Variant report

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

rs_ID	r²[population]
rs10165455	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10176195	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10193852	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10205628	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1157474	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12466120	0.90[EUR][1000 genomes]
rs12470747	0.83[EUR][1000 genomes]
rs12473040	0.82[EUR][1000 genomes]
rs12621474	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13398039	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13415193	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13422294	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28497726	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28879825	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs55776553	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62138597	0.82[EUR][1000 genomes]
rs62138598	0.82[EUR][1000 genomes]
rs62138599	0.83[EUR][1000 genomes]
rs62138600	0.83[EUR][1000 genomes]
rs62138646	0.83[EUR][1000 genomes]
rs62139894	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73932716	0.82[EUR][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	nsv1002145	chr2:53387912-53832213	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv535718	chr2:53387912-53832213	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv874143	chr2:53499062-53643093	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv997401	chr2:53515629-53863347	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3383918	chr2:53585059-53710179	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	1 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	chr2:53623600-53624200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:53623600-53624800	Enhancers	NHEK	skin
3	chr2:53623600-53625400	Enhancers	HMEC	breast
4	chr2:53623800-53625000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:53624000-53624400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

Quick Search: