Variant report

Variant	nsv888768
Chromosome Location	chr7:99017832-99052428
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1084)
CpG islands
(count:1405)
Chromatin interactive
region (count:93)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1084 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:99036361-99036588	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:99036323-99036603	K562	blood:	n/a	n/a
3	ATF2	chr7:99036179-99036693	GM12878	blood:	n/a	n/a
4	ATF3	chr7:99036201-99036592	A549	lung:	n/a	chr7:99036543-99036552
5	ATF3	chr7:99036221-99036615	K562	blood:	n/a	chr7:99036543-99036552
6	BACH1	chr7:99036209-99036442	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr7:99020009-99020158	K562	blood:	n/a	n/a
8	BCL3	chr7:99036114-99036540	GM12878	blood:	n/a	n/a
9	BCLAF1	chr7:99036145-99036711	GM12878	blood:	n/a	n/a
10	BCLAF1	chr7:99036199-99036632	GM12878	blood:	n/a	n/a
11	BHLHE40	chr7:99036188-99037115	K562	blood:	n/a	chr7:99036625-99036641
12	BHLHE40	chr7:99036275-99036575	HepG2	liver:	n/a	n/a
13	BHLHE40	chr7:99035407-99035607	K562	blood:	n/a	n/a
14	BHLHE40	chr7:99019871-99020039	K562	blood:	n/a	n/a
15	BHLHE40	chr7:99036254-99036651	HepG2	liver:	n/a	chr7:99036625-99036641
16	BHLHE40	chr7:99036233-99036727	GM12878	blood:	n/a	chr7:99036625-99036641
17	BRCA1	chr7:99048419-99048425	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr7:99036088-99036617	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr7:99036472-99036534	HepG2	liver:	n/a	n/a
20	CBX3	chr7:99036185-99036603	K562	blood:	n/a	n/a
21	CBX3	chr7:99036135-99036623	K562	blood:	n/a	n/a
22	CCNT2	chr7:99036219-99036939	K562	blood:	n/a	n/a
23	CEBPB	chr7:99046930-99047009	IMR90	lung:	n/a	chr7:99046964-99046975 chr7:99046966-99046975 chr7:99046966-99046975 chr7:99046966-99046975 chr7:99046966-99046975 chr7:99046964-99046977 chr7:99046965-99046976
24	CEBPB	chr7:99037850-99038231	HepG2	liver:	n/a	chr7:99038027-99038038
25	CEBPB	chr7:99037830-99038186	K562	blood:	n/a	chr7:99038027-99038038
26	CEBPB	chr7:99046823-99047072	HepG2	liver:	n/a	chr7:99046964-99046975 chr7:99046966-99046975 chr7:99046966-99046975 chr7:99046966-99046975 chr7:99046966-99046975 chr7:99046964-99046977 chr7:99046965-99046976
27	CEBPB	chr7:99037847-99038223	HepG2	liver:	n/a	chr7:99038027-99038038
28	CEBPB	chr7:99037841-99038231	A549	lung:	n/a	chr7:99038027-99038038
29	CEBPB	chr7:99045636-99045906	HepG2	liver:	n/a	n/a
30	CEBPB	chr7:99037822-99038190	A549	lung:	n/a	chr7:99038027-99038038
31	CEBPB	chr7:99051552-99051598	K562	blood:	n/a	n/a
32	CEBPB	chr7:99037792-99038280	MCF-7	breast:	n/a	chr7:99038027-99038038
33	CEBPB	chr7:99045682-99045822	K562	blood:	n/a	n/a
34	CEBPB	chr7:99037844-99038218	K562	blood:	n/a	chr7:99038027-99038038
35	CEBPB	chr7:99037849-99038208	A549	lung:	n/a	chr7:99038027-99038038
36	CEBPB	chr7:99037853-99038245	IMR90	lung:	n/a	chr7:99038027-99038038
37	CEBPB	chr7:99045585-99045926	A549	lung:	n/a	n/a
38	CEBPB	chr7:99037886-99038136	HepG2	liver:	n/a	chr7:99038027-99038038
39	CEBPB	chr7:99037877-99038213	H1-hESC	embryonic stem cell:	n/a	chr7:99038027-99038038
40	CEBPB	chr7:99036333-99036661	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr7:99037902-99038195	Hela-S3	cervix:	n/a	chr7:99038027-99038038
42	CEBPD	chr7:99036218-99036755	HepG2	liver:	n/a	n/a
43	CEBPD	chr7:99036345-99036756	HepG2	liver:	n/a	n/a
44	CHD1	chr7:99036217-99036761	GM12878	blood:	n/a	n/a
45	CHD2	chr7:99036363-99036517	HepG2	liver:	n/a	n/a
46	CHD2	chr7:99036257-99036442	K562	blood:	n/a	n/a
47	CHD2	chr7:99036128-99036934	Hela-S3	cervix:	n/a	n/a
48	CHD2	chr7:99036307-99036623	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD2	chr7:99036305-99036927	GM12878	blood:	n/a	n/a
50	CREB1	chr7:99036306-99036632	A549	lung:	n/a	n/a

(count:1405 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:99036343-99036393	AoSMC	blood vessel:	n/a
2	chr7:99036702-99036752	Jurkat	blood:	n/a
3	chr7:99036343-99036393	AoSMC	blood vessel:	n/a
4	chr7:99036702-99036752	Jurkat	blood:	n/a
5	chr7:99036841-99036891	LNCaP	prostate:	n/a
6	chr7:99036546-99036596	ProgFib	skin:	n/a
7	chr7:99036496-99036546	ECC-1	luminal epithelium:	n/a
8	chr7:99036534-99036584	Hela-S3	cervix:	n/a
9	chr7:99037189-99037239	HIPEpiC	eye:	n/a
10	chr7:99019985-99020035	BJ	skin:	n/a
11	chr7:99034370-99034420	Jurkat	blood:	n/a
12	chr7:99051547-99051597	LNCaP	prostate:	n/a
13	chr7:99051547-99051597	AoSMC	blood vessel:	n/a
14	chr7:99036343-99036393	SK-N-SH_RA	brain:	n/a
15	chr7:99032619-99032669	RPTEC	kidney:	n/a
16	chr7:99036501-99036551	GM12878	blood:	n/a
17	chr7:99036841-99036891	SAEC	small airway:	n/a
18	chr7:99019985-99020035	GM12891	blood:	n/a
19	chr7:99032677-99032727	PFSK-1	brain:	n/a
20	chr7:99036343-99036393	Hela-S3	cervix:	n/a
