Variant report

Variant	esv3327134
Chromosome Location	chr7:66092942-66095490
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:573)
CpG islands
(count:672)
Chromatin interactive
region (count:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:573 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:66093993-66094057	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:66093405-66093612	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:66093240-66093706	K562	blood:	n/a	n/a
4	ATF1	chr7:66093415-66093833	K562	blood:	n/a	n/a
5	ATF2	chr7:66093325-66093729	GM12878	blood:	n/a	n/a
6	ATF3	chr7:66093276-66093793	K562	blood:	n/a	chr7:66093411-66093420 chr7:66093419-66093439
7	BACH1	chr7:66093325-66093596	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr7:66093400-66093586	GM12878	blood:	n/a	n/a
9	BCL3	chr7:66093081-66093697	A549	lung:	n/a	n/a
10	BHLHE40	chr7:66093274-66094197	GM12878	blood:	n/a	chr7:66093406-66093422 chr7:66093948-66093964 chr7:66093856-66093872 chr7:66093940-66093956 chr7:66093414-66093430 chr7:66093764-66093780 chr7:66093759-66093775
11	BHLHE40	chr7:66093179-66094178	K562	blood:	n/a	chr7:66093406-66093422 chr7:66093948-66093964 chr7:66093856-66093872 chr7:66093940-66093956 chr7:66093414-66093430 chr7:66093764-66093780 chr7:66093759-66093775
12	BRCA1	chr7:66093934-66093936	HepG2	liver:	n/a	n/a
13	BRCA1	chr7:66093146-66094099	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr7:66093255-66093705	HepG2	liver:	n/a	n/a
15	BRCA1	chr7:66093400-66093640	H1-hESC	embryonic stem cell:	n/a	n/a
16	BRCA1	chr7:66093377-66094090	GM12878	blood:	n/a	n/a
17	CBX3	chr7:66093318-66094194	K562	blood:	n/a	n/a
18	CCNT2	chr7:66093258-66094209	K562	blood:	n/a	n/a
19	CCNT2	chr7:66095484-66095777	K562	blood:	n/a	n/a
20	CEBPB	chr7:66092965-66093570	H1-hESC	embryonic stem cell:	n/a	chr7:66093078-66093089
21	CEBPB	chr7:66092885-66093255	K562	blood:	n/a	chr7:66093078-66093089
22	CEBPB	chr7:66092932-66094172	Hela-S3	cervix:	n/a	chr7:66093078-66093089
23	CEBPB	chr7:66092922-66093142	HepG2	liver:	n/a	chr7:66093078-66093089
24	CEBPB	chr7:66092935-66093611	HepG2	liver:	n/a	chr7:66093078-66093089
25	CEBPB	chr7:66092863-66093318	MCF-7	breast:	n/a	chr7:66093078-66093089
26	CEBPB	chr7:66092862-66093300	HepG2	liver:	n/a	chr7:66093078-66093089
27	CEBPB	chr7:66092944-66093601	K562	blood:	n/a	chr7:66093078-66093089
28	CEBPB	chr7:66092935-66093548	HepG2	liver:	n/a	chr7:66093078-66093089
29	CEBPB	chr7:66092899-66093575	IMR90	lung:	n/a	chr7:66093078-66093089
30	CEBPD	chr7:66093424-66093796	HepG2	liver:	n/a	n/a
31	CEBPD	chr7:66092971-66094129	HepG2	liver:	n/a	n/a
32	CEBPD	chr7:66093827-66094104	HepG2	liver:	n/a	n/a
33	CHD1	chr7:66093129-66093547	GM12878	blood:	n/a	chr7:66093456-66093466
34	CHD1	chr7:66092842-66094223	IMR90	lung:	n/a	chr7:66093456-66093466 chr7:66093873-66093883
35	CHD1	chr7:66093203-66093214	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr7:66093086-66093174	HepG2	liver:	n/a	n/a
37	CHD2	chr7:66094393-66094659	GM12878	blood:	n/a	n/a
38	CHD2	chr7:66093415-66094065	HepG2	liver:	n/a	chr7:66093456-66093466 chr7:66093873-66093883
39	CHD2	chr7:66093126-66094157	GM12878	blood:	n/a	chr7:66093456-66093466 chr7:66093873-66093883
40	CHD2	chr7:66093289-66094153	K562	blood:	n/a	chr7:66093456-66093466 chr7:66093873-66093883
41	CHD2	chr7:66094495-66094535	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr7:66093264-66094051	H1-hESC	embryonic stem cell:	n/a	chr7:66093456-66093466 chr7:66093873-66093883
43	CHD2	chr7:66093205-66094443	Hela-S3	cervix:	n/a	chr7:66093456-66093466 chr7:66093873-66093883
44	CREB1	chr7:66093095-66094233	H1-hESC	embryonic stem cell:	n/a	n/a
45	CREB1	chr7:66092792-66094277	HepG2	liver:	n/a	n/a
46	CREB1	chr7:66093120-66094188	K562	blood:	n/a	n/a
47	CREB1	chr7:66093196-66094302	H1-hESC	embryonic stem cell:	n/a	n/a
48	CREB1	chr7:66093034-66094337	K562	blood:	n/a	n/a
49	CREB1	chr7:66093150-66094232	A549	lung:	n/a	n/a
50	CREB1	chr7:66093242-66094261	GM12878	blood:	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	chr7:66093674-66093724	HEEpiC	esophagus:	n/a
2	chr7:66093674-66093724	HEEpiC	esophagus:	n/a
3	chr7:66093674-66093724	HCF	heart:	n/a
4	chr7:66093826-66093876	HCM	heart:	n/a
5	chr7:66093674-66093724	SKMC	muscle:	n/a
6	chr7:66093886-66093936	HRE	kidney:	n/a
7	chr7:66093715-66093765	SK-N-SH_RA	brain:	n/a
8	chr7:66093886-66093936	RPTEC	kidney:	n/a
9	chr7:66093674-66093724	ECC-1	luminal epithelium:	n/a
10	chr7:66093369-66093419	SKMC	muscle:	n/a
11	chr7:66093369-66093419	A549	lung:	n/a
