Variant report

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

rs_ID	r²[population]
rs10494919	0.93[EUR][1000 genomes]
rs1507333	0.86[EUR][1000 genomes]
rs17188030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17260224	0.87[CEU][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17260245	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2055700	0.86[EUR][1000 genomes]
rs2800930	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs4504891	0.84[EUR][1000 genomes]
rs59658508	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6661882	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6671102	0.89[EUR][1000 genomes]
rs6673758	0.81[AMR][1000 genomes]
rs6681844	0.84[EUR][1000 genomes]
rs6687960	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73085919	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73085921	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73085926	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73085932	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73085944	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73085950	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs906352	0.83[EUR][1000 genomes]
rs949488	0.86[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	nsv832481	chr1:209371276-209540333	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv1008555	chr1:209409577-209416496	Strong transcription Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7533402	SNORD116-29	trans	lymphoblastoid	seeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209409800-209422200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:209411600-209412000	Enhancers	HMEC	breast
3	chr1:209411600-209412200	Enhancers	NHEK	skin
4	chr1:209411600-209412400	Enhancers	HUVEC	blood vessel

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