Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10114461..10116965-chr12:10125225..10126914,2	K562	blood:

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

rs_ID	r²[population]
rs2760953	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2922161	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2961542	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2984956	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs477751	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs478829	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs479624	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs483576	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs525013	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs526157	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs56060582	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs562627	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs562839	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs611819	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs611821	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs612227	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs612270	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs640817	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs643003	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7137254	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7953702	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7953814	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][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	nsv1044587	chr12:10029514-10123414	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv523050	chr12:10031880-10124373	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv898755	chr12:10069302-10186284	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2961535	RP11-133L14.5	cis	Nerve Tibial	GTEx
rs2961535	CLEC12A	cis	Muscle Skeletal	GTEx
rs2961535	CLEC12A	cis	Nerve Tibial	GTEx
rs2961535	CLEC12A	cis	Whole Blood	GTEx
rs2961535	RP11-133L14.5	cis	Whole Blood	GTEx
rs2961535	CLEC12B	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10114600-10117000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:10115200-10116600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr12:10115400-10116600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:10115400-10117200	Weak transcription	Primary monocytes fromperipheralblood	blood

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