12	chr7:66093774-66093824	HCF	heart:	n/a
13	chr7:66094096-66094146	HepG2	liver:	n/a
14	chr7:66093774-66093824	PANC-1	pancreas:	n/a
15	chr7:66093274-66093324	HEEpiC	esophagus:	n/a
16	chr7:66093764-66093814	U87	brain:	n/a
17	chr7:66093774-66093824	HCT-116	colon:	n/a
18	chr7:66093889-66093939	SKMC	muscle:	n/a
19	chr7:66093274-66093324	PFSK-1	brain:	n/a
20	chr7:66093826-66093876	NHBE	bronchial:	n/a
21	chr7:66093369-66093419	LNCaP	prostate:	n/a
22	chr7:66093774-66093824	GM12892	blood:	n/a
23	chr7:66093674-66093724	GM06990	blood:	n/a
24	chr7:66093349-66093399	HRE	kidney:	n/a
25	chr7:66093764-66093814	BJ	skin:	n/a
26	chr7:66093889-66093939	Jurkat	blood:	n/a
27	chr7:66093715-66093765	HIPEpiC	eye:	n/a
28	chr7:66093889-66093939	AG09309	skin:	n/a
29	chr7:66093886-66093936	T-47D	breast:	n/a
30	chr7:66094096-66094146	AG04450	lung:	fetal
31	chr7:66093674-66093724	CMK	blood:	n/a
32	chr7:66093886-66093936	AG04449	skin:	fetal
33	chr7:66093889-66093939	AG04449	skin:	fetal
34	chr7:66093274-66093324	HCPEpiC	choroid plexus:	n/a
35	chr7:66093369-66093419	SK-N-SH_RA	brain:	n/a
36	chr7:66093369-66093419	AG10803	skin:	n/a
37	chr7:66093764-66093814	RPTEC	kidney:	n/a
38	chr7:66093674-66093724	MCF-7	breast:	n/a
39	chr7:66093369-66093419	HEK293	kidney:	embryo
40	chr7:66093774-66093824	SK-N-SH	brain:	n/a
41	chr7:66093889-66093939	HIPEpiC	eye:	n/a
42	chr7:66093349-66093399	HRPEpiC	eye:	n/a
43	chr7:66093826-66093876	Hela-S3	cervix:	n/a
44	chr7:66093369-66093419	NT2-D1	testis:	n/a
45	chr7:66093889-66093939	HAEpiC	amniotic membrane:	n/a
46	chr7:66093369-66093419	PFSK-1	brain:	n/a
47	chr7:66093674-66093724	BE2_C	brain:	n/a
48	chr7:66093764-66093814	GM19239	blood:	n/a
49	chr7:66093274-66093324	ProgFib	skin:	n/a
50	chr7:66093715-66093765	Jurkat	blood:	n/a

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:98264226..98265182-chr7:66093354..66094059,2	Hela-S3	cervix:
2	chr7:66091921..66093533-chr7:66126836..66128952,2	K562	blood:
3	chr7:66091844..66094640-chr7:66118336..66122170,5	MCF-7	breast:
4	chr7:66093320..66093904-chr9:131313973..131314935,2	Hela-S3	cervix:
5	chr7:66065925..66067738-chr7:66091765..66093864,2	MCF-7	breast:
6	chr11:9596810..9597767-chr7:66093222..66093730,2	Hela-S3	cervix:
7	chr5:43066820..43067773-chr7:66093320..66094153,2	Hela-S3	cervix:
8	chr10:65225136..65225808-chr7:66093381..66094332,2	Hela-S3	cervix:
9	chr1:147735355..147736222-chr7:66093511..66094057,2	HCT-116	colon:
10	chr1:28836038..28837012-chr7:66093346..66093861,2	HCT-116	colon:
11	chr1:181057562..181058294-chr7:66093557..66094108,2	NB4	blood:
12	chr19:47616108..47616738-chr7:66092987..66093789,2	NB4	blood:
13	chr16:30366233..30367218-chr7:66093220..66094003,2	Hela-S3	cervix:
14	chr7:66092683..66094985-chr7:66385486..66387762,2	K562	blood:
15	chr1:42800634..42801468-chr7:66093139..66093799,2	NB4	blood:
16	chr7:66093225..66093866-chrX:48595454..48596366,2	Hela-S3	cervix:
17	chr1:27114382..27114969-chr7:66093178..66093696,2	Hela-S3	cervix:
18	chr7:66055516..66058509-chr7:66093670..66096346,2	MCF-7	breast:
19	chr7:66092456..66095854-chr7:66117562..66119715,4	MCF-7	breast:
20	chr1:43919012..43919811-chr7:66093163..66093904,2	Hela-S3	cervix:
21	chr18:60188960..60191290-chr7:66092438..66094861,2	MCF-7	breast:
22	chr1:235291644..235292533-chr7:66093408..66093938,2	Hela-S3	cervix:
23	chr17:2303928..2304554-chr7:66093443..66094027,2	Hela-S3	cervix:
24	chr11:17098718..17099589-chr7:66093255..66093859,2	Hela-S3	cervix:
25	chr7:66091926..66093448-chr7:66145464..66148372,2	K562	blood:
26	chr16:66583323..66584120-chr7:66093411..66094042,2	NB4	blood:
27	chr7:66055866..66057599-chr7:66093523..66095048,2	K562	blood:
28	chr7:66091898..66097382-chr7:66117985..66122507,10	K562	blood:
29	chr7:66093040..66094130-chr9:130213730..130214325,3	Hela-S3	cervix:
30	chr17:39845061..39845590-chr7:66093188..66093726,2	Hela-S3	cervix:
31	chr7:66081713..66084655-chr7:66091720..66093835,2	K562	blood:
32	chr12:51662640..51663547-chr7:66093284..66093823,2	Hela-S3	cervix:
33	chr7:66054686..66058308-chr7:66092199..66095155,8	MCF-7	breast:

No data

Variant related genes	Relation type
KCTD7	TF binding region
KCTD7	CpG island
ENSG00000173726	chromatin interactions
ENSG00000260219	chromatin interactions
ENSG00000178922	chromatin interactions
ENSG00000171988	chromatin interactions
ENSG00000070444	chromatin interactions
ENSG00000172262	chromatin interactions
ENSG00000110700	chromatin interactions
ENSG00000106609	chromatin interactions
ENSG00000166483	chromatin interactions
ENSG00000197694	chromatin interactions
