Variant report

Variant	rs12712324
Chromosome Location	chr2:32058515-32058516
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10779914	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs11124272	0.81[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.84[YRI][hapmap]
rs11904162	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12478134	0.87[CHB][hapmap];0.82[JPT][hapmap];0.90[YRI][hapmap]
rs2366547	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs3754835	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs3769611	0.90[JPT][hapmap];1.00[YRI][hapmap]
rs4952244	0.82[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6726908	0.86[EUR][1000 genomes]
rs6739055	0.80[EUR][1000 genomes]
rs7587666	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][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	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv873777	chr2:32019747-32197123	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32054400-32080000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:32054600-32067800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:32054600-32090400	Weak transcription	HSMM	muscle
4	chr2:32057200-32117200	Weak transcription	Muscle Satellite Cultured Cells	--

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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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