Variant report

Variant	nsv888770
Chromosome Location	chr7:99021344-99041748
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:696)
CpG islands
(count:1162)
Chromatin interactive
region (count:71)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:696 , 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	chr7:99036323-99036603	K562	blood:	n/a	n/a
2	ARID3A	chr7:99036361-99036588	HepG2	liver:	n/a	n/a
3	ATF2	chr7:99036179-99036693	GM12878	blood:	n/a	n/a
4	ATF3	chr7:99036221-99036615	K562	blood:	n/a	chr7:99036543-99036552
5	ATF3	chr7:99036201-99036592	A549	lung:	n/a	chr7:99036543-99036552
6	BACH1	chr7:99036209-99036442	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr7:99036114-99036540	GM12878	blood:	n/a	n/a
8	BCLAF1	chr7:99036199-99036632	GM12878	blood:	n/a	n/a
9	BCLAF1	chr7:99036145-99036711	GM12878	blood:	n/a	n/a
10	BHLHE40	chr7:99036233-99036727	GM12878	blood:	n/a	chr7:99036625-99036641
11	BHLHE40	chr7:99036254-99036651	HepG2	liver:	n/a	chr7:99036625-99036641
12	BHLHE40	chr7:99035407-99035607	K562	blood:	n/a	n/a
13	BHLHE40	chr7:99036188-99037115	K562	blood:	n/a	chr7:99036625-99036641
14	BHLHE40	chr7:99036275-99036575	HepG2	liver:	n/a	n/a
15	BRCA1	chr7:99036088-99036617	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr7:99036472-99036534	HepG2	liver:	n/a	n/a
17	CBX3	chr7:99036185-99036603	K562	blood:	n/a	n/a
18	CBX3	chr7:99036135-99036623	K562	blood:	n/a	n/a
19	CCNT2	chr7:99036219-99036939	K562	blood:	n/a	n/a
20	CEBPB	chr7:99037850-99038231	HepG2	liver:	n/a	chr7:99038027-99038038
21	CEBPB	chr7:99037902-99038195	Hela-S3	cervix:	n/a	chr7:99038027-99038038
22	CEBPB	chr7:99037844-99038218	K562	blood:	n/a	chr7:99038027-99038038
23	CEBPB	chr7:99037792-99038280	MCF-7	breast:	n/a	chr7:99038027-99038038
24	CEBPB	chr7:99037847-99038223	HepG2	liver:	n/a	chr7:99038027-99038038
25	CEBPB	chr7:99037830-99038186	K562	blood:	n/a	chr7:99038027-99038038
26	CEBPB	chr7:99037853-99038245	IMR90	lung:	n/a	chr7:99038027-99038038
27	CEBPB	chr7:99037822-99038190	A549	lung:	n/a	chr7:99038027-99038038
28	CEBPB	chr7:99037886-99038136	HepG2	liver:	n/a	chr7:99038027-99038038
29	CEBPB	chr7:99037841-99038231	A549	lung:	n/a	chr7:99038027-99038038
30	CEBPB	chr7:99037849-99038208	A549	lung:	n/a	chr7:99038027-99038038
31	CEBPB	chr7:99037877-99038213	H1-hESC	embryonic stem cell:	n/a	chr7:99038027-99038038
32	CEBPB	chr7:99036333-99036661	Hela-S3	cervix:	n/a	n/a
33	CEBPD	chr7:99036345-99036756	HepG2	liver:	n/a	n/a
34	CEBPD	chr7:99036218-99036755	HepG2	liver:	n/a	n/a
35	CHD1	chr7:99036217-99036761	GM12878	blood:	n/a	n/a
36	CHD2	chr7:99036257-99036442	K562	blood:	n/a	n/a
37	CHD2	chr7:99036363-99036517	HepG2	liver:	n/a	n/a
38	CHD2	chr7:99036305-99036927	GM12878	blood:	n/a	n/a
39	CHD2	chr7:99036307-99036623	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr7:99036128-99036934	Hela-S3	cervix:	n/a	n/a
41	CREB1	chr7:99036198-99036690	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr7:99036099-99036767	H1-hESC	embryonic stem cell:	n/a	n/a
43	CREB1	chr7:99036011-99037118	GM12878	blood:	n/a	n/a
44	CREB1	chr7:99036095-99036855	A549	lung:	n/a	n/a
45	CREB1	chr7:99036306-99036632	A549	lung:	n/a	n/a
46	CREB1	chr7:99036086-99037211	HepG2	liver:	n/a	n/a
47	CREB1	chr7:99036131-99036940	K562	blood:	n/a	n/a
48	CTCF	chr7:99036620-99036770	BJ	skin:	n/a	n/a
49	CTCF	chr7:99040369-99040429	GM20000	blood:	n/a	n/a
50	CTCF	chr7:99036720-99036870	SK-N-SH_RA	brain:	n/a	n/a

(count:1162 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:99034370-99034420	NHBE	bronchial:	n/a
2	chr7:99037189-99037239	Hepatocyte	liver:	n/a
3	chr7:99032528-99032578	HRPEpiC	eye:	n/a
4	chr7:99034370-99034420	NHBE	bronchial:	n/a
5	chr7:99037189-99037239	Hepatocyte	liver:	n/a
6	chr7:99032528-99032578	HRPEpiC	eye:	n/a
7	chr7:99036699-99036749	AG09319	gingival:	n/a
8	chr7:99036841-99036891	HRCEpiC	kidney:	n/a
9	chr7:99036546-99036596	GM06990	blood:	n/a
10	chr7:99036756-99036806	AG04449	skin:	fetal
11	chr7:99036756-99036806	HEK293	kidney:	embryo
12	chr7:99035225-99035275	GM19239	blood:	n/a
13	chr7:99036328-99036378	HRPEpiC	eye:	n/a
14	chr7:99036546-99036596	AG04449	skin:	fetal
15	chr7:99036328-99036378	CMK	blood:	n/a
16	chr7:99036546-99036596	H1-hESC	embryonic stem cell:	embryo
17	chr7:99037189-99037239	PFSK-1	brain:	n/a
18	chr7:99032528-99032578	SK-N-MC	brain:	n/a
19	chr7:99036841-99036891	HEK293	kidney:	embryo
20	chr7:99036756-99036806	SK-N-SH_RA	brain:	n/a
21	chr7:99036496-99036546	SK-N-SH_RA	brain:	n/a
22	chr7:99032677-99032727	HRE	kidney:	n/a
23	chr7:99036328-99036378	HL-60	blood:	n/a
24	chr7:99036496-99036546	U87	brain:	n/a
25	chr7:99034370-99034420	MCF-7	breast:	n/a
26	chr7:99036699-99036749	PANC-1	pancreas:	n/a
