Variant report

Variant	nsv1008394
Chromosome Location	chr4:3462618-3577017
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2758)
CpG islands
(count:9840)
Chromatin interactive
region (count:148)
LncRNA
region (count:22)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2758 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr4:3482298-3482759	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr4:3482260-3482611	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr4:3534190-3534376	K562	blood:	n/a	chr4:3534199-3534208
4	BACH1	chr4:3534341-3534527	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr4:3496152-3496215	K562	blood:	n/a	n/a
6	BACH1	chr4:3482323-3482523	K562	blood:	n/a	n/a
7	BACH1	chr4:3482512-3482601	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr4:3491237-3491472	GM12878	blood:	n/a	n/a
9	BCL11A	chr4:3538736-3538904	GM12878	blood:	n/a	n/a
10	BCL11A	chr4:3510967-3511421	GM12878	blood:	n/a	n/a
11	BCL11A	chr4:3570059-3570293	GM12878	blood:	n/a	n/a
12	BCL3	chr4:3469865-3471115	GM12878	blood:	n/a	n/a
13	BCL3	chr4:3469863-3470991	GM12878	blood:	n/a	n/a
14	BCL3	chr4:3512243-3512645	GM12878	blood:	n/a	n/a
15	BCL3	chr4:3565347-3565556	GM12878	blood:	n/a	n/a
16	BCL3	chr4:3512247-3512618	GM12878	blood:	n/a	n/a
17	BCL3	chr4:3469218-3469567	GM12878	blood:	n/a	n/a
18	BCL3	chr4:3469104-3469626	GM12878	blood:	n/a	n/a
19	BCL3	chr4:3475144-3475461	GM12878	blood:	n/a	n/a
20	BCL3	chr4:3508714-3509066	GM12878	blood:	n/a	n/a
21	BCL3	chr4:3475204-3475428	GM12878	blood:	n/a	n/a
22	BHLHE40	chr4:3482321-3482582	HepG2	liver:	n/a	n/a
23	BHLHE40	chr4:3558900-3559131	HepG2	liver:	n/a	n/a
24	BHLHE40	chr4:3479250-3479561	HepG2	liver:	n/a	chr4:3479409-3479418 chr4:3479409-3479418 chr4:3479408-3479417 chr4:3479403-3479424
25	BHLHE40	chr4:3480551-3480684	K562	blood:	n/a	n/a
26	BHLHE40	chr4:3533592-3533765	HepG2	liver:	n/a	n/a
27	BHLHE40	chr4:3531217-3531410	GM12878	blood:	n/a	n/a
28	BHLHE40	chr4:3469254-3469426	K562	blood:	n/a	n/a
29	BHLHE40	chr4:3561241-3561607	HepG2	liver:	n/a	n/a
30	BHLHE40	chr4:3478312-3478492	HepG2	liver:	n/a	n/a
31	BHLHE40	chr4:3501057-3501246	K562	blood:	n/a	n/a
32	BHLHE40	chr4:3533345-3533603	GM12878	blood:	n/a	n/a
33	BHLHE40	chr4:3479316-3479464	K562	blood:	n/a	chr4:3479409-3479418 chr4:3479409-3479418 chr4:3479408-3479417 chr4:3479403-3479424
34	BHLHE40	chr4:3558966-3559121	K562	blood:	n/a	n/a
35	BHLHE40	chr4:3533473-3534097	K562	blood:	n/a	n/a
36	BHLHE40	chr4:3534103-3534388	GM12878	blood:	n/a	chr4:3534255-3534271
37	BHLHE40	chr4:3576432-3576518	K562	blood:	n/a	n/a
38	BHLHE40	chr4:3491263-3491395	GM12878	blood:	n/a	n/a
39	BHLHE40	chr4:3534312-3534557	K562	blood:	n/a	n/a
40	BHLHE40	chr4:3472328-3472516	K562	blood:	n/a	n/a
41	BHLHE40	chr4:3565199-3565519	K562	blood:	n/a	n/a
42	BHLHE40	chr4:3472381-3472564	HepG2	liver:	n/a	n/a
43	BHLHE40	chr4:3482294-3482545	K562	blood:	n/a	n/a
44	BHLHE40	chr4:3486390-3486566	GM12878	blood:	n/a	n/a
45	BHLHE40	chr4:3496279-3496546	HepG2	liver:	n/a	chr4:3496388-3496404
46	BHLHE40	chr4:3471344-3471419	HepG2	liver:	n/a	n/a
47	BHLHE40	chr4:3526656-3526687	K562	blood:	n/a	n/a
48	BHLHE40	chr4:3482383-3482568	GM12878	blood:	n/a	n/a
49	BHLHE40	chr4:3486975-3487201	GM12878	blood:	n/a	n/a
50	BRCA1	chr4:3534268-3534443	H1-hESC	embryonic stem cell:	n/a	n/a

