Variant report

Variant	esv3358756
Chromosome Location	chr7:150715069-150717867
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:507)
CpG islands
(count:428)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:507 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:150715399-150715447	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:150715273-150715568	K562	blood:	n/a	n/a
3	ATF2	chr7:150715230-150715605	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr7:150715719-150715766	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr7:150715125-150715421	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr7:150714984-150715499	K562	blood:	n/a	n/a
7	BCL3	chr7:150715018-150715482	A549	lung:	n/a	n/a
8	BHLHE40	chr7:150715301-150715905	GM12878	blood:	n/a	n/a
9	BHLHE40	chr7:150714691-150715773	K562	blood:	n/a	n/a
10	CBX3	chr7:150715305-150715660	K562	blood:	n/a	n/a
11	CBX3	chr7:150714425-150715770	K562	blood:	n/a	n/a
12	CBX3	chr7:150716535-150716892	K562	blood:	n/a	n/a
13	CCNT2	chr7:150716348-150716356	K562	blood:	n/a	n/a
14	CCNT2	chr7:150714756-150715838	K562	blood:	n/a	chr7:150715186-150715206
15	CEBPB	chr7:150715410-150715758	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD1	chr7:150715515-150715628	GM12878	blood:	n/a	n/a
17	CHD1	chr7:150715396-150715481	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr7:150716034-150716039	K562	blood:	n/a	n/a
19	CHD2	chr7:150715048-150715674	K562	blood:	n/a	n/a
20	CHD2	chr7:150715409-150715478	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr7:150715327-150715589	GM12878	blood:	n/a	n/a
22	CHD2	chr7:150715372-150716098	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr7:150715191-150715508	HepG2	liver:	n/a	n/a
24	CREB1	chr7:150715166-150716220	H1-hESC	embryonic stem cell:	n/a	n/a
25	CREB1	chr7:150715322-150715545	A549	lung:	n/a	n/a
26	CTCF	chr7:150716620-150716770	NHEK	skin:	n/a	n/a
27	CTCF	chr7:150715306-150715524	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chr7:150716600-150716750	GM12864	blood:	n/a	n/a
29	CTCF	chr7:150715320-150715470	GM12868	blood:	n/a	n/a
30	CTCF	chr7:150715320-150715470	HPF	lung:	n/a	n/a
31	CTCF	chr7:150715360-150715510	GM12872	blood:	n/a	n/a
32	CTCF	chr7:150716680-150716830	MCF-7	breast:	n/a	n/a
33	CTCF	chr7:150715271-150715568	GM13977	blood:	n/a	n/a
34	CTCF	chr7:150715340-150715490	SAEC	small airway:	n/a	n/a
35	CTCF	chr7:150716660-150716810	SAEC	small airway:	n/a	n/a
36	CTCF	chr7:150714992-150715842	HCT-116	colon:	n/a	n/a
37	CTCF	chr7:150716620-150716770	HVMF	connective:	n/a	n/a
38	CTCF	chr7:150716660-150716810	GM12870	blood:	n/a	n/a
39	CTCF	chr7:150715360-150715510	GM12871	blood:	n/a	n/a
40	CTCF	chr7:150715084-150715216	GM19239	blood:	n/a	n/a
41	CTCF	chr7:150716420-150716570	HCM	heart:	n/a	n/a
42	CTCF	chr7:150715262-150715562	LNCaP	prostate:	n/a	n/a
43	CTCF	chr7:150715320-150715470	HMEC	breast:	n/a	n/a
44	CTCF	chr7:150716620-150716770	GM12865	blood:	n/a	n/a
45	CTCF	chr7:150715224-150715585	GM19240	blood:	n/a	n/a
46	CTCF	chr7:150716660-150716810	HRE	kidney:	n/a	n/a
47	CTCF	chr7:150715340-150715490	GM12864	blood:	n/a	n/a
48	CTCF	chr7:150716600-150716750	HA-sp	spinal cord:	n/a	n/a
49	CTCF	chr7:150715182-150715555	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr7:150715340-150715490	GM12873	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150716072-150716122	ECC-1	luminal epithelium:	n/a
2	chr7:150716072-150716122	ECC-1	luminal epithelium:	n/a
3	chr7:150716366-150716416	Jurkat	blood:	n/a
4	chr7:150715831-150715881	HUVEC	blood vessel:	n/a
5	chr7:150716072-150716122	AG09319	gingival:	n/a
6	chr7:150716029-150716079	PFSK-1	brain:	n/a
7	chr7:150716366-150716416	PrEC	prostate:	n/a
8	chr7:150716366-150716416	LNCaP	prostate:	n/a
9	chr7:150716072-150716122	GM06990	blood:	n/a
10	chr7:150715214-150715264	BJ	skin:	n/a
11	chr7:150715634-150715684	A549	lung:	n/a
12	chr7:150715831-150715881	HCF	heart:	n/a
13	chr7:150715634-150715684	ovcar-3	ovarian:	n/a
14	chr7:150716029-150716079	AG10803	skin:	n/a
15	chr7:150717629-150717679	GM12891	blood:	n/a
16	chr7:150716072-150716122	BJ	skin:	n/a
17	chr7:150715831-150715881	GM12878	blood:	n/a
18	chr7:150715634-150715684	H1-hESC	embryonic stem cell:	embryo
19	chr7:150716029-150716079	Hela-S3	cervix:	n/a
20	chr7:150715831-150715881	HRCEpiC	kidney:	n/a
21	chr7:150715634-150715684	HEEpiC	esophagus:	n/a
22	chr7:150716029-150716079	ECC-1	luminal epithelium:	n/a
23	chr7:150715634-150715684	MCF-7	breast:	n/a
24	chr7:150715634-150715684	GM12892	blood:	n/a
25	chr7:150716366-150716416	HAEpiC	amniotic membrane:	n/a
26	chr7:150715214-150715264	AG10803	skin:	n/a
27	chr7:150716366-150716416	AG09319	gingival:	n/a
28	chr7:150715634-150715684	U87	brain:	n/a
29	chr7:150715214-150715264	K562	blood:	n/a
30	chr7:150715831-150715881	A549	lung:	n/a
31	chr7:150716029-150716079	LNCaP	prostate:	n/a
32	chr7:150715831-150715881	HCM	heart:	n/a
33	chr7:150716029-150716079	ProgFib	skin:	n/a
34	chr7:150716366-150716416	SK-N-SH_RA	brain:	n/a
35	chr7:150716366-150716416	A549	lung:	n/a
36	chr7:150716366-150716416	MCF-7	breast:	n/a
37	chr7:150717629-150717679	AG04449	skin:	fetal