27	chr7:99036512-99036562	HIPEpiC	eye:	n/a
28	chr7:99036496-99036546	HL-60	blood:	n/a
29	chr7:99037189-99037239	AG09309	skin:	n/a
30	chr7:99036343-99036393	NH-A	brain:	n/a
31	chr7:99036534-99036584	IMR90	lung:	fetal
32	chr7:99036534-99036584	Hepatocyte	liver:	n/a
33	chr7:99036501-99036551	NT2-D1	testis:	n/a
34	chr7:99032677-99032727	NHDF-neo	bronchial:	n/a
35	chr7:99032619-99032669	IMR90	lung:	fetal
36	chr7:99040005-99040055	HL-60	blood:	n/a
37	chr7:99036756-99036806	GM12878	blood:	n/a
38	chr7:99036512-99036562	H1-hESC	embryonic stem cell:	embryo
39	chr7:99036504-99036554	U87	brain:	n/a
40	chr7:99037189-99037239	SK-N-MC	brain:	n/a
41	chr7:99036841-99036891	HNPCEpiC	eye:	n/a
42	chr7:99035225-99035275	HIPEpiC	eye:	n/a
43	chr7:99036512-99036562	HRCEpiC	kidney:	n/a
44	chr7:99036534-99036584	HAEpiC	amniotic membrane:	n/a
45	chr7:99036496-99036546	HNPCEpiC	eye:	n/a
46	chr7:99035225-99035275	AG04449	skin:	fetal
47	chr7:99036512-99036562	PrEC	prostate:	n/a
48	chr7:99036546-99036596	GM12892	blood:	n/a
49	chr7:99032619-99032669	PANC-1	pancreas:	n/a
50	chr7:99036343-99036393	GM12878	blood:	n/a

(count:71 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:99010009..99013201-chr7:99032916..99037248,5	MCF-7	breast:
2	chr7:99020436..99022117-chr7:99066958..99069565,2	MCF-7	breast:
3	chr7:99019797..99022684-chr7:99036471..99038097,2	MCF-7	breast:
4	chr7:99024108..99026469-chr7:99034518..99036829,2	MCF-7	breast:
5	chr6:134495044..134495795-chr7:99036121..99037024,2	Hela-S3	cervix:
6	chr7:98739484..98741856-chr7:99035435..99038061,2	K562	blood:
7	chr7:99020429..99023882-chr7:99024975..99028179,3	K562	blood:
8	chr7:99015297..99018039-chr7:99026570..99029303,2	K562	blood:
9	chr11:62608557..62609372-chr7:99036141..99036767,2	Hela-S3	cervix:
10	chr7:99005571..99007892-chr7:99025987..99028381,2	MCF-7	breast:
11	chr7:99019766..99021951-chr7:99025804..99027414,2	MCF-7	breast:
12	chr7:99028798..99032281-chr7:99034267..99038059,8	MCF-7	breast:
13	chr7:99036970..99039265-chr7:99039739..99041583,2	MCF-7	breast:
14	chr7:99003930..99008101-chr7:99034839..99037079,5	K562	blood:
15	chr7:99025099..99027768-chr7:99034111..99036844,3	MCF-7	breast:
16	chr7:75544201..75544974-chr7:99036458..99037062,2	NB4	blood:
17	chr7:99007985..99010894-chr7:99027343..99030538,3	MCF-7	breast:
18	chr7:99019607..99022417-chr7:99035708..99037409,2	K562	blood:
19	chr7:98970391..98972681-chr7:99033800..99036309,2	K562	blood:
20	chr7:99034720..99038160-chr7:99048984..99054018,5	MCF-7	breast:
21	chr7:99032776..99034323-chr7:99036979..99038480,2	MCF-7	breast:
22	chr7:99026500..99029422-chr7:99032400..99035110,2	K562	blood:
23	chr7:99004763..99008262-chr7:99018470..99023968,5	MCF-7	breast:
24	chr7:99004073..99007178-chr7:99034881..99037749,7	MCF-7	breast:
25	chr7:99035431..99038374-chr7:99696976..99699327,2	K562	blood:
26	chr7:99038361..99041126-chr7:99102588..99104976,2	K562	blood:
27	chr7:99035477..99037165-chr7:100025272..100027414,2	K562	blood:
28	chr7:99036051..99038082-chr7:99079952..99081854,3	K562	blood:
29	chr7:99004290..99006114-chr7:99025633..99027496,2	K562	blood:
30	chr4:6717498..6717998-chr7:99036106..99036609,2	Hela-S3	cervix:
31	chr7:99034954..99037975-chr7:99677842..99679932,3	K562	blood:
32	chr7:99029730..99032537-chr7:99050314..99053165,2	MCF-7	breast:
33	chr7:99021043..99022973-chr7:99041406..99043087,2	MCF-7	breast:
34	chr7:99027922..99030424-chr7:99032965..99035110,3	K562	blood:
35	chr7:99035887..99038153-chr7:99062281..99064908,3	MCF-7	breast:
36	chr7:99030944..99035080-chr7:99035226..99039444,6	MCF-7	breast:
37	chr7:99034517..99037333-chr7:99070217..99072293,2	K562	blood:
38	chr7:99027922..99030424-chr7:99032965..99035110,3	K562	blood:
39	chr7:99035327..99038027-chr7:99096331..99099819,5	MCF-7	breast:
40	chr7:99008645..99011330-chr7:99036359..99039743,4	K562	blood:
41	chr7:99035601..99038053-chr7:99042124..99044102,2	MCF-7	breast:
42	chr7:99001484..99003635-chr7:99032738..99035703,2	K562	blood:
43	chr2:239228602..239229208-chr7:99036122..99036622,2	HCT-116	colon:
44	chr7:99007762..99009828-chr7:99020808..99022808,2	MCF-7	breast:
45	chr7:99034906..99037926-chr7:99095119..99098935,4	K562	blood:
46	chr7:98970707..98973711-chr7:99034539..99037806,4	MCF-7	breast:
47	chr7:98971332..98973489-chr7:99034701..99036393,2	MCF-7	breast:
48	chr7:99035600..99037470-chr7:99101229..99103802,2	K562	blood:
49	chr7:99020471..99023882-chr7:99024975..99028185,3	K562	blood:
50	chr7:99005761..99007888-chr7:99034840..99036856,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000228335	TF binding region
PTCD1	TF binding region
ENSG00000214314	TF binding region
CPSF4	TF binding region
