Variant report

Variant	esv3373616
Chromosome Location	chr7:5459851-5462399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:338)
CpG islands
(count:488)
Chromatin interactive
region (count:19)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:338 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:5461514-5461820	K562	blood:	n/a	n/a
2	ARID3A	chr7:5461400-5461795	HepG2	liver:	n/a	n/a
3	BACH1	chr7:5461491-5462023	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr7:5461620-5461693	K562	blood:	n/a	n/a
5	BCL3	chr7:5461634-5462217	A549	lung:	n/a	chr7:5461839-5461848
6	BCL3	chr7:5461327-5462330	A549	lung:	n/a	chr7:5461839-5461848
7	BHLHE40	chr7:5460374-5460410	GM12878	blood:	n/a	n/a
8	BRCA1	chr7:5462216-5462280	HepG2	liver:	n/a	n/a
9	BRCA1	chr7:5461413-5461957	Hela-S3	cervix:	n/a	n/a
10	BRCA1	chr7:5460360-5460378	Hela-S3	cervix:	n/a	n/a
11	CCNT2	chr7:5460596-5461563	K562	blood:	n/a	n/a
12	CCNT2	chr7:5462110-5462301	K562	blood:	n/a	n/a
13	CCNT2	chr7:5459561-5459877	K562	blood:	n/a	n/a
14	CEBPB	chr7:5461811-5461912	Hela-S3	cervix:	n/a	n/a
15	CEBPD	chr7:5461416-5461890	HepG2	liver:	n/a	n/a
16	CEBPD	chr7:5461433-5462262	HepG2	liver:	n/a	n/a
17	CEBPZ	chr7:5461452-5461635	HepG2	liver:	n/a	n/a
18	CHD1	chr7:5461427-5461619	GM12878	blood:	n/a	n/a
19	CHD1	chr7:5460092-5460173	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD1	chr7:5462192-5462677	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD1	chr7:5461920-5461937	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr7:5460389-5460613	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr7:5460806-5460952	K562	blood:	n/a	n/a
24	CHD2	chr7:5459815-5459892	Hela-S3	cervix:	n/a	n/a
25	CHD2	chr7:5461963-5462073	K562	blood:	n/a	n/a
26	CHD2	chr7:5461237-5462035	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr7:5462253-5462436	Hela-S3	cervix:	n/a	n/a
28	CHD2	chr7:5461556-5462192	HepG2	liver:	n/a	n/a
29	CREB1	chr7:5461512-5461806	A549	lung:	n/a	n/a
30	CTBP2	chr7:5458026-5461203	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTBP2	chr7:5461628-5462278	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr7:5461260-5461410	HUVEC	blood vessel:	n/a	n/a
33	CTCF	chr7:5460740-5460890	GM12874	blood:	n/a	n/a
34	CTCF	chr7:5461180-5461330	GM12871	blood:	n/a	n/a
35	CTCF	chr7:5460100-5460250	HepG2	liver:	n/a	n/a
36	CTCF	chr7:5461180-5461330	GM06990	blood:	n/a	n/a
37	CTCF	chr7:5460260-5460410	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr7:5461720-5461870	SK-N-SH_RA	brain:	n/a	chr7:5461739-5461752
39	CTCF	chr7:5461960-5462110	RPTEC	kidney:	n/a	n/a
40	E2F4	chr7:5459544-5459855	MCF10A-Er-Src	breast:	n/a	n/a
41	E2F4	chr7:5462004-5462204	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F4	chr7:5461625-5461654	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F6	chr7:5460861-5461170	K562	blood:	n/a	chr7:5460975-5460984
44	E2F6	chr7:5460683-5460850	K562	blood:	n/a	n/a
45	EGR1	chr7:5460593-5460909	K562	blood:	n/a	n/a
46	EGR1	chr7:5460679-5460854	K562	blood:	n/a	n/a
47	ELF1	chr7:5461482-5461783	HepG2	liver:	n/a	n/a
48	ELK1	chr7:5461541-5461611	Hela-S3	cervix:	n/a	n/a
49	ELK1	chr7:5461515-5461585	K562	blood:	n/a	n/a
50	EP300	chr7:5462395-5462594	K562	blood:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:5461417-5461467	GM12892	blood:	n/a
2	chr7:5461852-5461902	Jurkat	blood:	n/a
3	chr7:5461312-5461362	AG09309	skin:	n/a
4	chr7:5461312-5461362	HL-60	blood:	n/a