38	chr7:150715634-150715684	GM12891	blood:	n/a
39	chr7:150715831-150715881	HMEC	breast:	n/a
40	chr7:150715634-150715684	HCT-116	colon:	n/a
41	chr7:150715214-150715264	H1-hESC	embryonic stem cell:	embryo
42	chr7:150716366-150716416	HIPEpiC	eye:	n/a
43	chr7:150715831-150715881	HEK293	kidney:	embryo
44	chr7:150716029-150716079	HEK293	kidney:	embryo
45	chr7:150717629-150717679	NH-A	brain:	n/a
46	chr7:150715831-150715881	SK-N-MC	brain:	n/a
47	chr7:150715214-150715264	HCT-116	colon:	n/a
48	chr7:150715831-150715881	LNCaP	prostate:	n/a
49	chr7:150716029-150716079	Hepatocyte	liver:	n/a
50	chr7:150715634-150715684	SK-N-SH	brain:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150682825..150683700-chr7:150715137..150715857,2	K562	blood:
2	chr7:150708483..150712186-chr7:150712647..150718557,9	MCF-7	breast:
3	chr7:150659964..150660756-chr7:150714935..150715624,4	K562	blood:
4	chr7:150475528..150476481-chr7:150715209..150715717,2	K562	blood:
5	chr7:150713297..150718122-chr7:150719622..150723511,6	MCF-7	breast:
6	chr7:150575333..150577357-chr7:150717786..150719549,2	K562	blood:
7	chr7:150705881..150707323-chr7:150714964..150716387,6	K562	blood:
8	chr7:150475548..150476095-chr7:150715046..150715683,2	MCF-7	breast:
9	chr7:150713283..150718085-chr7:150719345..150725201,8	MCF-7	breast:
10	chr7:150677750..150680138-chr7:150716469..150718503,2	MCF-7	breast:
11	chr7:150663098..150663704-chr7:150714962..150715654,2	MCF-7	breast:
12	chr7:150659969..150660714-chr7:150715006..150715747,3	MCF-7	breast:
13	chr7:150661683..150662564-chr7:150714931..150715681,2	K562	blood:
14	chr7:150705619..150708029-chr7:150714028..150715967,2	MCF-7	breast:
15	chr7:150663039..150663716-chr7:150714870..150715859,2	K562	blood:
16	chr7:150686266..150688164-chr7:150713918..150716520,2	MCF-7	breast:

No data

Variant related genes	Relation type
ATG9B	TF binding region
ATG9B	CpG island
ENSG00000164867	chromatin interactions
ENSG00000181652	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559194133	chr7:150715075-150715076	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs368715970	chr7:150715090-150715091	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs528232621	chr7:150715093-150715094	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs371218216	chr7:150715095-150715096	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs374715533	chr7:150715097-150715098	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs564731056	chr7:150715099-150715100	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs532661082	chr7:150715109-150715110	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs369244144	chr7:150715141-150715142	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs371698157	chr7:150715157-150715158	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs376268198	chr7:150715170-150715171	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs570039652	chr7:150715177-150715178	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs535852707	chr7:150715228-150715229	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs549457653	chr7:150715241-150715242	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs201470938	chr7:150715296-150715297	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs369471217	chr7:150715383-150715384	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs374152766	chr7:150715390-150715391	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs566030667	chr7:150715393-150715394	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs377704592	chr7:150715426-150715427	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs535167096	chr7:150715456-150715457	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs557643470	chr7:150715478-150715479	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs577799944	chr7:150715544-150715545	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs369976021	chr7:150715555-150715556	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs200560417	chr7:150715577-150715578	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs536911082	chr7:150715585-150715586	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs191756802	chr7:150715599-150715600	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs573261959	chr7:150715602-150715603	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs542208414	chr7:150715652-150715653	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs374596040	chr7:150715658-150715659	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs201514661	chr7:150715707-150715708	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs376091617	chr7:150715744-150715745	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs370556855	chr7:150715764-150715765	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs373944093	chr7:150715769-150715770	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs572833302	chr7:150715803-150715804	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs545123457	chr7:150715810-150715811	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs1835428	chr7:150715817-150715818	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs7804893	