Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99057312..99059712-chr8:99064427..99067887,3	K562	blood:

Variant related genes	Relation type
ENSG00000156482	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10088117	0.90[YRI][hapmap]
rs10093417	0.82[ASN][1000 genomes]
rs13439751	0.84[YRI][hapmap]
rs1378122	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1454713	0.81[JPT][hapmap]
rs2010016	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2061052	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2255317	0.89[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.81[ASN][1000 genomes]
rs2331692	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2444857	0.88[JPT][hapmap]
rs2444859	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2444866	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2444885	0.97[ASN][1000 genomes]
rs2444894	0.83[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs2444898	0.89[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.83[ASN][1000 genomes]
rs2447488	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2513806	0.83[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs2513808	0.82[ASN][1000 genomes]
rs2513815	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2513819	0.99[ASN][1000 genomes]
rs2513823	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2959642	0.81[ASN][1000 genomes]
rs73701230	0.81[AFR][1000 genomes]
rs748324	0.89[CHB][hapmap];0.94[JPT][hapmap];0.83[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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv465745	chr8:99061992-99116201	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv611805	chr8:99061992-99116201	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99059200-99070800	Weak transcription	A549	lung
2	chr8:99059200-99071000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:99059400-99076200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:99064800-99076400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:99066200-99067000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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