Variant report

Variant	rs221440
Chromosome Location	chr14:80128753-80128754
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10483929	0.81[YRI][hapmap]
rs170251	0.87[CHB][hapmap];0.80[ASN][1000 genomes]
rs170253	0.84[CEU][hapmap]
rs17109638	0.89[CEU][hapmap]
rs172711	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs178350	0.80[ASN][1000 genomes]
rs1816146	0.88[EUR][1000 genomes]
rs182610	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs184347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs191991	0.87[EUR][1000 genomes]
rs221436	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs221437	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs221439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs221442	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs221443	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs221444	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs221445	0.89[CEU][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs221446	0.93[ASW][hapmap];0.89[CEU][hapmap];0.98[LWK][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs221447	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs221448	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs221449	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs221450	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs221452	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs221455	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs221456	0.89[CHB][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs221459	0.89[CEU][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs221462	0.81[ASN][1000 genomes]
rs221463	0.80[ASN][1000 genomes]
rs221464	0.80[ASN][1000 genomes]
rs221466	0.94[CHB][hapmap];0.80[ASN][1000 genomes]
rs221471	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs221474	0.84[EUR][1000 genomes]
rs221475	0.84[CEU][hapmap]
rs221476	0.95[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap]
rs221479	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap]
rs221481	0.89[CEU][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs221482	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs221483	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs221484	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs221486	0.84[CEU][hapmap];0.97[TSI][hapmap]
rs221487	0.84[CEU][hapmap]
rs221488	0.83[CEU][hapmap]
rs221489	0.84[CEU][hapmap];0.97[TSI][hapmap]
rs221492	0.84[CEU][hapmap];0.97[TSI][hapmap]
rs221494	0.84[CEU][hapmap];0.97[TSI][hapmap]
rs221498	0.91[TSI][hapmap]
rs221499	0.89[CEU][hapmap];0.94[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];0.81[JPT][hapmap];0.91[TSI][hapmap]
rs221500	0.84[CEU][hapmap]
rs221501	0.95[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap]
rs221502	0.95[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap]
rs221503	0.84[CEU][hapmap]
rs221505	0.84[CEU][hapmap]
rs221507	0.95[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap]
rs221509	0.84[CEU][hapmap]
rs221510	0.95[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap]
rs221511	0.85[EUR][1000 genomes]
rs221512	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs221513	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs221514	0.95[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2543584	0.84[EUR][1000 genomes]
rs69029	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs918937	0.95[CEU][hapmap];0.94[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];0.81[JPT][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9323675	0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs221440	PGF	cis	parietal	SCAN
rs221440	TMED10	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80113200-80135400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:80126200-80130800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr14:80126800-80131000	Weak transcription	Brain Substantia Nigra	brain
4	chr14:80128200-80128800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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