ENSG00000228335	CpG island
PTCD1	CpG island
ENSG00000214314	CpG island
CPSF4	CpG island
ENSG00000133316	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000248919	chromatin interactions
ENSG00000196652	chromatin interactions
ENSG00000265020	chromatin interactions
ENSG00000214314	chromatin interactions
ENSG00000160917	chromatin interactions
ENSG00000239133	chromatin interactions
ENSG00000186222	chromatin interactions
ENSG00000127948	chromatin interactions
ENSG00000166508	chromatin interactions
ENSG00000130429	chromatin interactions
ENSG00000204104	chromatin interactions
ENSG00000160908	chromatin interactions
ENSG00000106246	chromatin interactions
ENSG00000164548	chromatin interactions
ENSG00000221838	chromatin interactions
ENSG00000118515	chromatin interactions
ENSG00000198742	chromatin interactions
ENSG00000166526	chromatin interactions
ENSG00000228335	chromatin interactions
ENSG00000106244	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000106245	chromatin interactions
ENSG00000241468	chromatin interactions
ENSG00000198556	chromatin interactions

Extended variants
information (count: 930 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:930 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13235845	chr7:99021344-99021345	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs538232519	chr7:99021346-99021347	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs376344427	chr7:99021347-99021348	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs371090415	chr7:99021357-99021358	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs202151363	chr7:99021385-99021386	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs528671688	chr7:99021398-99021399	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs11555144	chr7:99021439-99021440	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs547177113	chr7:99021442-99021443	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs147029104	chr7:99021454-99021455	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs148121169	chr7:99021455-99021456	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs35633728	chr7:99021459-99021460	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs141887500	chr7:99021461-99021462	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs374595581	chr7:99021462-99021463	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs536327609	chr7:99021503-99021504	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs116659892	chr7:99021504-99021505	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs368305794	chr7:99021527-99021528	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs569535784	chr7:99021530-99021531	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs537380062	chr7:99021531-99021532	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs372124743	chr7:99021548-99021549	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs182497211	chr7:99021581-99021582	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs200891446	chr7:99021598-99021599	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs199912750	chr7:99021599-99021600	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs371681130	chr7:99021611-99021612	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs117295696	chr7:99021623-99021624	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs541883752	chr7:99021658-99021659	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs557357664	chr7:99021668-99021669	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs114213787	chr7:99021694-99021695	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs146399226	chr7:99021762-99021763	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs564635633	chr7:99021768-99021769	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs112695768	chr7:99021778-99021779	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs138453346	chr7:99021789-99021790	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs540336459	chr7:99021810-99021811	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs561598281	chr7:99021811-99021812	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs562232249	chr7:99021812-99021813	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs113680040	chr7:99021875-99021876	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs141154726	chr7:99021946-99021947	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs114445721	chr7:99021982-99021983	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs186684097	chr7:99021985-99021986	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs552109137	chr7:99021991-99021992	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs150716126	