Variant report

Variant	esv3399863
Chromosome Location	chr7:149468069-149471792
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:409)
CpG islands
(count:734)
Chromatin interactive
region (count:17)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:409 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:149468988-149469116	K562	blood:	n/a	n/a
2	BACH1	chr7:149470828-149470909	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr7:149470146-149470517	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr7:149468291-149468689	K562	blood:	n/a	n/a
5	BACH1	chr7:149471378-149471536	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCLAF1	chr7:149468749-149469265	K562	blood:	n/a	chr7:149468998-149469007
7	BHLHE40	chr7:149470761-149470937	K562	blood:	n/a	n/a
8	BHLHE40	chr7:149468628-149469161	GM12878	blood:	n/a	n/a
9	BHLHE40	chr7:149471336-149471864	K562	blood:	n/a	n/a
10	BHLHE40	chr7:149470191-149470441	K562	blood:	n/a	chr7:149470279-149470295
11	BHLHE40	chr7:149468449-149469169	K562	blood:	n/a	n/a
12	BHLHE40	chr7:149469561-149469696	K562	blood:	n/a	n/a
13	BRCA1	chr7:149468704-149468713	GM12878	blood:	n/a	n/a
14	CBX3	chr7:149468749-149469600	K562	blood:	n/a	n/a
15	CCNT2	chr7:149470128-149471821	K562	blood:	n/a	chr7:149470896-149470905
16	CCNT2	chr7:149468580-149469746	K562	blood:	n/a	chr7:149469469-149469478
17	CEBPB	chr7:149471395-149471473	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr7:149468623-149469139	HepG2	liver:	n/a	n/a
19	CHD2	chr7:149470237-149470425	K562	blood:	n/a	n/a
20	CHD2	chr7:149470774-149471052	K562	blood:	n/a	n/a
21	CHD2	chr7:149468531-149469658	GM12878	blood:	n/a	chr7:149469469-149469479
22	CHD2	chr7:149471485-149471697	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr7:149471330-149471343	HepG2	liver:	n/a	n/a
24	CHD2	chr7:149468627-149469634	H1-hESC	embryonic stem cell:	n/a	chr7:149469469-149469479
25	CHD2	chr7:149468622-149469614	Hela-S3	cervix:	n/a	chr7:149469469-149469479
26	CHD2	chr7:149468557-149469711	K562	blood:	n/a	chr7:149469469-149469479
27	CREB1	chr7:149468794-149469187	A549	lung:	n/a	n/a
28	CTBP2	chr7:149468143-149469221	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr7:149470761-149470849	MCF-7	breast:	n/a	n/a
30	CTCF	chr7:149469026-149469128	K562	blood:	n/a	n/a
31	CTCF	chr7:149470680-149470830	GM12873	blood:	n/a	n/a
32	CTCF	chr7:149471583-149471697	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr7:149468844-149469025	Spleen_OC	spleen:	n/a	n/a
34	CTCF	chr7:149470820-149470970	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr7:149471560-149471710	HUVEC	blood vessel:	n/a	n/a
36	CTCF	chr7:149471500-149471650	HBMEC	blood vessel:	n/a	n/a
37	CTCF	chr7:149471500-149471650	HUVEC	blood vessel:	n/a	n/a
38	CTCF	chr7:149471540-149471690	RPTEC	kidney:	n/a	n/a
39	CUX1	chr7:149468396-149468573	K562	blood:	n/a	n/a
40	CUX1	chr7:149468985-149469078	K562	blood:	n/a	n/a
41	E2F4	chr7:149468740-149469267	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F6	chr7:149470064-149470468	K562	blood:	n/a	chr7:149470156-149470165
43	E2F6	chr7:149470889-149471128	K562	blood:	n/a	chr7:149471004-149471016 chr7:149470896-149470905
44	E2F6	chr7:149468641-149469114	K562	blood:	n/a	n/a
45	E2F6	chr7:149469362-149469509	K562	blood:	n/a	chr7:149469387-149469396
46	E2F6	chr7:149470597-149470872	K562	blood:	n/a	n/a
47	EBF1	chr7:149468851-149469106	GM12878	blood:	n/a	n/a
48	EBF1	chr7:149470918-149471133	GM12878	blood:	n/a	chr7:149471086-149471099 chr7:149471087-149471097 chr7:149471088-149471097
49	EBF1	chr7:149470864-149471158	GM12878	blood:	n/a	chr7:149471086-149471099 chr7:149471087-149471097 chr7:149471088-149471097
50	EGR1	chr7:149468804-149469309	K562	blood:	n/a	chr7:149468915-149468929 chr7:149468859-149468873 chr7:149468875-149468889

