Variant report

Variant	nsv1027118
Chromosome Location	chr4:186935586-187133222
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3502)
CpG islands
(count:4766)
Chromatin interactive
region (count:79)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:3502 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:187123009-187123375	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:187112517-187112766	K562	blood:	n/a	n/a
3	ARID3A	chr4:187058644-187058864	K562	blood:	n/a	n/a
4	ARID3A	chr4:186942758-186943110	HepG2	liver:	n/a	n/a
5	ARID3A	chr4:186989219-186989538	HepG2	liver:	n/a	n/a
6	ARID3A	chr4:187058552-187058902	HepG2	liver:	n/a	n/a
7	ARID3A	chr4:187112910-187112928	HepG2	liver:	n/a	n/a
8	ARID3A	chr4:187124713-187124813	K562	blood:	n/a	n/a
9	ATF1	chr4:187027151-187027480	K562	blood:	n/a	n/a
10	ATF1	chr4:187125220-187125793	K562	blood:	n/a	n/a
11	ATF2	chr4:187071057-187071421	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr4:187112340-187112962	GM12878	blood:	n/a	n/a
13	ATF2	chr4:187055315-187055866	GM12878	blood:	n/a	n/a
14	ATF2	chr4:187111626-187112084	GM12878	blood:	n/a	n/a
15	ATF2	chr4:186979842-186980247	GM12878	blood:	n/a	n/a
16	ATF2	chr4:187027166-187027483	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr4:187112363-187112834	GM12878	blood:	n/a	n/a
18	ATF3	chr4:187123084-187123309	K562	blood:	n/a	n/a
19	ATF3	chr4:187112294-187112519	K562	blood:	n/a	n/a
20	BACH1	chr4:187026701-187026862	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr4:187112705-187112885	K562	blood:	n/a	n/a
22	BACH1	chr4:187025719-187026243	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr4:187111645-187113416	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr4:187066156-187066584	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr4:187082521-187082663	H1-hESC	embryonic stem cell:	n/a	n/a
26	BATF	chr4:187055371-187055785	GM12878	blood:	n/a	n/a
27	BATF	chr4:186954961-186955292	GM12878	blood:	n/a	n/a
28	BATF	chr4:187055418-187055866	GM12878	blood:	n/a	n/a
29	BATF	chr4:186979789-186980186	GM12878	blood:	n/a	n/a
30	BATF	chr4:187058420-187058694	GM12878	blood:	n/a	n/a
31	BATF	chr4:187058431-187058728	GM12878	blood:	n/a	n/a
32	BCL11A	chr4:186979842-186980224	GM12878	blood:	n/a	n/a
33	BCL11A	chr4:187055420-187055843	GM12878	blood:	n/a	n/a
34	BCL11A	chr4:186979854-186980169	GM12878	blood:	n/a	n/a
35	BCL11A	chr4:187112453-187112795	GM12878	blood:	n/a	chr4:187112583-187112596 chr4:187112636-187112645 chr4:187112569-187112582
36	BCL3	chr4:187055433-187055716	GM12878	blood:	n/a	n/a
37	BCL3	chr4:187123689-187124048	GM12878	blood:	n/a	n/a
38	BCL3	chr4:187059720-187060074	GM12878	blood:	n/a	n/a
39	BCL3	chr4:186979865-186980155	GM12878	blood:	n/a	n/a
40	BCL3	chr4:187112551-187113002	GM12878	blood:	n/a	chr4:187112925-187112938 chr4:187112961-187112974 chr4:187112583-187112596 chr4:187112636-187112645 chr4:187112569-187112582
41	BCL3	chr4:187112454-187113086	GM12878	blood:	n/a	chr4:187112925-187112938 chr4:187112961-187112974 chr4:187112583-187112596 chr4:187112636-187112645 chr4:187112569-187112582
42	BCL3	chr4:186979857-186980236	GM12878	blood:	n/a	n/a
43	BCLAF1	chr4:187055428-187055813	GM12878	blood:	n/a	n/a
44	BCLAF1	chr4:187112371-187112924	K562	blood:	n/a	chr4:187112372-187112380 chr4:187112583-187112596 chr4:187112636-187112645 chr4:187112569-187112582
45	BCLAF1	chr4:187055345-187055835	GM12878	blood:	n/a	n/a
46	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
47	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
48	BCLAF1	chr4:187112386-187113126	GM12878	blood:	n/a	chr4:187112925-187112938 chr4:187112961-187112974 chr4:187112583-187112596 chr4:187112636-187112645 chr4:187112569-187112582
49	BHLHE40	chr4:187090880-187090890	K562	blood:	n/a	n/a
50	BHLHE40	chr4:187112517-187112894	HepG2	liver:	n/a	chr4:187112845-187112861 chr4:187112767-187112783 chr4:187112578-187112594 chr4:187112853-187112869

