Variant report

Variant	nsv1023019
Chromosome Location	chr4:187082701-187153933
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1536)
CpG islands
(count:1770)
Chromatin interactive
region (count:47)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:1536 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:187112910-187112928	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:187123009-187123375	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:187124713-187124813	K562	blood:	n/a	n/a
4	ARID3A	chr4:187148465-187148703	HepG2	liver:	n/a	n/a
5	ARID3A	chr4:187112517-187112766	K562	blood:	n/a	n/a
6	ATF1	chr4:187125220-187125793	K562	blood:	n/a	n/a
7	ATF2	chr4:187111626-187112084	GM12878	blood:	n/a	n/a
8	ATF2	chr4:187112340-187112962	GM12878	blood:	n/a	n/a
9	ATF2	chr4:187112363-187112834	GM12878	blood:	n/a	n/a
10	ATF3	chr4:187112294-187112519	K562	blood:	n/a	n/a
11	ATF3	chr4:187123084-187123309	K562	blood:	n/a	n/a
12	BACH1	chr4:187112705-187112885	K562	blood:	n/a	n/a
13	BACH1	chr4:187111645-187113416	H1-hESC	embryonic stem cell:	n/a	n/a
14	BCL11A	chr4:187112453-187112795	GM12878	blood:	n/a	chr4:187112583-187112596 chr4:187112636-187112645 chr4:187112569-187112582
15	BCL3	chr4:187112551-187113002	GM12878	blood:	n/a	chr4:187112925-187112938 chr4:187112961-187112974 chr4:187112583-187112596 chr4:187112636-187112645 chr4:187112569-187112582
16	BCL3	chr4:187123689-187124048	GM12878	blood:	n/a	n/a
17	BCL3	chr4:187112454-187113086	GM12878	blood:	n/a	chr4:187112925-187112938 chr4:187112961-187112974 chr4:187112583-187112596 chr4:187112636-187112645 chr4:187112569-187112582
18	BCLAF1	chr4:187112386-187113126	GM12878	blood:	n/a	chr4:187112925-187112938 chr4:187112961-187112974 chr4:187112583-187112596 chr4:187112636-187112645 chr4:187112569-187112582
19	BCLAF1	chr4:187112247-187113106	GM12878	blood:	n/a	chr4:187112372-187112380 chr4:187112925-187112938 chr4:187112961-187112974 chr4:187112583-187112596 chr4:187112636-187112645 chr4:187112569-187112582
20	BCLAF1	chr4:187112309-187112982	K562	blood:	n/a	chr4:187112372-187112380 chr4:187112925-187112938 chr4:187112961-187112974 chr4:187112583-187112596 chr4:187112636-187112645 chr4:187112569-187112582
21	BCLAF1	chr4:187112371-187112924	K562	blood:	n/a	chr4:187112372-187112380 chr4:187112583-187112596 chr4:187112636-187112645 chr4:187112569-187112582
22	BHLHE40	chr4:187090880-187090890	K562	blood:	n/a	n/a
23	BHLHE40	chr4:187137805-187137957	K562	blood:	n/a	n/a
24	BHLHE40	chr4:187125626-187125724	K562	blood:	n/a	n/a
25	BHLHE40	chr4:187123023-187123354	GM12878	blood:	n/a	n/a
26	BHLHE40	chr4:187124362-187124827	K562	blood:	n/a	n/a
27	BHLHE40	chr4:187111886-187113562	K562	blood:	n/a	chr4:187112845-187112861 chr4:187112767-187112783 chr4:187112578-187112594 chr4:187112957-187112973 chr4:187112853-187112869 chr4:187112956-187112972
28	BHLHE40	chr4:187113492-187113615	HepG2	liver:	n/a	n/a
29	BHLHE40	chr4:187112379-187112888	HepG2	liver:	n/a	chr4:187112845-187112861 chr4:187112767-187112783 chr4:187112578-187112594 chr4:187112853-187112869
30	BHLHE40	chr4:187123027-187123351	HepG2	liver:	n/a	n/a
31	BHLHE40	chr4:187112517-187112894	HepG2	liver:	n/a	chr4:187112845-187112861 chr4:187112767-187112783 chr4:187112578-187112594 chr4:187112853-187112869
32	BHLHE40	chr4:187112212-187112996	GM12878	blood:	n/a	chr4:187112845-187112861 chr4:187112767-187112783 chr4:187112578-187112594 chr4:187112957-187112973 chr4:187112853-187112869 chr4:187112956-187112972
33	BHLHE40	chr4:187123095-187123359	K562	blood:	n/a	n/a
34	BRCA1	chr4:187112323-187112508	HepG2	liver:	n/a	n/a
35	BRCA1	chr4:187112533-187112912	Hela-S3	cervix:	n/a	n/a
36	CBX3	chr4:187124447-187124877	K562	blood:	n/a	n/a
37	CBX3	chr4:187125169-187125671	K562	blood:	n/a	n/a
38	CBX3	chr4:187112100-187113171	K562	blood:	n/a	n/a
39	CCNT2	chr4:187111976-187113411	K562	blood:	n/a	chr4:187111995-187112004
40	CCNT2	chr4:187124521-187124882	K562	blood:	n/a	n/a
41	CEBPB	chr4:187143782-187143991	H1-hESC	embryonic stem cell:	n/a	chr4:187143836-187143847
42	CEBPB	chr4:187120243-187120434	K562	blood:	n/a	chr4:187120342-187120353
