Variant report

Variant	nsv889473
Chromosome Location	chr7:150705413-150709571
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:675)
CpG islands
(count:672)
Chromatin interactive
region (count:8)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:675 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:150705096-150706111	K562	blood:	n/a	n/a
2	ARID3A	chr7:150707551-150707746	K562	blood:	n/a	n/a
3	ATF1	chr7:150705143-150706133	K562	blood:	n/a	n/a
4	ATF2	chr7:150705746-150706227	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr7:150706455-150706881	K562	blood:	n/a	n/a
6	BACH1	chr7:150707503-150707744	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr7:150705850-150706094	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr7:150707629-150707768	K562	blood:	n/a	n/a
9	BACH1	chr7:150705380-150706071	K562	blood:	n/a	n/a
10	BCLAF1	chr7:150705267-150706200	K562	blood:	n/a	n/a
11	BHLHE40	chr7:150707405-150708222	K562	blood:	n/a	n/a
12	BHLHE40	chr7:150705759-150706350	HepG2	liver:	n/a	n/a
13	BHLHE40	chr7:150705149-150706877	K562	blood:	n/a	n/a
14	BHLHE40	chr7:150705569-150706124	GM12878	blood:	n/a	n/a
15	BRCA1	chr7:150705614-150706020	H1-hESC	embryonic stem cell:	n/a	n/a
16	CBX3	chr7:150705114-150706132	K562	blood:	n/a	n/a
17	CBX3	chr7:150704584-150707060	K562	blood:	n/a	n/a
18	CBX3	chr7:150707102-150708607	K562	blood:	n/a	n/a
19	CCNT2	chr7:150706484-150706915	K562	blood:	n/a	n/a
20	CCNT2	chr7:150705157-150706237	K562	blood:	n/a	n/a
21	CCNT2	chr7:150707232-150707920	K562	blood:	n/a	n/a
22	CEBPB	chr7:150705104-150706135	K562	blood:	n/a	chr7:150705403-150705411
23	CEBPB	chr7:150705042-150706070	K562	blood:	n/a	chr7:150705403-150705411
24	CEBPD	chr7:150705686-150706009	HepG2	liver:	n/a	n/a
25	CEBPD	chr7:150705057-150706081	K562	blood:	n/a	n/a
26	CEBPD	chr7:150704723-150706889	K562	blood:	n/a	n/a
27	CHD2	chr7:150707587-150707851	HepG2	liver:	n/a	n/a
28	CHD2	chr7:150707494-150707744	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr7:150707430-150707989	K562	blood:	n/a	n/a
30	CHD2	chr7:150706272-150706275	HepG2	liver:	n/a	n/a
31	CHD2	chr7:150707013-150707140	K562	blood:	n/a	n/a
32	CHD2	chr7:150705619-150706076	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr7:150705249-150706411	K562	blood:	n/a	chr7:150706263-150706273
34	CHD2	chr7:150705857-150706057	HepG2	liver:	n/a	n/a
35	CHD2	chr7:150705671-150706146	GM12878	blood:	n/a	n/a
36	CTCF	chr7:150705900-150706050	GM12864	blood:	n/a	n/a
37	CTCF	chr7:150705841-150706130	GM19238	blood:	n/a	n/a
38	CTCF	chr7:150705890-150706056	MCF-7	breast:	n/a	n/a
39	CTCF	chr7:150707680-150707830	AG04449	skin:	n/a	n/a
40	CTCF	chr7:150705820-150705970	HFF	foreskin:	n/a	n/a
41	CTCF	chr7:150705940-150706090	NHLF	lung:	n/a	n/a
42	CTCF	chr7:150706320-150706470	GM12867	blood:	n/a	n/a
43	CTCF	chr7:150705820-150705970	AG04450	lung:	n/a	n/a
44	CTCF	chr7:150706000-150706150	MCF-7	breast:	n/a	n/a
45	CTCF	chr7:150706560-150706710	GM12874	blood:	n/a	n/a
46	CTCF	chr7:150706520-150706670	HRE	kidney:	n/a	n/a
47	CTCF	chr7:150706575-150706616	GM10248	blood:	n/a	n/a
48	CTCF	chr7:150705849-150706120	ProgFib	skin:	n/a	n/a
49	CTCF	chr7:150706547-150706627	Medullo	brain:	n/a	n/a
50	CTCF	chr7:150705820-150705970	HMEC	breast:	n/a	n/a