chr7:99021999-99022000	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs534577303	chr7:99022017-99022018	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs373429608	chr7:99022045-99022046	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs552762777	chr7:99022047-99022048	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs567896584	chr7:99022059-99022060	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs535579622	chr7:99022145-99022146	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs557169969	chr7:99022190-99022191	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs139118271	chr7:99022215-99022216	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs115020394	chr7:99022226-99022227	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs558106686	chr7:99022249-99022250	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs191497237	chr7:99022273-99022274	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	18632612	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:1429 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99007200-99035400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:99007800-99024000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:99008000-99023400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr7:99008000-99023600	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:99008000-99023800	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr7:99008000-99023800	Strong transcription	Placenta	Placenta
7	chr7:99008000-99024000	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:99008000-99024000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:99008000-99024000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:99008000-99024000	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:99008000-99024000	Strong transcription	Spleen	Spleen
12	chr7:99008000-99024200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr7:99008000-99024200	Strong transcription	Fetal Stomach	stomach
14	chr7:99008000-99026600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:99008200-99023400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:99008200-99023600	Strong transcription	Fetal Intestine Large	intestine
17	chr7:99008200-99023800	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:99008200-99023800	Strong transcription	Fetal Brain Female	brain
19	chr7:99008200-99023800	Strong transcription	Fetal Muscle Trunk	muscle
20	chr7:99008200-99023800	Strong transcription	Fetal Muscle Leg	muscle
21	chr7:99008200-99024000	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:99008200-99024000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:99008200-99024000	Strong transcription	Lung	lung
24	chr7:99008200-99024200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:99008400-99023200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:99008400-99023400	Strong transcription	Fetal Thymus	thymus
27	chr7:99008400-99023600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:99008400-99023600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:99008400-99023600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:99008400-99023600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:99008400-99023800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:99008400-99023800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:99008400-99024000	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr7:99008600-99023000	Strong transcription	Osteobl	bone
35	chr7:99008600-99023200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:99008600-99023200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr7:99008600-99023200	Strong transcription	NHEK	skin
38	chr7:99008600-99023600	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr7:99008600-99023600	Strong transcription	Primary T cells from cord blood	blood
40	chr7:99008600-99023600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr7:99008600-99023800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:99008600-99023800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr7:99008600-99024000	Strong transcription	Adipose Nuclei	Adipose
44	chr7:99008600-99024200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:99008800-99023000	Strong transcription	Brain Anterior Caudate	brain
46	chr7:99008800-99023400	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr7:99008800-99023600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr7:99009400-99023600	Strong transcription	Dnd41	blood
49	chr7:99009600-99023400	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr7:99010000-99024200	Strong transcription	Ovary	ovary

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