Variant report

Variant	rs221486
Chromosome Location	chr14:80094078-80094079
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:75411249..75412759-chr14:80091668..80094082,2	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs170253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17109638	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17109649	0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs172711	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs178351	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1816146	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs182610	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs184347	0.84[CEU][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs191991	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs221436	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs221437	0.84[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs221439	0.86[EUR][1000 genomes]
rs221440	0.84[CEU][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes]
rs221442	0.84[EUR][1000 genomes]
rs221443	0.84[CEU][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs221444	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs221445	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs221446	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs221447	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs221448	0.86[EUR][1000 genomes]
rs221449	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs221450	0.86[EUR][1000 genomes]
rs221451	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs221452	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs221453	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs221455	0.93[JPT][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs221456	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs221457	0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs221459	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];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs221465	0.97[CHD][hapmap];0.81[GIH][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs221467	0.89[ASN][1000 genomes]
rs221468	0.88[ASN][1000 genomes]
rs221469	0.83[ASN][1000 genomes]
rs221471	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs221473	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[ASN][1000 genomes]
rs221474	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs221475	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs221477	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs221479	0.84[CEU][hapmap]
rs221480	1.00[ASN][1000 genomes]
rs221481	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs221482	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs221483	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs221484	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs221485	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs221487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs221488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs221489	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs221491	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs221492	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs221493	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs221494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs221497	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs221498	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap]
rs221499	0.83[CEU][hapmap];0.88[TSI][hapmap]
rs221500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs221501	0.89[CEU][hapmap]
rs221502	0.89[CEU][hapmap]
rs221503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs221505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs221507	0.89[CEU][hapmap]
rs221509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs221510	0.89[CEU][hapmap]
rs221511	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs221512	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs221513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs221514	0.89[CEU][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs221516	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2543584	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55933035	0.90[ASN][1000 genomes]
rs69029	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs763478	0.86[CHD][hapmap]
rs918937	0.89[CEU][hapmap];0.94[TSI][hapmap];0.89[EUR][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs221486	PGF	cis	parietal	SCAN

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

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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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