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150709463-150709513	ProgFib	skin:	n/a
2	chr7:150709463-150709513	ProgFib	skin:	n/a
3	chr7:150706128-150706178	BJ	skin:	n/a
4	chr7:150707830-150707880	HPAEpiC	pulmonary alveolar:	n/a
5	chr7:150706128-150706178	PANC-1	pancreas:	n/a
6	chr7:150707830-150707880	AoSMC	blood vessel:	n/a
7	chr7:150709463-150709513	NB4	blood:	n/a
8	chr7:150705760-150705810	SK-N-MC	brain:	n/a
9	chr7:150706268-150706318	LNCaP	prostate:	n/a
10	chr7:150709463-150709513	BJ	skin:	n/a
11	chr7:150705896-150705946	HCPEpiC	choroid plexus:	n/a
12	chr7:150706128-150706178	HL-60	blood:	n/a
13	chr7:150705896-150705946	SK-N-SH_RA	brain:	n/a
14	chr7:150707313-150707363	IMR90	lung:	fetal
15	chr7:150709463-150709513	CMK	blood:	n/a
16	chr7:150706268-150706318	HCM	heart:	n/a
17	chr7:150706128-150706178	HMEC	breast:	n/a
18	chr7:150706355-150706405	SAEC	small airway:	n/a
19	chr7:150706268-150706318	HAEpiC	amniotic membrane:	n/a
20	chr7:150706268-150706318	AG09319	gingival:	n/a
21	chr7:150705872-150705922	PrEC	prostate:	n/a
22	chr7:150706355-150706405	K562	blood:	n/a
23	chr7:150709463-150709513	HNPCEpiC	eye:	n/a
24	chr7:150706268-150706318	ProgFib	skin:	n/a
25	chr7:150705896-150705946	NHDF-neo	bronchial:	n/a
26	chr7:150709463-150709513	MCF-7	breast:	n/a
27	chr7:150706321-150706371	HRE	kidney:	n/a
28	chr7:150705872-150705922	BE2_C	brain:	n/a
29	chr7:150706321-150706371	MCF-7	breast:	n/a
30	chr7:150706128-150706178	AG04449	skin:	fetal
31	chr7:150707313-150707363	GM19239	blood:	n/a
32	chr7:150706268-150706318	Jurkat	blood:	n/a
33	chr7:150709463-150709513	HUVEC	blood vessel:	n/a
34	chr7:150705896-150705946	HMEC	breast:	n/a
35	chr7:150707830-150707880	A549	lung:	n/a
36	chr7:150707313-150707363	AG04450	lung:	fetal
37	chr7:150708968-150709018	K562	blood:	n/a
38	chr7:150705872-150705922	ovcar-3	ovarian:	n/a
39	chr7:150706321-150706371	U87	brain:	n/a
40	chr7:150706321-150706371	HNPCEpiC	eye:	n/a
41	chr7:150706321-150706371	GM12892	blood:	n/a
42	chr7:150705760-150705810	LNCaP	prostate:	n/a
43	chr7:150706355-150706405	HNPCEpiC	eye:	n/a
44	chr7:150706321-150706371	SK-N-SH_RA	brain:	n/a
45	chr7:150706268-150706318	U87	brain:	n/a
46	chr7:150709463-150709513	HCF	heart:	n/a
47	chr7:150709463-150709513	PrEC	prostate:	n/a
48	chr7:150708968-150709018	H1-hESC	embryonic stem cell:	embryo
49	chr7:150709463-150709513	SKMC	muscle:	n/a
50	chr7:150706128-150706178	Caco-2	colon:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150705481..150706887-chr7:150725454..150726471,3	K562	blood:
2	chr7:150706188..150708123-chr7:150710621..150712135,2	MCF-7	breast:
3	chr7:150703619..150706319-chr7:150708116..150709799,2	MCF-7	breast:
4	chr7:150703619..150706319-chr7:150708116..150709799,2	MCF-7	breast:
5	chr7:150708483..150712186-chr7:150712647..150718557,9	MCF-7	breast:
6	chr7:150702588..150705432-chr7:150714534..150717607,5	MCF-7	breast:
7	chr7:150705881..150707323-chr7:150714964..150716387,6	K562	blood:
8	chr7:150705619..150708029-chr7:150714028..150715967,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDK5-2	chr7:150709302-150709484	ENSG00000181652.11
2	lnc-CDK5-2	chr7:150709548-150709612	ENSG00000181652.11
3	lnc-CDK5-2	chr7:150709297-150709538	NONHSAT124161

