620	NB4	blood:	n/a
7	chr7:100660595-100660645	HUVEC	blood vessel:	n/a
8	chr7:100661991-100662041	HL-60	blood:	n/a
9	chr7:100662570-100662620	BE2_C	brain:	n/a
10	chr7:100660909-100660959	ECC-1	luminal epithelium:	n/a
11	chr7:100661996-100662046	PANC-1	pancreas:	n/a
12	chr7:100660545-100660595	GM06990	blood:	n/a
13	chr7:100660545-100660595	BE2_C	brain:	n/a
14	chr7:100660494-100660544	HL-60	blood:	n/a
15	chr7:100661991-100662041	AG04450	lung:	fetal
16	chr7:100660545-100660595	HIPEpiC	eye:	n/a
17	chr7:100661991-100662041	Jurkat	blood:	n/a
18	chr7:100660595-100660645	MCF10A-Er-Src	breast:	n/a
19	chr7:100662570-100662620	SK-N-MC	brain:	n/a
20	chr7:100660545-100660595	NHDF-neo	bronchial:	n/a
21	chr7:100660595-100660645	BE2_C	brain:	n/a
22	chr7:100660545-100660595	HepG2	liver:	n/a
23	chr7:100662570-100662620	HMEC	breast:	n/a
24	chr7:100660545-100660595	AG04449	skin:	fetal
25	chr7:100660494-100660544	SKMC	muscle:	n/a
26	chr7:100660545-100660595	HPAEpiC	pulmonary alveolar:	n/a
27	chr7:100660909-100660959	HL-60	blood:	n/a
28	chr7:100662570-100662620	CMK	blood:	n/a
29	chr7:100660494-100660544	GM12892	blood:	n/a
30	chr7:100661996-100662046	AG04449	skin:	fetal
31	chr7:100660545-100660595	HAEpiC	amniotic membrane:	n/a
32	chr7:100661991-100662041	NB4	blood:	n/a
33	chr7:100660595-100660645	HEEpiC	esophagus:	n/a
34	chr7:100660909-100660959	HUVEC	blood vessel:	n/a
35	chr7:100660545-100660595	HCM	heart:	n/a
36	chr7:100660909-100660959	A549	lung:	n/a
37	chr7:100660494-100660544	AG10803	skin:	n/a
38	chr7:100661996-100662046	ProgFib	skin:	n/a
39	chr7:100660909-100660959	PrEC	prostate:	n/a
40	chr7:100660909-100660959	SK-N-SH	brain:	n/a
41	chr7:100660545-100660595	Hepatocyte	liver:	n/a
42	chr7:100661996-100662046	ovcar-3	ovarian:	n/a
43	chr7:100661991-100662041	GM19239	blood:	n/a
44	chr7:100660494-100660544	K562	blood:	n/a
45	chr7:100662570-100662620	HCPEpiC	choroid plexus:	n/a
46	chr7:100660494-100660544	PANC-1	pancreas:	n/a
47	chr7:100660909-100660959	GM12878	blood:	n/a
48	chr7:100662570-100662620	PANC-1	pancreas:	n/a
49	chr7:100660909-100660959	NH-A	brain:	n/a
50	chr7:100661991-100662041	GM12878	blood:	n/a

(count:4 , 50 per page) page: 1

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

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

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

No data

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

Extended variants
information (count: 83 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	rs562943799	chr7:100660893-100660894	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
27	rs144923828	chr7:100660897-100660898	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
28	rs138586862	chr7:100660920-100660921	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
29	rs368519996	chr7:100660939-100660940	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
30	rs371076352	chr7:100660947-100660948	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs374176698	chr7:100660957-100660958	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs556574934	chr7:100661008-100661009	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs370322511	chr7:100661009-100661010	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs374351936	chr7:100661013-100661014	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs200258005	chr7:100661014-100661015	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs547154041	chr7:100661028-100661029	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs369975126	chr7:100661043-100661044	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs201894617	chr7:100661044-100661045	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs562079275	chr7:100661050-100661051	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs199869194	chr7:100661065-100661066	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs372960047	chr7:100661094-100661095	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs189506885	chr7:100661098-100661099	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs550996903	chr7:100661125-100661126	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs201238118	chr7:100661160-100661161	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs374812706	chr7:100661309-100661310	Weak transcription Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs367836607	chr7:100661350-100661351	Weak transcription Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs542325775	chr7:100661438-100661439	Weak transcription Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs372152410	chr7:100661474-100661475	Weak transcription Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs541961203	chr7:100661484-100661485	Weak transcription Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs560199047	chr7:100661489-100661490	Weak transcription Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 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:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100659000-100661000	Enhancers	Spleen	Spleen
2	chr7:100659600-100660600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr7:100659600-100661000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr7:100659600-100661200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:100659600-100661200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr7:100659600-100662000	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr7:100659800-100660400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr7:100659800-100660400	Bivalent Enhancer	HepG2	liver
9	chr7:100659800-100660800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
10	chr7:100659800-100661000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr7:100659800-100661000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:100659800-100661000	Flanking Active TSS	GM12878-XiMat	blood
13	chr7:100659800-100661000	Active TSS	HSMM	muscle
14	chr7:100659800-100661000	Active TSS	NHLF	lung
15	chr7:100659800-100661200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
16	chr7:100659800-100661200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr7:100659800-100661200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:100659800-100662000	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr7:100659800-100662000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:100660000-100660400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:100660000-100660400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:100660000-100660400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr7:100660000-100660400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:100660000-100660400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:100660000-100660400	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr7:100660000-100660400	Bivalent Enhancer	Placenta	Placenta
27	chr7:100660000-100660400	Enhancers	Lung	lung
28	chr7:100660000-100660400	Enhancers	Pancreas	Pancrea
29	chr7:100660000-100660400	Flanking Active TSS	NHDF-Ad	bronchial
30	chr7:100660000-100660600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr7:100660000-100660600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:100660000-100660600	Active TSS	Brain Anterior Caudate	brain
33	chr7:100660000-100660600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
34	chr7:100660000-100660800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:100660000-100660800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr7:100660000-100660800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:100660000-100660800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:100660000-100660800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
39	chr7:100660000-100660800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
40	chr7:100660000-100660800	Flanking Active TSS	A549	lung
41	chr7:100660000-100660800	Enhancers	HUVEC	blood vessel
42	chr7:100660000-100660800	Flanking Active TSS	K562	blood
43	chr7:100660000-100661000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr7:100660000-100661000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:100660000-100661000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:100660000-100661000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:100660000-100661000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:100660000-100661000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr7:100660000-100661000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:100660000-100661000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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