Variant report

Variant	rs4495409
Chromosome Location	chr8:67017149-67017150
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	chr8:67015269..67017296-chr8:67024830..67026727,2	MCF-7	breast:
2	chr8:67016508..67023104-chr8:67024672..67027865,9	K562	blood:

Variant related genes	Relation type
ENSG00000253190	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10092687	0.94[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10093091	0.86[YRI][hapmap]
rs10095931	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10099957	0.85[GIH][hapmap]
rs10101457	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10104916	0.89[ASW][hapmap];0.85[GIH][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes]
rs10109602	0.85[GIH][hapmap]
rs10113208	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10113415	0.91[CEU][hapmap]
rs11986216	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs11986805	0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988053	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993015	1.00[ASN][1000 genomes]
rs11997416	0.86[YRI][hapmap]
rs11997605	0.91[CEU][hapmap]
rs12334408	0.94[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13264487	0.91[CEU][hapmap]
rs13266516	0.91[CEU][hapmap]
rs16932426	1.00[CHB][hapmap]
rs16932461	1.00[CHB][hapmap]
rs16932465	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs16932468	1.00[CHB][hapmap]
rs16932514	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932544	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16932564	0.85[GIH][hapmap]
rs17306183	1.00[CHB][hapmap]
rs17307227	1.00[CHB][hapmap]
rs2357570	1.00[CHB][hapmap]
rs2357571	1.00[CHB][hapmap]
rs2357669	1.00[ASN][1000 genomes]
rs28364018	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs3176921	0.83[ASW][hapmap];0.85[GIH][hapmap];0.86[YRI][hapmap]
rs4262310	0.91[CEU][hapmap]
rs4366069	0.94[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4380923	1.00[CHB][hapmap]
rs4495411	1.00[CHB][hapmap]
rs4496952	1.00[ASN][1000 genomes]
rs4565445	1.00[CHB][hapmap]
rs5030877	0.86[YRI][hapmap]
rs56409403	1.00[ASN][1000 genomes]
rs56981664	1.00[ASN][1000 genomes]
rs59142644	1.00[ASN][1000 genomes]
rs6472245	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap]
rs6472248	0.91[CEU][hapmap]
rs6472249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472251	0.94[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472254	0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs6472255	0.86[YRI][hapmap]
rs6472256	0.86[YRI][hapmap]
rs6985796	1.00[CHB][hapmap]
rs6988195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990624	0.86[YRI][hapmap]
rs6996265	0.86[YRI][hapmap]
rs6998761	0.89[ASW][hapmap];0.85[GIH][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes]
rs6999780	0.85[GIH][hapmap]
rs7006334	1.00[CHB][hapmap]
rs7006394	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap]
rs7006903	0.85[GIH][hapmap]
rs7008359	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008578	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013524	0.83[ASW][hapmap];0.85[GIH][hapmap];0.86[YRI][hapmap]
rs73246516	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246529	1.00[ASN][1000 genomes]
rs73246531	1.00[ASN][1000 genomes]
rs73246553	1.00[ASN][1000 genomes]
rs73691300	1.00[ASN][1000 genomes]
rs7814933	1.00[CHB][hapmap]
rs7818219	1.00[CHB][hapmap]
rs7818902	0.85[YRI][hapmap];0.83[AFR][1000 genomes]
rs7820617	0.85[GIH][hapmap]
rs7822243	0.89[ASW][hapmap];0.85[GIH][hapmap];0.86[YRI][hapmap]
rs7824630	0.91[CEU][hapmap]
rs7826464	0.86[YRI][hapmap]
rs7827531	0.91[CEU][hapmap]
rs7830926	0.88[AFR][1000 genomes]
rs7831234	0.85[GIH][hapmap]
rs7834423	0.94[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835948	0.89[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.84[LWK][hapmap];0.93[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836993	1.00[CHB][hapmap]
rs7838500	0.86[YRI][hapmap];0.83[AFR][1000 genomes]
rs7842707	0.83[ASW][hapmap];0.86[YRI][hapmap]
rs7842761	0.89[ASW][hapmap];0.85[GIH][hapmap];0.86[YRI][hapmap]
rs7843038	0.85[GIH][hapmap]
rs7843077	0.84[CEU][hapmap]
rs7843605	0.86[YRI][hapmap];0.83[AFR][1000 genomes]
rs7845334	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884839	0.91[CEU][hapmap]
rs9298110	0.84[CEU][hapmap]
rs9694082	0.89[ASW][hapmap];0.85[GIH][hapmap];0.86[YRI][hapmap];0.80[AFR][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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4495409	ADHFE1	cis	parietal	SCAN
rs4495409	ADHFE1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67014400-67017400	Weak transcription	K562	blood

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