Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	12:40355227-40369361..12:40703633-40711447	GM12878	blood:

Variant related genes	Relation type
ENSG00000188906	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10506138	0.88[GIH][hapmap]
rs1086490	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs10877837	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs10877867	0.88[CHB][hapmap];0.94[ASN][1000 genomes]
rs11173862	1.00[ASW][hapmap]
rs11174292	0.88[GIH][hapmap]
rs11174370	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11174427	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs11174532	0.89[EUR][1000 genomes]
rs11174533	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174536	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11514248	0.87[EUR][1000 genomes]
rs11564282	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs12371119	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12810368	0.88[CHB][hapmap];0.85[ASN][1000 genomes]
rs12827948	0.85[ASN][1000 genomes]
rs28370607	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28370611	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs7311756	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.88[ASN][1000 genomes]
rs73280629	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs992851	1.00[ASW][hapmap];0.81[CEU][hapmap];0.88[GIH][hapmap];0.83[LWK][hapmap];0.93[MKK][hapmap];0.90[TSI][hapmap];0.87[EUR][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	nsv1046428	chr12:40226283-40439843	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv541481	chr12:40226283-40439843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1052202	chr12:40322607-40406760	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40338000-40366000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:40347800-40369800	Weak transcription	Pancreas	Pancrea
3	chr12:40348200-40361400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:40361200-40362200	Weak transcription	Fetal Kidney	kidney
5	chr12:40361200-40366000	Weak transcription	NHDF-Ad	bronchial

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