(count:4766 , 50 per page) page: 1 2 3 4 5 6 7 ... 96

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:187112523-187112573	Hela-S3	cervix:	n/a
2	chr4:186944988-186945038	Jurkat	blood:	n/a
3	chr4:187065950-187066000	HPAEpiC	pulmonary alveolar:	n/a
4	chr4:186945339-186945389	CMK	blood:	n/a
5	chr4:187078828-187078878	GM12892	blood:	n/a
6	chr4:187088169-187088219	Jurkat	blood:	n/a
7	chr4:187078771-187078821	GM19239	blood:	n/a
8	chr4:186960991-186961041	GM12892	blood:	n/a
9	chr4:187112523-187112573	Hela-S3	cervix:	n/a
10	chr4:186944988-186945038	Jurkat	blood:	n/a
11	chr4:187065950-187066000	HPAEpiC	pulmonary alveolar:	n/a
12	chr4:186945339-186945389	CMK	blood:	n/a
13	chr4:187078828-187078878	GM12892	blood:	n/a
14	chr4:187088169-187088219	Jurkat	blood:	n/a
15	chr4:187078771-187078821	GM19239	blood:	n/a
16	chr4:186960991-186961041	GM12892	blood:	n/a
17	chr4:186944988-186945038	T-47D	breast:	n/a
18	chr4:187002617-187002667	HCPEpiC	choroid plexus:	n/a
19	chr4:187003000-187003050	HIPEpiC	eye:	n/a
20	chr4:187112523-187112573	HEK293	kidney:	embryo
21	chr4:187088169-187088219	AG04450	lung:	fetal
22	chr4:187088191-187088241	ECC-1	luminal epithelium:	n/a
23	chr4:187111940-187111990	HEEpiC	esophagus:	n/a
24	chr4:187053574-187053624	HMEC	breast:	n/a
25	chr4:186944948-186944998	GM12892	blood:	n/a
26	chr4:187065940-187065990	HCPEpiC	choroid plexus:	n/a
27	chr4:187002617-187002667	RPTEC	kidney:	n/a
28	chr4:187025420-187025470	AG04450	lung:	fetal
29	chr4:187070357-187070407	A549	lung:	n/a
30	chr4:187112763-187112813	HCT-116	colon:	n/a
31	chr4:187065713-187065763	AG04450	lung:	fetal
32	chr4:186990202-186990252	NH-A	brain:	n/a
33	chr4:187013645-187013695	HCT-116	colon:	n/a
34	chr4:187078828-187078878	A549	lung:	n/a
35	chr4:187023193-187023243	HEK293	kidney:	embryo
36	chr4:187126073-187126123	HepG2	liver:	n/a
37	chr4:187112537-187112587	HNPCEpiC	eye:	n/a
38	chr4:187000846-187000896	HMEC	breast:	n/a
39	chr4:187070303-187070353	Jurkat	blood:	n/a
40	chr4:187026710-187026760	ProgFib	skin:	n/a
41	chr4:187053574-187053624	HEK293	kidney:	embryo
42	chr4:187065955-187066005	AoSMC	blood vessel:	n/a
43	chr4:187088169-187088219	SK-N-MC	brain:	n/a
44	chr4:187066505-187066555	HRE	kidney:	n/a
45	chr4:187111841-187111891	HNPCEpiC	eye:	n/a
46	chr4:187070357-187070407	NHBE	bronchial:	n/a
47	chr4:187126139-187126189	BE2_C	brain:	n/a
48	chr4:187066430-187066480	HNPCEpiC	eye:	n/a
49	chr4:187113578-187113628	LNCaP	prostate:	n/a
50	chr4:186990006-186990056	AG04450	lung:	fetal