(count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:149470820-149470870	U87	brain:	n/a
2	chr7:149470694-149470744	HAEpiC	amniotic membrane:	n/a
3	chr7:149470820-149470870	U87	brain:	n/a
4	chr7:149470694-149470744	HAEpiC	amniotic membrane:	n/a
5	chr7:149470335-149470385	Hela-S3	cervix:	n/a
6	chr7:149470284-149470334	RPTEC	kidney:	n/a
7	chr7:149468994-149469044	AG09319	gingival:	n/a
8	chr7:149470343-149470393	PrEC	prostate:	n/a
9	chr7:149470809-149470859	GM12892	blood:	n/a
10	chr7:149470335-149470385	GM19239	blood:	n/a
11	chr7:149468989-149469039	AG04449	skin:	fetal
12	chr7:149470284-149470334	HepG2	liver:	n/a
13	chr7:149469722-149469772	NH-A	brain:	n/a
14	chr7:149470820-149470870	HCPEpiC	choroid plexus:	n/a
15	chr7:149470820-149470870	AG04450	lung:	fetal
16	chr7:149470295-149470345	HEEpiC	esophagus:	n/a
17	chr7:149470335-149470385	MCF-7	breast:	n/a
18	chr7:149470343-149470393	GM12878	blood:	n/a
19	chr7:149470820-149470870	PrEC	prostate:	n/a
20	chr7:149468989-149469039	U87	brain:	n/a
21	chr7:149470694-149470744	HEEpiC	esophagus:	n/a
22	chr7:149471044-149471094	HCT-116	colon:	n/a
23	chr7:149469722-149469772	ECC-1	luminal epithelium:	n/a
24	chr7:149470820-149470870	BE2_C	brain:	n/a
25	chr7:149470820-149470870	T-47D	breast:	n/a
26	chr7:149468989-149469039	AG04450	lung:	fetal
27	chr7:149470335-149470385	H1-hESC	embryonic stem cell:	embryo
28	chr7:149470694-149470744	GM12878	blood:	n/a
29	chr7:149470343-149470393	NH-A	brain:	n/a
30	chr7:149470335-149470385	PANC-1	pancreas:	n/a
31	chr7:149470809-149470859	HRPEpiC	eye:	n/a
32	chr7:149468994-149469044	PrEC	prostate:	n/a
33	chr7:149470820-149470870	RPTEC	kidney:	n/a
34	chr7:149470809-149470859	AG04449	skin:	fetal
35	chr7:149470284-149470334	GM12892	blood:	n/a
36	chr7:149470820-149470870	NT2-D1	testis:	n/a
37	chr7:149470295-149470345	CMK	blood:	n/a
38	chr7:149468989-149469039	HCF	heart:	n/a
39	chr7:149470694-149470744	AG09309	skin:	n/a
40	chr7:149470694-149470744	K562	blood:	n/a
41	chr7:149470820-149470870	K562	blood:	n/a
42	chr7:149468365-149468415	HRCEpiC	kidney:	n/a
43	chr7:149470694-149470744	HCF	heart:	n/a
44	chr7:149468994-149469044	NHDF-neo	bronchial:	n/a
45	chr7:149470694-149470744	AG04450	lung:	fetal
46	chr7:149470295-149470345	HEK293	kidney:	embryo
47	chr7:149468994-149469044	H1-hESC	embryonic stem cell:	embryo
48	chr7:149468989-149469039	PANC-1	pancreas:	n/a
49	chr7:149470343-149470393	Caco-2	colon:	n/a
50	chr7:149468365-149468415	NT2-D1	testis:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:149469665..149471242-chr7:149492952..149494694,2	K562	blood:
2	chr7:149468652..149471157-chr7:150776207..150778297,2	MCF-7	breast:
3	chr7:149467684..149471867-chr7:149482733..149487472,6	K562	blood:
4	chr7:149425054..149427794-chr7:149470002..149471582,2	MCF-7	breast:
5	chr10:8096209..8098721-chr7:149471620..149473923,2	MCF-7	breast:
6	chr7:149470006..149471576-chr7:149569800..149572611,2	MCF-7	breast:
7	chr7:149466134..149470595-chr7:149532425..149537706,5	MCF-7	breast:
8	chr7:149459369..149463521-chr7:149463788..149469028,7	MCF-7	breast:
9	chr7:149469487..149472454-chr7:149520687..149524368,4	MCF-7	breast:
10	chr7:149470907..149472534-chr7:149538103..149539944,2	MCF-7	breast:
11	chr7:149450433..149451411-chr7:149468680..149469637,2	K562	blood:
12	chr7:149468811..149471165-chr7:149492241..149495834,3	K562	blood:
13	chr7:149318463..149321667-chr7:149470267..149475750,6	K562	blood:
14	chr7:149320646..149323344-chr7:149466840..149468617,2	K562	blood:
15	chr7:149320616..149324173-chr7:149466840..149469728,4	K562	blood:
16	chr7:149468983..149471079-chr7:149493148..149495214,3	MCF-7	breast:
17	chr7:149158020..149159528-chr7:149468647..149470369,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KRBA1-2	chr7:149470297-149473130	NONHSAT124042

