Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172037922..172040353-chr2:172040710..172043498,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10171850	1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10183909	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10204062	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1035827	1.00[CHB][hapmap]
rs11696064	1.00[CHB][hapmap]
rs12467411	0.81[CHB][hapmap]
rs12473741	0.95[CHB][hapmap]
rs12477649	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs12618898	0.91[CHB][hapmap]
rs13410683	0.95[CHB][hapmap]
rs16859157	0.82[CHB][hapmap]
rs1863679	0.86[CHB][hapmap]
rs1989613	0.86[CHB][hapmap]
rs3731993	0.82[CHB][hapmap]
rs3770419	0.87[CHB][hapmap]
rs4667673	0.91[CHB][hapmap]
rs728455	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7421377	1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs754058	1.00[CHB][hapmap]
rs7560360	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7582822	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7594071	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs930035	0.95[CHB][hapmap]
rs930036	1.00[CHB][hapmap]
rs964172	0.95[CHB][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	nsv522291	chr2:172034918-172043803	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6433282	TLK1	Cis_1M	lymphoblastoid	RTeQTL
rs6433282	TLK1	cis	lesional skin	skin_eQTL
rs6433282	TLK1	cis	normal skin	skin_eQTL
rs6433282	TLK1	cis	uninvolved skin	skin_eQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172037200-172041800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:172038400-172041800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:172038400-172042000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:172038600-172041600	Weak transcription	NHDF-Ad	bronchial
5	chr2:172038600-172041800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:172038800-172041800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:172038800-172042200	Weak transcription	NHEK	skin
8	chr2:172039000-172042000	Weak transcription	K562	blood

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