Variant report

Variant	nsv878491
Chromosome Location	chr4:3490328-3510954
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:291)
CpG islands
(count:1283)
Chromatin interactive
region (count:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:291 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr4:3496152-3496215	K562	blood:	n/a	n/a
2	BATF	chr4:3491237-3491472	GM12878	blood:	n/a	n/a
3	BCL3	chr4:3508714-3509066	GM12878	blood:	n/a	n/a
4	BHLHE40	chr4:3501057-3501246	K562	blood:	n/a	n/a
5	BHLHE40	chr4:3491263-3491395	GM12878	blood:	n/a	n/a
6	BHLHE40	chr4:3496279-3496546	HepG2	liver:	n/a	chr4:3496388-3496404
7	CCNT2	chr4:3499800-3499935	K562	blood:	n/a	n/a
8	CCNT2	chr4:3499440-3499519	K562	blood:	n/a	n/a
9	CCNT2	chr4:3503956-3504114	K562	blood:	n/a	chr4:3504025-3504034
10	CEBPB	chr4:3506327-3506529	IMR90	lung:	n/a	n/a
11	CEBPB	chr4:3506326-3506475	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr4:3493665-3493953	IMR90	lung:	n/a	n/a
13	CEBPD	chr4:3498169-3498383	HepG2	liver:	n/a	n/a
14	CHD2	chr4:3498169-3498177	HepG2	liver:	n/a	n/a
15	CHD2	chr4:3496377-3496397	K562	blood:	n/a	n/a
16	CTCF	chr4:3493642-3493658	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr4:3505337-3505413	GM20000	blood:	n/a	n/a
18	CTCF	chr4:3493619-3493659	ProgFib	skin:	n/a	n/a
19	CTCF	chr4:3506619-3506673	Kidney_OC	kidney:	n/a	n/a
20	CTCF	chr4:3493580-3493730	SK-N-SH_RA	brain:	n/a	chr4:3493677-3493690 chr4:3493674-3493692
21	CTCF	chr4:3493640-3493790	WERI-Rb-1	eye:	n/a	chr4:3493677-3493690 chr4:3493674-3493692
22	E2F6	chr4:3500985-3501175	K562	blood:	n/a	n/a
23	EBF1	chr4:3491100-3491599	GM12878	blood:	n/a	chr4:3491284-3491293 chr4:3491282-3491295 chr4:3491283-3491294 chr4:3491284-3491294
24	EBF1	chr4:3491091-3491555	GM12878	blood:	n/a	chr4:3491284-3491293 chr4:3491282-3491295 chr4:3491283-3491294 chr4:3491284-3491294
25	EBF1	chr4:3491024-3491635	GM12878	blood:	n/a	chr4:3491284-3491293 chr4:3491282-3491295 chr4:3491283-3491294 chr4:3491284-3491294
26	EP300	chr4:3491315-3491436	GM12878	blood:	n/a	n/a
27	FOS	chr4:3493755-3493807	MCF10A-Er-Src	breast:	n/a	chr4:3493774-3493784 chr4:3493773-3493785 chr4:3493774-3493784 chr4:3493774-3493784 chr4:3493774-3493783 chr4:3493774-3493784
28	FOSL2	chr4:3497788-3498293	HepG2	liver:	n/a	chr4:3498118-3498127
29	FOSL2	chr4:3498614-3498984	HepG2	liver:	n/a	n/a
30	GABPA	chr4:3495687-3496149	H1-hESC	embryonic stem cell:	n/a	n/a
31	GABPA	chr4:3491338-3491639	H1-hESC	embryonic stem cell:	n/a	n/a
32	HCFC1	chr4:3491530-3491646	K562	blood:	n/a	n/a
33	HMGN3	chr4:3504859-3504879	K562	blood:	n/a	n/a
34	HMGN3	chr4:3505619-3505731	K562	blood:	n/a	n/a
35	HMGN3	chr4:3500377-3500564	K562	blood:	n/a	n/a
36	HMGN3	chr4:3502530-3502659	K562	blood:	n/a	n/a
37	MAFK	chr4:3510364-3510424	HepG2	liver:	n/a	n/a
38	MAX	chr4:3501013-3501236	K562	blood:	n/a	chr4:3501098-3501107 chr4:3501097-3501108
39	MAX	chr4:3491284-3491621	NB4	blood:	n/a	n/a
40	MAX	chr4:3491470-3491679	K562	blood:	n/a	n/a
41	MAX	chr4:3495951-3496613	NB4	blood:	n/a	chr4:3496262-3496271
42	MAX	chr4:3500946-3501257	K562	blood:	n/a	chr4:3501098-3501107 chr4:3501097-3501108
43	MAX	chr4:3500985-3501214	K562	blood:	n/a	chr4:3501098-3501107 chr4:3501097-3501108
44	MAZ	chr4:3491560-3491675	K562	blood:	n/a	n/a
45	MYC	chr4:3505137-3505139	H1-hESC	embryonic stem cell:	n/a	n/a
46	MYC	chr4:3505151-3505260	H1-hESC	embryonic stem cell:	n/a	n/a
47	NFATC1	chr4:3508680-3509106	GM12878	blood:	n/a	n/a
48	PAX5	chr4:3491071-3491483	GM12878	blood:	n/a	chr4:3491079-3491088
49	PAX5	chr4:3510876-3511475	GM12878	blood:	n/a	n/a
50	PML	chr4:3495892-3496611	MCF-7	breast:	n/a	n/a

(count:1283 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:3502381-3502431	IMR90	lung:	fetal
2	chr4:3502575-3502625	NHBE	bronchial:	n/a
3	chr4:3502381-3502431	IMR90	lung:	fetal
4	chr4:3502575-3502625	NHBE	bronchial:	n/a
5	chr4:3500688-3500738	BJ	skin:	n/a
6	chr4:3505042-3505092	HRE	kidney:	n/a
7	chr4:3502518-3502568	GM12892	blood:	n/a
8	chr4:3502575-3502625	HUVEC	blood vessel:	n/a
9	chr4:3494883-3494933	MCF10A-Er-Src	breast:	n/a
10	chr4:3502381-3502431	LNCaP	prostate:	n/a
11	chr4:3505128-3505178	Caco-2	colon:	n/a
12	chr4:3494582-3494632	LNCaP	prostate:	n/a
13	chr4:3510409-3510459	GM19239	blood:	n/a
14	chr4:3510723-3510773	AG09319	gingival:	n/a
15	chr4:3494883-3494933	HRCEpiC	kidney:	n/a
16	chr4:3495242-3495292	SK-N-SH_RA	brain:	n/a
17	chr4:3505042-3505092	HL-60	blood:	n/a
18	chr4:3510723-3510773	ovcar-3	ovarian:	n/a
19	chr4:3510683-3510733	GM12892	blood:	n/a
20	chr4:3495242-3495292	HepG2	liver:	n/a
21	chr4:3500688-3500738	HRE	kidney:	n/a
22	chr4:3502518-3502568	A549	lung:	n/a
23	chr4:3494582-3494632	ECC-1	luminal epithelium:	n/a
24	chr4:3494582-3494632	GM19239	blood:	n/a
25	chr4:3505905-3505955	HPAEpiC	pulmonary alveolar:	n/a
26	chr4:3510723-3510773	HCT-116	colon:	n/a
27	chr4:3510409-3510459	BJ	skin:	n/a
28	chr4:3507205-3507255	HAEpiC	amniotic membrane:	n/a
29	chr4:3502518-3502568	GM12878	blood:	n/a
30	chr4:3510683-3510733	A549	lung:	n/a
31	chr4:3494582-3494632	HUVEC	blood vessel:	n/a
32	chr4:3494582-3494632	HCT-116	colon:	n/a
33	chr4:3495341-3495391	PrEC	prostate:	n/a
34	chr4:3510409-3510459	GM12891	blood:	n/a
35	chr4:3495242-3495292	HEEpiC	esophagus:	n/a
36	chr4:3496300-3496350	K562	blood:	n/a
37	chr4:3500688-3500738	AG04450	lung:	fetal
38	chr4:3510723-3510773	HPAEpiC	pulmonary alveolar:	n/a
39	chr4:3495341-3495391	NB4	blood:	n/a
40	chr4:3499546-3499596	SAEC	small airway:	n/a
41	chr4:3494883-3494933	GM06990	blood:	n/a
42	chr4:3507188-3507238	HMEC	breast:	n/a
43	chr4:3495242-3495292	AG04449	skin:	fetal
44	chr4:3502518-3502568	AG04449	skin:	fetal
45	chr4:3507188-3507238	NT2-D1	testis:	n/a
46	chr4:3507205-3507255	RPTEC	kidney:	n/a
47	chr4:3510935-3510985	HCM	heart:	n/a
48	chr4:3510683-3510733	AoSMC	blood vessel:	n/a
49	chr4:3494883-3494933	HIPEpiC	eye:	n/a
50	chr4:3502575-3502625	AoSMC	blood vessel:	n/a