5	chr7:5461852-5461902	AG04449	skin:	fetal
6	chr7:5461312-5461362	NH-A	brain:	n/a
7	chr7:5461417-5461467	HEK293	kidney:	embryo
8	chr7:5460496-5460546	Hela-S3	cervix:	n/a
9	chr7:5460916-5460966	SAEC	small airway:	n/a
10	chr7:5461312-5461362	U87	brain:	n/a
11	chr7:5460916-5460966	HRE	kidney:	n/a
12	chr7:5461312-5461362	HRPEpiC	eye:	n/a
13	chr7:5461852-5461902	HAEpiC	amniotic membrane:	n/a
14	chr7:5462104-5462154	HRCEpiC	kidney:	n/a
15	chr7:5461480-5461530	CMK	blood:	n/a
16	chr7:5461417-5461467	HCM	heart:	n/a
17	chr7:5460916-5460966	SK-N-SH	brain:	n/a
18	chr7:5461480-5461530	Caco-2	colon:	n/a
19	chr7:5462104-5462154	SAEC	small airway:	n/a
20	chr7:5462104-5462154	BJ	skin:	n/a
21	chr7:5462185-5462235	SKMC	muscle:	n/a
22	chr7:5461480-5461530	ovcar-3	ovarian:	n/a
23	chr7:5461852-5461902	Caco-2	colon:	n/a
24	chr7:5461480-5461530	ECC-1	luminal epithelium:	n/a
25	chr7:5461312-5461362	CMK	blood:	n/a
26	chr7:5462185-5462235	AoSMC	blood vessel:	n/a
27	chr7:5461312-5461362	SK-N-SH	brain:	n/a
28	chr7:5461417-5461467	SK-N-SH_RA	brain:	n/a
29	chr7:5460916-5460966	BJ	skin:	n/a
30	chr7:5461417-5461467	HUVEC	blood vessel:	n/a
31	chr7:5461417-5461467	NHBE	bronchial:	n/a
32	chr7:5461852-5461902	ovcar-3	ovarian:	n/a
33	chr7:5460496-5460546	HNPCEpiC	eye:	n/a
34	chr7:5461312-5461362	GM06990	blood:	n/a
35	chr7:5462185-5462235	GM12891	blood:	n/a
36	chr7:5460496-5460546	T-47D	breast:	n/a
37	chr7:5462104-5462154	K562	blood:	n/a
38	chr7:5461312-5461362	NB4	blood:	n/a
39	chr7:5462104-5462154	T-47D	breast:	n/a
40	chr7:5460916-5460966	HepG2	liver:	n/a
41	chr7:5462104-5462154	HMEC	breast:	n/a
42	chr7:5462104-5462154	Hepatocyte	liver:	n/a
43	chr7:5461312-5461362	HCM	heart:	n/a
44	chr7:5461417-5461467	Jurkat	blood:	n/a
45	chr7:5461417-5461467	HIPEpiC	eye:	n/a
46	chr7:5460496-5460546	AG09319	gingival:	n/a
47	chr7:5462104-5462154	HL-60	blood:	n/a
48	chr7:5461852-5461902	AG09309	skin:	n/a
49	chr7:5462185-5462235	HAEpiC	amniotic membrane:	n/a
50	chr7:5460496-5460546	A549	lung:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:5458325..5461852-chr7:5568883..5572530,6	MCF-7	breast:
2	chr7:5458614..5460773-chr7:5569317..5571189,3	K562	blood:
3	chr7:5398333..5402511-chr7:5462239..5467709,7	MCF-7	breast:
4	chr7:5414075..5415824-chr7:5461011..5462716,2	MCF-7	breast:
5	chr20:2632623..2634582-chr7:5461958..5464566,2	MCF-7	breast:
6	chr7:5412818..5415236-chr7:5460395..5461956,2	MCF-7	breast:
7	chr7:5462317..5470347-chr7:5568581..5572906,13	K562	blood:
8	chr7:5460438..5462516-chr7:5632091..5633708,2	MCF-7	breast:
9	chr7:5460499..5462743-chr7:5492822..5495371,2	K562	blood:
10	chr7:5459451..5462326-chr7:5602186..5603926,2	MCF-7	breast:
11	chr7:5458987..5464555-chr7:5593156..5597256,5	K562	blood:
12	chr20:46130649..46132818-chr7:5462034..5464384,2	MCF-7	breast:
13	chr17:56735283..56737163-chr7:5461996..5464640,2	MCF-7	breast:
14	chr7:5402886..5404515-chr7:5460414..5462815,2	MCF-7	breast:
15	chr7:5399888..5401937-chr7:5461333..5463414,2	MCF-7	breast:
16	chr7:5462099..5465141-chr7:5569968..5573480,4	MCF-7	breast:
17	chr17:59475645..59478788-chr7:5462326..5465715,3	MCF-7	breast:
18	chr7:5458325..5469295-chr7:5567159..5574053,21	MCF-7	breast:
19	chr7:5427419..5438627-chr7:5461902..5471481,26	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC29A4-1	chr7:5459477-5459899	ENSG00000188365.3
2	lnc-SLC29A4-1	chr7:5459967-5460398	ENSG00000241269.1

