Variant report

Variant	nsv878484
Chromosome Location	chr4:3473139-3499153
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:863)
CpG islands
(count:2077)
Chromatin interactive
region (count:50)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:863 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr4:3482260-3482611	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr4:3482298-3482759	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr4:3482512-3482601	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr4:3496152-3496215	K562	blood:	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	chr4:3475144-3475461	GM12878	blood:	n/a	n/a
8	BCL3	chr4:3475204-3475428	GM12878	blood:	n/a	n/a
9	BHLHE40	chr4:3496279-3496546	HepG2	liver:	n/a	chr4:3496388-3496404
10	BHLHE40	chr4:3482383-3482568	GM12878	blood:	n/a	n/a
11	BHLHE40	chr4:3479250-3479561	HepG2	liver:	n/a	chr4:3479409-3479418 chr4:3479409-3479418 chr4:3479408-3479417 chr4:3479403-3479424
12	BHLHE40	chr4:3491263-3491395	GM12878	blood:	n/a	n/a
13	BHLHE40	chr4:3478312-3478492	HepG2	liver:	n/a	n/a
14	BHLHE40	chr4:3486390-3486566	GM12878	blood:	n/a	n/a
15	BHLHE40	chr4:3486975-3487201	GM12878	blood:	n/a	n/a
16	BHLHE40	chr4:3480551-3480684	K562	blood:	n/a	n/a
17	BHLHE40	chr4:3482321-3482582	HepG2	liver:	n/a	n/a
18	BHLHE40	chr4:3479316-3479464	K562	blood:	n/a	chr4:3479409-3479418 chr4:3479409-3479418 chr4:3479408-3479417 chr4:3479403-3479424
19	BHLHE40	chr4:3482294-3482545	K562	blood:	n/a	n/a
20	BRCA1	chr4:3482384-3482586	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr4:3482275-3482539	H1-hESC	embryonic stem cell:	n/a	n/a
22	CBX3	chr4:3482279-3482637	K562	blood:	n/a	n/a
23	CCNT2	chr4:3480418-3480529	K562	blood:	n/a	n/a
24	CCNT2	chr4:3482381-3482557	K562	blood:	n/a	n/a
25	CEBPB	chr4:3482205-3482557	K562	blood:	n/a	n/a
26	CEBPB	chr4:3482236-3482560	K562	blood:	n/a	n/a
27	CEBPB	chr4:3482210-3482696	ECC-1	luminal epithelium:	n/a	n/a
28	CEBPB	chr4:3493665-3493953	IMR90	lung:	n/a	n/a
29	CEBPB	chr4:3482295-3482572	HepG2	liver:	n/a	n/a
30	CEBPB	chr4:3482279-3482561	A549	lung:	n/a	n/a
31	CEBPB	chr4:3482226-3482506	MCF-7	breast:	n/a	n/a
32	CEBPB	chr4:3482224-3482577	IMR90	lung:	n/a	n/a
33	CEBPB	chr4:3482293-3482579	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr4:3485772-3486821	ECC-1	luminal epithelium:	n/a	n/a
35	CEBPB	chr4:3482254-3482576	Hela-S3	cervix:	n/a	n/a
36	CEBPD	chr4:3498169-3498383	HepG2	liver:	n/a	n/a
37	CHD1	chr4:3482157-3482731	IMR90	lung:	n/a	n/a
38	CHD2	chr4:3482486-3482565	HepG2	liver:	n/a	n/a
39	CHD2	chr4:3486913-3487328	GM12878	blood:	n/a	n/a
40	CHD2	chr4:3496377-3496397	K562	blood:	n/a	n/a
41	CHD2	chr4:3482842-3483195	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr4:3482312-3482602	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr4:3486506-3486633	GM12878	blood:	n/a	n/a
44	CHD2	chr4:3482373-3482576	K562	blood:	n/a	n/a
45	CHD2	chr4:3486927-3487016	Hela-S3	cervix:	n/a	n/a
46	CHD2	chr4:3486077-3486391	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr4:3498169-3498177	HepG2	liver:	n/a	n/a
48	CREB1	chr4:3485896-3486689	ECC-1	luminal epithelium:	n/a	n/a
49	CREB1	chr4:3485934-3486768	ECC-1	luminal epithelium:	n/a	n/a
50	CTBP2	chr4:3482842-3483369	H1-hESC	embryonic stem cell:	n/a	n/a

(count:2077 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:3484049-3484099	SK-N-SH_RA	brain:	n/a
2	chr4:3475328-3475378	HEEpiC	esophagus:	n/a
3	chr4:3475262-3475312	HepG2	liver:	n/a
4	chr4:3484049-3484099	SK-N-SH_RA	brain:	n/a
5	chr4:3475328-3475378	HEEpiC	esophagus:	n/a
6	chr4:3475262-3475312	HepG2	liver:	n/a
7	chr4:3495341-3495391	HMEC	breast:	n/a
8	chr4:3475233-3475283	GM12891	blood:	n/a
9	chr4:3486380-3486430	SK-N-SH	brain:	n/a
10	chr4:3475372-3475422	BE2_C	brain:	n/a
11	chr4:3475262-3475312	HCM	heart:	n/a
12	chr4:3485326-3485376	GM12891	blood:	n/a
13	chr4:3475262-3475312	NHBE	bronchial:	n/a
14	chr4:3494883-3494933	SAEC	small airway:	n/a
15	chr4:3494582-3494632	SK-N-SH_RA	brain:	n/a
16	chr4:3473595-3473645	LNCaP	prostate:	n/a
17	chr4:3495242-3495292	MCF-7	breast:	n/a
18	chr4:3475233-3475283	GM06990	blood:	n/a
19	chr4:3473595-3473645	IMR90	lung:	fetal
20	chr4:3475372-3475422	HRE	kidney:	n/a
21	chr4:3478348-3478398	BJ	skin:	n/a
