Variant report

Variant	rs6722571
Chromosome Location	chr2:39810032-39810033
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11680972	0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11686518	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs13031765	0.82[EUR][1000 genomes]
rs34677610	0.82[EUR][1000 genomes]
rs4992380	0.93[EUR][1000 genomes]
rs6544235	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7597939	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7605812	0.80[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh 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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39799000-39810600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:39799400-39811600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:39799600-39820800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:39808400-39815200	Weak transcription	HepG2	liver
5	chr2:39808400-39819000	Weak transcription	Liver	Liver
6	chr2:39809400-39821000	Weak transcription	Psoas Muscle	Psoas

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

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