No data

Variant related genes	Relation type
ENSG00000272953	TF binding region
ENSG00000272953	CpG island
ENSG00000101361	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000267131	chromatin interactions
ENSG00000075624	chromatin interactions
ENSG00000182095	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000263900	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000075618	chromatin interactions
ENSG00000272719	chromatin interactions
ENSG00000221062	chromatin interactions
ENSG00000124151	chromatin interactions

Extended variants
information (count: 111 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113299135	chr7:5459857-5459858	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
2	rs551794902	chr7:5459865-5459866	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs570348154	chr7:5459870-5459871	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs535647611	chr7:5459893-5459894	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs537768910	chr7:5459912-5459913	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs36076798	chr7:5459917-5459918	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs115815937	chr7:5459920-5459921	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs377319881	chr7:5459942-5459943	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs535229051	chr7:5459956-5459957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs75583325	chr7:5459984-5459985	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs187001756	chr7:5459985-5459986	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs545470154	chr7:5459998-5459999	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs75626029	chr7:5460036-5460037	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs573998825	chr7:5460074-5460075	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs575906695	chr7:5460102-5460103	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs543280979	chr7:5460136-5460137	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs561660031	chr7:5460165-5460166	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs56399861	chr7:5460201-5460202	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs183353156	chr7:5460205-5460206	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
20	rs75693361	chr7:5460250-5460251	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs559583993	chr7:5460251-5460252	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs533502933	chr7:5460311-5460312	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs551463696	chr7:5460321-5460322	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs375124897	chr7:5460325-5460326	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs550455323	chr7:5460335-5460336	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs530944050	chr7:5460337-5460338	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs549657899	chr7:5460354-5460355	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs567961285	chr7:5460381-5460382	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs35273204	chr7:5460391-5460392	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
30	rs113626522	chr7:5460452-5460453	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs547210947	chr7:5460469-5460470	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs565621557	chr7:5460476-5460477	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs139552678	chr7:5460518-5460519	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs79032618	chr7:5460550-5460551	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs188362071	chr7:5460560-5460561	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs575594973	chr7:5460591-5460592	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs536653759	chr7:5460613-5460614	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs555241460	chr7:5460617-5460618	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs573919548	chr7:5460625-5460626	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs371906159	chr7:5460658-5460659	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs141061541	chr7:5460660-5460661	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs374194468	chr7:5460666-5460667	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs368797614	chr7:5460669-5460670	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs150268036	chr7:5460704-5460705	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs563781355	chr7:5460717-5460718	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs112415716	chr7:5460721-5460722	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs530879698	chr7:5460748-5460749	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs549445469	chr7:5460756-5460757	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs374758619	chr7:5460839-5460840	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs556246102	chr7:5460901-5460902	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21525872	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Cancer	20164919	CNVD

Chromatin state (count:276 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5457000-5461400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:5457200-5461000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
3	chr7:5457600-5461000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:5457800-5461400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:5458000-5460200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr7:5458000-5460200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
7	chr7:5458000-5460400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
8	chr7:5458000-5461000	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr7:5458000-5461200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:5458000-5461600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
11	chr7:5458200-5460800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
12	chr7:5458200-5460800	Transcr. at gene 5' and 3'	Fetal Lung	lung
13	chr7:5458400-5460400	Bivalent/Poised TSS	Thymus	Thymus
14	chr7:5458400-5461000	Transcr. at gene 5' and 3'	NHLF	lung
15	chr7:5458400-5462800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr7:5458400-5462800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr7:5458400-5469800	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr7:5458600-5460200	Active TSS	Fetal Brain Female	brain
19	chr7:5458600-5460600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
20	chr7:5458600-5460800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
21	chr7:5458600-5460800	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr7:5458600-5460800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:5458600-5468200	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr7:5458600-5469400	Active TSS	Aorta	Aorta
25	chr7:5458600-5469400	Active TSS	Psoas Muscle	Psoas
26	chr7:5458600-5469800	Active TSS	Fetal Kidney	kidney
27	chr7:5458800-5460000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
28	chr7:5458800-5460200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:5458800-5462800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
30	chr7:5458800-5462800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:5458800-5462800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr7:5458800-5467000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:5458800-5468000	Active TSS	Brain Angular Gyrus	brain
34	chr7:5458800-5469400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:5458800-5469400	Active TSS	NHDF-Ad	bronchial
36	chr7:5458800-5469600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:5458800-5469600	Active TSS	Colon Smooth Muscle	Colon
38	chr7:5458800-5469800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:5458800-5470000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:5458800-5470000	Active TSS	HSMMtube	muscle
41	chr7:5459000-5460000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:5459000-5460200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:5459000-5460200	Weak transcription	K562	blood
44	chr7:5459000-5460600	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr7:5459000-5461000	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
46	chr7:5459000-5461000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
47	chr7:5459000-5463800	Active TSS	Right Atrium	heart
48	chr7:5459000-5467000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:5459000-5467800	Active TSS	Brain Cingulate Gyrus	brain
50	chr7:5459000-5468000	Active TSS	Brain Substantia Nigra	brain

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