Variant report

Variant	rs2293044
Chromosome Location	chr12:117657991-117657992
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11068418	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068443	1.00[TSI][hapmap]
rs12308759	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3782189	1.00[TSI][hapmap]
rs3782190	1.00[TSI][hapmap]
rs3782214	1.00[TSI][hapmap]
rs41478451	0.89[ASN][1000 genomes]
rs9658280	1.00[TSI][hapmap]
rs9658480	1.00[CHB][hapmap]
rs9658490	1.00[CHB][hapmap]
rs9658562	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.94[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	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	chr12:117646400-117664400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:117651600-117660800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:117651800-117696000	Weak transcription	Brain Anterior Caudate	brain
4	chr12:117652800-117662600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:117656600-117658000	Weak transcription	Pancreas	Pancrea
6	chr12:117656800-117660400	Weak transcription	NHEK	skin
7	chr12:117657600-117658800	Strong transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:117657800-117658000	Active TSS	Brain Substantia Nigra	brain
9	chr12:117657800-117658600	Strong transcription	Skeletal Muscle Female	skeletal muscle

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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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