Variant report

Variant	nsv461166
Chromosome Location	chr4:3405165-3451109
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1135)
CpG islands
(count:5010)
Chromatin interactive
region (count:79)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1135 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:3445241-3445522	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:3409293-3410412	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:3443453-3443675	HepG2	liver:	n/a	n/a
4	ATF3	chr4:3445269-3445466	K562	blood:	n/a	n/a
5	BHLHE40	chr4:3445224-3445543	K562	blood:	n/a	chr4:3445365-3445381
6	BHLHE40	chr4:3434585-3434667	K562	blood:	n/a	n/a
7	BHLHE40	chr4:3415199-3415389	GM12878	blood:	n/a	n/a
8	BHLHE40	chr4:3410632-3410659	HepG2	liver:	n/a	n/a
9	BHLHE40	chr4:3445170-3445557	HepG2	liver:	n/a	chr4:3445365-3445381
10	BHLHE40	chr4:3445191-3445500	GM12878	blood:	n/a	chr4:3445365-3445381
11	BHLHE40	chr4:3409636-3410319	HepG2	liver:	n/a	chr4:3409818-3409839
12	BRCA1	chr4:3445279-3445522	HepG2	liver:	n/a	n/a
13	CCNT2	chr4:3445350-3445426	K562	blood:	n/a	n/a
14	CEBPB	chr4:3423122-3423211	K562	blood:	n/a	n/a
15	CEBPB	chr4:3409836-3410138	HepG2	liver:	n/a	chr4:3410056-3410069 chr4:3410055-3410072 chr4:3410057-3410068 chr4:3410056-3410067
16	CEBPB	chr4:3422748-3422907	A549	lung:	n/a	n/a
17	CEBPB	chr4:3409985-3410173	K562	blood:	n/a	chr4:3410056-3410069 chr4:3410055-3410072 chr4:3410057-3410068 chr4:3410056-3410067
18	CEBPB	chr4:3422619-3422819	HepG2	liver:	n/a	n/a
19	CEBPB	chr4:3445210-3445549	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr4:3422746-3422943	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr4:3410676-3410775	HepG2	liver:	n/a	n/a
22	CEBPB	chr4:3409746-3410249	HepG2	liver:	n/a	chr4:3410056-3410069 chr4:3410055-3410072 chr4:3410057-3410068 chr4:3410056-3410067
23	CEBPB	chr4:3409664-3410147	HepG2	liver:	n/a	chr4:3410056-3410069 chr4:3410055-3410072 chr4:3410057-3410068 chr4:3410056-3410067
24	CEBPB	chr4:3409743-3410259	HepG2	liver:	n/a	chr4:3410056-3410069 chr4:3410055-3410072 chr4:3410057-3410068 chr4:3410056-3410067
25	CEBPB	chr4:3438739-3439132	Hela-S3	cervix:	n/a	n/a
26	CEBPD	chr4:3445106-3445439	HepG2	liver:	n/a	n/a
27	CEBPD	chr4:3409703-3410152	HepG2	liver:	n/a	n/a
28	CEBPD	chr4:3443344-3444000	HepG2	liver:	n/a	n/a
29	CHD2	chr4:3444625-3444775	HepG2	liver:	n/a	n/a
30	CHD2	chr4:3420214-3420227	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr4:3442759-3442777	HepG2	liver:	n/a	n/a
32	CHD2	chr4:3409848-3410152	HepG2	liver:	n/a	n/a
33	CHD2	chr4:3445341-3445531	HepG2	liver:	n/a	n/a
34	CHD2	chr4:3443379-3443859	HepG2	liver:	n/a	chr4:3443687-3443697
35	CHD2	chr4:3438403-3438499	Hela-S3	cervix:	n/a	n/a
36	CHD2	chr4:3438705-3439109	Hela-S3	cervix:	n/a	n/a
37	CHD2	chr4:3444229-3444230	HepG2	liver:	n/a	n/a
38	CHD2	chr4:3410628-3410781	HepG2	liver:	n/a	n/a
39	CHD2	chr4:3445219-3445398	Hela-S3	cervix:	n/a	n/a
40	CREB1	chr4:3409663-3410340	HepG2	liver:	n/a	n/a
41	CREB1	chr4:3445232-3445485	A549	lung:	n/a	n/a
42	CTCF	chr4:3442727-3442795	NHEK	skin:	n/a	n/a
43	CTCF	chr4:3411560-3411710	HepG2	liver:	n/a	n/a
44	CTCF	chr4:3420260-3420410	GM12866	blood:	n/a	n/a
45	CTCF	chr4:3420320-3420470	SAEC	small airway:	n/a	n/a
46	CTCF	chr4:3445240-3445390	MCF-7	breast:	n/a	chr4:3445365-3445381 chr4:3445364-3445382 chr4:3445367-3445377 chr4:3445370-3445379 chr4:3445366-3445379 chr4:3445366-3445379
47	CTCF	chr4:3406429-3406480	K562	blood:	n/a	n/a
48	CTCF	chr4:3445046-3445552	H1-hESC	embryonic stem cell:	n/a	chr4:3445365-3445381 chr4:3445364-3445382 chr4:3445175-3445188 chr4:3445367-3445377 chr4:3445370-3445379 chr4:3445366-3445379 chr4:3445366-3445379
49	CTCF	chr4:3446960-3447110	K562	blood:	n/a	n/a
50	CTCF	chr4:3436660-3436810	GM12872	blood:	n/a	n/a

(count:5010 , 50 per page) page: 1 2 3 4 5 6 7 ... 101

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:3431864-3431914	HCT-116	colon:	n/a
2	chr4:3443625-3443675	H1-hESC	embryonic stem cell:	embryo
3	chr4:3415930-3415980	SAEC	small airway:	n/a
4	chr4:3436168-3436218	SAEC	small airway:	n/a
5	chr4:3433526-3433576	HIPEpiC	eye:	n/a
6	chr4:3442962-3443012	SAEC	small airway:	n/a
7	chr4:3442962-3443012	HL-60	blood:	n/a
8	chr4:3417677-3417727	Jurkat	blood:	n/a
9	chr4:3431864-3431914	HCT-116	colon:	n/a
10	chr4:3443625-3443675	H1-hESC	embryonic stem cell:	embryo
11	chr4:3415930-3415980	SAEC	small airway:	n/a
