Variant report

Variant	rs7165270
Chromosome Location	chr15:56373519-56373520
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11629483	0.87[EUR][1000 genomes]
rs11631191	0.87[EUR][1000 genomes]
rs12905899	1.00[CEU][hapmap];0.84[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12907263	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12911094	0.92[CEU][hapmap];0.83[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12911427	0.96[CEU][hapmap];0.84[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12914260	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12914640	0.80[AMR][1000 genomes]
rs1372753	0.92[CEU][hapmap];0.83[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1442640	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1829542	0.81[EUR][1000 genomes]
rs2119937	0.92[CEU][hapmap];0.84[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2249090	0.92[CEU][hapmap]
rs2414464	0.81[EUR][1000 genomes]
rs2460647	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2460650	1.00[CEU][hapmap]
rs2682044	0.81[EUR][1000 genomes]
rs2682051	1.00[CEU][hapmap]
rs2682053	0.80[CEU][hapmap]
rs2682054	1.00[CEU][hapmap]
rs2682059	0.96[CEU][hapmap]
rs2713924	1.00[CEU][hapmap];0.80[AMR][1000 genomes]
rs2713933	1.00[CEU][hapmap]
rs2713935	0.82[CEU][hapmap]
rs2713936	1.00[CEU][hapmap]
rs2713938	0.82[EUR][1000 genomes]
rs2713941	1.00[CEU][hapmap];0.84[JPT][hapmap];0.83[EUR][1000 genomes]
rs2718934	1.00[CEU][hapmap]
rs2718941	1.00[CEU][hapmap];0.84[JPT][hapmap]
rs2725870	0.84[EUR][1000 genomes]
rs2947021	0.92[CEU][hapmap]
rs34044869	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34144128	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34224072	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34386737	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35082998	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35722267	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35749329	0.87[EUR][1000 genomes]
rs35972806	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4310791	1.00[CEU][hapmap];0.83[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4310792	1.00[CEU][hapmap];0.83[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4774231	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4774232	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4774847	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59432349	0.87[EUR][1000 genomes]
rs62044082	0.89[EUR][1000 genomes]
rs62044110	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62044111	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6493834	0.94[ASN][1000 genomes]
rs6493835	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7168319	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7174823	0.86[EUR][1000 genomes]
rs7175745	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7176107	0.80[CEU][hapmap]
rs7496025	1.00[CEU][hapmap];0.83[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8024031	0.92[CEU][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8028353	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8029114	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8032242	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8033653	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9672886	0.96[CEU][hapmap];0.83[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9672928	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761872	chr15:56211065-56426501	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv833018	chr15:56325799-56492535	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1045906	chr15:56333180-56473614	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7165270	RFX7	cis	Skin Sun Exposed Lower leg	GTEx
rs7165270	RFX7	cis	Adipose Subcutaneous	GTEx
rs7165270	FLJ12994	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56363600-56383800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr15:56369800-56385600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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