Variant report

Variant	rs2972689
Chromosome Location	chr5:112945966-112945967
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10053341	0.84[CEU][hapmap];0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs10056194	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10065790	0.89[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10071684	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10072503	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10077431	0.84[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10078214	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11241213	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13169748	0.84[EUR][1000 genomes]
rs13171630	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13174075	0.89[CEU][hapmap];1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs13182972	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13362189	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13436825	0.81[ASN][1000 genomes]
rs17331844	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17388260	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs17389165	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1816062	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2162841	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2248930	0.86[CHB][hapmap]
rs2914198	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972690	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33992630	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34147627	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34324763	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348928	0.86[CHB][hapmap]
rs348929	0.86[CHB][hapmap]
rs348930	0.86[CHB][hapmap]
rs348931	0.86[CHB][hapmap]
rs348932	0.86[CHB][hapmap]
rs348947	0.86[CHB][hapmap]
rs348956	0.86[CHB][hapmap]
rs348961	0.86[CHB][hapmap]
rs348962	0.86[CHB][hapmap]
rs348963	0.86[CHB][hapmap]
rs35093510	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35193208	0.84[EUR][1000 genomes]
rs35926701	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35933960	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36023163	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs367943	0.86[CHB][hapmap]
rs444322	0.86[CHB][hapmap]
rs455435	0.86[CHB][hapmap]
rs460079	0.86[CHB][hapmap]
rs463167	0.86[CHB][hapmap]
rs463249	0.86[CHB][hapmap]
rs644154	0.86[CHB][hapmap]
rs66540465	0.83[EUR][1000 genomes]
rs66572866	0.85[ASN][1000 genomes]
rs67320720	0.85[ASN][1000 genomes]
rs6867579	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6871934	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs6872490	0.81[ASN][1000 genomes]
rs6879257	0.84[EUR][1000 genomes]
rs6883102	1.00[CHB][hapmap]
rs6883547	1.00[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6890874	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs71577448	0.85[ASN][1000 genomes]
rs72792189	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7706721	0.94[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7708831	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7718203	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8180416	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9326890	0.89[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9326891	0.89[CEU][hapmap];0.82[EUR][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	nsv882721	chr5:112859994-112963488	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv1033202	chr5:112891857-112945992	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	esv2752057	chr5:112916398-112945992	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv1029507	chr5:112916398-112945992	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	esv2763910	chr5:112916398-112951827	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv1031336	chr5:112916398-112956588	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv4961	chr5:112945908-112991152	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112944200-112949000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:112944400-112950000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:112944400-112950000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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