Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:40597517..40600322-chr12:40605533..40608551,3	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17489344	1.00[AMR][1000 genomes]
rs17489764	1.00[AMR][1000 genomes]
rs17490062	1.00[AMR][1000 genomes]
rs17490397	1.00[AMR][1000 genomes]
rs17518532	1.00[AMR][1000 genomes]
rs17518910	1.00[AMR][1000 genomes]
rs17519034	1.00[AMR][1000 genomes]
rs2252434	0.85[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2256286	0.84[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2256408	0.85[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2638273	0.85[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2708429	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2708433	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2708439	0.85[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2708440	0.83[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2723266	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2723267	0.85[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2723273	0.85[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370761	1.00[AMR][1000 genomes]
rs28370790	1.00[AMR][1000 genomes]
rs28370793	1.00[AMR][1000 genomes]
rs7978216	1.00[AMR][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	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1052661	chr12:40603049-40642812	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40604200-40609200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr12:40604200-40611000	Weak transcription	Fetal Kidney	kidney
3	chr12:40604400-40609400	Weak transcription	Hela-S3	cervix
4	chr12:40605200-40610400	Weak transcription	A549	lung
5	chr12:40605800-40609000	Weak transcription	Monocytes-CD14+_RO01746	blood

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