chr7:150715947-150715948	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs370720172	chr7:150716029-150716030	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs373935869	chr7:150716036-150716037	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs374334923	chr7:150716095-150716096	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs368435711	chr7:150716096-150716097	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs549104406	chr7:150716104-150716105	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs566093054	chr7:150716112-150716113	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs144487907	chr7:150716131-150716132	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs113768546	chr7:150716141-150716142	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs551866975	chr7:150716160-150716161	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs571324054	chr7:150716310-150716311	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs536858730	chr7:150716357-150716358	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs370967913	chr7:150716359-150716360	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs374638573	chr7:150716378-150716379	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs556780378	chr7:150716404-150716405	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Ovarian cancer	21781307	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:398 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150711400-150715200	Weak transcription	Gastric	stomach
2	chr7:150711400-150715200	Weak transcription	Right Atrium	heart
3	chr7:150711600-150715200	Weak transcription	Brain Hippocampus Middle	brain
4	chr7:150711600-150715200	Weak transcription	Esophagus	oesophagus
5	chr7:150711600-150716800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:150713000-150715200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:150713200-150715600	Enhancers	Spleen	Spleen
8	chr7:150714200-150715800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
9	chr7:150714400-150715800	Flanking Active TSS	Dnd41	blood
10	chr7:150714400-150716000	Flanking Bivalent TSS/Enh	HepG2	liver
11	chr7:150714600-150715200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr7:150714600-150715200	Enhancers	Placenta	Placenta
13	chr7:150714600-150715400	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr7:150714600-150715600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:150714600-150715800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:150714600-150715800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr7:150714600-150715800	Flanking Active TSS	K562	blood
18	chr7:150714600-150716200	Bivalent Enhancer	Fetal Brain Male	brain
19	chr7:150714600-150716400	Enhancers	Lung	lung
20	chr7:150714600-150716600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr7:150714600-150716600	Bivalent Enhancer	Stomach Mucosa	stomach
22	chr7:150714600-150717000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:150714800-150715200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:150714800-150715200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:150714800-150715200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:150714800-150715200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr7:150714800-150715200	Bivalent Enhancer	Adipose Nuclei	Adipose
28	chr7:150714800-150715200	Bivalent Enhancer	Colonic Mucosa	Colon
29	chr7:150714800-150715200	Bivalent Enhancer	Fetal Stomach	stomach
30	chr7:150714800-150715200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
31	chr7:150714800-150715400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:150714800-150715400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
33	chr7:150714800-150715600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:150714800-150715600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:150714800-150715600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:150714800-150715600	Bivalent Enhancer	Fetal Intestine Small	intestine
37	chr7:150714800-150715800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
38	chr7:150714800-150715800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr7:150714800-150715800	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr7:150714800-150715800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr7:150714800-150715800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr7:150714800-150715800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr7:150714800-150715800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:150714800-150715800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:150714800-150715800	Enhancers	HUVEC	blood vessel
46	chr7:150714800-150716400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr7:150714800-150716400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
48	chr7:150715000-150715200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:150715000-150715200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
50	chr7:150715000-150715200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung

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