Variant report

Variant	nsv878495
Chromosome Location	chr4:3496150-3536002
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1061)
CpG islands
(count:5253)
Chromatin interactive
region (count:78)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1061 , 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	ATF3	chr4:3534190-3534376	K562	blood:	n/a	chr4:3534199-3534208
2	BACH1	chr4:3496152-3496215	K562	blood:	n/a	n/a
3	BACH1	chr4:3534341-3534527	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL11A	chr4:3510967-3511421	GM12878	blood:	n/a	n/a
5	BCL3	chr4:3508714-3509066	GM12878	blood:	n/a	n/a
6	BCL3	chr4:3512247-3512618	GM12878	blood:	n/a	n/a
7	BCL3	chr4:3512243-3512645	GM12878	blood:	n/a	n/a
8	BHLHE40	chr4:3501057-3501246	K562	blood:	n/a	n/a
9	BHLHE40	chr4:3526656-3526687	K562	blood:	n/a	n/a
10	BHLHE40	chr4:3533592-3533765	HepG2	liver:	n/a	n/a
11	BHLHE40	chr4:3534103-3534388	GM12878	blood:	n/a	chr4:3534255-3534271
12	BHLHE40	chr4:3531217-3531410	GM12878	blood:	n/a	n/a
13	BHLHE40	chr4:3533473-3534097	K562	blood:	n/a	n/a
14	BHLHE40	chr4:3534312-3534557	K562	blood:	n/a	n/a
15	BHLHE40	chr4:3496279-3496546	HepG2	liver:	n/a	chr4:3496388-3496404
16	BHLHE40	chr4:3533345-3533603	GM12878	blood:	n/a	n/a
17	BRCA1	chr4:3533960-3534251	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr4:3534268-3534443	H1-hESC	embryonic stem cell:	n/a	n/a
19	CBX3	chr4:3533901-3534490	K562	blood:	n/a	n/a
20	CCNT2	chr4:3533326-3534821	K562	blood:	n/a	chr4:3534199-3534208
21	CCNT2	chr4:3503956-3504114	K562	blood:	n/a	chr4:3504025-3504034
22	CCNT2	chr4:3499800-3499935	K562	blood:	n/a	n/a
23	CCNT2	chr4:3516631-3516822	K562	blood:	n/a	n/a
24	CCNT2	chr4:3499440-3499519	K562	blood:	n/a	n/a
25	CEBPB	chr4:3506327-3506529	IMR90	lung:	n/a	n/a
26	CEBPB	chr4:3531147-3531472	HepG2	liver:	n/a	n/a
27	CEBPB	chr4:3533116-3533249	HepG2	liver:	n/a	n/a
28	CEBPB	chr4:3506326-3506475	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr4:3531225-3531508	K562	blood:	n/a	chr4:3531492-3531500
30	CEBPB	chr4:3531243-3531383	HepG2	liver:	n/a	n/a
31	CEBPD	chr4:3498169-3498383	HepG2	liver:	n/a	n/a
32	CEBPD	chr4:3533804-3534326	HepG2	liver:	n/a	n/a
33	CHD1	chr4:3533909-3534147	GM12878	blood:	n/a	n/a
34	CHD1	chr4:3533932-3534160	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD2	chr4:3531250-3531462	GM12878	blood:	n/a	n/a
36	CHD2	chr4:3534074-3534926	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD2	chr4:3533971-3534404	K562	blood:	n/a	n/a
38	CHD2	chr4:3533961-3534405	HepG2	liver:	n/a	n/a
39	CHD2	chr4:3496377-3496397	K562	blood:	n/a	n/a
40	CHD2	chr4:3498169-3498177	HepG2	liver:	n/a	n/a
41	CHD2	chr4:3533878-3534422	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr4:3533933-3534570	GM12878	blood:	n/a	n/a
43	CREB1	chr4:3533924-3534470	A549	lung:	n/a	n/a
44	CREB1	chr4:3533827-3534423	GM12878	blood:	n/a	n/a
45	CTCF	chr4:3534040-3534190	AG04449	skin:	n/a	n/a
46	CTCF	chr4:3516580-3516730	HEEpiC	esophagus:	n/a	chr4:3516701-3516717 chr4:3516700-3516718 chr4:3516695-3516716
47	CTCF	chr4:3516657-3516793	HepG2	liver:	n/a	chr4:3516701-3516717 chr4:3516700-3516718 chr4:3516695-3516716
48	CTCF	chr4:3533645-3533728	GM10266	blood:	n/a	n/a
49	CTCF	chr4:3516560-3516710	GM12874	blood:	n/a	n/a
50	CTCF	chr4:3533642-3533694	NHEK	skin:	n/a	n/a

(count:5253 , 50 per page) page: 1 2 3 4 5 6 7 ... 106

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:3527090-3527140	HEEpiC	esophagus:	n/a
2	chr4:3521481-3521531	HEEpiC	esophagus:	n/a
3	chr4:3526751-3526801	HEEpiC	esophagus:	n/a
4	chr4:3534845-3534895	GM12892	blood:	n/a
5	chr4:3526865-3526915	HIPEpiC	eye:	n/a
6	chr4:3512607-3512657	SAEC	small airway:	n/a
7	chr4:3520760-3520810	NB4	blood:	n/a
8	chr4:3527090-3527140	HEEpiC	esophagus:	n/a
9	chr4:3521481-3521531	HEEpiC	esophagus:	n/a
10	chr4:3526751-3526801	HEEpiC	esophagus:	n/a
11	chr4:3534845-3534895	GM12892	blood:	n/a
12	chr4:3526865-3526915	HIPEpiC	eye:	n/a
13	chr4:3512607-3512657	SAEC	small airway:	n/a
14	chr4:3520760-3520810	NB4	blood:	n/a
15	chr4:3534308-3534358	BE2_C	brain:	n/a
16	chr4:3502381-3502431	PFSK-1	brain:	n/a
17	chr4:3511597-3511647	HMEC	breast:	n/a
18	chr4:3519929-3519979	MCF-7	breast:	n/a
19	chr4:3520389-3520439	GM12891	blood:	n/a
20	chr4:3505042-3505092	HMEC	breast:	n/a
21	chr4:3514709-3514759	HL-60	blood:	n/a
22	chr4:3514627-3514677	A549	lung:	n/a
23	chr4:3518057-3518107	ECC-1	luminal epithelium:	n/a