22	chr4:3475093-3475143	GM19239	blood:	n/a
23	chr4:3495242-3495292	Hela-S3	cervix:	n/a
24	chr4:3473737-3473787	ECC-1	luminal epithelium:	n/a
25	chr4:3486039-3486089	HCPEpiC	choroid plexus:	n/a
26	chr4:3475233-3475283	HRCEpiC	kidney:	n/a
27	chr4:3487334-3487384	ovcar-3	ovarian:	n/a
28	chr4:3485393-3485443	AG10803	skin:	n/a
29	chr4:3475041-3475091	AoSMC	blood vessel:	n/a
30	chr4:3478348-3478398	IMR90	lung:	fetal
31	chr4:3486204-3486254	NH-A	brain:	n/a
32	chr4:3495242-3495292	GM06990	blood:	n/a
33	chr4:3485263-3485313	CMK	blood:	n/a
34	chr4:3487334-3487384	NB4	blood:	n/a
35	chr4:3478064-3478114	PFSK-1	brain:	n/a
36	chr4:3486204-3486254	A549	lung:	n/a
37	chr4:3489931-3489981	PANC-1	pancreas:	n/a
38	chr4:3475262-3475312	MCF-7	breast:	n/a
39	chr4:3495341-3495391	AoSMC	blood vessel:	n/a
40	chr4:3478348-3478398	AG10803	skin:	n/a
41	chr4:3480318-3480368	HMEC	breast:	n/a
42	chr4:3482507-3482557	IMR90	lung:	fetal
43	chr4:3475328-3475378	SKMC	muscle:	n/a
44	chr4:3478064-3478114	HepG2	liver:	n/a
45	chr4:3485393-3485443	HUVEC	blood vessel:	n/a
46	chr4:3485326-3485376	HCPEpiC	choroid plexus:	n/a
47	chr4:3475372-3475422	NH-A	brain:	n/a
48	chr4:3478348-3478398	GM12891	blood:	n/a
49	chr4:3475093-3475143	AG04450	lung:	fetal
50	chr4:3489931-3489981	MCF-7	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr4:3485927..3488368-chr4:3533732..3536345,3	MCF-7	breast:
2	chr4:3075047..3077442-chr4:3472520..3475162,3	K562	blood:
3	chr4:3487684..3490277-chr4:3491908..3495748,6	K562	blood:
4	chr4:3344785..3347772-chr4:3481036..3482952,2	MCF-7	breast:
5	chr4:3418569..3420412-chr4:3484561..3487471,2	MCF-7	breast:
6	chr4:3488541..3491242-chr4:3495615..3498535,2	K562	blood:
7	chr4:3499074..3501837-chr4:3515567..3517558,2	K562	blood:
8	chr4:3484197..3487656-chr4:3491883..3496058,4	K562	blood:
9	chr4:3497012..3499150-chr4:3532552..3535474,2	K562	blood:
10	chr4:3464667..3465179-chr4:3486678..3487324,2	MCF-7	breast:
11	chr4:3496237..3498612-chr4:3527624..3529896,2	K562	blood:
12	chr4:3490007..3491895-chr4:3517979..3519812,2	K562	blood:
13	chr4:3445342..3446316-chr4:3482040..3482882,2	K562	blood:
14	chr4:3481541..3484039-chr4:3515010..3518175,3	MCF-7	breast:
15	chr4:3481517..3483185-chr4:3946552..3949445,2	MCF-7	breast:
16	chr4:3481101..3483332-chr4:3533329..3535150,2	MCF-7	breast:
17	chr4:3082342..3084920-chr4:3490322..3492500,2	K562	blood:
18	chr4:3481020..3484183-chr4:3488790..3491004,5	K562	blood:
19	chr4:3444953..3445626-chr4:3481708..3482572,4	MCF-7	breast:
20	chr4:3484714..3487220-chr4:3532599..3535251,4	MCF-7	breast:
21	chr4:3320217..3323147-chr4:3474744..3477107,2	MCF-7	breast:
22	chr4:3491033..3494897-chr4:3496204..3500010,5	K562	blood:
23	chr4:3471602..3475518-chr4:3476351..3479966,4	K562	blood:
24	chr4:3498309..3502581-chr4:3507036..3510283,5	MCF-7	breast:
25	chr4:3478548..3481215-chr4:3487290..3489311,2	K562	blood:
26	chr4:3484197..3487656-chr4:3491883..3496058,4	K562	blood:
27	chr4:3464614..3465179-chr4:3486100..3486697,2	MCF-7	breast:
28	chr4:3108064..3109057-chr4:3481789..3482473,3	K562	blood:
29	chr4:3481020..3484183-chr4:3488790..3491004,5	K562	blood:
30	chr4:3386285..3389665-chr4:3485168..3487566,3	MCF-7	breast:
31	chr4:3497012..3500128-chr4:3532348..3534141,3	K562	blood:
32	chr4:3478548..3481215-chr4:3487290..3489311,2	K562	blood:
33	chr4:3372799..3374407-chr4:3477096..3479436,2	MCF-7	breast:
34	chr4:3483725..3485778-chr4:3827881..3829780,2	MCF-7	breast:
35	chr4:3488541..3491242-chr4:3495615..3498535,2	K562	blood:
36	chr4:3495965..3498998-chr4:3502013..3504996,4	K562	blood:
37	chr4:3347519..3348454-chr4:3481863..3482872,4	K562	blood:
38	chr4:3496124..3499190-chr4:3513529..3517461,3	MCF-7	breast:
39	chr4:3293993..3296488-chr4:3491954..3495229,3	MCF-7	breast:
40	chr4:3215167..3215891-chr4:3479590..3480357,2	K562	blood:
41	chr4:3464939..3465859-chr4:3486070..3487026,3	MCF-7	breast:
42	chr4:3292637..3295776-chr4:3483843..3488274,4	MCF-7	breast:
43	chr4:3346980..3350932-chr4:3475951..3478417,3	MCF-7	breast:
44	chr4:3464629..3465770-chr4:3486550..3487347,4	MCF-7	breast:
45	chr4:3347603..3348412-chr4:3481940..3482894,2	MCF-7	breast:
46	chr4:3489490..3491516-chr4:3532625..3534130,2	K562	blood:
47	chr4:3439130..3442230-chr4:3483136..3486025,3	MCF-7	breast:
48	chr4:3354072..3356995-chr4:3479067..3480969,2	MCF-7	breast:
49	chr4:3471602..3475518-chr4:3476351..3479966,4	K562	blood:
50	chr4:3495267..3497538-chr4:3499931..3501588,2	K562	blood:

(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
ENSG00000175920	chromatin interactions
ENSG00000163956	chromatin interactions
ENSG00000197386	chromatin interactions
ENSG00000159788	chromatin interactions
ENSG00000109758	chromatin interactions
ENSG00000251075	chromatin interactions

Extended variants
information (count: 1945 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1945 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6831256	chr4:3473139-3473140	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs139600507	chr4:3473218-3473219	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs372767411	chr4:3473220-3473221	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs60161752	chr4:3473233-3473234	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs10007223	chr4:3473246-3473247	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs368817571	chr4:3473252-3473253	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs553912487	chr4:3473284-3473285	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs577012088	chr4:3473293-3473294	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs13130148	chr4:3473298-3473299	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs556458971	chr4:3473308-3473309	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs556722218	chr4:3473317-3473318	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs541821424	chr4:3473327-3473328	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs369097788	chr4:3473346-3473347	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs373165789	chr4:3473351-3473352	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs561697504	chr4:3473352-3473353	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs572083287	chr4:3473367-3473368	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs78669152	chr4:3473413-3473414	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs35031314	chr4:3473419-3473420	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs149745975	chr4:3473446-3473447	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs533322628	chr4:3473447-3473448	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs35283737	chr4:3473450-3473451	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs145167478	chr4:3473451-3473452	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs34930788	chr4:3473484-3473485	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs371175578	chr4:3473544-3473545	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs13128489	chr4:3473602-3473603	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs548950419	chr4:3473609-3473610	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs9993029	chr4:3473639-3473640	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs535115313	chr4:3473644-3473645	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs11947232	chr4:3473647-3473648	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs4690103	chr4:3473650-3473651	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs9993109	chr4:3473659-3473660	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs556418100	chr4:3473700-3473701	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs576385722	chr4:3473701-3473702	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs10024689	chr4:3473718-3473719	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs185608406	chr4:3473738-3473739	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs375867411	chr4:3473743-3473744	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs11947277	chr4:3473751-3473752	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs372403905	chr4:3473752-3473753	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs563978692	chr4:3473758-3473759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs577688715	chr4:3473763-3473764	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs376769683	chr4:3473769-3473770	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs554663981	chr4:3473770-3473771	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs190907680	