Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:50122266..50124004-chr2:50125088..50127859,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10495987	0.88[CHD][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs12465974	0.88[ASN][1000 genomes]
rs12621581	0.86[JPT][hapmap]
rs12998574	0.84[ASW][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];0.92[MEX][hapmap];0.81[MKK][hapmap];0.85[TSI][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1363046	0.81[JPT][hapmap]
rs1421586	0.86[JPT][hapmap]
rs1421594	0.81[JPT][hapmap]
rs1592729	0.82[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17039564	0.86[JPT][hapmap]
rs17039573	0.82[JPT][hapmap]
rs17039575	0.86[JPT][hapmap]
rs3850356	0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4461296	0.91[CHB][hapmap];0.91[JPT][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6545136	0.86[ASN][1000 genomes]
rs6713560	0.81[JPT][hapmap]
rs6713940	0.81[JPT][hapmap]
rs725323	0.86[JPT][hapmap]
rs7573698	0.81[JPT][hapmap]
rs7574241	0.81[JPT][hapmap]
rs9679140	0.86[JPT][hapmap]
rs971732	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1156742	KLRAQ1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50125400-50126600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

Quick Search: