Variant report

Variant	rs2314619
Chromosome Location	chr3:155014872-155014873
allele	C/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	KAP1	chr3:155013869-155016431	K562	blood:	n/a	n/a
2	SETDB1	chr3:155013831-155016300	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:155014661..155016356-chr3:155017563..155020187,2	K562	blood:
2	chr3:155014856..155017723-chr3:155018548..155020187,2	K562	blood:

Variant related genes	Relation type
ENSG00000240045	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1038484	0.84[CHB][hapmap]
rs10460859	0.92[EUR][1000 genomes]
rs11717066	0.94[EUR][1000 genomes]
rs12485769	0.94[EUR][1000 genomes]
rs13081440	0.90[EUR][1000 genomes]
rs1564854	0.94[EUR][1000 genomes]
rs1872411	0.82[EUR][1000 genomes]
rs1872412	0.91[EUR][1000 genomes]
rs1872413	0.89[CHB][hapmap]
rs2171014	0.94[EUR][1000 genomes]
rs2171015	0.94[EUR][1000 genomes]
rs2200392	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2220187	0.92[EUR][1000 genomes]
rs2314615	0.93[EUR][1000 genomes]
rs2314616	0.94[EUR][1000 genomes]
rs2314617	0.93[EUR][1000 genomes]
rs2314618	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796270	0.93[EUR][1000 genomes]
rs3796271	0.93[EUR][1000 genomes]
rs4679742	0.92[CEU][hapmap];0.89[YRI][hapmap];0.93[EUR][1000 genomes]
rs6773411	0.92[EUR][1000 genomes]
rs6773566	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs978934	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9823924	0.91[CEU][hapmap];0.92[YRI][hapmap];0.94[EUR][1000 genomes]
rs9834031	0.94[EUR][1000 genomes]
rs9854587	0.92[EUR][1000 genomes]
rs9854762	0.85[CHB][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][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	nsv999994	chr3:154579254-155175303	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv532664	chr3:154588346-155162615	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1000753	chr3:154848433-155207022	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv536773	chr3:154848433-155207022	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv829762	chr3:154879350-155052986	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr3:155009200-155026600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:155012800-155021200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:155014000-155016200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:155014200-155015000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell

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