12	chr4:3436168-3436218	SAEC	small airway:	n/a
13	chr4:3433526-3433576	HIPEpiC	eye:	n/a
14	chr4:3442962-3443012	SAEC	small airway:	n/a
15	chr4:3442962-3443012	HL-60	blood:	n/a
16	chr4:3417677-3417727	Jurkat	blood:	n/a
17	chr4:3446405-3446455	U87	brain:	n/a
18	chr4:3426363-3426413	MCF-7	breast:	n/a
19	chr4:3433109-3433159	GM06990	blood:	n/a
20	chr4:3435449-3435499	HRE	kidney:	n/a
21	chr4:3432483-3432533	PrEC	prostate:	n/a
22	chr4:3447796-3447846	BJ	skin:	n/a
23	chr4:3412961-3413011	LNCaP	prostate:	n/a
24	chr4:3418564-3418614	ProgFib	skin:	n/a
25	chr4:3443025-3443075	HCT-116	colon:	n/a
26	chr4:3443683-3443733	HPAEpiC	pulmonary alveolar:	n/a
27	chr4:3412961-3413011	ECC-1	luminal epithelium:	n/a
28	chr4:3435449-3435499	GM12892	blood:	n/a
29	chr4:3451104-3451154	ProgFib	skin:	n/a
30	chr4:3415930-3415980	ECC-1	luminal epithelium:	n/a
31	chr4:3447665-3447715	H1-hESC	embryonic stem cell:	embryo
32	chr4:3443608-3443658	BJ	skin:	n/a
33	chr4:3424470-3424520	CMK	blood:	n/a
34	chr4:3450770-3450820	NB4	blood:	n/a
35	chr4:3418911-3418961	MCF-7	breast:	n/a
36	chr4:3409324-3409374	HCT-116	colon:	n/a
37	chr4:3409017-3409067	H1-hESC	embryonic stem cell:	embryo
38	chr4:3449370-3449420	HCPEpiC	choroid plexus:	n/a
39	chr4:3447935-3447985	HEK293	kidney:	embryo
40	chr4:3425256-3425306	MCF-7	breast:	n/a
41	chr4:3414302-3414352	HUVEC	blood vessel:	n/a
42	chr4:3413706-3413756	PrEC	prostate:	n/a
43	chr4:3432342-3432392	HCPEpiC	choroid plexus:	n/a
44	chr4:3418911-3418961	ECC-1	luminal epithelium:	n/a
45	chr4:3424470-3424520	HCF	heart:	n/a
46	chr4:3442311-3442361	AG10803	skin:	n/a
47	chr4:3451104-3451154	PrEC	prostate:	n/a
48	chr4:3446946-3446996	AG10803	skin:	n/a
49	chr4:3443625-3443675	AG04449	skin:	fetal
50	chr4:3436168-3436218	SK-N-SH	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr4:3430343..3432771-chr4:3437903..3441095,3	K562	blood:
2	chr4:3403449..3406245-chr4:3407590..3409383,2	K562	blood:
3	chr4:3404717..3407147-chr4:3410675..3413759,3	MCF-7	breast:
4	chr4:3428384..3430154-chr4:3434283..3437033,2	K562	blood:
5	chr4:3402341..3405091-chr4:3416697..3418981,2	MCF-7	breast:
6	chr4:3438822..3441284-chr4:3443467..3446994,3	K562	blood:
7	chr4:3293753..3295526-chr4:3439987..3441578,2	MCF-7	breast:
8	chr4:3403927..3406519-chr4:3415775..3417384,2	MCF-7	breast:
9	chr4:3297878..3299647-chr4:3439847..3442316,2	MCF-7	breast:
10	chr4:3406805..3408951-chr4:3410339..3412691,4	K562	blood:
11	chr4:3387900..3390200-chr4:3439176..3442077,2	MCF-7	breast:
12	chr4:3403927..3406519-chr4:3415775..3417384,2	MCF-7	breast:
13	chr4:3347550..3348452-chr4:3441019..3441869,2	K562	blood:
14	chr4:3418569..3420412-chr4:3484561..3487471,2	MCF-7	breast:
15	chr4:3406020..3409060-chr4:3409892..3412921,3	MCF-7	breast:
16	chr4:3437849..3440325-chr4:3440402..3441941,2	MCF-7	breast:
17	chr4:3406020..3409060-chr4:3409892..3412921,3	MCF-7	breast:
18	chr4:3407565..3409961-chr4:3422127..3423905,2	K562	blood:
19	chr4:3347569..3348482-chr4:3444950..3445609,2	MCF-7	breast:
20	chr4:3401369..3402190-chr4:3444884..3445429,2	K562	blood:
21	chr4:3402342..3405692-chr4:3412930..3417248,3	K562	blood:
22	chr4:3442877..3445560-chr4:3447912..3450981,3	MCF-7	breast:
23	chr4:3437849..3440325-chr4:3440402..3441941,2	MCF-7	breast:
24	chr4:3406805..3408629-chr4:3410339..3412435,2	K562	blood:
25	chr4:3438145..3440558-chr4:3486054..3488354,2	MCF-7	breast:
26	chr4:3444953..3445626-chr4:3481708..3482572,4	MCF-7	breast:
27	chr4:3401381..3402237-chr4:3444863..3445577,2	MCF-7	breast:
28	chr4:3433662..3435560-chr4:3437260..3439057,2	MCF-7	breast:
29	chr4:3321370..3323027-chr4:3448401..3450005,2	MCF-7	breast:
30	chr4:3340754..3343218-chr4:3436055..3438880,2	MCF-7	breast:
31	chr4:3347496..3348411-chr4:3444927..3445862,6	K562	blood:
32	chr4:3432116..3434989-chr4:3463177..3465142,2	MCF-7	breast:
33	chr4:3438642..3440686-chr4:3450024..3452220,2	MCF-7	breast:
34	chr4:3365147..3366815-chr4:3405868..3408460,2	MCF-7	breast:
35	chr4:3422645..3425998-chr4:3426569..3431321,4	K562	blood:
36	chr17:62399380..62400330-chr4:3422309..3422930,2	MCF-7	breast:
37	chr4:3428890..3430804-chr4:3441748..3443973,2	MCF-7	breast:
38	chr4:3351060..3353090-chr4:3436592..3439411,2	MCF-7	breast:
39	chr4:3406805..3408629-chr4:3410339..3412435,2	K562	blood:
40	chr4:3388642..3391528-chr4:3405332..3407484,2	MCF-7	breast:
41	chr4:3437523..3439091-chr4:3448156..3450987,2	MCF-7	breast:
42	chr4:3405937..3408041-chr4:3418857..3421109,2	MCF-7	breast:
43	chr4:3438758..3441335-chr4:3441966..3444505,4	MCF-7	breast:
44	chr4:3391529..3394240-chr4:3404646..3406512,2	K562	blood:
45	chr4:3401278..3402259-chr4:3444676..3445847,3	MCF-7	breast:
46	chr4:3422645..3425998-chr4:3426569..3431321,4	K562	blood:
47	chr4:3195267..3196266-chr4:3444903..3445887,5	MCF-7	breast:
48	chr4:3438642..3440686-chr4:3450024..3452220,2	MCF-7	breast:
49	chr4:3432863..3436671-chr4:3438111..3441622,5	K562	blood:
50	chr4:3439707..3441284-chr4:3443467..3445284,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS12-1	chr4:3441182-3441640	NONHSAT094871
2	lnc-RGS12-1	chr4:3429816-3429896	NONHSAT094871

No data

Variant related genes	Relation type
RGS12	TF binding region
HGFAC	TF binding region
RGS12	CpG island
HGFAC	CpG island
ENSG00000175920	chromatin interactions
ENSG00000109758	chromatin interactions
ENSG00000159788	chromatin interactions

Extended variants
information (count: 2530 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:2530 , 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	rs6852186	chr4:3405165-3405166	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536277385	chr4:3405200-3405201	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs184063534	chr4:3405252-3405253	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs151260329	chr4:3405290-3405291	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs572851502	chr4:3405291-3405292	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs544788434	chr4:3405322-3405323	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs77671823	chr4:3405334-3405335	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs371386259	chr4:3405407-3405408	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs534790168	chr4:3405408-3405409	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs561603533	chr4:3405414-3405415	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs530433362	chr4:3405462-3405463	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs9995777	chr4:3405475-3405476	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs140493023	chr4:3405480-3405481	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs532596421	chr4:3405483-3405484	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs73792026	chr4:3405484-3405485	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs147707042	chr4:3405511-3405512	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs6850563	chr4:3405526-3405527	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs6836970	chr4:3405550-3405551	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs187680914	chr4:3405556-3405557	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs192237539	chr4:3405557-3405558	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs567197666	chr4:3405560-3405561	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs75260424	chr4:3405571-3405572	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs371072740	chr4:3405594-3405595	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs73792028	chr4:3405667-3405668	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs13130782	chr4:3405675-3405676	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs538724734	chr4:3405700-3405701	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543151543	chr4:3405730-3405731	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184393429	chr4:3405754-3405755	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575892848	chr4:3405791-3405792	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs199820791	chr4:3405831-3405832	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs367717424	chr4:3405843-3405844	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555222452	chr4:3405853-3405854	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188833239	chr4:3405871-3405872	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576291734	chr4:3405882-3405883	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs56067324	chr4:3405890-3405891	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs540579655	chr4:3405918-3405919	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560528334	chr4:3405931-3405932	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577212308	chr4:3405998-3405999	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs377409670	