24	chr4:3514800-3514850	K562	blood:	n/a
25	chr4:3496300-3496350	BE2_C	brain:	n/a
26	chr4:3520716-3520766	Caco-2	colon:	n/a
27	chr4:3518121-3518171	HIPEpiC	eye:	n/a
28	chr4:3505905-3505955	AoSMC	blood vessel:	n/a
29	chr4:3517885-3517935	RPTEC	kidney:	n/a
30	chr4:3510723-3510773	NHDF-neo	bronchial:	n/a
31	chr4:3534845-3534895	AG04449	skin:	fetal
32	chr4:3502518-3502568	ECC-1	luminal epithelium:	n/a
33	chr4:3521512-3521562	SK-N-MC	brain:	n/a
34	chr4:3514627-3514677	HIPEpiC	eye:	n/a
35	chr4:3514709-3514759	T-47D	breast:	n/a
36	chr4:3512607-3512657	AG04449	skin:	fetal
37	chr4:3520716-3520766	MCF-7	breast:	n/a
38	chr4:3514540-3514590	NT2-D1	testis:	n/a
39	chr4:3534276-3534326	HCF	heart:	n/a
40	chr4:3516534-3516584	SKMC	muscle:	n/a
41	chr4:3520016-3520066	MCF10A-Er-Src	breast:	n/a
42	chr4:3531794-3531844	SK-N-SH_RA	brain:	n/a
43	chr4:3525821-3525871	NB4	blood:	n/a
44	chr4:3527090-3527140	LNCaP	prostate:	n/a
45	chr4:3520389-3520439	NH-A	brain:	n/a
46	chr4:3514627-3514677	SK-N-MC	brain:	n/a
47	chr4:3531794-3531844	AG09319	gingival:	n/a
48	chr4:3534149-3534199	Hela-S3	cervix:	n/a
49	chr4:3507205-3507255	GM06990	blood:	n/a
50	chr4:3534156-3534206	Caco-2	colon:	n/a

(count:78 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:3499355..3501891-chr4:3505956..3508239,2	K562	blood:
2	chr4:3495965..3498998-chr4:3502013..3504996,4	K562	blood:
3	chr4:3510937..3515014-chr4:3516232..3518193,3	K562	blood:
4	chr4:3505279..3507142-chr4:3509021..3511655,2	K562	blood:
5	chr4:3510589..3512915-chr4:3532511..3535420,4	K562	blood:
6	chr4:3499074..3501837-chr4:3515567..3517558,2	K562	blood:
7	chr4:3505996..3508502-chr4:3532623..3535240,2	MCF-7	breast:
8	chr4:3495267..3497538-chr4:3499931..3501588,2	K562	blood:
9	chr4:3529703..3532133-chr4:3955837..3958185,2	MCF-7	breast:
10	chr4:3292635..3294292-chr4:3500969..3502505,2	MCF-7	breast:
11	chr4:3491033..3494897-chr4:3496204..3500010,5	K562	blood:
12	chr4:3493092..3495587-chr4:3516926..3518473,2	K562	blood:
13	chr4:3499074..3501837-chr4:3515567..3517558,2	K562	blood:
14	chr4:3518640..3520994-chr4:3527173..3529656,3	MCF-7	breast:
15	chr4:3521425..3524025-chr4:3532674..3534479,3	MCF-7	breast:
16	chr4:3488541..3491242-chr4:3495615..3498535,2	K562	blood:
17	chr4:3521585..3525793-chr4:3532083..3534237,4	MCF-7	breast:
18	chr4:3495267..3497538-chr4:3499931..3501588,2	K562	blood:
19	chr4:3521183..3522929-chr4:3528082..3530849,2	MCF-7	breast:
20	chr4:3520184..3523164-chr4:3523314..3526505,3	MCF-7	breast:
21	chr4:3520184..3523164-chr4:3523314..3526505,3	MCF-7	breast:
22	chr4:3500639..3503471-chr4:3531403..3534143,3	K562	blood:
23	chr4:3495965..3498998-chr4:3502013..3504996,4	K562	blood:
24	chr4:3316773..3319078-chr4:3532523..3535417,2	K562	blood:
25	chr4:3485927..3488368-chr4:3533732..3536345,3	MCF-7	breast:
26	chr4:3498309..3502581-chr4:3507036..3510283,5	MCF-7	breast:
27	chr4:3505996..3508502-chr4:3532623..3535240,2	MCF-7	breast:
28	chr4:3496237..3498612-chr4:3527624..3529896,2	K562	blood:
29	chr4:3496124..3499190-chr4:3513529..3517461,3	MCF-7	breast:
30	chr4:3500184..3501840-chr4:3502540..3504182,2	MCF-7	breast:
31	chr4:3532933..3534970-chr4:3765784..3768236,2	MCF-7	breast:
32	chr4:3498309..3502581-chr4:3507036..3510283,5	MCF-7	breast:
33	chr4:3507434..3509576-chr4:3524898..3527608,2	K562	blood:
34	chr4:3533711..3534459-chr4:37827885..37828819,2	NB4	blood:
35	chr4:3510428..3515439-chr4:3527713..3530558,4	K562	blood:
36	chr4:3510589..3512915-chr4:3532511..3535420,4	K562	blood:
37	chr4:3526212..3528874-chr4:3529916..3531875,2	MCF-7	breast:
38	chr4:3501592..3503192-chr4:3503261..3504809,2	MCF-7	breast:
39	chr19:10443695..10444576-chr4:3533618..3534349,2	NB4	blood:
40	chr4:3516564..3519822-chr4:3521615..3524887,4	K562	blood:
41	chr4:3516783..3519822-chr4:3520546..3524887,6	K562	blood:
42	chr17:8076317..8077036-chr4:3533772..3534554,2	Hela-S3	cervix:
43	chr4:3510781..3520846-chr4:3531784..3535437,12	MCF-7	breast:
44	chr4:3484276..3486536-chr4:3514964..3516721,2	MCF-7	breast:
45	chr4:3509156..3510726-chr4:3517866..3519837,2	K562	blood:
46	chr4:3510781..3520846-chr4:3531784..3535437,12	MCF-7	breast:
47	chr4:3490007..3491895-chr4:3517979..3519812,2	K562	blood:
48	chr4:3481541..3484039-chr4:3515010..3518175,3	MCF-7	breast:
49	chr4:3493760..3497427-chr4:3530386..3532634,3	MCF-7	breast:
50	chr4:3500184..3501840-chr4:3502540..3504182,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000268781	TF binding region
LRPAP1	TF binding region
ENSG00000261643	TF binding region
ENSG00000268781	CpG island
LRPAP1	CpG island
ENSG00000261643	CpG island
ENSG00000161847	chromatin interactions
ENSG00000175920	chromatin interactions
ENSG00000163956	chromatin interactions
ENSG00000251669	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000159788	chromatin interactions
ENSG00000270090	chromatin interactions
ENSG00000200463	chromatin interactions
ENSG00000253917	chromatin interactions
ENSG00000169299	chromatin interactions
ENSG00000261643	chromatin interactions
ENSG00000184160	chromatin interactions
ENSG00000268781	chromatin interactions
ENSG00000142178	chromatin interactions

Extended variants
information (count: 2516 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:2516 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1054662	chr4:3496150-3496151	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs565508391	chr4:3496158-3496159	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs530128422	chr4:3496168-3496169	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs567343464	chr4:3496171-3496172	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs146159989	chr4:3496172-3496173	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs370388494	chr4:3496175-3496176	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs528295866	chr4:3496202-3496203	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2105849	chr4:3496205-3496206	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs567550002	chr4:3496224-3496225	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs371048872	chr4:3496227-3496228	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs141337502	chr4:3496241-3496242	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs556636833	chr4:3496243-3496244	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs373492328	chr4:3496249-3496250	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs75173882	chr4:3496261-3496262	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs2699413	chr4:3496285-3496286	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs181747594	chr4:3496292-3496293	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs186937663	chr4:3496294-3496295	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs544063402	chr4:3496295-3496296	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs559194815	chr4:3496300-3496301	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs191840650	chr4:3496301-3496302	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs544895045	chr4:3496309-3496310	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs560908697	chr4:3496326-3496327	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs530052775	chr4:3496328-3496329	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs571506245	chr4:3496330-3496331	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs540306272	chr4:3496349-3496350	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs560245092	chr4:3496369-3496370	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs538312774	chr4:3496374-3496375	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs183121554	chr4:3496380-3496381	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs188202186	chr4:3496381-3496382	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs200215325	chr4:3496384-3496385	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs571423053	chr4:3496393-3496394	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs199673032	chr4:3496395-3496396	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs67895043	chr4:3496399-3496400	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs550866674	chr4:3496405-3496406	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs567241267	chr4:3496406-3496407	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs113523675	chr4:3496416-3496417	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs369773117	chr4:3496435-3496436	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs536230736	chr4:3496436-3496437	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs367764171	chr4:3496452-3496453	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs553089396	chr4:3496463-3496464	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs35803405	chr4:3496480-3496481	