Variant report

Variant	rs2718934
Chromosome Location	chr15:56557418-56557419
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:56535639..56539237-chr15:56554453..56558702,5	K562	blood:

Variant related genes	Relation type
ENSG00000151575	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10152826	0.92[CHB][hapmap]
rs10162834	0.83[CHB][hapmap]
rs10163161	0.83[CHB][hapmap]
rs10438327	0.92[CHB][hapmap]
rs11630363	0.96[CEU][hapmap]
rs11853962	0.92[CHB][hapmap]
rs11855937	0.83[CHB][hapmap]
rs11858489	0.83[CHB][hapmap]
rs12899534	0.83[CHB][hapmap]
rs12900678	0.96[CEU][hapmap];0.89[TSI][hapmap]
rs12901182	0.92[CHB][hapmap]
rs12905782	0.92[CEU][hapmap]
rs12905899	1.00[CEU][hapmap]
rs12911094	0.92[CEU][hapmap]
rs12911427	0.96[CEU][hapmap]
rs1372753	0.92[CEU][hapmap]
rs1477590	0.89[CEU][hapmap]
rs1549452	1.00[CEU][hapmap];0.87[TSI][hapmap]
rs17238691	0.91[CHB][hapmap]
rs17819438	1.00[CEU][hapmap]
rs2119937	0.92[CEU][hapmap]
rs2249090	0.92[CEU][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes]
rs2303441	1.00[CEU][hapmap]
rs2460650	1.00[CEU][hapmap]
rs2465405	0.83[CHB][hapmap]
rs2465973	0.84[EUR][1000 genomes]
rs2682050	0.83[CHB][hapmap]
rs2682051	1.00[CEU][hapmap]
rs2682054	1.00[CEU][hapmap]
rs2682059	0.87[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2713924	1.00[CEU][hapmap]
rs2713933	1.00[CEU][hapmap]
rs2713935	0.81[CEU][hapmap]
rs2713936	1.00[CEU][hapmap]
rs2713941	1.00[CEU][hapmap]
rs2718941	1.00[CEU][hapmap]
rs2725854	0.96[CEU][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs2725871	0.83[CHB][hapmap]
rs2947021	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs3784552	0.96[CEU][hapmap]
rs3817406	0.96[CEU][hapmap]
rs4310791	1.00[CEU][hapmap]
rs4310792	1.00[CEU][hapmap]
rs4774232	1.00[CEU][hapmap]
rs4774854	0.92[CHB][hapmap]
rs6493856	0.96[CEU][hapmap];0.89[TSI][hapmap]
rs6493858	0.96[CEU][hapmap];0.89[TSI][hapmap]
rs7163807	0.92[CHB][hapmap]
rs7170307	0.89[CEU][hapmap];0.82[TSI][hapmap]
rs7176107	0.80[CEU][hapmap]
rs748344	0.83[CHB][hapmap]
rs7496025	1.00[CEU][hapmap]
rs795790	0.82[CEU][hapmap];0.87[JPT][hapmap]
rs8024031	0.92[CEU][hapmap]
rs8041422	0.92[CHB][hapmap]
rs9672886	0.96[CEU][hapmap]

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	nsv833019	chr15:56486029-56649933	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv569547	chr15:56504598-56572176	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2718934	FLJ12994	cis	multi-tissue	Pritchard
rs2718934	RFX7	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:0 , 50 per page) page:

No data

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