Variant report

Variant	rs9658565
Chromosome Location	chr12:117651367-117651368
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs3741479	1.00[EUR][1000 genomes]
rs3782195	1.00[AFR][1000 genomes]
rs3782198	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs9658551	0.90[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9658552	1.00[EUR][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	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117645200-117655600	Weak transcription	NHEK	skin
2	chr12:117646400-117664400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:117650600-117651400	Enhancers	A549	lung
4	chr12:117650800-117651400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr12:117651000-117652600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:117651000-117652800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:117651000-117657800	Weak transcription	Brain Substantia Nigra	brain
8	chr12:117651200-117651600	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr12:117651200-117657800	Weak transcription	Brain Hippocampus Middle	brain

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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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