Variant report

Variant	rs4397949
Chromosome Location	chr12:25504538-25504539
allele	A/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:7)

rs_ID	r²[population]
rs12307973	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4406911	0.87[EUR][1000 genomes]
rs4497496	0.90[EUR][1000 genomes]
rs4963875	0.80[EUR][1000 genomes]
rs5027869	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7304076	0.89[CEU][hapmap]
rs7961171	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv976719	chr12:25482467-25552186	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv898929	chr12:25499342-25634138	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 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	chr12:25501000-25505000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:25501200-25505000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:25501400-25510800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:25502200-25506400	Weak transcription	Thymus	Thymus

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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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