(count:9840 , 50 per page) page: 1 2 3 4 5 6 7 ... 197

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:3568034-3568084	GM12878	blood:	n/a
2	chr4:3522186-3522236	GM12891	blood:	n/a
3	chr4:3465064-3465114	ProgFib	skin:	n/a
4	chr4:3535009-3535059	HRPEpiC	eye:	n/a
5	chr4:3565893-3565943	NB4	blood:	n/a
6	chr4:3571919-3571969	SK-N-SH	brain:	n/a
7	chr4:3487334-3487384	Caco-2	colon:	n/a
8	chr4:3517885-3517935	SAEC	small airway:	n/a
9	chr4:3534270-3534320	HEEpiC	esophagus:	n/a
10	chr4:3475262-3475312	MCF-7	breast:	n/a
11	chr4:3567533-3567583	ovcar-3	ovarian:	n/a
12	chr4:3535009-3535059	MCF-7	breast:	n/a
13	chr4:3510935-3510985	ECC-1	luminal epithelium:	n/a
14	chr4:3520691-3520741	AG09319	gingival:	n/a
15	chr4:3526676-3526726	SK-N-MC	brain:	n/a
16	chr4:3484049-3484099	SK-N-SH_RA	brain:	n/a
17	chr4:3469040-3469090	BE2_C	brain:	n/a
18	chr4:3571919-3571969	GM12891	blood:	n/a
19	chr4:3521533-3521583	AG09319	gingival:	n/a
20	chr4:3568034-3568084	GM12878	blood:	n/a
21	chr4:3522186-3522236	GM12891	blood:	n/a
22	chr4:3465064-3465114	ProgFib	skin:	n/a
23	chr4:3535009-3535059	HRPEpiC	eye:	n/a
24	chr4:3565893-3565943	NB4	blood:	n/a
25	chr4:3571919-3571969	SK-N-SH	brain:	n/a
26	chr4:3487334-3487384	Caco-2	colon:	n/a
27	chr4:3517885-3517935	SAEC	small airway:	n/a
28	chr4:3534270-3534320	HEEpiC	esophagus:	n/a
29	chr4:3475262-3475312	MCF-7	breast:	n/a
30	chr4:3567533-3567583	ovcar-3	ovarian:	n/a
31	chr4:3535009-3535059	MCF-7	breast:	n/a
32	chr4:3510935-3510985	ECC-1	luminal epithelium:	n/a
33	chr4:3520691-3520741	AG09319	gingival:	n/a
34	chr4:3526676-3526726	SK-N-MC	brain:	n/a
35	chr4:3484049-3484099	SK-N-SH_RA	brain:	n/a
36	chr4:3469040-3469090	BE2_C	brain:	n/a
37	chr4:3571919-3571969	GM12891	blood:	n/a
38	chr4:3521533-3521583	AG09319	gingival:	n/a
39	chr4:3486116-3486166	AG09319	gingival:	n/a
40	chr4:3480318-3480368	GM12892	blood:	n/a
41	chr4:3480656-3480706	A549	lung:	n/a
42	chr4:3528295-3528345	NH-A	brain:	n/a
43	chr4:3567958-3568008	BJ	skin:	n/a
44	chr4:3487334-3487384	K562	blood:	n/a
45	chr4:3478209-3478259	GM06990	blood:	n/a
46	chr4:3500688-3500738	GM12892	blood:	n/a
47	chr4:3484049-3484099	HCT-116	colon:	n/a
48	chr4:3517885-3517935	SK-N-SH_RA	brain:	n/a
49	chr4:3565893-3565943	MCF10A-Er-Src	breast:	n/a
50	chr4:3513528-3513578	HEK293	kidney:	embryo

(count:148 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr4:3510937..3515014-chr4:3516232..3518193,3	K562	blood:
2	chr4:3471602..3475518-chr4:3476351..3479966,4	K562	blood:
3	chr4:3526212..3528874-chr4:3529916..3531875,2	MCF-7	breast:
4	chr21:44846547..44847350-chr4:3533615..3534228,2	Hela-S3	cervix:
5	chr4:3483725..3485778-chr4:3827881..3829780,2	MCF-7	breast:
6	chr4:3500336..3503326-chr4:3533188..3535879,5	MCF-7	breast:
7	chr4:3495965..3498998-chr4:3502013..3504996,4	K562	blood:
8	chr4:3516564..3519822-chr4:3521615..3524887,4	K562	blood:
9	chr4:3076153..3077682-chr4:3463023..3464527,2	MCF-7	breast:
10	chr4:3502958..3505472-chr4:3506122..3508605,2	K562	blood:
11	chr4:3483903..3486449-chr4:3531389..3533464,2	MCF-7	breast:
12	chr4:3498309..3502581-chr4:3507036..3510283,5	MCF-7	breast:
13	chr4:3346041..3348825-chr4:3461682..3464499,2	MCF-7	breast:
14	chr4:3464629..3465770-chr4:3486550..3487347,4	MCF-7	breast:
15	chr4:3526212..3528874-chr4:3529916..3531875,2	MCF-7	breast:
16	chr4:3500639..3503471-chr4:3531403..3534143,3	K562	blood:
17	chr4:3484197..3487656-chr4:3491883..3496058,4	K562	blood:
18	chr4:3493092..3495587-chr4:3516926..3518473,2	K562	blood:
19	chr4:3445342..3446316-chr4:3482040..3482882,2	K562	blood:
20	chr4:3485927..3488368-chr4:3533732..3536345,3	MCF-7	breast:
21	chr4:3533711..3534459-chr4:37827885..37828819,2	NB4	blood:
22	chr4:3557568..3561232-chr4:3567417..3570129,3	K562	blood:
23	chr4:3521183..3522929-chr4:3528082..3530849,2	MCF-7	breast:
24	chr11:3078361..3079999-chr4:3467036..3469656,2	MCF-7	breast:
25	chr4:3113077..3115750-chr4:3467353..3469747,2	MCF-7	breast:
26	chr4:3082342..3084920-chr4:3490322..3492500,2	K562	blood:
27	chr4:3347603..3348412-chr4:3481940..3482894,2	MCF-7	breast:
28	chr4:3478548..3481215-chr4:3487290..3489311,2	K562	blood:
29	chr4:3465519..3467686-chr4:3526203..3530625,4	MCF-7	breast:
30	chr17:8076317..8077036-chr4:3533772..3534554,2	Hela-S3	cervix:
31	chr4:3495965..3498998-chr4:3502013..3504996,4	K562	blood:
32	chr4:3497012..3500128-chr4:3532348..3534141,3	K562	blood:
33	chr4:3518640..3520994-chr4:3527173..3529656,3	MCF-7	breast:
34	chr4:3510589..3512915-chr4:3532511..3535420,4	K562	blood:
35	chr4:3523660..3526641-chr4:3772288..3775138,2	K562	blood:
36	chr4:3487684..3490277-chr4:3491908..3495748,6	K562	blood:
37	chr4:3496237..3498612-chr4:3527624..3529896,2	K562	blood:
38	chr4:3464468..3466347-chr4:3532849..3534407,2	MCF-7	breast:
39	chr4:3294365..3296058-chr4:3468605..3470363,2	MCF-7	breast:
40	chr4:3516783..3519822-chr4:3520546..3524887,6	K562	blood:
41	chr4:3505996..3508502-chr4:3532623..3535240,2	MCF-7	breast:
42	chr4:3499074..3501837-chr4:3515567..3517558,2	K562	blood:
43	chr4:3512565..3514600-chr4:3532561..3535392,2	K562	blood:
44	chr4:3496124..3499190-chr4:3513529..3517461,3	MCF-7	breast:
45	chr4:3481517..3483185-chr4:3946552..3949445,2	MCF-7	breast:
46	chr4:3484276..3486536-chr4:3514964..3516721,2	MCF-7	breast:
47	chr4:3507434..3509576-chr4:3524898..3527608,2	K562	blood:
48	chr4:3495267..3497538-chr4:3499931..3501588,2	K562	blood:
49	chr4:3488541..3491242-chr4:3495615..3498535,2	K562	blood:
50	chr4:3499074..3501837-chr4:3515567..3517558,2	K562	blood:

(count:22 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP3-368B9.1.1-6	chr4:3561789-3562236	ucscGeneNc_uc003ghk_1
2	lnc-RP3-368B9.1.1-6	chr4:3559576-3559712	ucscGeneNc_uc003ghk_1
3	lnc-RP3-368B9.1.1-2	chr4:3546615-3546650	XLOC_003427
4	lnc-RP3-368B9.1.1-2	chr4:3547897-3548077	XLOC_003427
5	lnc-RP3-368B9.1.1-2	chr4:3547241-3547393	XLOC_003427
6	lnc-RP3-368B9.1.1-6	chr4:3560459-3560539	ucscGeneNc_uc003ghk_1
7	lnc-RP3-368B9.1.1-2	chr4:3547896-3548077	NONHSAT094884
8	lnc-RP3-368B9.1.1-2	chr4:3546822-3546956	XLOC_003427
9	lnc-RP3-368B9.1.1-6	chr4:3548394-3548648	ucscGeneNc_uc003ghk_1
10	lnc-RP3-368B9.1.1-2	chr4:3550187-3550309	NONHSAT094884
11	lnc-LRPAP1-4	chr4:3480710-3483420	ucscGeneNc_uc003ghh_2
12	lnc-RP3-368B9.1.1-2	chr4:3546822-3546956	ENSG00000270090.1
13	lnc-RP3-368B9.1.1-2	chr4:3547897-3548075	XLOC_003427
14	lnc-RP3-368B9.1.1-2	chr4:3546822-3546956	XLOC_003427
15	lnc-RP3-368B9.1.1-2	chr4:3550188-3550309	XLOC_003427
16	lnc-RP3-368B9.1.1-2	chr4:3550401-3550523	NONHSAT094884
17	lnc-RP3-368B9.1.1-2	chr4:3550402-3550523	XLOC_003427
18	lnc-RP3-368B9.1.1-2	chr4:3546453-3546650	XLOC_003427
19	lnc-RP3-368B9.1.1-2	chr4:3546666-3547063	XLOC_003427
20	lnc-RP3-368B9.1.1-2	chr4:3550188-3550315	ENSG00000270090.1
21	lnc-RP3-368B9.1.1-2	chr4:3546433-3547467	NONHSAT094884
22	lnc-RP3-368B9.1.1-2	chr4:3546282-3546650	ENSG00000270090.1

No data

Variant related genes	Relation type
LRPAP1	TF binding region
DOK7	TF binding region
ENSG00000268781	TF binding region
ENSG00000270090	TF binding region
LINC00955	TF binding region
ENSG00000261643	TF binding region
LRPAP1	CpG island
DOK7	CpG island
ENSG00000268781	CpG island
ENSG00000270090	CpG island
LINC00955	CpG island
ENSG00000261643	CpG island
ENSG00000268781	chromatin interactions
ENSG00000159788	chromatin interactions
ENSG00000175920	chromatin interactions
ENSG00000216560	chromatin interactions
ENSG00000251075	chromatin interactions
ENSG00000253917	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000197386	chromatin interactions
ENSG00000109758	chromatin interactions
ENSG00000110619	chromatin interactions
ENSG00000142178	chromatin interactions
ENSG00000270090	chromatin interactions
ENSG00000261643	chromatin interactions
ENSG00000251669	chromatin interactions
ENSG00000169299	chromatin interactions
ENSG00000200463	chromatin interactions
ENSG00000163956	chromatin interactions
ENSG00000184160	chromatin interactions
ENSG00000161847	chromatin interactions
TGFBI	miRNA target sites
TGFA	miRNA target sites
TGFB2	miRNA target sites

Extended variants
information (count: 7062 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:7062 , 50 per page) page: 1 2 3 4 5 6 7 ... 142