(count:79 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:186953201..186953720-chr4:187058277..187058867,2	MCF-7	breast:
2	chr4:186561919..186562574-chr4:186942657..186943394,3	MCF-7	breast:
3	chr4:187111874..187113781-chr4:187171263..187172793,2	MCF-7	breast:
4	chr4:187058298..187058901-chr4:187122712..187123588,2	MCF-7	breast:
5	chr4:187091730..187094624-chr4:187097179..187100415,3	MCF-7	breast:
6	chr4:187092687..187094578-chr4:187097251..187099352,2	MCF-7	breast:
7	chr4:187122668..187125601-chr4:187127008..187128619,2	K562	blood:
8	chr4:187065362..187066941-chr4:187069127..187071220,2	K562	blood:
9	chr4:187000465..187002106-chr4:187010501..187012706,2	MCF-7	breast:
10	chr4:186988895..186989419-chr4:187058283..187058978,2	K562	blood:
11	chr4:187077276..187078819-chr4:187080715..187083352,2	K562	blood:
12	chr4:187125089..187127684-chr4:187129515..187131962,3	K562	blood:
13	chr4:187092198..187094078-chr4:187111646..187113279,2	MCF-7	breast:
14	chr4:187036166..187038039-chr4:187110587..187113537,2	K562	blood:
15	chr4:187065362..187066941-chr4:187069127..187071220,2	K562	blood:
16	chr4:186988972..186989928-chr4:187122701..187123491,2	MCF-7	breast:
17	chr4:187053833..187057505-chr4:187060435..187064133,3	K562	blood:
18	chr4:187112006..187113547-chr4:187122764..187123712,6	MCF-7	breast:
19	chr4:187061612..187063617-chr4:187065011..187066705,2	K562	blood:
20	chr4:187110911..187113910-chr4:187131548..187135864,4	K562	blood:
21	chr4:187062784..187065890-chr4:187111242..187113420,3	MCF-7	breast:
22	chr4:187121686..187123375-chr4:187456206..187458817,2	K562	blood:
23	chr4:187106383..187110529-chr4:187110531..187113610,6	K562	blood:
24	chr4:187112410..187114289-chr4:187132953..187135385,2	K562	blood:
25	chr4:186009075..186012021-chr4:187112974..187115666,2	K562	blood:
26	chr4:187116673..187118663-chr4:187119222..187120976,2	MCF-7	breast:
27	chr4:187111353..187115983-chr4:187119045..187124895,10	MCF-7	breast:
28	chr4:186981542..186984257-chr4:186986669..186988190,2	MCF-7	breast:
29	chr4:187109253..187118277-chr4:187122555..187126883,14	K562	blood:
30	chr4:187111478..187116148-chr4:187117012..187120938,6	MCF-7	breast:
31	chr4:187092198..187094078-chr4:187111646..187113279,2	MCF-7	breast:
32	chr16:17073810..17074454-chr4:186958456..186959434,2	MCF-7	breast:
33	chr4:187106828..187109765-chr4:187110186..187112854,4	K562	blood:
34	chr4:187009172..187011759-chr4:187017494..187019918,3	K562	blood:
35	chr4:187117801..187120230-chr4:187120810..187122503,2	K562	blood:
36	chr4:187002937..187005829-chr4:187012756..187015507,2	MCF-7	breast:
37	chr4:187053677..187057505-chr4:187060435..187064236,4	K562	blood:
38	chr4:187116069..187118838-chr4:187120195..187124189,4	MCF-7	breast:
39	chr4:187023730..187026664-chr4:187030524..187032198,2	MCF-7	breast:
40	chr2:10182889..10183701-chr4:187112369..187113247,2	Hela-S3	cervix:
41	chr4:186561682..186562601-chr4:186936140..186936998,3	MCF-7	breast:
42	chr4:186953201..186953720-chr4:187058277..187058867,2	MCF-7	breast:
43	chr4:187000465..187002106-chr4:187010501..187012706,2	MCF-7	breast:
44	chr4:186543758..186545756-chr4:186936731..186939343,2	K562	blood:
45	chr4:187109253..187118277-chr4:187122555..187126883,14	K562	blood:
46	chr4:187098304..187101860-chr4:187110284..187112773,3	K562	blood:
47	chr4:186985477..186986987-chr4:187047828..187050010,2	K562	blood:
48	chr4:187083351..187085783-chr4:187086821..187088983,2	K562	blood:
49	chr4:186988859..186989716-chr4:187058329..187059203,5	MCF-7	breast:
50	chr4:186988859..186989716-chr4:187058329..187059203,5	MCF-7	breast:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLKB1-1	chr4:187125389-187125458	NONHSAT099648
2	lnc-KLKB1-1	chr4:187125257-187125426	NONHSAT099646
3	lnc-TLR3-1	chr4:186938433-186938541	XLOC_003820
4	lnc-SORBS2-2	chr4:186940952-186941235	XLOC_004212
5	lnc-KLKB1-1	chr4:187125555-187125774	NONHSAT099646
6	lnc-TLR3-1	chr4:186936734-186936900	XLOC_003820
7	lnc-KLKB1-1	chr4:187125593-187125738	NONHSAT099647
8	lnc-KLKB1-1	chr4:187125555-187125762	NONHSAT099648
9	lnc-TLR3-1	chr4:186939607-186940103	XLOC_003820
10	lnc-SORBS2-2	chr4:186937392-186938595	XLOC_004212
11	lnc-SORBS2-4	chr4:187110186-187112644	NONHSAT099644
12	lnc-KLKB1-1	chr4:187125266-187125400	NONHSAT099647

