Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:4742875..4745464-chr6:4746219..4749155,2	K562	blood:
2	chr6:4740877..4743157-chr6:4743622..4745166,2	MCF-7	breast:
3	chr6:4733392..4734998-chr6:4742508..4744758,2	MCF-7	breast:
4	chr6:4742191..4744161-chr6:4747870..4749647,2	MCF-7	breast:

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

rs_ID	r²[population]
rs35640627	0.81[ASN][1000 genomes]
rs6920511	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6931832	0.92[CHB][hapmap];0.89[JPT][hapmap]
rs6932591	0.81[ASN][1000 genomes]
rs6937790	0.92[CHB][hapmap];0.89[JPT][hapmap]
rs6941758	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs907841	0.81[ASN][1000 genomes]
rs9328272	0.92[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs9328273	0.81[ASN][1000 genomes]
rs9328274	0.81[ASN][1000 genomes]
rs9378411	0.84[CHB][hapmap];0.83[JPT][hapmap]
rs9378910	0.92[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs9392631	0.92[CHB][hapmap];0.89[JPT][hapmap]
rs9392632	0.92[CHB][hapmap];0.88[JPT][hapmap]
rs9392634	0.81[ASN][1000 genomes]
rs9392635	0.92[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs9405771	0.92[CHB][hapmap];0.89[JPT][hapmap]
rs9405772	0.92[CHB][hapmap];0.88[JPT][hapmap]
rs9405773	0.92[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs9405774	0.92[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv3429586	chr6:4719363-4792438	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1017938	chr6:4729592-4774914	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4741600-4744400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:4741800-4744400	Enhancers	NHEK	skin
3	chr6:4742000-4744400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:4743000-4744800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:4743400-4744000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:4743400-4744800	Enhancers	Fetal Intestine Large	intestine
7	chr6:4743600-4745000	Enhancers	Fetal Intestine Small	intestine

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