21	chr7:99019985-99020035	SK-N-SH	brain:	n/a
22	chr7:99036841-99036891	HepG2	liver:	n/a
23	chr7:99051500-99051550	AoSMC	blood vessel:	n/a
24	chr7:99036501-99036551	NHBE	bronchial:	n/a
25	chr7:99051547-99051597	GM12878	blood:	n/a
26	chr7:99051500-99051550	HNPCEpiC	eye:	n/a
27	chr7:99037189-99037239	HPAEpiC	pulmonary alveolar:	n/a
28	chr7:99036496-99036546	GM12892	blood:	n/a
29	chr7:99035225-99035275	HIPEpiC	eye:	n/a
30	chr7:99036534-99036584	GM12878	blood:	n/a
31	chr7:99051500-99051550	HMEC	breast:	n/a
32	chr7:99051465-99051515	SKMC	muscle:	n/a
33	chr7:99036841-99036891	HL-60	blood:	n/a
34	chr7:99036504-99036554	Hela-S3	cervix:	n/a
35	chr7:99036702-99036752	HL-60	blood:	n/a
36	chr7:99035225-99035275	A549	lung:	n/a
37	chr7:99032528-99032578	GM12892	blood:	n/a
38	chr7:99036756-99036806	NH-A	brain:	n/a
39	chr7:99035225-99035275	SK-N-SH_RA	brain:	n/a
40	chr7:99019985-99020035	ProgFib	skin:	n/a
41	chr7:99040005-99040055	AG09309	skin:	n/a
42	chr7:99032677-99032727	RPTEC	kidney:	n/a
43	chr7:99040005-99040055	AG04450	lung:	fetal
44	chr7:99037189-99037239	GM19239	blood:	n/a
45	chr7:99036496-99036546	GM12878	blood:	n/a
46	chr7:99032619-99032669	SK-N-SH	brain:	n/a
47	chr7:99051547-99051597	NHBE	bronchial:	n/a
48	chr7:99036496-99036546	HepG2	liver:	n/a
49	chr7:99032677-99032727	HPAEpiC	pulmonary alveolar:	n/a
50	chr7:99037189-99037239	HRPEpiC	eye:	n/a

(count:93 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:99035431..99038374-chr7:99696976..99699327,2	K562	blood:
2	chr7:98971628..98974461-chr7:99019124..99020982,2	MCF-7	breast:
3	chr7:99021211..99022744-chr7:99025529..99028020,2	MCF-7	breast:
4	chr7:99035600..99037470-chr7:99101229..99103802,2	K562	blood:
5	chr7:99008645..99011330-chr7:99036359..99039743,4	K562	blood:
6	chr7:99005077..99006635-chr7:99051986..99054907,2	K562	blood:
7	chr7:99034954..99037866-chr7:99677567..99679393,3	K562	blood:
8	chr7:99036051..99038082-chr7:99079952..99081854,3	K562	blood:
9	chr7:99011962..99013888-chr7:99021432..99023405,2	MCF-7	breast:
10	chr7:99019766..99021951-chr7:99025804..99027414,2	MCF-7	breast:
11	chr7:99005761..99007888-chr7:99034840..99036856,3	K562	blood:
12	chr7:99026847..99029073-chr7:99029475..99031383,3	K562	blood:
13	chr7:99004207..99009187-chr7:99032699..99039268,13	MCF-7	breast:
14	chr7:99036970..99039265-chr7:99039739..99041583,2	MCF-7	breast:
15	chr7:99019607..99022417-chr7:99035708..99037409,2	K562	blood:
16	chr7:99004073..99007178-chr7:99034881..99037749,7	MCF-7	breast:
17	chr7:99015297..99018039-chr7:99026570..99029303,2	K562	blood:
18	chr7:99032776..99034323-chr7:99036979..99038480,2	MCF-7	breast:
19	chr7:75544201..75544974-chr7:99036458..99037062,2	NB4	blood:
20	chr7:99019766..99021951-chr7:99025804..99027414,2	MCF-7	breast:
21	chr6:134495044..134495795-chr7:99036121..99037024,2	Hela-S3	cervix:
22	chr4:6717498..6717998-chr7:99036106..99036609,2	Hela-S3	cervix:
23	chr7:99020429..99023882-chr7:99024975..99028179,3	K562	blood:
24	chr7:99035477..99037165-chr7:100025272..100027414,2	K562	blood:
25	chr7:99025112..99027290-chr7:99035346..99038143,2	K562	blood:
26	chr7:99004290..99006114-chr7:99025633..99027496,2	K562	blood:
27	chr7:99034720..99038160-chr7:99048984..99054018,5	MCF-7	breast:
28	chr7:98970906..98973809-chr7:99047334..99049746,3	K562	blood:
29	chr7:99036383..99037983-chr7:99697616..99700262,2	MCF-7	breast:
30	chr7:99048592..99050764-chr7:99052793..99054929,3	MCF-7	breast:
31	chr7:99015257..99017974-chr7:99036140..99038779,2	K562	blood:
32	chr7:99034517..99037333-chr7:99070217..99072293,2	K562	blood:
33	chr7:99021043..99022973-chr7:99041406..99043087,2	MCF-7	breast:
34	chr7:99020436..99022117-chr7:99066958..99069565,2	MCF-7	breast:
35	chr7:99028798..99032281-chr7:99034267..99038059,8	MCF-7	breast:
36	chr7:99038439..99042138-chr7:99044647..99047219,3	MCF-7	breast:
37	chr7:99030944..99035080-chr7:99035226..99039444,6	MCF-7	breast:
38	chr7:99005571..99007892-chr7:99025987..99028381,2	MCF-7	breast:
39	chr7:99004763..99008262-chr7:99018470..99023968,5	MCF-7	breast:
40	chr7:99010009..99013201-chr7:99032916..99037248,5	MCF-7	breast:
41	chr7:99021211..99022744-chr7:99025529..99028020,2	MCF-7	breast:
42	chr7:99043772..99045661-chr7:99067395..99069052,2	MCF-7	breast:
43	chr7:99027922..99030424-chr7:99032965..99035110,3	K562	blood:
44	chr7:99020429..99023882-chr7:99024975..99028179,3	K562	blood:
45	chr7:99004656..99007514-chr7:99045611..99047838,3	MCF-7	breast:
46	chr7:98971332..98973489-chr7:99034701..99036393,2	MCF-7	breast:
47	chr7:99035887..99038153-chr7:99062281..99064908,3	MCF-7	breast:
48	chr7:98739484..98741856-chr7:99035435..99038061,2	K562	blood:
49	chr7:99029730..99032537-chr7:99050314..99053165,2	MCF-7	breast:
50	chr7:99024108..99026469-chr7:99034518..99036829,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC073063.1-2	chr7:99051310-99051759	NONHSAT122241
