Variant report

Variant	rs816358
Chromosome Location	chr12:117697308-117697309
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1093325	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1093327	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2650162	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2650163	1.00[CEU][hapmap];0.81[TSI][hapmap];0.96[EUR][1000 genomes]
rs816346	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs816347	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.83[ASN][1000 genomes]
rs816349	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs816351	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs816354	0.83[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs816357	1.00[CEU][hapmap];0.82[JPT][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs864641	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9658480	0.91[JPT][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	nsv1051681	chr12:117692761-117720185	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117660000-117727400	Weak transcription	Psoas Muscle	Psoas
2	chr12:117666200-117704200	Weak transcription	Brain Angular Gyrus	brain
3	chr12:117674800-117706600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:117691000-117697400	Strong transcription	NHEK	skin
5	chr12:117693800-117698200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:117693800-117715200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:117695600-117718200	Weak transcription	Pancreas	Pancrea
8	chr12:117696000-117698200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:117696000-117698400	Strong transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:117696400-117698400	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr12:117697200-117746200	Weak transcription	Brain Anterior Caudate	brain

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links