Variant report

Variant	rs221457
Chromosome Location	chr14:80116833-80116834
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs170253	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs17109638	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs17109649	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs172711	0.93[ASN][1000 genomes]
rs178351	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs1816146	0.93[ASN][1000 genomes]
rs182610	0.93[ASN][1000 genomes]
rs191991	0.93[ASN][1000 genomes]
rs221445	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs221446	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs221451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs221452	0.97[ASN][1000 genomes]
rs221453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs221455	0.90[CHB][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs221459	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs221465	0.90[CHB][hapmap];0.97[CHD][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs221467	0.92[ASN][1000 genomes]
rs221468	0.91[ASN][1000 genomes]
rs221469	0.86[ASN][1000 genomes]
rs221471	0.97[ASN][1000 genomes]
rs221473	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs221474	0.84[ASN][1000 genomes]
rs221475	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs221477	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs221480	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs221481	0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs221482	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs221483	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs221485	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs221486	0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs221487	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs221488	0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs221489	0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs221491	0.91[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs221492	0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs221493	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs221494	0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs221497	0.91[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs221498	0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs221500	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs221503	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs221505	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs221509	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs221511	0.91[ASN][1000 genomes]
rs221512	0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs221513	0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs221516	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2543584	0.86[ASN][1000 genomes]
rs55933035	0.96[ASN][1000 genomes]
rs763478	0.86[CHD][hapmap];0.86[TSI][hapmap]
rs9323675	0.80[CEU][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv1370	chr14:80103510-80121890	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80113200-80135400	Weak transcription	Stomach Smooth Muscle	stomach

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