Variant report

Variant	rs1812678
Chromosome Location	chr8:68432437-68432438
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:68431522..68433668-chr8:68435634..68437252,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10957389	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11984622	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11994817	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12115004	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1393895	1.00[MEX][hapmap]
rs1393897	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1566769	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16933341	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1847292	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3824270	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4386963	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57070848	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57097218	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57185404	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57312956	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57714056	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57836294	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58637111	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59607772	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60606572	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61142861	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61220075	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61679446	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6472300	1.00[JPT][hapmap]
rs6472301	1.00[JPT][hapmap]
rs6472303	1.00[JPT][hapmap]
rs6472306	1.00[JPT][hapmap]
rs6472307	1.00[JPT][hapmap]
rs6472308	1.00[JPT][hapmap]
rs6472314	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6472318	1.00[MEX][hapmap]
rs6651314	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7003223	1.00[MEX][hapmap]
rs7005010	1.00[JPT][hapmap]
rs7009065	1.00[JPT][hapmap]
rs7014010	1.00[MEX][hapmap]
rs7018199	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73262665	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73262669	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73262675	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73262680	0.94[EUR][1000 genomes]
rs73262681	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73262685	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73262686	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73262688	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73262691	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73262695	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73262696	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73264707	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73264769	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73264774	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73264780	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73264784	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73264792	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73264794	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7815213	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7824691	1.00[JPT][hapmap]
rs7839073	1.00[JPT][hapmap]
rs7842960	1.00[JPT][hapmap]
rs7843818	1.00[JPT][hapmap]
rs966593	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs966594	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024135	chr8:68235792-68629789	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv539642	chr8:68235792-68629789	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2752264	chr8:68244546-68647201	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68424800-68434200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:68424800-68435000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:68432000-68433400	Weak transcription	HMEC	breast
4	chr8:68432200-68433400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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