43	CEBPB	chr4:187125299-187125736	K562	blood:	n/a	n/a
44	CEBPB	chr4:187136984-187137184	HepG2	liver:	n/a	chr4:187137149-187137160 chr4:187136987-187137000
45	CEBPB	chr4:187089187-187089327	A549	lung:	n/a	n/a
46	CEBPB	chr4:187122970-187123240	A549	lung:	n/a	chr4:187123065-187123076
47	CEBPB	chr4:187122940-187123206	HepG2	liver:	n/a	chr4:187123065-187123076
48	CEBPB	chr4:187135180-187135291	HepG2	liver:	n/a	n/a
49	CEBPB	chr4:187120225-187120511	HepG2	liver:	n/a	chr4:187120342-187120353
50	CEBPB	chr4:187152925-187153145	K562	blood:	n/a	chr4:187153043-187153052 chr4:187153043-187153052 chr4:187153041-187153052 chr4:187153043-187153052 chr4:187153041-187153054 chr4:187153042-187153053 chr4:187153043-187153052

(count:1770 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:187148430-187148480	BE2_C	brain:	n/a
2	chr4:187148430-187148480	BE2_C	brain:	n/a
3	chr4:187133287-187133337	HEK293	kidney:	embryo
4	chr4:187125413-187125463	HPAEpiC	pulmonary alveolar:	n/a
5	chr4:187148688-187148738	NH-A	brain:	n/a
6	chr4:187133287-187133337	IMR90	lung:	fetal
7	chr4:187148009-187148059	PANC-1	pancreas:	n/a
8	chr4:187112537-187112587	HIPEpiC	eye:	n/a
9	chr4:187112650-187112700	HUVEC	blood vessel:	n/a
10	chr4:187111940-187111990	AoSMC	blood vessel:	n/a
11	chr4:187112650-187112700	HRCEpiC	kidney:	n/a
12	chr4:187126139-187126189	GM12878	blood:	n/a
13	chr4:187112650-187112700	HIPEpiC	eye:	n/a
14	chr4:187112041-187112091	SK-N-SH	brain:	n/a
15	chr4:187148563-187148613	SKMC	muscle:	n/a
16	chr4:187109237-187109287	HMEC	breast:	n/a
17	chr4:187112041-187112091	PANC-1	pancreas:	n/a
18	chr4:187126139-187126189	AG09319	gingival:	n/a
19	chr4:187133287-187133337	GM12878	blood:	n/a
20	chr4:187126114-187126164	SAEC	small airway:	n/a
21	chr4:187148563-187148613	PrEC	prostate:	n/a
22	chr4:187112519-187112569	HAEpiC	amniotic membrane:	n/a
23	chr4:187112763-187112813	HMEC	breast:	n/a
24	chr4:187112763-187112813	H1-hESC	embryonic stem cell:	embryo
25	chr4:187126114-187126164	MCF10A-Er-Src	breast:	n/a
26	chr4:187126114-187126164	HCPEpiC	choroid plexus:	n/a
27	chr4:187148009-187148059	AG09309	skin:	n/a
28	chr4:187111853-187111903	PrEC	prostate:	n/a
29	chr4:187133287-187133337	SKMC	muscle:	n/a
30	chr4:187112523-187112573	Jurkat	blood:	n/a
31	chr4:187126139-187126189	NB4	blood:	n/a
32	chr4:187148688-187148738	AG10803	skin:	n/a
33	chr4:187125413-187125463	NHBE	bronchial:	n/a
34	chr4:187115308-187115358	AG09319	gingival:	n/a
35	chr4:187113285-187113335	HepG2	liver:	n/a
36	chr4:187113578-187113628	HCPEpiC	choroid plexus:	n/a
37	chr4:187088191-187088241	SK-N-MC	brain:	n/a
38	chr4:187111853-187111903	AG09309	skin:	n/a
39	chr4:187112650-187112700	HL-60	blood:	n/a
40	chr4:187133287-187133337	A549	lung:	n/a
41	chr4:187148688-187148738	PrEC	prostate:	n/a
42	chr4:187112664-187112714	SK-N-SH	brain:	n/a
43	chr4:187115308-187115358	HCM	heart:	n/a
44	chr4:187113285-187113335	AG04450	lung:	fetal
45	chr4:187113285-187113335	HNPCEpiC	eye:	n/a
46	chr4:187126114-187126164	A549	lung:	n/a
47	chr4:187111853-187111903	AG04449	skin:	fetal
48	chr4:187090536-187090586	HCT-116	colon:	n/a
49	chr4:187112041-187112091	HCF	heart:	n/a
50	chr4:187125413-187125463	SAEC	small airway:	n/a

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:187131236..187132870-chr4:187133223..187136052,3	MCF-7	breast:
2	chr4:187128886..187131532-chr4:187133645..187136600,2	K562	blood:
3	chr4:187143055..187145709-chr4:187150430..187152573,2	K562	blood:
4	chr4:187131236..187132870-chr4:187133223..187136052,3	MCF-7	breast:
5	chr4:187150164..187152191-chr4:187152887..187155596,2	K562	blood:
6	chr4:187121686..187123375-chr4:187456206..187458817,2	K562	blood:
7	chr4:187118539..187120138-chr4:187121607..187123644,3	MCF-7	breast:
8	chr4:187091730..187094624-chr4:187097179..187100415,3	MCF-7	breast:
9	chr22:41487362..41488310-chr4:187112180..187112692,2	Hela-S3	cervix:
10	chr4:187117801..187120230-chr4:187120810..187122503,2	K562	blood:
11	chr4:187098304..187101860-chr4:187110284..187112773,3	K562	blood:
12	chr4:187109253..187118277-chr4:187122555..187126883,14	K562	blood:
13	chr4:187143055..187145709-chr4:187150430..187152573,2	K562	blood:
14	chr4:187083351..187085783-chr4:187086821..187088983,2	K562	blood:
15	chr4:187125089..187127684-chr4:187129515..187131962,3	K562	blood:
16	chr4:187117801..187120230-chr4:187120810..187122503,2	K562	blood:
17	chr4:187077276..187078819-chr4:187080715..187083352,2	K562	blood:
18	chr4:187092687..187094578-chr4:187097251..187099352,2	MCF-7	breast:
19	chr15:69111702..69112637-chr4:187112678..187113182,2	Hela-S3	cervix:
20	chr12:52452615..52453609-chr4:187112686..187113538,2	Hela-S3	cervix:
21	chr4:187092198..187094078-chr4:187111646..187113279,2	MCF-7	breast:
22	chr4:187062784..187065890-chr4:187111242..187113420,3	MCF-7	breast:
23	chr4:187116673..187118663-chr4:187119222..187120976,2	MCF-7	breast:
24	chr4:186009075..186012021-chr4:187112974..187115666,2	K562	blood:
25	chr4:187080678..187082912-chr4:187084577..187086317,2	K562	blood:
26	chr4:187111478..187116148-chr4:187117012..187120938,6	MCF-7	breast:
27	chr4:187116069..187118838-chr4:187120195..187124189,4	MCF-7	breast:
28	chr4:187058298..187058901-chr4:187122712..187123588,2	MCF-7	breast:
29	chr4:187106828..187109765-chr4:187110186..187112854,4	K562	blood:
30	chr4:187112410..187114289-chr4:187132953..187135385,2	K562	blood:
31	chr4:187092198..187094078-chr4:187111646..187113279,2	MCF-7	breast:
32	chr4:187083351..187085783-chr4:187086821..187088983,2	K562	blood:
33	chr4:187109253..187118277-chr4:187122555..187126883,14	K562	blood:
34	chr4:187122668..187125601-chr4:187127008..187128619,2	K562	blood:
35	chr4:187111353..187115983-chr4:187119045..187124895,10	MCF-7	breast:
36	chr4:187106383..187110529-chr4:187110531..187113610,6	K562	blood:
37	chr4:187125089..187127684-chr4:187129515..187131962,3	K562	blood:
38	chr4:187111478..187116148-chr4:187117012..187120938,6	MCF-7	breast:
39	chr4:187112006..187113547-chr4:187122764..187123712,6	MCF-7	breast:
40	chr4:187110911..187113910-chr4:187131548..187135864,4	K562	blood:
41	chr4:187118539..187120138-chr4:187121607..187123644,3	MCF-7	breast:
42	chr2:10182889..10183701-chr4:187112369..187113247,2	Hela-S3	cervix:
43	chr4:186988972..186989928-chr4:187122701..187123491,2	MCF-7	breast:
44	chr4:187150164..187152191-chr4:187152887..187155596,2	K562	blood:
45	chr4:187092687..187094578-chr4:187097251..187099352,2	MCF-7	breast:
46	chr4:187111874..187113781-chr4:187171263..187172793,2	MCF-7	breast:
47	chr4:187122087..187123852-chr4:187421026..187423788,3	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLKB1-1	chr4:187125266-187125400	NONHSAT099647
2	lnc-KLKB1-1	chr4:187125593-187125738	NONHSAT099647
3	lnc-CYP4V2-1	chr4:187137432-187137707	XLOC_003821
4	lnc-SORBS2-4	chr4:187110186-187112644	NONHSAT099644
5	lnc-CYP4V2-1	chr4:187137130-187137268	XLOC_003821
6	lnc-KLKB1-1	chr4:187125555-187125774	NONHSAT099646
7	lnc-KLKB1-1	chr4:187125257-187125426	NONHSAT099646
8	lnc-KLKB1-1	chr4:187125389-187125458	NONHSAT099648
9	lnc-KLKB1-1	chr4:187125555-187125762	NONHSAT099648

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CYP4V2	hsa-miR-192-5p	chr4:187131623-187131627
2	CYP4V2	hsa-miR-192-5p	chr4:187130411-187130426

Variant related genes	Relation type
FAM149A	TF binding region
CYP4V2	TF binding region
ENSG00000269302	TF binding region
KLKB1	TF binding region
ORAOV1P1	TF binding region
FAM149A	CpG island
CYP4V2	CpG island
ENSG00000269302	CpG island
KLKB1	CpG island
ORAOV1P1	CpG island
ENSG00000164344	chromatin interactions
ENSG00000251165	chromatin interactions
ENSG00000100393	chromatin interactions
ENSG00000269302	chromatin interactions
ENSG00000251008	chromatin interactions
ENSG00000172059	chromatin interactions
ENSG00000109794	chromatin interactions
ENSG00000145476	chromatin interactions
ENSG00000212387	chromatin interactions
ENSG00000259884	chromatin interactions
EIF3J	miRNA target sites
DOK3	miRNA target sites

Extended variants
