Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:68041839..68044981-chr12:68337420..68341334,5	MCF-7	breast:
2	chr12:68330507..68333392-chr12:68338678..68341151,2	K562	blood:

Variant related genes	Relation type
ENSG00000127334	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10735943	0.94[ASW][hapmap];0.80[LWK][hapmap];0.86[YRI][hapmap]
rs10784659	0.91[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs10878702	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10878705	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10878717	0.92[AFR][1000 genomes]
rs11176957	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11176958	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11176965	0.88[AFR][1000 genomes]
rs12228138	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1548650	0.94[AFR][1000 genomes]
rs1548651	0.94[AFR][1000 genomes]
rs1905452	0.94[AFR][1000 genomes]
rs2097999	0.86[AFR][1000 genomes]
rs2190735	0.92[AFR][1000 genomes]
rs2870964	0.92[AFR][1000 genomes]
rs4141136	0.81[AFR][1000 genomes]
rs4913266	0.91[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4913378	0.98[ASN][1000 genomes]
rs4913386	0.93[AFR][1000 genomes]
rs56229556	0.91[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6581784	0.96[AFR][1000 genomes]
rs7310108	0.93[AFR][1000 genomes]
rs7311772	0.86[MKK][hapmap];0.83[YRI][hapmap]
rs7954182	0.93[AFR][1000 genomes]
rs7959275	0.88[YRI][hapmap]
rs7979547	0.96[AFR][1000 genomes]
rs7980416	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[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	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv899219	chr12:68293419-68353649	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7312407	AVPR1A	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68336800-68341000	Weak transcription	Psoas Muscle	Psoas
2	chr12:68340200-68340400	Enhancers	Fetal Muscle Leg	muscle

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