Variant report

Variant	esv1806490
Chromosome Location	chr4:3463724-3501161
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1244)
CpG islands
(count:3425)
Chromatin interactive
region (count:78)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1244 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

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	BACH1	chr4:3496152-3496215	K562	blood:	n/a	n/a
4	BACH1	chr4:3482512-3482601	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr4:3482323-3482523	K562	blood:	n/a	n/a
6	BATF	chr4:3491237-3491472	GM12878	blood:	n/a	n/a
7	BCL3	chr4:3469104-3469626	GM12878	blood:	n/a	n/a
8	BCL3	chr4:3469865-3471115	GM12878	blood:	n/a	n/a
9	BCL3	chr4:3475204-3475428	GM12878	blood:	n/a	n/a
10	BCL3	chr4:3469863-3470991	GM12878	blood:	n/a	n/a
11	BCL3	chr4:3475144-3475461	GM12878	blood:	n/a	n/a
12	BCL3	chr4:3469218-3469567	GM12878	blood:	n/a	n/a
13	BHLHE40	chr4:3486975-3487201	GM12878	blood:	n/a	n/a
14	BHLHE40	chr4:3471344-3471419	HepG2	liver:	n/a	n/a
15	BHLHE40	chr4:3482294-3482545	K562	blood:	n/a	n/a
16	BHLHE40	chr4:3486390-3486566	GM12878	blood:	n/a	n/a
17	BHLHE40	chr4:3480551-3480684	K562	blood:	n/a	n/a
18	BHLHE40	chr4:3496279-3496546	HepG2	liver:	n/a	chr4:3496388-3496404
19	BHLHE40	chr4:3501057-3501246	K562	blood:	n/a	n/a
20	BHLHE40	chr4:3472381-3472564	HepG2	liver:	n/a	n/a
21	BHLHE40	chr4:3482321-3482582	HepG2	liver:	n/a	n/a
22	BHLHE40	chr4:3472328-3472516	K562	blood:	n/a	n/a
23	BHLHE40	chr4:3491263-3491395	GM12878	blood:	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	chr4:3469254-3469426	K562	blood:	n/a	n/a
26	BHLHE40	chr4:3478312-3478492	HepG2	liver:	n/a	n/a
27	BHLHE40	chr4:3482383-3482568	GM12878	blood:	n/a	n/a
28	BHLHE40	chr4:3479316-3479464	K562	blood:	n/a	chr4:3479409-3479418 chr4:3479409-3479418 chr4:3479408-3479417 chr4:3479403-3479424
29	BRCA1	chr4:3482275-3482539	H1-hESC	embryonic stem cell:	n/a	n/a
30	BRCA1	chr4:3482384-3482586	Hela-S3	cervix:	n/a	n/a
31	CBX3	chr4:3482279-3482637	K562	blood:	n/a	n/a
32	CCNT2	chr4:3482381-3482557	K562	blood:	n/a	n/a
33	CCNT2	chr4:3499440-3499519	K562	blood:	n/a	n/a
34	CCNT2	chr4:3480418-3480529	K562	blood:	n/a	n/a
35	CCNT2	chr4:3499800-3499935	K562	blood:	n/a	n/a
36	CCNT2	chr4:3465851-3465998	K562	blood:	n/a	n/a
37	CEBPB	chr4:3482210-3482696	ECC-1	luminal epithelium:	n/a	n/a
38	CEBPB	chr4:3482224-3482577	IMR90	lung:	n/a	n/a
39	CEBPB	chr4:3482205-3482557	K562	blood:	n/a	n/a
40	CEBPB	chr4:3493665-3493953	IMR90	lung:	n/a	n/a
41	CEBPB	chr4:3482293-3482579	H1-hESC	embryonic stem cell:	n/a	n/a
42	CEBPB	chr4:3485772-3486821	ECC-1	luminal epithelium:	n/a	n/a
43	CEBPB	chr4:3482236-3482560	K562	blood:	n/a	n/a
44	CEBPB	chr4:3482226-3482506	MCF-7	breast:	n/a	n/a
45	CEBPB	chr4:3482295-3482572	HepG2	liver:	n/a	n/a
46	CEBPB	chr4:3482279-3482561	A549	lung:	n/a	n/a
47	CEBPB	chr4:3482254-3482576	Hela-S3	cervix:	n/a	n/a
48	CEBPD	chr4:3498169-3498383	HepG2	liver:	n/a	n/a
49	CHD1	chr4:3482157-3482731	IMR90	lung:	n/a	n/a
50	CHD2	chr4:3482842-3483195	H1-hESC	embryonic stem cell:	n/a	n/a