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538204063	chr4:3462637-3462638	ZNF genes & repeats Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs558130089	chr4:3462664-3462665	ZNF genes & repeats Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs562838581	chr4:3462674-3462675	ZNF genes & repeats Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs529260361	chr4:3462789-3462790	ZNF genes & repeats Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs551006960	chr4:3462842-3462843	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs373162187	chr4:3462916-3462917	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs574963821	chr4:3462923-3462924	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs185182042	chr4:3462940-3462941	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs190077876	chr4:3462954-3462955	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs530041167	chr4:3462974-3462975	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs181426108	chr4:3463032-3463033	Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs552558907	chr4:3463086-3463087	Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs562893891	chr4:3463142-3463143	Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs531806476	chr4:3463168-3463169	Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs548420962	chr4:3463182-3463183	Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs567450584	chr4:3463215-3463216	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs141491753	chr4:3463221-3463222	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs546783080	chr4:3463225-3463226	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs566380127	chr4:3463260-3463261	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs538566006	chr4:3463299-3463300	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs558093316	chr4:3463303-3463304	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs574930261	chr4:3463332-3463333	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs73079075	chr4:3463400-3463401	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs554416807	chr4:3463430-3463431	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs1203104	chr4:3463452-3463453	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs540431247	chr4:3463465-3463466	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs371641822	chr4:3463471-3463472	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs577585494	chr4:3463476-3463477	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs28478452	chr4:3463477-3463478	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs562847500	chr4:3463512-3463513	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs372360437	chr4:3463517-3463518	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs112154913	chr4:3463521-3463522	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs542300081	chr4:3463522-3463523	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs561999793	chr4:3463546-3463547	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs28413474	chr4:3463603-3463604	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs546446627	chr4:3463605-3463606	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs566343389	chr4:3463631-3463632	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs532257387	chr4:3463632-3463633	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs138728321	chr4:3463637-3463638	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs568512320	chr4:3463645-3463646	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs188257066	chr4:3463646-3463647	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs12649183	chr4:3463658-3463659	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs554562505	chr4:3463691-3463692	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs180776282	chr4:3463711-3463712	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs533910965	chr4:3463715-3463716	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs554373228	chr4:3463716-3463717	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs7667834	chr4:3463727-3463728	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs537071798	chr4:3463746-3463747	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs546515357	chr4:3463778-3463779	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs556936614	chr4:3463794-3463795	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2714 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3461000-3463000	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr4:3462000-3462800	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr4:3462000-3463800	Enhancers	HSMMtube	muscle
4	chr4:3462000-3464000	Enhancers	Fetal Muscle Leg	muscle
5	chr4:3462400-3463600	Enhancers	HSMM	muscle
6	chr4:3462400-3463800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr4:3462400-3464800	Enhancers	Pancreas	Pancrea
8	chr4:3462600-3463200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:3462600-3464000	Enhancers	Stomach Mucosa	stomach
10	chr4:3462600-3464200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:3462600-3464200	Enhancers	Stomach Smooth Muscle	stomach
12	chr4:3462600-3464600	Enhancers	Gastric	stomach
13	chr4:3462600-3464600	Enhancers	Right Ventricle	heart
14	chr4:3462600-3464800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:3462600-3464800	Enhancers	Fetal Heart	heart
16	chr4:3462600-3464800	Enhancers	Left Ventricle	heart
17	chr4:3462600-3465000	Enhancers	HMEC	breast
18	chr4:3462600-3465800	Enhancers	Liver	Liver
19	chr4:3462800-3463000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:3462800-3463000	Enhancers	Hela-S3	cervix
21	chr4:3462800-3463200	Bivalent Enhancer	NHEK	skin
22	chr4:3462800-3463400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:3462800-3463800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr4:3462800-3463800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
25	chr4:3462800-3463800	Enhancers	Aorta	Aorta
26	chr4:3462800-3463800	Enhancers	Esophagus	oesophagus
27	chr4:3462800-3464400	Enhancers	Lung	lung
28	chr4:3462800-3464800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr4:3463000-3463200	Bivalent/Poised TSS	HepG2	liver
30	chr4:3463000-3463400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:3463000-3463400	Flanking Active TSS	Hela-S3	cervix
32	chr4:3463000-3464000	Enhancers	Duodenum Mucosa	Duodenum
33	chr4:3463000-3464000	Enhancers	Psoas Muscle	Psoas
34	chr4:3463000-3464800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:3463000-3464800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr4:3463200-3463400	Flanking Bivalent TSS/Enh	HepG2	liver
37	chr4:3463200-3463400	Flanking Bivalent TSS/Enh	NHEK	skin
38	chr4:3463200-3463600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:3463200-3464200	Bivalent Enhancer	Colonic Mucosa	Colon
40	chr4:3463200-3464200	Enhancers	GM12878-XiMat	blood
41	chr4:3463200-3465600	Bivalent Enhancer	Placenta	Placenta
42	chr4:3463400-3463600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:3463400-3463600	Bivalent Enhancer	Fetal Stomach	stomach
44	chr4:3463400-3463800	Enhancers	Fetal Brain Male	brain
45	chr4:3463400-3463800	Bivalent Enhancer	HepG2	liver
46	chr4:3463400-3464200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:3463400-3464800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
48	chr4:3463400-3464800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr4:3463400-3465000	Enhancers	Hela-S3	cervix
50	chr4:3463400-3465000	Bivalent Enhancer	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links