Variant report

Variant	rs10940308
Chromosome Location	chr5:52580443-52580444
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12520159	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16881189	0.80[EUR][1000 genomes]
rs17241927	0.82[AMR][1000 genomes]
rs17242584	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2406615	0.83[EUR][1000 genomes]
rs251519	0.83[AMR][1000 genomes]
rs251520	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs251522	0.81[AMR][1000 genomes]
rs251525	0.82[AMR][1000 genomes]
rs27967	0.82[AMR][1000 genomes]
rs370753	0.87[AFR][1000 genomes]
rs37807	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs40230	0.82[AMR][1000 genomes]
rs408393	0.81[AFR][1000 genomes]
rs435548	0.83[AMR][1000 genomes]
rs56296560	0.80[EUR][1000 genomes]
rs565253	0.83[AMR][1000 genomes]
rs56909170	0.81[EUR][1000 genomes]
rs574790	0.87[AFR][1000 genomes]
rs62357405	0.82[AMR][1000 genomes]
rs62357407	0.82[AMR][1000 genomes]
rs62357430	0.83[EUR][1000 genomes]
rs62357442	0.83[EUR][1000 genomes]
rs72762377	0.81[AMR][1000 genomes];0.84[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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52575600-52582800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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