ENSG00000060642	chromatin interactions
ENSG00000228395	chromatin interactions
ENSG00000232559	chromatin interactions
ENSG00000232828	chromatin interactions
ENSG00000169217	chromatin interactions
ENSG00000162783	chromatin interactions
ENSG00000177738	chromatin interactions
ENSG00000229348	chromatin interactions
ENSG00000173812	chromatin interactions
ENSG00000226824	chromatin interactions
ENSG00000180198	chromatin interactions
ENSG00000199879	chromatin interactions
ENSG00000142230	chromatin interactions
ENSG00000148356	chromatin interactions
ENSG00000198815	chromatin interactions
ENSG00000166548	chromatin interactions
ENSG00000141664	chromatin interactions
ENSG00000154710	chromatin interactions
ENSG00000170545	chromatin interactions
ENSG00000248489	chromatin interactions

Extended variants
information (count: 85 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190503255	chr7:66092966-66092967	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs371215725	chr7:66092994-66092995	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs528288250	chr7:66093011-66093012	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs143573773	chr7:66093035-66093036	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs571504884	chr7:66093062-66093063	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs568700941	chr7:66093063-66093064	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs530846736	chr7:66093069-66093070	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs150532339	chr7:66093218-66093219	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs570072161	chr7:66093237-66093238	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
10	rs115831408	chr7:66093261-66093262	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
11	rs80028027	chr7:66093317-66093318	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
12	rs369508561	chr7:66093365-66093366	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
13	rs370135928	chr7:66093421-66093422	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
14	rs555826976	chr7:66093584-66093585	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
15	rs181349888	chr7:66093592-66093593	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
16	rs535203135	chr7:66093603-66093604	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
17	rs558083309	chr7:66093608-66093609	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
18	rs117915221	chr7:66093609-66093610	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
19	rs556499175	chr7:66093611-66093612	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
20	rs573292955	chr7:66093632-66093633	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
21	rs567261045	chr7:66093647-66093648	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
22	rs559379594	chr7:66093649-66093650	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
23	rs528210462	chr7:66093654-66093655	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
24	rs372053958	chr7:66093692-66093693	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
25	rs545156204	chr7:66093769-66093770	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
26	rs186270651	chr7:66093772-66093773	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
27	rs530783681	chr7:66093774-66093775	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
28	rs139497775	chr7:66093775-66093776	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
29	rs567609628	chr7:66093824-66093825	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
30	rs529283909	chr7:66093835-66093836	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
31	rs191169882	chr7:66093882-66093883	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
32	rs566129756	chr7:66093890-66093891	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
33	rs534830374	chr7:66093925-66093926	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
34	rs551906037	chr7:66093936-66093937	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
35	rs571516346	chr7:66093938-66093939	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
36	rs537288495	chr7:66093947-66093948	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
37	rs557231998	chr7:66093956-66093957	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
38	rs574026019	chr7:66093982-66093983	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
39	rs536230559	chr7:66093983-66093984	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
40	rs537743017	chr7:66093998-66093999	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
