Variant report

Variant	rs8021385
Chromosome Location	chr14:81704682-81704683
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10133562	0.85[CHD][hapmap]
rs10137342	0.86[YRI][hapmap]
rs10145323	0.86[YRI][hapmap]
rs10149681	0.87[CHB][hapmap];0.98[CHD][hapmap];0.87[JPT][hapmap];0.80[MEX][hapmap];0.94[ASN][1000 genomes]
rs1035948	0.85[CEU][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs11159493	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs11159494	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[EUR][1000 genomes]
rs11625861	0.85[CEU][hapmap]
rs11850714	0.86[EUR][1000 genomes]
rs12147118	0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.93[ASN][1000 genomes]
rs12590764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1864167	0.85[CEU][hapmap];0.91[CHB][hapmap];0.82[CHD][hapmap]
rs1864169	0.91[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs1885601	0.96[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.81[GIH][hapmap];0.82[EUR][1000 genomes]
rs1951614	1.00[CEU][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs1951615	0.86[EUR][1000 genomes]
rs1951616	0.90[ASN][1000 genomes]
rs1957546	0.83[CHB][hapmap];0.95[CHD][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs1957549	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1991516	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[EUR][1000 genomes]
rs2033255	0.83[YRI][hapmap]
rs2099108	0.93[ASN][1000 genomes]
rs2241621	0.85[CEU][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap];0.82[TSI][hapmap]
rs2288497	0.83[EUR][1000 genomes]
rs2288498	0.91[ASN][1000 genomes]
rs2288499	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap];0.81[GIH][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]
rs28890880	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3815953	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap];0.81[GIH][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]
rs4363794	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61980899	0.82[EUR][1000 genomes]
rs61980900	0.83[EUR][1000 genomes]
rs6574631	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap];0.81[GIH][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs7142641	0.91[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs7144005	0.91[ASN][1000 genomes]
rs7148100	0.91[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs7149672	0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.93[ASN][1000 genomes]
rs7160569	0.85[CEU][hapmap]
rs7160599	0.86[JPT][hapmap]
rs7161073	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs759939	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[EUR][1000 genomes]
rs8004096	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8006036	0.92[ASN][1000 genomes]
rs8007841	0.87[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs8009519	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8010219	0.97[ASN][1000 genomes]
rs8011097	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014406	0.91[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs8015423	0.85[CEU][hapmap]
rs8016352	0.88[ASN][1000 genomes]
rs8016982	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs8019108	0.81[CEU][hapmap]
rs8021125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9646167	0.96[CEU][hapmap];0.91[CHB][hapmap]
rs9806020	0.83[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs9806027	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9944085	0.81[CEU][hapmap]

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	nsv832841	chr14:81588322-81743921	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases
2	nsv902118	chr14:81679650-81715989	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	84 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8021385	GTF2A1	cis	multi-tissue	Pritchard
rs8021385	STON2	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81688200-81704800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:81704400-81705400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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