Variant report

Variant	rs221499
Chromosome Location	chr14:80087551-80087552
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs170251	0.81[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs170253	0.83[CEU][hapmap]
rs172711	0.89[EUR][1000 genomes]
rs178350	0.83[ASN][1000 genomes]
rs1816146	0.89[EUR][1000 genomes]
rs182610	0.89[EUR][1000 genomes]
rs184347	1.00[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];0.81[JPT][hapmap];0.90[MEX][hapmap];0.96[MKK][hapmap];0.91[TSI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs191991	0.89[EUR][1000 genomes]
rs221436	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs221437	0.89[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs221439	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs221440	0.89[CEU][hapmap];0.94[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];0.81[JPT][hapmap];0.91[TSI][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs221442	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs221443	0.89[CEU][hapmap];0.94[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];0.86[JPT][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs221444	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs221445	0.83[EUR][1000 genomes]
rs221446	0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs221447	0.89[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs221448	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs221449	0.89[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs221450	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs221452	0.84[EUR][1000 genomes]
rs221455	0.86[EUR][1000 genomes]
rs221456	0.84[CHB][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs221459	0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs221462	0.82[ASN][1000 genomes]
rs221463	0.83[ASN][1000 genomes]
rs221464	0.83[ASN][1000 genomes]
rs221466	0.88[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs221471	0.89[EUR][1000 genomes]
rs221474	0.85[EUR][1000 genomes]
rs221476	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs221479	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs221481	0.83[CEU][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes]
rs221482	0.89[EUR][1000 genomes]
rs221483	0.89[EUR][1000 genomes]
rs221484	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs221486	0.83[CEU][hapmap];0.88[TSI][hapmap]
rs221487	0.83[CEU][hapmap]
rs221488	0.81[CEU][hapmap]
rs221489	0.82[CEU][hapmap];0.88[TSI][hapmap]
rs221492	0.83[CEU][hapmap];0.88[TSI][hapmap]
rs221494	0.83[CEU][hapmap];0.88[TSI][hapmap]
rs221498	0.89[CEU][hapmap];0.94[TSI][hapmap]
rs221500	0.83[CEU][hapmap]
rs221501	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs221502	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs221503	0.83[CEU][hapmap]
rs221505	0.83[CEU][hapmap]
rs221507	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs221509	0.83[CEU][hapmap]
rs221510	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs221511	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs221512	0.83[CEU][hapmap];0.92[EUR][1000 genomes]
rs221513	0.83[CEU][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs221514	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2543584	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs69029	0.89[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs918937	0.92[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9323675	0.88[CHB][hapmap];0.93[CHD][hapmap];0.81[JPT][hapmap];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	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv869542	chr14:80009619-80118315	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs221499	PGF	cis	parietal	SCAN
rs221499	TMED10	cis	parietal	SCAN

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

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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