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs11941267	chr4:3496496-3496497	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs573291218	chr4:3496503-3496504	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs539222858	chr4:3496511-3496512	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs558841218	chr4:3496512-3496513	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs575806466	chr4:3496518-3496519	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs77336753	chr4:3496527-3496528	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs190108145	chr4:3496555-3496556	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs4402983	chr4:3496558-3496559	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs574474551	chr4:3496588-3496589	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1580 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3487200-3506800	Weak transcription	Psoas Muscle	Psoas
2	chr4:3487400-3497000	Weak transcription	Pancreas	Pancrea
3	chr4:3487400-3497800	Weak transcription	Right Atrium	heart
4	chr4:3487800-3501800	Weak transcription	Gastric	stomach
5	chr4:3488600-3507600	Weak transcription	Primary B cells from cord blood	blood
6	chr4:3489400-3496200	Weak transcription	Left Ventricle	heart
7	chr4:3489800-3506800	Weak transcription	Brain Angular Gyrus	brain
8	chr4:3491000-3510200	Weak transcription	HMEC	breast
9	chr4:3492200-3496400	Strong transcription	Primary B cells from peripheral blood	blood
10	chr4:3492800-3497400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:3493400-3496200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:3493400-3496600	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr4:3493400-3497200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:3493400-3498200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr4:3493600-3496800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:3493800-3496800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:3494200-3496400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:3494200-3533200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr4:3494800-3497000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:3494800-3509000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:3495000-3497000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr4:3495000-3497000	Enhancers	Fetal Intestine Small	intestine
23	chr4:3495000-3497600	Enhancers	Fetal Intestine Large	intestine
24	chr4:3495200-3497000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr4:3495200-3501600	Enhancers	Fetal Heart	heart
26	chr4:3495400-3496200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
27	chr4:3495400-3496600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
28	chr4:3495400-3496600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr4:3495400-3496600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr4:3495400-3496600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
31	chr4:3495400-3497200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:3495400-3498200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:3495600-3496200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:3495600-3496400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
35	chr4:3495600-3496400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
36	chr4:3495600-3496800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
37	chr4:3495600-3502000	Weak transcription	Aorta	Aorta
38	chr4:3495600-3504600	Weak transcription	HSMMtube	muscle
39	chr4:3495600-3507400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr4:3495800-3496200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
41	chr4:3495800-3496200	Flanking Bivalent TSS/Enh	HepG2	liver
42	chr4:3495800-3496600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:3495800-3496800	Bivalent Enhancer	Fetal Stomach	stomach
44	chr4:3495800-3496800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr4:3495800-3496800	Enhancers	HSMM	muscle
46	chr4:3495800-3499200	Genic enhancers	Right Ventricle	heart
47	chr4:3496000-3496200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
48	chr4:3496000-3496600	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr4:3496000-3496600	Enhancers	NH-A	brain
50	chr4:3496000-3496800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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