No data

Variant related genes	Relation type
NOS3	TF binding region
NOS3	CpG island
ENSG00000181652	chromatin interactions
ENSG00000197150	chromatin interactions
ENSG00000164867	chromatin interactions

Extended variants
information (count: 220 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:220 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3918230	chr7:150705413-150705414	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs369935793	chr7:150705425-150705426	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs3918195	chr7:150705444-150705445	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs189069620	chr7:150705500-150705501	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs558182681	chr7:150705535-150705536	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs554255447	chr7:150705536-150705537	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs537527217	chr7:150705546-150705547	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs557194282	chr7:150705595-150705596	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs1008140	chr7:150705610-150705611	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs146829069	chr7:150705618-150705619	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs552799938	chr7:150705634-150705635	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs541417696	chr7:150705726-150705727	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs544941342	chr7:150705733-150705734	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs564522740	chr7:150705743-150705744	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs530457030	chr7:150705768-150705769	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs544261233	chr7:150705790-150705791	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs150147456	chr7:150705823-150705824	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs529440896	chr7:150705836-150705837	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs549606847	chr7:150705837-150705838	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs3918196	chr7:150705842-150705843	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs181697105	chr7:150705864-150705865	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs370552047	chr7:150705895-150705896	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs552127885	chr7:150705909-150705910	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs3918231	chr7:150705926-150705927	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs537074829	chr7:150705939-150705940	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs557380561	chr7:150705943-150705944	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs567664983	chr7:150705963-150705964	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs145555620	chr7:150705968-150705969	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs200471878	chr7:150705982-150705983	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs3918197	chr7:150705985-150705986	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs373037313	chr7:150705995-150705996	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs148909379	chr7:150706014-150706015	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs146610736	chr7:150706032-150706033	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs369675314	chr7:150706060-150706061	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs200106471	chr7:150706075-150706076	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs374396706	chr7:150706088-150706089	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs544887797	chr7:150706112-150706113	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs11552661	chr7:150706114-150706115	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs141288865	chr7:150706118-150706119	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs187132464	chr7:150706135-150706136	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs3730006	chr7:150706177-150706178	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs143037297	chr7:150706190-150706191	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs370128708	chr7:150706223-150706224	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs369016944	chr7:150706226-150706227	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs117950441	chr7:150706236-150706237	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs374936984	chr7:150706237-150706238	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs540373794	chr7:150706241-150706242	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs6969597	chr7:150706246-150706247	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs201375634	chr7:150706250-150706251	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs370699534	chr7:150706277-150706278	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:438 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150694600-150705600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:150699800-150706600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:150701000-150706800	Weak transcription	A549	lung
4	chr7:150703400-150705600	Weak transcription	Esophagus	oesophagus
5	chr7:150703600-150705600	Genic enhancers	Placenta	Placenta
6	chr7:150703600-150708200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr7:150704000-150706000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:150704000-150706000	Enhancers	Left Ventricle	heart
9	chr7:150704000-150706600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:150704200-150705600	Enhancers	Right Ventricle	heart
11	chr7:150704200-150706000	Enhancers	Spleen	Spleen
12	chr7:150704200-150706400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:150704200-150707200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:150704400-150705600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:150704400-150706200	Enhancers	Lung	lung
16	chr7:150704400-150707200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:150704600-150705600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr7:150704600-150705600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:150704600-150705600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr7:150704600-150705600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
21	chr7:150704600-150706000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:150704600-150707000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:150704800-150705600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr7:150704800-150705600	Bivalent Enhancer	Fetal Stomach	stomach
25	chr7:150704800-150705800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr7:150704800-150705800	Flanking Active TSS	K562	blood
27	chr7:150704800-150706000	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr7:150704800-150706000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr7:150704800-150706000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr7:150704800-150706200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr7:150704800-150706400	Enhancers	Primary B cells from cord blood	blood
32	chr7:150704800-150708000	Enhancers	Primary hematopoietic stem cells	blood
33	chr7:150705000-150705800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr7:150705000-150706000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr7:150705000-150706200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chr7:150705000-150706200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr7:150705000-150706200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr7:150705000-150706400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr7:150705000-150706800	Flanking Active TSS	Dnd41	blood
40	chr7:150705000-150711000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr7:150705200-150705600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
42	chr7:150705200-150705600	Enhancers	Fetal Intestine Small	intestine
43	chr7:150705200-150705800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
44	chr7:150705200-150705800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr7:150705200-150706000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr7:150705200-150706200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr7:150705200-150706200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr7:150705200-150706800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:150705200-150708400	Enhancers	Fetal Heart	heart
50	chr7:150705400-150705600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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