Variant report

Variant	rs12830203
Chromosome Location	chr12:117688499-117688500
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1047735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10774910	0.82[EUR][1000 genomes]
rs10850804	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10850805	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.97[EUR][1000 genomes]
rs11068426	0.92[CHB][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2006789	0.80[EUR][1000 genomes]
rs2291908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2293046	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs3741476	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs7959232	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs904658	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs9658420	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9658498	0.84[CEU][hapmap];0.81[EUR][1000 genomes]

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	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

No data

Chromatin state (count:10 , 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	chr12:117674800-117706600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:117687400-117695800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:117687600-117690600	Weak transcription	Brain Substantia Nigra	brain
7	chr12:117687600-117691800	Strong transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:117687600-117691800	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:117687800-117689600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:117688000-117691000	Weak 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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