Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:72378701..72381631-chr2:72382002..72385410,3	K562	blood:
2	chr2:72377204..72379877-chr2:72380463..72383459,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10166057	0.85[ASN][1000 genomes]
rs10202129	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs13407599	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2901091	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3768638	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3768639	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3768641	1.00[JPT][hapmap]
rs62150093	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62150094	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62150096	0.88[EUR][1000 genomes]
rs6546745	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6546746	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546747	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546748	1.00[ASN][1000 genomes]
rs6710195	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6710373	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6738598	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7557210	0.98[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7596302	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9309462	1.00[JPT][hapmap];0.80[EUR][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	nsv582207	chr2:72329603-72389334	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72378000-72382600	Weak transcription	Fetal Heart	heart
2	chr2:72381600-72382600	Bivalent Enhancer	Fetal Stomach	stomach
3	chr2:72381600-72386600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:72382000-72383200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:72382400-72382600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:72382400-72383000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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