Variant report

Variant	esv3374736
Chromosome Location	chr7:150714644-150717192
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:527)
CpG islands
(count:427)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:527 , 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	chr7:150715273-150715568	K562	blood:	n/a	n/a
2	ARID3A	chr7:150715399-150715447	HepG2	liver:	n/a	n/a
3	ATF2	chr7:150715230-150715605	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr7:150715125-150715421	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr7:150714984-150715499	K562	blood:	n/a	n/a
6	BACH1	chr7:150715719-150715766	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr7:150715018-150715482	A549	lung:	n/a	n/a
8	BHLHE40	chr7:150714862-150714863	HepG2	liver:	n/a	n/a
9	BHLHE40	chr7:150715301-150715905	GM12878	blood:	n/a	n/a
10	BHLHE40	chr7:150714691-150715773	K562	blood:	n/a	n/a
11	CBX3	chr7:150716535-150716892	K562	blood:	n/a	n/a
12	CBX3	chr7:150714425-150715770	K562	blood:	n/a	n/a
13	CBX3	chr7:150715305-150715660	K562	blood:	n/a	n/a
14	CCNT2	chr7:150714756-150715838	K562	blood:	n/a	chr7:150715186-150715206
15	CCNT2	chr7:150716348-150716356	K562	blood:	n/a	n/a
16	CEBPB	chr7:150715410-150715758	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD1	chr7:150715515-150715628	GM12878	blood:	n/a	n/a
18	CHD1	chr7:150715396-150715481	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr7:150715327-150715589	GM12878	blood:	n/a	n/a
20	CHD2	chr7:150715048-150715674	K562	blood:	n/a	n/a
21	CHD2	chr7:150716034-150716039	K562	blood:	n/a	n/a
22	CHD2	chr7:150715191-150715508	HepG2	liver:	n/a	n/a
23	CHD2	chr7:150715409-150715478	Hela-S3	cervix:	n/a	n/a
24	CHD2	chr7:150715372-150716098	H1-hESC	embryonic stem cell:	n/a	n/a
25	CREB1	chr7:150715166-150716220	H1-hESC	embryonic stem cell:	n/a	n/a
26	CREB1	chr7:150715322-150715545	A549	lung:	n/a	n/a
27	CTCF	chr7:150715320-150715470	GM12866	blood:	n/a	n/a
28	CTCF	chr7:150715320-150715470	HCFaa	heart:	n/a	n/a
29	CTCF	chr7:150715320-150715470	HBMEC	blood vessel:	n/a	n/a
30	CTCF	chr7:150716600-150716750	BJ	skin:	n/a	n/a
31	CTCF	chr7:150715340-150715490	K562	blood:	n/a	n/a
32	CTCF	chr7:150715340-150715490	NHEK	skin:	n/a	n/a
33	CTCF	chr7:150715340-150715490	AG09319	gingival:	n/a	n/a
34	CTCF	chr7:150715275-150715548	MCF-7	breast:	n/a	n/a
35	CTCF	chr7:150716640-150716790	MCF-7	breast:	n/a	n/a
36	CTCF	chr7:150715340-150715490	HL-60	blood:	n/a	n/a
37	CTCF	chr7:150715232-150715605	Spleen_OC	spleen:	n/a	n/a
38	CTCF	chr7:150715264-150715561	Fibrobl	skin:	n/a	n/a
39	CTCF	chr7:150715189-150715624	GM12878	blood:	n/a	n/a
40	CTCF	chr7:150715173-150715632	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr7:150715271-150715568	GM13977	blood:	n/a	n/a
42	CTCF	chr7:150714992-150715842	HCT-116	colon:	n/a	n/a
43	CTCF	chr7:150715674-150715741	GM19240	blood:	n/a	n/a
44	CTCF	chr7:150715360-150715510	HMEC	breast:	n/a	n/a
45	CTCF	chr7:150716680-150716830	HA-sp	spinal cord:	n/a	n/a
46	CTCF	chr7:150714757-150714875	GM19239	blood:	n/a	n/a
47	CTCF	chr7:150716620-150716770	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr7:150715320-150715470	GM12865	blood:	n/a	n/a
49	CTCF	chr7:150716620-150716770	NHEK	skin:	n/a	n/a
50	CTCF	chr7:150715262-150715562	LNCaP	prostate:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150716366-150716416	MCF10A-Er-Src	breast:	n/a
2	chr7:150714809-150714859	U87	brain:	n/a
3	chr7:150716366-150716416	ECC-1	luminal epithelium:	n/a
4	chr7:150716029-150716079	NH-A	brain:	n/a
5	chr7:150714809-150714859	Caco-2	colon:	n/a
6	chr7:150715831-150715881	HRE	kidney:	n/a
7	chr7:150716366-150716416	HCT-116	colon:	n/a
8	chr7:150716366-150716416	PFSK-1	brain:	n/a
9	chr7:150716072-150716122	RPTEC	kidney:	n/a
10	chr7:150715831-150715881	HL-60	blood:	n/a
11	chr7:150715831-150715881	HepG2	liver:	n/a
12	chr7:150716366-150716416	MCF-7	breast:	n/a
13	chr7:150715831-150715881	HUVEC	blood vessel:	n/a
14	chr7:150715634-150715684	GM12891	blood:	n/a
15	chr7:150715214-150715264	HepG2	liver:	n/a
16	chr7:150716366-150716416	HEK293	kidney:	embryo
17	chr7:150716366-150716416	Hela-S3	cervix:	n/a
18	chr7:150715831-150715881	ovcar-3	ovarian:	n/a
19	chr7:150715831-150715881	NT2-D1	testis:	n/a
20	chr7:150716366-150716416	GM19239	blood:	n/a
21	chr7:150716072-150716122	HAEpiC	amniotic membrane:	n/a
22	chr7:150715831-150715881	H1-hESC	embryonic stem cell:	embryo
23	chr7:150715214-150715264	PrEC	prostate:	n/a
24	chr7:150715634-150715684	H1-hESC	embryonic stem cell:	embryo
25	chr7:150714809-150714859	Hepatocyte	liver:	n/a
26	chr7:150715214-150715264	BJ	skin:	n/a
27	chr7:150715214-150715264	HUVEC	blood vessel:	n/a
28	chr7:150715831-150715881	GM12891	blood:	n/a
29	chr7:150716072-150716122	HepG2	liver:	n/a
30	chr7:150714809-150714859	MCF-7	breast:	n/a
31	chr7:150714809-150714859	SK-N-MC	brain:	n/a
32	chr7:150716029-150716079	HUVEC	blood vessel:	n/a
33	chr7:150714809-150714859	HPAEpiC	pulmonary alveolar:	n/a
34	chr7:150716029-150716079	GM12892	blood:	n/a
35	chr7:150715831-150715881	IMR90	lung:	fetal
36	chr7:150716072-150716122	MCF-7	breast:	n/a
37	chr7:150715831-150715881	HCT-116	colon:	n/a
38	chr7:150714809-150714859	PFSK-1	brain:	n/a
39	chr7:150716366-150716416	AG09319	gingival:	n/a
40	chr7:150715214-150715264	HMEC	breast:	n/a
41	chr7:150716366-150716416	AoSMC	blood vessel:	n/a
42	chr7:150716072-150716122	Caco-2	colon:	n/a
43	chr7:150715634-150715684	HAEpiC	amniotic membrane:	n/a
44	chr7:150715214-150715264	GM12891	blood:	n/a
45	chr7:150715214-150715264	BE2_C	brain:	n/a
46	chr7:150716072-150716122	IMR90	lung:	fetal
47	chr7:150716366-150716416	HCM	heart:	n/a
48	chr7:150716029-150716079	ProgFib	skin:	n/a
49	chr7:150715831-150715881	AG09309	skin:	n/a
