Variant report

Variant	rs9658478
Chromosome Location	chr12:117680155-117680156
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs60832967	0.85[AFR][1000 genomes]
rs7133141	1.00[MEX][hapmap]
rs7314778	1.00[MEX][hapmap]
rs7957789	0.91[YRI][hapmap];0.87[AFR][1000 genomes]
rs9658424	0.81[AFR][1000 genomes]
rs9658447	0.94[LWK][hapmap];1.00[MEX][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes]
rs9658450	0.86[YRI][hapmap]
rs9658483	1.00[MEX][hapmap]
rs9658574	1.00[MEX][hapmap]

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	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers 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	14 gene(s)	inside rSNPs	diseases
2	nsv510592	chr12:117618872-117684713	Bivalent/Poised TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117651800-117696000	Weak transcription	Brain Anterior Caudate	brain
2	chr12:117660000-117727400	Weak transcription	Psoas Muscle	Psoas
3	chr12:117666200-117704200	Weak transcription	Brain Angular Gyrus	brain
4	chr12:117670000-117687800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:117674800-117706600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:117678800-117687600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr12:117679000-117681400	Strong transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:117680000-117681400	Strong transcription	NHEK	skin

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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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