Variant report

Variant	rs372044
Chromosome Location	chr5:52609719-52609720
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs153129	0.81[EUR][1000 genomes]
rs251519	0.87[EUR][1000 genomes]
rs251520	0.87[EUR][1000 genomes]
rs251522	0.87[EUR][1000 genomes]
rs251525	0.88[EUR][1000 genomes]
rs251528	0.83[EUR][1000 genomes]
rs252034	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs252035	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs252038	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs252040	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs252041	0.88[EUR][1000 genomes]
rs252042	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs252050	0.84[EUR][1000 genomes]
rs252051	0.84[EUR][1000 genomes]
rs27967	0.89[EUR][1000 genomes]
rs370753	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs37776	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs37777	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs37778	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs37807	0.85[EUR][1000 genomes]
rs37809	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs38055	0.83[EUR][1000 genomes]
rs38056	0.83[EUR][1000 genomes]
rs38058	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs384866	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs40230	0.89[EUR][1000 genomes]
rs40232	0.83[EUR][1000 genomes]
rs408393	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs435548	0.87[EUR][1000 genomes]
rs454737	0.84[EUR][1000 genomes]
rs454780	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs565253	0.85[EUR][1000 genomes]
rs574790	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs584593	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs626726	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs629725	0.83[AMR][1000 genomes];0.89[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	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv830297	chr5:52492494-52707758	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1020388	chr5:52607736-52637122	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv1016368	chr5:52607736-52640986	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52600200-52611800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:52608600-52609800	Enhancers	NHDF-Ad	bronchial
3	chr5:52609200-52609800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:52609400-52611800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:52609600-52610000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links