Variant report

Variant	rs4344373
Chromosome Location	chr1:95581600-95581601
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPD	chr1:95581314-95581663	HepG2	liver:	n/a	chr1:95581481-95581492
2	NR2F2	chr1:95581041-95581722	K562	blood:	n/a	n/a
3	FOS	chr1:95581400-95581659	MCF10A-Er-Src	breast:	n/a	n/a
4	CEBPB	chr1:95581333-95581722	ECC-1	luminal epithelium:	n/a	chr1:95581482-95581493 chr1:95581481-95581494
5	EGR1	chr1:95581151-95581609	K562	blood:	n/a	n/a
6	CEBPB	chr1:95581248-95581767	HepG2	liver:	n/a	chr1:95581482-95581493 chr1:95581481-95581494
7	FOXA2	chr1:95581296-95581638	HepG2	liver:	n/a	n/a
8	GATA2	chr1:95581057-95581680	K562	blood:	n/a	chr1:95581629-95581640
9	SPI1	chr1:95581442-95581832	HL-60	blood:	n/a	n/a
10	CEBPD	chr1:95581377-95581641	HepG2	liver:	n/a	chr1:95581481-95581492
11	NR2F2	chr1:95581088-95581610	K562	blood:	n/a	n/a
12	CEBPB	chr1:95581021-95581886	K562	blood:	n/a	chr1:95581482-95581493 chr1:95581481-95581494
13	PML	chr1:95581022-95581660	K562	blood:	n/a	n/a
14	TEAD4	chr1:95581213-95581792	HepG2	liver:	n/a	n/a
15	CEBPB	chr1:95581334-95581702	IMR90	lung:	n/a	chr1:95581482-95581493 chr1:95581481-95581494
16	FOXA1	chr1:95581214-95581675	HepG2	liver:	n/a	n/a
17	FOS	chr1:95581350-95581663	MCF10A-Er-Src	breast:	n/a	n/a
18	SPI1	chr1:95581509-95581734	K562	blood:	n/a	n/a
19	EP300	chr1:95581363-95581615	Hela-S3	cervix:	n/a	chr1:95581479-95581493
20	TEAD4	chr1:95581008-95581771	K562	blood:	n/a	n/a
21	STAT5A	chr1:95581093-95581629	K562	blood:	n/a	n/a
22	TBP	chr1:95581125-95581686	K562	blood:	n/a	n/a
23	CEBPB	chr1:95581400-95581628	H1-hESC	embryonic stem cell:	n/a	chr1:95581482-95581493 chr1:95581481-95581494
24	NR3C1	chr1:95581302-95581801	A549	lung:	n/a	chr1:95581407-95581420 chr1:95581703-95581716 chr1:95581331-95581338 chr1:95581328-95581337
25	NR3C1	chr1:95581365-95581671	A549	lung:	n/a	chr1:95581407-95581420
26	CEBPB	chr1:95581290-95581743	ECC-1	luminal epithelium:	n/a	chr1:95581482-95581493 chr1:95581481-95581494
27	EP300	chr1:95581058-95581655	K562	blood:	n/a	chr1:95581479-95581493
28	CEBPB	chr1:95581335-95581702	A549	lung:	n/a	chr1:95581482-95581493 chr1:95581481-95581494
29	CBX3	chr1:95581133-95581732	K562	blood:	n/a	n/a
30	CEBPB	chr1:95581058-95581867	K562	blood:	n/a	chr1:95581482-95581493 chr1:95581481-95581494
31	FOXA1	chr1:95581240-95581700	HepG2	liver:	n/a	n/a
32	FOS	chr1:95581259-95581631	MCF10A-Er-Src	breast:	n/a	n/a
33	CEBPB	chr1:95581327-95581703	Hela-S3	cervix:	n/a	chr1:95581482-95581493 chr1:95581481-95581494
34	NR3C1	chr1:95581334-95581757	A549	lung:	n/a	chr1:95581407-95581420 chr1:95581703-95581716
35	SP1	chr1:95581262-95581748	HepG2	liver:	n/a	n/a
36	MYBL2	chr1:95581268-95581747	HepG2	liver:	n/a	n/a
37	CEBPB	chr1:95581303-95581727	A549	lung:	n/a	chr1:95581482-95581493 chr1:95581481-95581494
38	EP300	chr1:95581243-95581685	HepG2	liver:	n/a	chr1:95581479-95581493
39	ZMIZ1	chr1:95581171-95581606	K562	blood:	n/a	n/a
40	CTCF	chr1:95581460-95581610	HEK293	kidney:	n/a	n/a
41	CEBPD	chr1:95581091-95581812	K562	blood:	n/a	chr1:95581481-95581492
42	STAT5A	chr1:95581034-95581754	K562	blood:	n/a	n/a
43	CEBPB	chr1:95581269-95581758	MCF-7	breast:	n/a	chr1:95581482-95581493 chr1:95581481-95581494
44	RCOR1	chr1:95581111-95581797	K562	blood:	n/a	n/a
45	CEBPD	chr1:95580991-95581750	K562	blood:	n/a	chr1:95581481-95581492
46	FOXA1	chr1:95581273-95581614	HepG2	liver:	n/a	n/a
47	HDAC2	chr1:95581302-95581722	HepG2	liver:	n/a	n/a
48	GABPA	chr1:95581101-95581611	K562	blood:	n/a	n/a
49	E2F4	chr1:95581135-95583029	MCF10A-Er-Src	breast:	n/a	chr1:95582289-95582298 chr1:95582642-95582651
50	CEBPB	chr1:95581326-95581647	MCF-7	breast:	n/a	chr1:95581482-95581493 chr1:95581481-95581494