(count:3425 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:3472071-3472121	A549	lung:	n/a
2	chr4:3486116-3486166	HCPEpiC	choroid plexus:	n/a
3	chr4:3469040-3469090	SAEC	small airway:	n/a
4	chr4:3484049-3484099	GM12878	blood:	n/a
5	chr4:3473450-3473500	HNPCEpiC	eye:	n/a
6	chr4:3486116-3486166	BE2_C	brain:	n/a
7	chr4:3464702-3464752	PANC-1	pancreas:	n/a
8	chr4:3464887-3464937	CMK	blood:	n/a
9	chr4:3478064-3478114	Caco-2	colon:	n/a
10	chr4:3472071-3472121	A549	lung:	n/a
11	chr4:3486116-3486166	HCPEpiC	choroid plexus:	n/a
12	chr4:3469040-3469090	SAEC	small airway:	n/a
13	chr4:3484049-3484099	GM12878	blood:	n/a
14	chr4:3473450-3473500	HNPCEpiC	eye:	n/a
15	chr4:3486116-3486166	BE2_C	brain:	n/a
16	chr4:3464702-3464752	PANC-1	pancreas:	n/a
17	chr4:3464887-3464937	CMK	blood:	n/a
18	chr4:3478064-3478114	Caco-2	colon:	n/a
19	chr4:3485263-3485313	HCM	heart:	n/a
20	chr4:3464754-3464804	HL-60	blood:	n/a
21	chr4:3464874-3464924	ovcar-3	ovarian:	n/a
22	chr4:3466246-3466296	HPAEpiC	pulmonary alveolar:	n/a
23	chr4:3487164-3487214	PANC-1	pancreas:	n/a
24	chr4:3468188-3468238	AG04450	lung:	fetal
25	chr4:3486380-3486430	SKMC	muscle:	n/a
26	chr4:3478348-3478398	HRPEpiC	eye:	n/a
27	chr4:3475328-3475378	HRCEpiC	kidney:	n/a
28	chr4:3482507-3482557	Caco-2	colon:	n/a
29	chr4:3475041-3475091	PrEC	prostate:	n/a
30	chr4:3471816-3471866	HCM	heart:	n/a
31	chr4:3494582-3494632	HL-60	blood:	n/a
32	chr4:3464754-3464804	NH-A	brain:	n/a
33	chr4:3496300-3496350	GM19239	blood:	n/a
34	chr4:3499546-3499596	SK-N-SH	brain:	n/a
35	chr4:3469040-3469090	GM12878	blood:	n/a
36	chr4:3475233-3475283	HCPEpiC	choroid plexus:	n/a
37	chr4:3480590-3480640	GM12892	blood:	n/a
38	chr4:3478064-3478114	HepG2	liver:	n/a
39	chr4:3472246-3472296	K562	blood:	n/a
40	chr4:3468188-3468238	T-47D	breast:	n/a
41	chr4:3471397-3471447	MCF10A-Er-Src	breast:	n/a
42	chr4:3487334-3487384	Jurkat	blood:	n/a
43	chr4:3475233-3475283	GM12892	blood:	n/a
44	chr4:3464754-3464804	H1-hESC	embryonic stem cell:	embryo
45	chr4:3486039-3486089	Caco-2	colon:	n/a
46	chr4:3478064-3478114	MCF10A-Er-Src	breast:	n/a
47	chr4:3484049-3484099	HCT-116	colon:	n/a
48	chr4:3500688-3500738	GM19239	blood:	n/a
49	chr4:3485263-3485313	Caco-2	colon:	n/a
50	chr4:3486380-3486430	PFSK-1	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr4:3495965..3498998-chr4:3502013..3504996,4	K562	blood:
2	chr4:3484197..3487656-chr4:3491883..3496058,4	K562	blood:
3	chr4:3365688..3366496-chr4:3463170..3464043,2	MCF-7	breast:
4	chr4:3110927..3117533-chr4:3461507..3465762,15	MCF-7	breast:
5	chr4:3320217..3323147-chr4:3474744..3477107,2	MCF-7	breast:
6	chr4:3481020..3484183-chr4:3488790..3491004,5	K562	blood:
7	chr4:3347519..3348454-chr4:3481863..3482872,4	K562	blood:
8	chr4:3082342..3084920-chr4:3490322..3492500,2	K562	blood:
9	chr4:3372799..3374407-chr4:3477096..3479436,2	MCF-7	breast:
10	chr4:3464939..3465859-chr4:3486070..3487026,3	MCF-7	breast:
11	chr4:3464667..3465179-chr4:3486678..3487324,2	MCF-7	breast:
12	chr4:3471602..3475518-chr4:3476351..3479966,4	K562	blood:
13	chr4:3497012..3500128-chr4:3532348..3534141,3	K562	blood:
14	chr4:3344785..3347772-chr4:3481036..3482952,2	MCF-7	breast:
15	chr4:3481020..3484183-chr4:3488790..3491004,5	K562	blood:
16	chr4:3462755..3463804-chr4:3486304..3487219,5	MCF-7	breast:
17	chr4:3464939..3465859-chr4:3486070..3487026,3	MCF-7	breast:
18	chr4:3464667..3465179-chr4:3486678..3487324,2	MCF-7	breast:
19	chr4:3294365..3296058-chr4:3468605..3470363,2	MCF-7	breast:
20	chr4:3108064..3109057-chr4:3481789..3482473,3	K562	blood:
21	chr4:3495267..3497538-chr4:3499931..3501588,2	K562	blood:
22	chr4:3483725..3485778-chr4:3827881..3829780,2	MCF-7	breast:
23	chr4:3075047..3077442-chr4:3472520..3475162,3	K562	blood:
24	chr4:3464629..3465770-chr4:3486550..3487347,4	MCF-7	breast:
25	chr4:3287264..3290154-chr4:3470213..3472155,2	MCF-7	breast:
26	chr4:3445342..3446316-chr4:3482040..3482882,2	K562	blood:
27	chr4:3464629..3465770-chr4:3486550..3487347,4	MCF-7	breast:
28	chr4:3478548..3481215-chr4:3487290..3489311,2	K562	blood:
29	chr4:3478548..3481215-chr4:3487290..3489311,2	K562	blood:
30	chr4:3354072..3356995-chr4:3479067..3480969,2	MCF-7	breast:
31	chr4:3292637..3295776-chr4:3483843..3488274,4	MCF-7	breast:
32	chr4:3464614..3465179-chr4:3486100..3486697,2	MCF-7	breast:
33	chr4:3485927..3488368-chr4:3533732..3536345,3	MCF-7	breast:
34	chr4:3347603..3348412-chr4:3481940..3482894,2	MCF-7	breast:
35	chr4:3490007..3491895-chr4:3517979..3519812,2	K562	blood:
36	chr4:3495267..3497538-chr4:3499931..3501588,2	K562	blood:
37	chr4:3444953..3445626-chr4:3481708..3482572,4	MCF-7	breast:
38	chr4:3471602..3475518-chr4:3476351..3479966,4	K562	blood:
39	chr4:3500184..3501840-chr4:3502540..3504182,2	MCF-7	breast:
40	chr4:3462755..3463727-chr4:3486334..3487219,3	MCF-7	breast:
41	chr4:3464468..3466347-chr4:3532849..3534407,2	MCF-7	breast:
42	chr4:3428894..3431544-chr4:3462169..3465013,2	MCF-7	breast:
43	chr4:3500639..3503471-chr4:3531403..3534143,3	K562	blood:
44	chr4:3215167..3215891-chr4:3479590..3480357,2	K562	blood:
45	chr4:3499355..3501891-chr4:3505956..3508239,2	K562	blood:
46	chr11:61737950..61740369-chr4:3461504..3464468,2	MCF-7	breast:
47	chr4:3113077..3115750-chr4:3467353..3469747,2	MCF-7	breast:
48	chr4:3386285..3389665-chr4:3485168..3487566,3	MCF-7	breast:
49	chr4:3498309..3502581-chr4:3507036..3510283,5	MCF-7	breast:
50	chr4:3500336..3503326-chr4:3533188..3535879,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRPAP1-4	chr4:3480710-3483420	ucscGeneNc_uc003ghh_2

No data

Variant related genes	Relation type
DOK7	TF binding region
DOK7	CpG island
ENSG00000163956	chromatin interactions
ENSG00000109758	chromatin interactions
ENSG00000175920	chromatin interactions
ENSG00000197386	chromatin interactions
ENSG00000159788	chromatin interactions
ENSG00000261643	chromatin interactions
ENSG00000251075	chromatin interactions
ENSG00000110619	chromatin interactions

Extended variants
information (count: 2658 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:2658 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	rs184950590	chr4:3463796-3463797	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs149365364	chr4:3463832-3463833	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs143721670	chr4:3463834-3463835	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs527747740	chr4:3463838-3463839	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs541160976	chr4:3463862-3463863	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs377071133	chr4:3463876-3463877	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs1203103	chr4:3463882-3463883	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs532222981	chr4:3463900-3463901	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs73195114	chr4:3463941-3463942	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs148131143	chr4:3463942-3463943	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs531636945	chr4:3463949-3463950	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs547849203	chr4:3463955-3463956	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs115561442	chr4:3463988-3463989	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs368012814	chr4:3463995-3463996	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs78854609	chr4:3463996-3463997	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs372017046	chr4:3464028-3464029	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs553954750	chr4:3464037-3464038	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs74572651	chr4:3464038-3464039	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs539997775	chr4:3464057-3464058	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs556797987	chr4:3464070-3464071	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs576630064	chr4:3464074-3464075	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs190986263	chr4:3464075-3464076	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs372710500	chr4:3464105-3464106	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs146131954	chr4:3464109-3464110	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs558440328	chr4:3464133-3464134	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs541126301	chr4:3464148-3464149	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs564283055	chr4:3464225-3464226	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs376225818	chr4:3464248-3464249	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs545549715	chr4:3464268-3464269	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs548633927	chr4:3464281-3464282	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs183880560	chr4:3464326-3464327	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs573327040	chr4:3464337-3464338	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs375364047	chr4:3464370-3464371	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs548499255	chr4:3464374-3464375	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs140176160	chr4:3464380-3464381	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs540830752	chr4:3464400-3464401	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs113801511	chr4:3464450-3464451	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs1203102	chr4:3464667-3464668	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs142464885	chr4:3464673-3464674	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs5855785	chr4:3464676-3464677	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs35848731	chr4:3464677-3464678	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs71180127	chr4:3464678-3464679	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs6831460	chr4:3464679-3464680	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs199901600	chr4:3464748-3464749	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs11301181	chr4:3464749-3464750	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs570514315	chr4:3464754-3464755	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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

Chromatin state (count:1253 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3462000-3463800	Enhancers	HSMMtube	muscle
2	chr4:3462000-3464000	Enhancers	Fetal Muscle Leg	muscle
3	chr4:3462400-3463800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr4:3462400-3464800	Enhancers	Pancreas	Pancrea
5	chr4:3462600-3464000	Enhancers	Stomach Mucosa	stomach
6	chr4:3462600-3464200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:3462600-3464200	Enhancers	Stomach Smooth Muscle	stomach
8	chr4:3462600-3464600	Enhancers	Gastric	stomach
9	chr4:3462600-3464600	Enhancers	Right Ventricle	heart
10	chr4:3462600-3464800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:3462600-3464800	Enhancers	Fetal Heart	heart
12	chr4:3462600-3464800	Enhancers	Left Ventricle	heart
13	chr4:3462600-3465000	Enhancers	HMEC	breast
14	chr4:3462600-3465800	Enhancers	Liver	Liver
15	chr4:3462800-3463800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr4:3462800-3463800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
17	chr4:3462800-3463800	Enhancers	Aorta	Aorta
18	chr4:3462800-3463800	Enhancers	Esophagus	oesophagus
19	chr4:3462800-3464400	Enhancers	Lung	lung
20	chr4:3462800-3464800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr4:3463000-3464000	Enhancers	Duodenum Mucosa	Duodenum
22	chr4:3463000-3464000	Enhancers	Psoas Muscle	Psoas
23	chr4:3463000-3464800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:3463000-3464800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr4:3463200-3464200	Bivalent Enhancer	Colonic Mucosa	Colon
26	chr4:3463200-3464200	Enhancers	GM12878-XiMat	blood
27	chr4:3463200-3465600	Bivalent Enhancer	Placenta	Placenta
28	chr4:3463400-3463800	Enhancers	Fetal Brain Male	brain
29	chr4:3463400-3463800	Bivalent Enhancer	HepG2	liver
30	chr4:3463400-3464200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:3463400-3464800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
32	chr4:3463400-3464800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr4:3463400-3465000	Enhancers	Hela-S3	cervix
34	chr4:3463400-3465000	Bivalent Enhancer	NHEK	skin
35	chr4:3463600-3463800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:3463600-3464000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr4:3463600-3464600	Flanking Active TSS	HSMM	muscle
38	chr4:3463600-3464800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:3463800-3464000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:3463800-3464000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr4:3463800-3464000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
42	chr4:3463800-3464000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
43	chr4:3463800-3464000	Flanking Bivalent TSS/Enh	HepG2	liver
44	chr4:3463800-3464200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
45	chr4:3463800-3464600	Weak transcription	Aorta	Aorta
46	chr4:3463800-3464800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:3463800-3464800	Flanking Active TSS	HSMMtube	muscle
48	chr4:3464000-3464200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
49	chr4:3464000-3464200	Enhancers	Right Atrium	heart
50	chr4:3464000-3464200	Bivalent Enhancer	HepG2	liver

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