2	lnc-AC073063.1-1	chr7:99048389-99048418	NONHSAT122240
3	lnc-AC073063.1-1	chr7:99049991-99050887	NONHSAT122240

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
ENSG00000160908	chromatin interactions
ENSG00000106246	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000221909	chromatin interactions
ENSG00000228335	chromatin interactions
ENSG00000197343	chromatin interactions
ENSG00000127948	chromatin interactions
ENSG00000166526	chromatin interactions
ENSG00000272647	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000214314	chromatin interactions
ENSG00000265020	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000106245	chromatin interactions
ENSG00000118515	chromatin interactions
ENSG00000196652	chromatin interactions
ENSG00000248919	chromatin interactions
ENSG00000239133	chromatin interactions
ENSG00000198742	chromatin interactions
ENSG00000186222	chromatin interactions
ENSG00000204104	chromatin interactions
ENSG00000221838	chromatin interactions
ENSG00000164548	chromatin interactions
ENSG00000166508	chromatin interactions
ENSG00000198556	chromatin interactions
ENSG00000241468	chromatin interactions
ENSG00000106244	chromatin interactions
ENSG00000160917	chromatin interactions
ENSG00000130429	chromatin interactions

Extended variants
information (count: 1549 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1549 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4729536	chr7:99017832-99017833	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs563107377	chr7:99017833-99017834	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs533340945	chr7:99017883-99017884	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs376526300	chr7:99017893-99017894	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs116670015	chr7:99017921-99017922	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs564015484	chr7:99017923-99017924	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs186335383	chr7:99017943-99017944	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs114420526	chr7:99017968-99017969	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs530337200	chr7:99018004-99018005	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs567686792	chr7:99018006-99018007	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs529187613	chr7:99018022-99018023	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs550441797	chr7:99018032-99018033	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs569082792	chr7:99018097-99018098	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs533018576	chr7:99018215-99018216	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs547740100	chr7:99018216-99018217	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs539249337	chr7:99018222-99018223	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs557895005	chr7:99018223-99018224	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs139012765	chr7:99018227-99018228	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs534271950	chr7:99018235-99018236	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs555813897	chr7:99018246-99018247	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs76055659	chr7:99018269-99018270	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs369720552	chr7:99018302-99018303	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs575191770	chr7:99018307-99018308	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs556891851	chr7:99018308-99018309	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs190241722	chr7:99018318-99018319	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs545280297	chr7:99018319-99018320	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs182811907	chr7:99018324-99018325	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs528193950	chr7:99018345-99018346	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs148920151	chr7:99018367-99018368	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs113980826	chr7:99018377-99018378	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs148101363	chr7:99018378-99018379	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs187278641	chr7:99018426-99018427	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs545692671	chr7:99018467-99018468	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs534016658	chr7:99018471-99018472	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs538039960	chr7:99018494-99018495	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs553995495	chr7:99018531-99018532	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs556434542	chr7:99018535-99018536	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs377126684	