Variant report

Variant	rs9658501
Chromosome Location	chr12:117665264-117665265
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11068425	0.84[ASN][1000 genomes]
rs2271984	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2291909	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2293053	0.84[ASN][1000 genomes]
rs3782195	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3782198	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs41432944	1.00[ASN][1000 genomes]
rs58807700	0.84[ASN][1000 genomes]
rs73401890	0.84[ASN][1000 genomes]
rs73401892	0.84[ASN][1000 genomes]
rs7960451	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9658449	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9658462	0.84[ASN][1000 genomes]
rs9658463	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs9658496	1.00[ASN][1000 genomes]
rs9658508	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9658512	1.00[ASN][1000 genomes]
rs9658515	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv3418890	chr12:117665132-117665562	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117651800-117696000	Weak transcription	Brain Anterior Caudate	brain
2	chr12:117658200-117678200	Weak transcription	Pancreas	Pancrea
3	chr12:117660000-117727400	Weak transcription	Psoas Muscle	Psoas
4	chr12:117660400-117667200	Strong transcription	Skeletal Muscle Female	skeletal muscle
5	chr12:117661000-117669800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:117662200-117670400	Strong transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:117662600-117665400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:117662600-117667200	Strong transcription	NHEK	skin
9	chr12:117664400-117665600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:117664400-117666400	Enhancers	A549	lung
11	chr12:117664800-117672400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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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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