Variant report

No.	Distal block	Cell Line	Cell type
1	chr11:113305667..113307415-chr11:113325184..113328085,2	K562	blood:
2	chr11:113304576..113307222-chr11:113336806..113338535,2	MCF-7	breast:
3	chr11:113299352..113300914-chr11:113306077..113308061,2	K562	blood:
4	chr11:113306892..113309143-chr11:113347013..113349045,2	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1003641	0.86[JPT][hapmap]
rs1076562	0.94[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11214598	0.81[JPT][hapmap]
rs1124493	0.86[JPT][hapmap]
rs17115583	0.87[JPT][hapmap]
rs2002453	0.94[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2005313	0.94[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2245805	0.94[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2471850	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2471856	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2511521	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2587550	0.86[JPT][hapmap]
rs2734841	0.87[JPT][hapmap]
rs2859545	0.85[JPT][hapmap]
rs4436578	0.87[JPT][hapmap]
rs4620755	0.87[JPT][hapmap]
rs4648318	0.94[CEU][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4938016	0.82[JPT][hapmap]
rs6275	0.86[JPT][hapmap]
rs6276	0.87[JPT][hapmap]
rs6279	0.87[JPT][hapmap]
rs7103679	0.80[CHB][hapmap]
rs7125415	0.83[JPT][hapmap]
rs7350522	0.80[CHB][hapmap]

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	nsv556444	chr11:113234432-113383394	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv898394	chr11:113298339-113341391	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
3	esv1821565	chr11:113306765-113331532	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4586205	TTC12	cis	lesional skin	skin_eQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:113300800-113313200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:113306200-113307800	Enhancers	Adipose Nuclei	Adipose
3	chr11:113306400-113307200	Enhancers	HMEC	breast
4	chr11:113306800-113307200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:113306800-113307800	Weak transcription	Brain Anterior Caudate	brain
6	chr11:113307000-113307400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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