information (count: 3005 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:3005 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371539620	chr4:187082738-187082739	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs546658906	chr4:187082741-187082742	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs528491553	chr4:187082751-187082752	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs190269894	chr4:187082753-187082754	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs568465856	chr4:187082791-187082792	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs529102746	chr4:187082856-187082857	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs146016901	chr4:187082868-187082869	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs61525425	chr4:187082873-187082874	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs139838860	chr4:187082897-187082898	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs114710499	chr4:187082924-187082925	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs115167422	chr4:187082937-187082938	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs548659093	chr4:187082973-187082974	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs12512328	chr4:187083063-187083064	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs147009085	chr4:187083069-187083070	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534273661	chr4:187083090-187083091	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112379340	chr4:187083128-187083129	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34944519	chr4:187083165-187083166	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115904675	chr4:187083221-187083222	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116213774	chr4:187083314-187083315	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141523403	chr4:187083320-187083321	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146221510	chr4:187083335-187083336	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4861704	chr4:187083343-187083344	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569425170	chr4:187083386-187083387	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs553457017	chr4:187083409-187083410	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs75028544	chr4:187083410-187083411	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs545041165	chr4:187083430-187083431	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs149895090	chr4:187083455-187083456	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs577886730	chr4:187083470-187083471	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs543685571	chr4:187083512-187083513	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs11733307	chr4:187083516-187083517	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs529050610	chr4:187083517-187083518	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs548669138	chr4:187083520-187083521	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs145816871	chr4:187083524-187083525	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs528102657	chr4:187083555-187083556	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs116664030	chr4:187083582-187083583	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs571207758	chr4:187083606-187083607	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs148547850	chr4:187083618-187083619	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs145712068	chr4:187083619-187083620	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs567862230	chr4:187083637-187083638	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs114385270	chr4:187083651-187083652	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs553520304	chr4:187083682-187083683	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs567155340	chr4:187083701-187083702	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs573229586	chr4:187083723-187083724	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs182995865	chr4:187083728-187083729	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs534535035	chr4:187083756-187083757	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs186265968	chr4:187083786-187083787	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs76661995	chr4:187083788-187083789	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs543358611	chr4:187083821-187083822	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs56960412	chr4:187083872-187083873	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs573508802	chr4:187083901-187083902	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17086460	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD

Chromatin state (count:1601 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187067000-187083600	Weak transcription	Brain Substantia Nigra	brain
2	chr4:187067200-187091800	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:187067400-187088000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:187067600-187085800	Weak transcription	Colonic Mucosa	Colon
5	chr4:187068600-187084400	Weak transcription	Brain Angular Gyrus	brain
6	chr4:187070600-187091200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:187071400-187088800	Weak transcription	Right Atrium	heart
8	chr4:187071400-187090000	Weak transcription	Stomach Mucosa	stomach
9	chr4:187071600-187083000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr4:187071600-187084800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr4:187071600-187089400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:187071600-187089600	Weak transcription	Placenta	Placenta
13	chr4:187071600-187091200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:187073600-187087200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr4:187074600-187088400	Strong transcription	Fetal Intestine Small	intestine
16	chr4:187074800-187085200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:187078800-187086600	Strong transcription	Fetal Brain Female	brain
18	chr4:187080000-187087600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:187080000-187087600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr4:187080000-187088000	Weak transcription	Aorta	Aorta
21	chr4:187080000-187089000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:187080000-187090000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr4:187080000-187091400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr4:187080000-187091600	Strong transcription	Fetal Stomach	stomach
25	chr4:187080000-187092200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr4:187080000-187092200	Weak transcription	Spleen	Spleen
27	chr4:187080000-187094000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr4:187080200-187094000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr4:187080600-187090400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr4:187081000-187099200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:187081400-187083600	Weak transcription	Ovary	ovary
32	chr4:187081400-187087600	Weak transcription	Esophagus	oesophagus
33	chr4:187081600-187082800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr4:187081600-187083000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr4:187081600-187087400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr4:187081600-187089800	Weak transcription	Brain Hippocampus Middle	brain
37	chr4:187081800-187082800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr4:187081800-187082800	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr4:187082000-187082800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr4:187082000-187083400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:187082000-187083400	Weak transcription	Adipose Nuclei	Adipose
42	chr4:187082000-187083400	Weak transcription	Pancreas	Pancrea
43	chr4:187082000-187083600	Weak transcription	Fetal Intestine Large	intestine
44	chr4:187082000-187083600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr4:187082000-187084000	Weak transcription	Gastric	stomach
46	chr4:187082000-187084200	Weak transcription	Brain Anterior Caudate	brain
47	chr4:187082000-187087400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr4:187082000-187089200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:187082000-187090000	Weak transcription	Fetal Muscle Leg	muscle
50	chr4:187082000-187090800	Weak transcription	Fetal Kidney	kidney

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