Variant report

Variant	rs72749588
Chromosome Location	chr1:224048665-224048666
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr1:224048563-224048763	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:224043695..224046031-chr1:224047315..224049831,3	K562	blood:
2	chr1:224030773..224035996-chr1:224045738..224052159,10	MCF-7	breast:
3	chr1:224048345..224051041-chr1:224057644..224060087,2	K562	blood:
4	chr1:224042155..224044743-chr1:224047523..224049219,2	MCF-7	breast:
5	chr1:224032237..224035602-chr1:224046110..224051630,7	MCF-7	breast:

No data

Variant related genes	Relation type
PHBP11	TF binding region
ENSG00000227621	Chromatin interaction
ENSG00000143514	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1003061	0.88[ASN][1000 genomes]
rs1037952	0.84[EUR][1000 genomes]
rs1153927	0.92[ASN][1000 genomes]
rs1153929	0.89[ASN][1000 genomes]
rs1153930	0.89[ASN][1000 genomes]
rs1153933	0.89[ASN][1000 genomes]
rs1153934	0.89[ASN][1000 genomes]
rs1153936	0.86[ASN][1000 genomes]
rs1153947	0.85[ASN][1000 genomes]
rs1153949	0.85[ASN][1000 genomes]
rs1153971	0.90[ASN][1000 genomes]
rs1153973	0.92[ASN][1000 genomes]
rs1222120	0.86[ASN][1000 genomes]
rs1222121	0.86[ASN][1000 genomes]
rs1222124	0.92[ASN][1000 genomes]
rs1222128	0.92[ASN][1000 genomes]
rs1222146	0.85[ASN][1000 genomes]
rs1621129	0.83[ASN][1000 genomes]
rs16842270	0.89[ASN][1000 genomes]
rs16842294	0.95[ASN][1000 genomes]
rs16842321	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1981171	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1982610	0.95[ASN][1000 genomes]
rs1982612	0.95[ASN][1000 genomes]
rs1982613	0.95[ASN][1000 genomes]
rs2242188	0.86[ASN][1000 genomes]
rs28370172	0.85[ASN][1000 genomes]
rs3738370	0.94[ASN][1000 genomes]
rs3767709	0.80[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4653457	0.85[ASN][1000 genomes]
rs56329085	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs56918361	0.94[ASN][1000 genomes]
rs59104475	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs59196624	0.86[ASN][1000 genomes]
rs60131749	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs60164080	0.89[ASN][1000 genomes]
rs60596974	0.85[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs60739082	0.85[ASN][1000 genomes]
rs6604726	0.85[ASN][1000 genomes]
rs6661816	0.87[ASN][1000 genomes]
rs6675712	0.85[ASN][1000 genomes]
rs6694214	0.85[ASN][1000 genomes]
rs6703817	0.84[EUR][1000 genomes]
rs72749591	0.92[EUR][1000 genomes]
rs72749597	0.90[EUR][1000 genomes]
rs72749599	0.90[EUR][1000 genomes]
rs7536779	0.94[ASN][1000 genomes]
rs898878	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	esv1793921	chr1:224048131-224105965	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv945313	chr1:224048561-224060636	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224044800-224051800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:224048400-224052000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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