41	rs374505432	chr7:66094003-66094004	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
42	rs35526611	chr7:66094008-66094009	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs368529427	chr7:66094020-66094021	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs371919994	chr7:66094127-66094128	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs373655601	chr7:66094164-66094165	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs544784365	chr7:66094187-66094188	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs538905437	chr7:66094356-66094357	Active TSS Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs144762900	chr7:66094360-66094361	Active TSS Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs575504075	chr7:66094375-66094376	Active TSS Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs544446477	chr7:66094382-66094383	Active TSS Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Glioblastoma	21080181	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:494 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66090600-66093000	Enhancers	NHLF	lung
2	chr7:66091400-66093000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:66091800-66093000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:66092000-66094400	Active TSS	Sigmoid Colon	Sigmoid Colon
5	chr7:66092200-66093200	Flanking Active TSS	Primary B cells from peripheral blood	blood
6	chr7:66092200-66094600	Active TSS	Brain Anterior Caudate	brain
7	chr7:66092200-66094800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:66092400-66093000	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr7:66092400-66093200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr7:66092400-66093200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:66092400-66094400	Active TSS	Primary T cells from cord blood	blood
12	chr7:66092400-66094800	Active TSS	Brain Angular Gyrus	brain
13	chr7:66092400-66094800	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr7:66092400-66094800	Active TSS	Rectal Smooth Muscle	rectum
15	chr7:66092400-66095000	Active TSS	A549	lung
16	chr7:66092400-66095200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr7:66092600-66093000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:66092600-66093000	Active TSS	NHEK	skin
19	chr7:66092600-66093200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
20	chr7:66092600-66093200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr7:66092600-66093200	Active TSS	HepG2	liver
22	chr7:66092600-66094400	Active TSS	Muscle Satellite Cultured Cells	--
23	chr7:66092600-66094600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:66092600-66094600	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr7:66092600-66094800	Active TSS	Placenta Amnion	Placenta Amnion
26	chr7:66092600-66095000	Active TSS	Colonic Mucosa	Colon
27	chr7:66092800-66093000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:66092800-66093000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr7:66092800-66093000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:66092800-66093000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:66092800-66093000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr7:66092800-66093000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:66092800-66093000	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr7:66092800-66093000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr7:66092800-66093000	Enhancers	Fetal Brain Male	brain
36	chr7:66092800-66093000	Flanking Active TSS	Fetal Intestine Large	intestine
37	chr7:66092800-66093000	Flanking Active TSS	Fetal Intestine Small	intestine
38	chr7:66092800-66093000	Enhancers	Fetal Lung	lung
39	chr7:66092800-66093000	Flanking Active TSS	Pancreas	Pancrea
40	chr7:66092800-66093000	Flanking Active TSS	Hela-S3	cervix
41	chr7:66092800-66093000	Enhancers	HMEC	breast
42	chr7:66092800-66093000	Enhancers	HUVEC	blood vessel
43	chr7:66092800-66093000	Flanking Active TSS	K562	blood
44	chr7:66092800-66093000	Flanking Active TSS	NHDF-Ad	bronchial
45	chr7:66092800-66093200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:66092800-66093200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:66092800-66093200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:66092800-66093200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr7:66092800-66093200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:66092800-66093200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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