chr4:3473804-3473805	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs143623380	chr4:3473832-3473833	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs549314276	chr4:3473837-3473838	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs559691488	chr4:3473857-3473858	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs182904303	chr4:3473874-3473875	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs551758209	chr4:3473894-3473895	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs571625376	chr4:3473925-3473926	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs531046278	chr4:3473962-3473963	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 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
Pancreatic cancer	17952125	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

Chromatin state (count:832 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3466400-3482400	Weak transcription	Right Atrium	heart
2	chr4:3467000-3493600	Weak transcription	Aorta	Aorta
3	chr4:3468600-3478400	Weak transcription	HSMMtube	muscle
4	chr4:3468800-3475000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:3468800-3486400	Weak transcription	Psoas Muscle	Psoas
6	chr4:3469200-3473200	Enhancers	Right Ventricle	heart
7	chr4:3469800-3475400	Enhancers	Pancreas	Pancrea
8	chr4:3470800-3475000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:3470800-3478800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:3471000-3474800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
11	chr4:3471800-3473200	Bivalent Enhancer	Fetal Stomach	stomach
12	chr4:3471800-3473200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr4:3472600-3475000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:3472600-3475000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:3472800-3473800	Strong transcription	HSMM	muscle
16	chr4:3472800-3474800	Weak transcription	Fetal Muscle Leg	muscle
17	chr4:3473000-3473800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:3473000-3474400	Weak transcription	Fetal Heart	heart
19	chr4:3473000-3474400	Weak transcription	Left Ventricle	heart
20	chr4:3473000-3475200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr4:3473000-3475200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr4:3473000-3478800	Weak transcription	Gastric	stomach
23	chr4:3473200-3473600	Weak transcription	Right Ventricle	heart
24	chr4:3473200-3473800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr4:3473600-3473800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:3473600-3473800	Enhancers	Right Ventricle	heart
27	chr4:3473600-3474000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:3473800-3474000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr4:3473800-3474000	Weak transcription	Right Ventricle	heart
30	chr4:3473800-3475400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:3473800-3475400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr4:3473800-3481200	Weak transcription	HSMM	muscle
33	chr4:3474000-3474400	Active TSS	Spleen	Spleen
34	chr4:3474000-3474600	Genic enhancers	Right Ventricle	heart
35	chr4:3474200-3475200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:3474400-3476200	Enhancers	Left Ventricle	heart
37	chr4:3474400-3477200	Enhancers	Fetal Heart	heart
38	chr4:3474600-3474800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
39	chr4:3474600-3475200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
40	chr4:3474600-3475600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:3474600-3477200	Enhancers	Right Ventricle	heart
42	chr4:3474800-3475000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:3474800-3475200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:3474800-3475200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:3474800-3475200	Enhancers	Brain Germinal Matrix	brain
46	chr4:3474800-3475200	Enhancers	Fetal Muscle Leg	muscle
47	chr4:3474800-3475400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr4:3474800-3475400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr4:3475000-3475200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:3475000-3475200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell

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