Variant report

Variant	rs4447807
Chromosome Location	chr3:46069460-46069461
allele	A/G
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	POLR2A	chr3:46069316-46069712	U87	brain:	n/a	n/a
2	JUND	chr3:46069384-46069581	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr3:46069316-46069657	U87	brain:	n/a	n/a
4	KAP1	chr3:46069327-46070043	K562	blood:	n/a	n/a
5	SETDB1	chr3:46069436-46069960	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
XCR1	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10510747	0.83[EUR][1000 genomes]
rs12054287	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12486449	0.84[EUR][1000 genomes]
rs13434141	0.85[EUR][1000 genomes]
rs1491953	0.81[ASN][1000 genomes]
rs1491960	0.84[EUR][1000 genomes]
rs17078567	0.86[EUR][1000 genomes]
rs2036295	0.84[EUR][1000 genomes]
rs2133662	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173639	0.85[EUR][1000 genomes]
rs4490402	0.86[EUR][1000 genomes]
rs4682804	0.83[EUR][1000 genomes]
rs4683169	0.89[EUR][1000 genomes]
rs4683174	0.86[EUR][1000 genomes]
rs56800498	0.90[EUR][1000 genomes]
rs58035200	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59865404	0.84[EUR][1000 genomes]
rs60539039	0.86[EUR][1000 genomes]
rs60991632	0.89[EUR][1000 genomes]
rs61066315	0.81[EUR][1000 genomes]
rs61254379	0.86[EUR][1000 genomes]
rs62242832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62242846	0.90[EUR][1000 genomes]
rs62243869	0.86[EUR][1000 genomes]
rs62243871	0.85[ASN][1000 genomes]
rs62243873	0.83[EUR][1000 genomes]
rs62243875	0.92[EUR][1000 genomes]
rs62243876	0.92[EUR][1000 genomes]
rs62243906	0.88[EUR][1000 genomes]
rs6763341	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6807854	0.91[EUR][1000 genomes]
rs751625	0.83[EUR][1000 genomes]
rs7623476	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7629999	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7641151	0.80[EUR][1000 genomes]
rs7641164	0.80[EUR][1000 genomes]
rs7643426	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9818635	0.87[EUR][1000 genomes]
rs9849715	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2756987	chr3:46016464-46120400	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2759145	chr3:46016464-46120400	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1805205	chr3:46032847-46111081	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46068200-46069600	Enhancers	Placenta	Placenta
2	chr3:46068600-46069600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:46068600-46069800	ZNF genes & repeats	GM12878-XiMat	blood
4	chr3:46069000-46069600	Enhancers	H1 Cell Line	embryonic stem cell

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