Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54985673..54988150-chr2:54994047..54996597,3	K562	blood:
2	chr2:54992606..54995147-chr2:54997836..54999443,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11125544	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11678461	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11683128	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11690558	0.84[ASN][1000 genomes]
rs11691922	0.93[ASN][1000 genomes]
rs11891165	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11897031	0.84[ASN][1000 genomes]
rs11899655	0.97[ASN][1000 genomes]
rs11901245	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12613164	0.95[ASN][1000 genomes]
rs12622172	0.89[ASN][1000 genomes]
rs17046310	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17521852	0.97[ASN][1000 genomes]
rs35559436	0.94[ASN][1000 genomes]
rs56320255	0.93[ASN][1000 genomes]
rs58350716	0.96[ASN][1000 genomes]
rs6709473	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6713115	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6761960	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs72915588	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72917512	0.93[ASN][1000 genomes]
rs72917514	1.00[EUR][1000 genomes];0.96[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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv1844855	chr2:54987215-55012202	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54985800-54995400	Weak transcription	Primary B cells from cord blood	blood
2	chr2:54992000-54994600	Weak transcription	HMEC	breast
3	chr2:54992200-54998600	Weak transcription	Fetal Brain Female	brain
4	chr2:54993400-54995600	Enhancers	NHEK	skin
5	chr2:54993600-54996600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:54994200-54995200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:54994200-54995600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:54994200-54995600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:54994200-54995600	Enhancers	Hela-S3	cervix

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