No.	Distal block	Cell Line	Cell type
1	chr1:95581571..95584597-chr1:95698513..95700535,3	MCF-7	breast:
2	chr1:94946963..94948709-chr1:95581027..95583387,2	K562	blood:
3	chr1:95577752..95581790-chr1:95581855..95584357,3	MCF-7	breast:
4	chr1:95580754..95585035-chr1:95586074..95591340,6	K562	blood:
5	chr1:95579611..95582560-chr1:95641374..95643709,2	K562	blood:
6	chr1:95537896..95540428-chr1:95580653..95582591,2	MCF-7	breast:

Variant related genes	Relation type
TMEM56-RWDD3	TF binding region
TMEM56	TF binding region
ENSG00000231992	TF binding region
ENSG00000206679	Chromatin interaction
ENSG00000122481	Chromatin interaction
ENSG00000117528	Chromatin interaction
ENSG00000226026	Chromatin interaction
ENSG00000172339	Chromatin interaction
ENSG00000271092	Chromatin interaction
ENSG00000152078	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1023330	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12563424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12563592	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12741128	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12748237	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4245670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4950077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4950083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3354291	chr1:95580964-95585362	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95580800-95581600	Enhancers	Liver	Liver
2	chr1:95580800-95581600	Enhancers	HepG2	liver
3	chr1:95581000-95582200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr1:95581000-95582400	Flanking Active TSS	K562	blood
5	chr1:95581200-95581600	Enhancers	HMEC	breast
6	chr1:95581200-95582000	Enhancers	Fetal Heart	heart
7	chr1:95581200-95582000	Enhancers	Hela-S3	cervix
8	chr1:95581200-95582200	Enhancers	Brain Anterior Caudate	brain
9	chr1:95581200-95582200	Enhancers	Fetal Intestine Large	intestine
10	chr1:95581200-95582200	Enhancers	Fetal Intestine Small	intestine
11	chr1:95581400-95581600	Bivalent Enhancer	Primary B cells from cord blood	blood
12	chr1:95581400-95581600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
13	chr1:95581400-95581600	Enhancers	Esophagus	oesophagus
14	chr1:95581400-95581600	Enhancers	Right Ventricle	heart
15	chr1:95581400-95581800	Enhancers	A549	lung
16	chr1:95581600-95582000	Enhancers	Brain Cingulate Gyrus	brain
17	chr1:95581600-95582000	Weak transcription	HMEC	breast
18	chr1:95581600-95582200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:95581600-95582200	Enhancers	Placenta	Placenta
20	chr1:95581600-95582400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:95581600-95582400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
22	chr1:95581600-95582400	Weak transcription	Esophagus	oesophagus
23	chr1:95581600-95582400	Flanking Active TSS	HepG2	liver
24	chr1:95581600-95582800	Flanking Active TSS	Liver	Liver

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