Variant report

Variant	rs221459
Chromosome Location	chr14:80115560-80115561
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs170253	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs17109638	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs17109649	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs172711	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs178351	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs1816146	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs182610	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs184347	0.89[CEU][hapmap];0.97[TSI][hapmap];0.90[EUR][1000 genomes]
rs191991	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs221436	0.91[EUR][1000 genomes]
rs221437	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs221439	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs221440	0.89[CEU][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs221442	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs221443	0.89[CEU][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs221444	0.91[EUR][1000 genomes]
rs221445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs221446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs221447	0.89[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs221448	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs221449	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs221450	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs221451	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs221452	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs221453	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs221455	0.90[CHB][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs221456	0.92[EUR][1000 genomes]
rs221457	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];0.84[GIH][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs221467	0.93[ASN][1000 genomes]
rs221468	0.92[ASN][1000 genomes]
rs221469	0.87[ASN][1000 genomes]
rs221471	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs221473	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs221474	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs221475	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs221476	0.84[CEU][hapmap]
rs221477	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs221479	0.89[CEU][hapmap]
rs221480	0.96[ASN][1000 genomes]
rs221481	0.94[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs221482	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs221483	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs221484	0.90[EUR][1000 genomes]
rs221485	0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs221486	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs221487	0.87[ASW][hapmap];0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.86[MKK][hapmap];0.84[YRI][hapmap]
rs221488	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.86[YRI][hapmap]
rs221489	0.81[ASW][hapmap];0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap]
rs221491	0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs221492	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs221493	0.83[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs221494	0.87[ASW][hapmap];0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap]
rs221497	0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs221498	0.87[ASW][hapmap];0.89[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.84[MKK][hapmap];0.94[TSI][hapmap];0.82[YRI][hapmap]
rs221499	0.88[TSI][hapmap]
rs221500	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs221501	0.84[CEU][hapmap]
rs221502	0.84[CEU][hapmap]
rs221503	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs221505	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs221507	0.84[CEU][hapmap]
rs221509	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs221510	0.83[CEU][hapmap]
rs221511	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs221512	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs221513	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs221514	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs221516	0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2543584	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55933035	0.94[ASN][1000 genomes]
rs6574516	0.80[YRI][hapmap]
rs69029	0.89[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs763478	0.86[CHD][hapmap]
rs918937	0.84[CEU][hapmap];0.94[TSI][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv511536	chr14:80098883-80115560	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3359313	chr14:80101248-80115879	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
6	nsv1370	chr14:80103510-80121890	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
7	esv3515654	chr14:80105199-80116147	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
8	esv3515649	chr14:80105549-80116047	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
9	esv3419610	chr14:80112199-80116597	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
10	esv33123	chr14:80115095-80115824	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs221459	TMED10	cis	parietal	SCAN
rs221459	PGF	cis	parietal	SCAN

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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