No data

Variant related genes	Relation type
SSPO	TF binding region
ZNF467	TF binding region
SSPO	CpG island
ZNF467	CpG island
ENSG00000196453	chromatin interactions
ENSG00000204934	chromatin interactions
ENSG00000164896	chromatin interactions
ENSG00000133619	chromatin interactions
ENSG00000106479	chromatin interactions
ENSG00000197558	chromatin interactions
ENSG00000171130	chromatin interactions
ENSG00000133624	chromatin interactions
ENSG00000107485	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536261397	chr7:149468104-149468105	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs375671110	chr7:149468127-149468128	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs139567467	chr7:149468137-149468138	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs367650450	chr7:149468146-149468147	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs548573403	chr7:149468181-149468182	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs545392055	chr7:149468197-149468198	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs565307874	chr7:149468234-149468235	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs999728	chr7:149468238-149468239	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs143956416	chr7:149468332-149468333	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs181658247	chr7:149468356-149468357	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs147304774	chr7:149468383-149468384	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs547188817	chr7:149468387-149468388	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs186239673	chr7:149468388-149468389	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs538976716	chr7:149468394-149468395	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs375321398	chr7:149468397-149468398	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs568555520	chr7:149468403-149468404	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs865930	chr7:149468419-149468420	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs114604450	chr7:149468429-149468430	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs73481806	chr7:149468479-149468480	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs73725600	chr7:149468513-149468514	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs554030262	chr7:149468546-149468547	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs190902317	chr7:149468547-149468548	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs183475976	chr7:149468563-149468564	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs554630964	chr7:149468598-149468599	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs117792503	chr7:149468612-149468613	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs185129552	chr7:149468669-149468670	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs544605213	chr7:149468740-149468741	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs561192101	chr7:149468840-149468841	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs530236462	chr7:149468868-149468869	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs561916497	chr7:149468922-149468923	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs560351363	chr7:149468985-149468986	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs532660355	chr7:149469002-149469003	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs2579590	chr7:149469175-149469176	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs13308643	chr7:149469395-149469396	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs569535286	chr7:149469413-149469414	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs531165253	chr7:149469476-149469477	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs369431151	chr7:149469611-149469612	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs371910585	chr7:149469630-149469631	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs41553	chr7:149469631-149469632	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs568034009	chr7:149469692-149469693	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs190822417	chr7:149469708-149469709	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs553993478	chr7:149469732-149469733	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs115631367	chr7:149469739-149469740	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs41554	chr7:149469767-149469768	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs539647687	chr7:149469838-149469839	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs13308961	chr7:149469870-149469871	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs112521747	chr7:149469902-149469903	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs183010964	chr7:149469942-149469943	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs1659458	chr7:149470055-149470056	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs192979341	chr7:149470112-149470113	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Wilms tumour	21544195	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
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD

Chromatin state (count:657 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149451200-149468400	Weak transcription	Right Atrium	heart
2	chr7:149460600-149468200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:149463000-149468200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:149463000-149468400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr7:149464600-149468400	Weak transcription	Aorta	Aorta
6	chr7:149465800-149468200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:149465800-149468200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:149466200-149468400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:149466400-149468200	Weak transcription	Adipose Nuclei	Adipose
10	chr7:149466400-149468200	Weak transcription	Left Ventricle	heart
11	chr7:149466600-149468400	Enhancers	K562	blood
12	chr7:149466800-149468200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr7:149467000-149469000	Weak transcription	Gastric	stomach
14	chr7:149467200-149468200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:149467400-149468200	Genic enhancers	Lung	lung
16	chr7:149467600-149468200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:149467600-149468200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:149467600-149468200	Genic enhancers	Primary monocytes fromperipheralblood	blood
19	chr7:149467600-149468200	Enhancers	Primary hematopoietic stem cells	blood
20	chr7:149467600-149468200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr7:149467600-149468200	Enhancers	Pancreas	Pancrea
22	chr7:149467600-149468200	Genic enhancers	Monocytes-CD14+_RO01746	blood
23	chr7:149467600-149468400	Enhancers	Fetal Thymus	thymus
24	chr7:149467600-149468800	Enhancers	Stomach Mucosa	stomach
25	chr7:149467600-149468800	Enhancers	Spleen	Spleen
26	chr7:149467800-149468200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
27	chr7:149467800-149468200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
28	chr7:149467800-149468200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr7:149467800-149468200	Enhancers	Colon Smooth Muscle	Colon
30	chr7:149467800-149468200	Enhancers	Fetal Brain Female	brain
31	chr7:149467800-149468200	Genic enhancers	Fetal Stomach	stomach
32	chr7:149467800-149468400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
33	chr7:149467800-149468400	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:149467800-149468400	Enhancers	Primary B cells from peripheral blood	blood
35	chr7:149467800-149468400	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr7:149467800-149468400	Enhancers	Fetal Muscle Leg	muscle
37	chr7:149467800-149468400	Enhancers	Ovary	ovary
38	chr7:149467800-149468400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr7:149467800-149468400	Enhancers	Thymus	Thymus
40	chr7:149467800-149468600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
41	chr7:149467800-149468600	Enhancers	Esophagus	oesophagus
42	chr7:149467800-149468800	Flanking Active TSS	Dnd41	blood
43	chr7:149468000-149468200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
44	chr7:149468000-149468200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
45	chr7:149468000-149468200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
46	chr7:149468000-149468200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:149468000-149468200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:149468000-149468200	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
49	chr7:149468000-149468200	Enhancers	Primary B cells from cord blood	blood
50	chr7:149468000-149468200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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