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	chr4:187130411-187130426
2	CYP4V2	hsa-miR-192-5p	chr4:187131623-187131627

Variant related genes	Relation type
CYP4V2	TF binding region
ENSG00000253013	TF binding region
ENSG00000250327	TF binding region
FAM149A	TF binding region
RNU4-64P	TF binding region
ENSG00000269302	TF binding region
TLR3	TF binding region
KLKB1	TF binding region
ORAOV1P1	TF binding region
CYP4V2	CpG island
ENSG00000253013	CpG island
ENSG00000250327	CpG island
FAM149A	CpG island
RNU4-64P	CpG island
ENSG00000269302	CpG island
TLR3	CpG island
KLKB1	CpG island
ORAOV1P1	CpG island
ENSG00000251165	chromatin interactions
ENSG00000269302	chromatin interactions
ENSG00000109794	chromatin interactions
ENSG00000212387	chromatin interactions
ENSG00000145476	chromatin interactions
ENSG00000250641	chromatin interactions
ENSG00000164344	chromatin interactions
ENSG00000222727	chromatin interactions
ENSG00000100393	chromatin interactions
ENSG00000251008	chromatin interactions
ENSG00000204424	chromatin interactions
ENSG00000172059	chromatin interactions
ENSG00000259884	chromatin interactions
DOK3	miRNA target sites
EIF3J	miRNA target sites

Extended variants
information (count: 8407 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:8407 , 50 per page) page: 1 2 3 4 5 6 7 ... 169

