Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:48392370..48394722-chr12:48397446..48401400,3	K562	blood:
2	chr12:48399203..48400811-chr12:48412734..48415114,2	K562	blood:
3	chr12:48392370..48394865-chr12:48396464..48400282,3	K562	blood:
4	chr12:48399203..48401006-chr12:48440249..48442960,2	K562	blood:

Variant related genes	Relation type
ENSG00000139219	Chromatin interaction

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10875714	0.88[EUR][1000 genomes]
rs10875715	0.86[EUR][1000 genomes]
rs10875750	0.82[YRI][hapmap]
rs11168355	1.00[YRI][hapmap]
rs11168357	1.00[YRI][hapmap]
rs11168369	0.83[YRI][hapmap]
rs11168414	0.82[YRI][hapmap]
rs11168427	0.82[YRI][hapmap]
rs11168433	0.82[YRI][hapmap]
rs12228854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12304476	0.82[YRI][hapmap]
rs12306451	0.82[YRI][hapmap]
rs12308909	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12721420	0.85[CEU][hapmap]
rs17122666	0.82[YRI][hapmap]
rs1990028	0.80[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes]
rs2213162	0.95[CHB][hapmap]
rs2213163	0.90[CHB][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2226946	0.95[CHB][hapmap]
rs2228500	0.82[YRI][hapmap]
rs2269935	0.82[YRI][hapmap]
rs2269936	0.83[YRI][hapmap]
rs2898056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3737548	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3782910	0.83[YRI][hapmap]
rs3782915	0.88[EUR][1000 genomes]
rs3809324	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760695	0.82[YRI][hapmap]
rs56037230	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56959315	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs740022	0.89[EUR][1000 genomes]
rs886588	0.82[YRI][hapmap]
rs989144	0.83[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs3809322	RP1-228P16.1	cis	Heart Left Ventricle	GTEx
rs3809322	RP1-228P16.1	cis	Adipose Subcutaneous	GTEx
rs3809322	ZNF641	cis	Muscle Skeletal	GTEx
rs3809322	RP1-228P16.1	cis	Skin Sun Exposed Lower leg	GTEx
rs3809322	RP1-228P16.1	cis	Thyroid	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48399000-48400200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:48399200-48400200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:48399400-48415000	Weak transcription	Right Atrium	heart

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