50	chr7:150715214-150715264	ovcar-3	ovarian:	n/a

(count:15 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ATG9B	TF binding region
ATG9B	CpG island
ENSG00000181652	chromatin interactions
ENSG00000164867	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	rs1077871	chr7:150714644-150714645	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs186797335	chr7:150714645-150714646	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs548031521	chr7:150714673-150714674	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs147611122	chr7:150714690-150714691	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs540176803	chr7:150714695-150714696	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs6946598	chr7:150714719-150714720	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs1077872	chr7:150714746-150714747	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs535919000	chr7:150714810-150714811	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs2373929	chr7:150714812-150714813	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
10	rs572157921	chr7:150714813-150714814	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs578123226	chr7:150714821-150714822	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs545433619	chr7:150714839-150714840	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs142290541	chr7:150714867-150714868	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs114606837	chr7:150714899-150714900	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs543338023	chr7:150714931-150714932	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs562927115	chr7:150714949-150714950	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs372568998	chr7:150714969-150714970	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs573315410	chr7:150714981-150714982	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs75805614	chr7:150714991-150714992	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150710000-150714800	Weak transcription	HUVEC	blood vessel
2	chr7:150710200-150715000	Weak transcription	A549	lung
3	chr7:150711400-150715000	Weak transcription	Pancreas	Pancrea
4	chr7:150711400-150715200	Weak transcription	Gastric	stomach
5	chr7:150711400-150715200	Weak transcription	Right Atrium	heart
6	chr7:150711600-150714800	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr7:150711600-150715000	Weak transcription	Brain Anterior Caudate	brain
8	chr7:150711600-150715000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:150711600-150715000	Weak transcription	Left Ventricle	heart
10	chr7:150711600-150715200	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:150711600-150715200	Weak transcription	Esophagus	oesophagus
12	chr7:150711600-150716800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:150711800-150714800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:150712000-150714800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr7:150712200-150714800	Weak transcription	Primary B cells from cord blood	blood
16	chr7:150712200-150714800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:150712400-150714800	Enhancers	Primary T cells from cord blood	blood
18	chr7:150712400-150714800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr7:150712600-150714800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr7:150712600-150714800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:150713000-150715200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:150713200-150715600	Enhancers	Spleen	Spleen
23	chr7:150713400-150714800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:150713800-150714800	Enhancers	Fetal Thymus	thymus
25	chr7:150713800-150715000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:150714000-150715000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr7:150714200-150715000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr7:150714200-150715000	Enhancers	Placenta Amnion	Placenta Amnion
29	chr7:150714200-150715800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
30	chr7:150714400-150714800	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:150714400-150714800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr7:150714400-150714800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:150714400-150715000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
34	chr7:150714400-150715000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:150714400-150715000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
36	chr7:150714400-150715000	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr7:150714400-150715000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:150714400-150715000	Bivalent Enhancer	Thymus	Thymus
39	chr7:150714400-150715800	Flanking Active TSS	Dnd41	blood
40	chr7:150714400-150716000	Flanking Bivalent TSS/Enh	HepG2	liver
41	chr7:150714600-150714800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
42	chr7:150714600-150714800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:150714600-150714800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:150714600-150714800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:150714600-150714800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:150714600-150714800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:150714600-150714800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:150714600-150714800	Enhancers	Duodenum Mucosa	Duodenum
49	chr7:150714600-150714800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
50	chr7:150714600-150715000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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