Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:166649321..166652229-chr1:166657244..166659747,3	K562	blood:
2	chr1:166649643..166651708-chr1:166806859..166808634,2	MCF-7	breast:
3	chr1:166645312..166647328-chr1:166649340..166651227,2	K562	blood:
4	chr1:166646941..166649899-chr1:166808639..166811427,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143157	Chromatin interaction

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

rs_ID	r²[population]
rs10918540	0.81[ASN][1000 genomes]
rs10918541	0.81[ASN][1000 genomes]
rs11584519	0.89[ASN][1000 genomes]
rs12027513	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12028885	0.81[EUR][1000 genomes]
rs12030491	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12033500	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12036000	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12046226	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12048648	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12060217	0.81[ASN][1000 genomes]
rs12093588	0.84[ASN][1000 genomes]
rs2184662	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3845545	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55872343	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56164733	0.89[AMR][1000 genomes]
rs61670955	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6670455	0.81[ASN][1000 genomes]
rs72701393	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72701401	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7546913	0.81[ASN][1000 genomes]
rs7548967	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv2757759	chr1:166491879-166650985	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2758975	chr1:166491879-166650985	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2752389	chr1:166625342-166706342	Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv947550	chr1:166647096-166673303	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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