chr4:3406052-3406053	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs540990221	chr4:3406077-3406078	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs562676113	chr4:3406088-3406089	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs192717300	chr4:3406105-3406106	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs73792031	chr4:3406156-3406157	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs560760381	chr4:3406177-3406178	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs529994919	chr4:3406178-3406179	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs184727213	chr4:3406214-3406215	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs189345674	chr4:3406217-3406218	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs376586581	chr4:3406242-3406243	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs369500658	chr4:3406250-3406251	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs538290342	chr4:3406262-3406263	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1167 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3390000-3417200	Weak transcription	Gastric	stomach
2	chr4:3391000-3414000	Weak transcription	Primary T cells from cord blood	blood
3	chr4:3391400-3407400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:3391400-3408800	Weak transcription	Ovary	ovary
5	chr4:3391600-3407800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:3391800-3424200	Weak transcription	Colonic Mucosa	Colon
7	chr4:3392000-3417200	Weak transcription	Pancreas	Pancrea
8	chr4:3392400-3409800	Weak transcription	Spleen	Spleen
9	chr4:3393400-3405400	Weak transcription	Brain Germinal Matrix	brain
10	chr4:3393800-3405600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:3394600-3405400	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:3395800-3406000	Weak transcription	HepG2	liver
13	chr4:3396000-3406000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr4:3398400-3405600	Weak transcription	Fetal Brain Female	brain
15	chr4:3398400-3405800	Weak transcription	Fetal Lung	lung
16	chr4:3399000-3406200	Weak transcription	Adipose Nuclei	Adipose
17	chr4:3399200-3408800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:3399200-3432200	Weak transcription	Right Atrium	heart
19	chr4:3401400-3405600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:3401600-3416200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:3401800-3406200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:3401800-3407800	Weak transcription	Liver	Liver
23	chr4:3401800-3416000	Weak transcription	Right Ventricle	heart
24	chr4:3402000-3408200	Weak transcription	Brain Anterior Caudate	brain
25	chr4:3403000-3405200	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr4:3403000-3405200	Strong transcription	HMEC	breast
27	chr4:3403000-3405800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:3403200-3405200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:3403200-3405200	Enhancers	NH-A	brain
30	chr4:3403200-3405200	Enhancers	NHDF-Ad	bronchial
31	chr4:3403200-3406000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr4:3403200-3406200	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr4:3403200-3409200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:3403400-3405200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr4:3403400-3405200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr4:3403400-3417200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr4:3403600-3405200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:3403600-3405400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr4:3403600-3405600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:3403800-3406000	Weak transcription	NHEK	skin
41	chr4:3404000-3405200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:3404000-3405200	Enhancers	NHLF	lung
43	chr4:3404000-3405400	Enhancers	HSMMtube	muscle
44	chr4:3404000-3406800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr4:3404200-3405200	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr4:3404400-3405400	Enhancers	HSMM	muscle
47	chr4:3404400-3405600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr4:3404400-3405800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:3404600-3405200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:3404600-3405200	Enhancers	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links