Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:59375398..59378339-chr1:59379792..59381742,2	K562	blood:
2	chr1:59246784..59250688-chr1:59376350..59380858,6	K562	blood:

Variant related genes	Relation type
ENSG00000177606	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10493253	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11207323	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11207325	0.80[EUR][1000 genomes]
rs11207326	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11207329	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11207332	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12117564	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12122077	0.82[EUR][1000 genomes]
rs12404569	0.86[EUR][1000 genomes]
rs12409909	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17118379	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2716115	0.84[ASN][1000 genomes]
rs2764915	0.82[ASN][1000 genomes]
rs2764917	0.80[ASN][1000 genomes]
rs41287666	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6587841	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6658104	0.80[EUR][1000 genomes]
rs6664131	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6677752	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6681632	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6697107	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs74078024	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7528731	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005354	chr1:59283572-59535812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv829959	chr1:59340330-59503085	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv546316	chr1:59368947-59457815	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59369800-59388200	Weak transcription	Gastric	stomach
2	chr1:59375800-59380600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:59377800-59382600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:59379600-59387800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:59380000-59384800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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