chr7:99018548-99018549	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs533207780	chr7:99018552-99018553	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs574742099	chr7:99018573-99018574	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs551308807	chr7:99018579-99018580	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs9691511	chr7:99018584-99018585	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs535751183	chr7:99018636-99018637	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs141950481	chr7:99018669-99018670	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs549476059	chr7:99018680-99018681	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs141768682	chr7:99018696-99018697	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs567710012	chr7:99018700-99018701	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs192162960	chr7:99018702-99018703	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs556478561	chr7:99018711-99018712	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs554974850	chr7:99018738-99018739	Weak transcription Strong transcription	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:1739 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

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	chr7:99008000-99018400	Strong transcription	Gastric	stomach
4	chr7:99008000-99018400	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr7:99008000-99019800	Weak transcription	Right Atrium	heart
6	chr7:99008000-99023400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:99008000-99023600	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:99008000-99023800	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr7:99008000-99023800	Strong transcription	Placenta	Placenta
10	chr7:99008000-99024000	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:99008000-99024000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:99008000-99024000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr7:99008000-99024000	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:99008000-99024000	Strong transcription	Spleen	Spleen
15	chr7:99008000-99024200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr7:99008000-99024200	Strong transcription	Fetal Stomach	stomach
17	chr7:99008000-99026600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:99008200-99023400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:99008200-99023600	Strong transcription	Fetal Intestine Large	intestine
20	chr7:99008200-99023800	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr7:99008200-99023800	Strong transcription	Fetal Brain Female	brain
22	chr7:99008200-99023800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr7:99008200-99023800	Strong transcription	Fetal Muscle Leg	muscle
24	chr7:99008200-99024000	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:99008200-99024000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr7:99008200-99024000	Strong transcription	Lung	lung
27	chr7:99008200-99024200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:99008400-99018800	Strong transcription	Fetal Lung	lung
29	chr7:99008400-99018800	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr7:99008400-99019000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:99008400-99019000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:99008400-99019000	Strong transcription	Stomach Smooth Muscle	stomach
33	chr7:99008400-99019200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:99008400-99019400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr7:99008400-99023200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:99008400-99023400	Strong transcription	Fetal Thymus	thymus
37	chr7:99008400-99023600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:99008400-99023600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:99008400-99023600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:99008400-99023600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:99008400-99023800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:99008400-99023800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:99008400-99024000	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr7:99008600-99018200	Strong transcription	Brain Substantia Nigra	brain
45	chr7:99008600-99018400	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:99008600-99018600	Strong transcription	HMEC	breast
47	chr7:99008600-99018800	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr7:99008600-99019000	Strong transcription	Primary B cells from peripheral blood	blood
49	chr7:99008600-99023000	Strong transcription	Osteobl	bone
50	chr7:99008600-99023200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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