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:3510589..3512915-chr4:3532511..3535420,4	K562	blood:
2	chr4:3497012..3499150-chr4:3532552..3535474,2	K562	blood:
3	chr4:3500639..3503471-chr4:3531403..3534143,3	K562	blood:
4	chr4:3498309..3502581-chr4:3507036..3510283,5	MCF-7	breast:
5	chr4:3495267..3497538-chr4:3499931..3501588,2	K562	blood:
6	chr4:3489490..3491516-chr4:3532625..3534130,2	K562	blood:
7	chr4:3484197..3487656-chr4:3491883..3496058,4	K562	blood:
8	chr4:3507434..3509576-chr4:3524898..3527608,2	K562	blood:
9	chr4:3499355..3501891-chr4:3505956..3508239,2	K562	blood:
10	chr4:3510781..3520846-chr4:3531784..3535437,12	MCF-7	breast:
11	chr4:3501592..3503192-chr4:3503261..3504809,2	MCF-7	breast:
12	chr4:3505279..3507142-chr4:3509021..3511655,2	K562	blood:
13	chr4:3500184..3501840-chr4:3502540..3504182,2	MCF-7	breast:
14	chr4:3495965..3498998-chr4:3502013..3504996,4	K562	blood:
15	chr4:3491033..3494897-chr4:3496204..3500010,5	K562	blood:
16	chr4:3502958..3505472-chr4:3506122..3508605,2	K562	blood:
17	chr4:3498309..3502581-chr4:3507036..3510283,5	MCF-7	breast:
18	chr4:3495965..3498998-chr4:3502013..3504996,4	K562	blood:
19	chr4:3292635..3294292-chr4:3500969..3502505,2	MCF-7	breast:
20	chr4:3488541..3491242-chr4:3495615..3498535,2	K562	blood:
21	chr4:3293993..3296488-chr4:3491954..3495229,3	MCF-7	breast:
22	chr4:3082342..3084920-chr4:3490322..3492500,2	K562	blood:
23	chr4:3500336..3503326-chr4:3533188..3535879,5	MCF-7	breast:
24	chr4:3490007..3491895-chr4:3517979..3519812,2	K562	blood:
25	chr4:3501592..3503192-chr4:3503261..3504809,2	MCF-7	breast:
26	chr4:3497012..3500128-chr4:3532348..3534141,3	K562	blood:
27	chr4:3499074..3501837-chr4:3515567..3517558,2	K562	blood:
28	chr4:3496124..3499190-chr4:3513529..3517461,3	MCF-7	breast:
29	chr4:3495267..3497538-chr4:3499931..3501588,2	K562	blood:
30	chr4:3509156..3510726-chr4:3517866..3519837,2	K562	blood:
31	chr4:3496237..3498612-chr4:3527624..3529896,2	K562	blood:
32	chr4:3500184..3501840-chr4:3502540..3504182,2	MCF-7	breast:
33	chr4:3481020..3484183-chr4:3488790..3491004,5	K562	blood:
34	chr4:3502316..3505177-chr4:3506173..3509072,3	MCF-7	breast:
35	chr4:3488541..3491242-chr4:3495615..3498535,2	K562	blood:
36	chr4:3505996..3508502-chr4:3532623..3535240,2	MCF-7	breast:

No data

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

Extended variants
information (count: 1663 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1663 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs731450	chr4:3490328-3490329	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534509793	chr4:3490378-3490379	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs557577561	chr4:3490389-3490390	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs577417877	chr4:3490398-3490399	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs543271226	chr4:3490406-3490407	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs556851743	chr4:3490441-3490442	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs563407515	chr4:3490456-3490457	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs17806799	chr4:3490457-3490458	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542633738	chr4:3490465-3490466	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs116664635	chr4:3490506-3490507	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs539019689	chr4:3490512-3490513	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs145946685	chr4:3490518-3490519	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs374555955	chr4:3490522-3490523	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs528234237	chr4:3490531-3490532	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs545272007	chr4:3490532-3490533	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs565433399	chr4:3490533-3490534	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs80074539	chr4:3490552-3490553	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs551263062	chr4:3490568-3490569	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs2248687	chr4:3490579-3490580	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs530021903	chr4:3490584-3490585	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs547007339	chr4:3490627-3490628	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs566849535	chr4:3490633-3490634	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs1881799	chr4:3490634-3490635	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs376253587	chr4:3490671-3490672	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs571074100	chr4:3490672-3490673	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs372292826	chr4:3490696-3490697	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs147639884	chr4:3490709-3490710	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs142309172	chr4:3490715-3490716	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs147025632	chr4:3490716-3490717	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs546288762	chr4:3490726-3490727	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs374800699	chr4:3490727-3490728	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs552983467	chr4:3490740-3490741	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs572755541	chr4:3490744-3490745	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs545085919	chr4:3490769-3490770	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs7666337	chr4:3490784-3490785	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs531099747	chr4:3490801-3490802	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs12507200	chr4:3490818-3490819	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs138297843	chr4:3490857-3490858	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs762865	chr4:3490871-3490872	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs546980121	chr4:3490877-3490878	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs12510300	chr4:3490878-3490879	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs532415151	chr4:3490879-3490880	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs5855788	chr4:3490938-3490939	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs569035348	chr4:3490944-3490945	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs536831612	chr4:3490948-3490949	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs190604624	chr4:3490977-3490978	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs568623631	chr4:3491022-3491023	Enhancers Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs143297015	chr4:3491025-3491026	Enhancers Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs148334299	chr4:3491037-3491038	Enhancers Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs181430025	chr4:3491043-3491044	Enhancers Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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

Chromatin state (count:677 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3467000-3493600	Weak transcription	Aorta	Aorta
2	chr4:3476800-3490800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr4:3481400-3491200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:3486800-3491600	Enhancers	HSMM	muscle
5	chr4:3487200-3506800	Weak transcription	Psoas Muscle	Psoas
6	chr4:3487400-3497000	Weak transcription	Pancreas	Pancrea
7	chr4:3487400-3497800	Weak transcription	Right Atrium	heart
8	chr4:3487600-3491000	Weak transcription	Osteobl	bone
9	chr4:3487800-3501800	Weak transcription	Gastric	stomach
10	chr4:3488200-3490800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:3488200-3491000	Enhancers	HMEC	breast
12	chr4:3488200-3491200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:3488600-3491600	Enhancers	Primary B cells from peripheral blood	blood
14	chr4:3488600-3507600	Weak transcription	Primary B cells from cord blood	blood
15	chr4:3488800-3490400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:3489200-3490600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:3489200-3491200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr4:3489200-3491600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:3489200-3495200	Weak transcription	Fetal Heart	heart
20	chr4:3489400-3491000	Genic enhancers	Right Ventricle	heart
21	chr4:3489400-3493000	Weak transcription	HSMMtube	muscle
22	chr4:3489400-3496200	Weak transcription	Left Ventricle	heart
23	chr4:3489600-3491600	Weak transcription	Fetal Muscle Leg	muscle
24	chr4:3489800-3490400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
25	chr4:3489800-3490800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:3489800-3491600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr4:3489800-3491600	Weak transcription	Brain Substantia Nigra	brain
28	chr4:3489800-3492000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr4:3489800-3506800	Weak transcription	Brain Angular Gyrus	brain
30	chr4:3490000-3490800	Weak transcription	Spleen	Spleen
31	chr4:3490200-3490800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr4:3490400-3490800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
33	chr4:3490400-3495400	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr4:3490600-3490800	Bivalent Enhancer	Brain Germinal Matrix	brain
35	chr4:3490600-3491000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:3490800-3491000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr4:3490800-3491200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr4:3490800-3491400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:3490800-3491400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:3490800-3491600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:3490800-3491600	Enhancers	Spleen	Spleen
42	chr4:3490800-3491800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:3491000-3491400	Enhancers	Osteobl	bone
44	chr4:3491000-3491600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr4:3491000-3491600	Bivalent Enhancer	Placenta	Placenta
46	chr4:3491000-3493600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:3491000-3493600	Strong transcription	Right Ventricle	heart
48	chr4:3491000-3510200	Weak transcription	HMEC	breast
49	chr4:3491200-3491400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
50	chr4:3491200-3491400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell

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