Variant report

Variant	rs10478122
Chromosome Location	chr5:112746134-112746135
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10035858	1.00[YRI][hapmap]
rs10043512	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10050553	1.00[YRI][hapmap]
rs10054914	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10055294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10061063	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10070884	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10077495	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10078931	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10478130	1.00[YRI][hapmap]
rs11951897	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11956733	1.00[YRI][hapmap]
rs11960242	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7719254	1.00[YRI][hapmap]
rs7720243	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9326896	1.00[YRI][hapmap]

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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112724400-112751200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:112741400-112746400	Weak transcription	Pancreas	Pancrea

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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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