Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:60591422..60593897-chr12:60595165..60597772,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10735884	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10747871	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10784021	0.85[AMR][1000 genomes]
rs10784043	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10877379	0.85[AMR][1000 genomes]
rs10877382	0.85[AMR][1000 genomes]
rs10877384	0.85[AMR][1000 genomes]
rs10877400	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10877411	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1116481	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1354468	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1493307	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1602840	0.80[YRI][hapmap];0.90[AFR][1000 genomes]
rs1910675	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2364149	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2364701	0.85[AMR][1000 genomes]
rs3912932	0.83[YRI][hapmap]
rs4283019	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4468382	0.80[YRI][hapmap]
rs4519125	0.85[AMR][1000 genomes]
rs4531510	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6581292	0.85[AMR][1000 genomes]
rs7298350	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7299084	0.85[AMR][1000 genomes]
rs7301616	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7970971	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428591	chr12:60446360-60631044	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv899137	chr12:60568891-60797083	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv973964	chr12:60590829-60598024	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60586000-60603400	Weak transcription	HMEC	breast
2	chr12:60589200-60598200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:60592200-60599000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:60595800-60600200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:60596000-60597800	Weak transcription	NHLF	lung
6	chr12:60596600-60599200	Weak transcription	Fetal Heart	heart
7	chr12:60596800-60597400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:60597200-60599000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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