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528881269	chr4:186935594-186935595	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs201839023	chr4:186935617-186935618	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs145759937	chr4:186935618-186935619	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs369051953	chr4:186935619-186935620	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs10523439	chr4:186935622-186935623	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549039905	chr4:186935644-186935645	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs112179128	chr4:186935655-186935656	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs201813550	chr4:186935681-186935682	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs141616406	chr4:186935726-186935727	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs200262528	chr4:186935730-186935731	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs201420872	chr4:186935733-186935734	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs200100135	chr4:186935739-186935740	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs4862616	chr4:186935740-186935741	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs4861693	chr4:186935748-186935749	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs77043094	chr4:186935749-186935750	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs4861694	chr4:186935750-186935751	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs4861695	chr4:186935757-186935758	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs4862617	chr4:186935764-186935765	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs542606648	chr4:186935766-186935767	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs568612414	chr4:186935782-186935783	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs552900470	chr4:186935802-186935803	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs149372231	chr4:186935821-186935822	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs146250686	chr4:186935829-186935830	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs4861696	chr4:186935835-186935836	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs532960720	chr4:186935858-186935859	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs570901881	chr4:186935901-186935902	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs375338816	chr4:186935969-186935970	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs543636398	chr4:186935982-186935983	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs563364076	chr4:186935997-186935998	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs112024685	chr4:186936000-186936001	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs78323871	chr4:186936003-186936004	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs183673289	chr4:186936044-186936045	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs188440854	chr4:186936067-186936068	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs201578110	chr4:186936068-186936069	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs6812940	chr4:186936082-186936083	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs528111574	chr4:186936115-186936116	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs551762781	chr4:186936133-186936134	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs571939567	chr4:186936164-186936165	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs537235890	chr4:186936204-186936205	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs139325748	chr4:186936231-186936232	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs547249610	chr4:186936240-186936241	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs567520867	chr4:186936258-186936259	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs77997247	chr4:186936280-186936281	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs553065876	chr4:186936288-186936289	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs115439475	chr4:186936301-186936302	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs545413304	chr4:186936390-186936391	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs557752264	chr4:186936402-186936403	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs577909865	chr4:186936403-186936404	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs543249668	chr4:186936440-186936441	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs563428022	chr4:186936448-186936449	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD

Chromatin state (count:4067 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186919800-186936400	Weak transcription	Right Atrium	heart
2	chr4:186929600-186937400	Weak transcription	Spleen	Spleen
3	chr4:186933800-186935800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr4:186934200-186935800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:186934200-186936400	Weak transcription	Right Ventricle	heart
6	chr4:186934200-186936600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:186934800-186936400	Weak transcription	Left Ventricle	heart
8	chr4:186934800-186946400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:186934800-186950400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:186935000-186936400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr4:186935000-186936400	Weak transcription	Fetal Heart	heart
12	chr4:186935000-186939000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:186935000-186942000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:186935400-186936400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:186935400-186936400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr4:186935400-186936600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr4:186935400-186938600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:186935400-186939000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:186935800-186936200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:186936200-186936800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr4:186936400-186936600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr4:186936400-186936600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr4:186936400-186936600	Enhancers	Right Atrium	heart
24	chr4:186936400-186936600	Flanking Active TSS	HSMMtube	muscle
25	chr4:186936400-186936800	Enhancers	Placenta	Placenta
26	chr4:186936400-186936800	Active TSS	Left Ventricle	heart
27	chr4:186936400-186936800	Active TSS	Right Ventricle	heart
28	chr4:186936400-186937000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr4:186936400-186937000	Enhancers	Fetal Heart	heart
30	chr4:186936600-186936800	Enhancers	HSMMtube	muscle
31	chr4:186936600-186938600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr4:186936600-186942400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr4:186936600-186942600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr4:186936800-186939000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr4:186936800-186941600	Weak transcription	Right Ventricle	heart
36	chr4:186936800-186942200	Weak transcription	HSMMtube	muscle
37	chr4:186936800-186942600	Weak transcription	Placenta	Placenta
38	chr4:186936800-186942600	Weak transcription	Left Ventricle	heart
39	chr4:186937000-186938800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr4:186937000-186940800	Weak transcription	Fetal Heart	heart
41	chr4:186937600-186938800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr4:186938000-186938400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:186938400-186942600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:186938600-186939600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr4:186938800-186939000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr4:186938800-186941400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr4:186939000-186939200	Enhancers	H1 Cell Line	embryonic stem cell
48	chr4:186939000-186939200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr4:186939000-186939400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr4:186939000-186939800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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