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:27)

rs_ID	r²[population]
rs10877823	0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs10877832	0.83[JPT][hapmap]
rs10877836	0.83[JPT][hapmap]
rs10877840	0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs10877867	0.81[GIH][hapmap]
rs11174315	0.83[JPT][hapmap]
rs11174338	0.83[JPT][hapmap]
rs11174351	0.83[JPT][hapmap]
rs11174374	0.83[JPT][hapmap]
rs11559994	0.85[CHD][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs11564285	0.83[JPT][hapmap]
rs12230558	0.83[JPT][hapmap]
rs12810368	0.81[GIH][hapmap]
rs12827948	0.81[GIH][hapmap]
rs1319734	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2132747	0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs28370600	0.83[JPT][hapmap]
rs7136390	0.80[ASN][1000 genomes]
rs7297783	0.83[JPT][hapmap]
rs7305863	0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs7312341	0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs7316296	0.83[JPT][hapmap]
rs7960023	0.83[ASN][1000 genomes]
rs7973509	0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs7974169	0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs7976837	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980177	0.84[EUR][1000 genomes];0.95[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7966222	LRRK2	cis	cerebellum	SCAN

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	chr12:40361200-40366000	Weak transcription	NHDF-Ad	bronchial
4	chr12:40363000-40369800	Weak transcription	Psoas Muscle	Psoas
5	chr12:40364400-40391400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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