Variant report

Variant	rs12952605
Chromosome Location	chr17:38875897-38875898
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12943070	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12947305	1.00[AMR][1000 genomes]
rs16966114	1.00[AMR][1000 genomes]
rs35695383	1.00[AMR][1000 genomes]
rs71371437	1.00[AMR][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	nsv431626	chr17:38770965-38999722	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription 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 miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38860000-38890200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr17:38874400-38878600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr17:38874800-38876200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr17:38874800-38876600	Enhancers	Placenta Amnion	Placenta Amnion
5	chr17:38875000-38876400	Enhancers	Hela-S3	cervix
6	chr17:38875000-38879600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr17:38875400-38876000	Enhancers	Placenta	Placenta
8	chr17:38875400-38876000	Enhancers	NHEK	skin
9	chr17:38875800-38876400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr17:38875800-38877200	Weak transcription	A549	lung

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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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