Variant report

Variant	rs2271984
Chromosome Location	chr12:117660690-117660691
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:13)

rs_ID	r²[population]
rs2291909	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs3782195	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3782198	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs41432944	0.93[ASN][1000 genomes]
rs7960451	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9658449	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9658463	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs9658496	0.93[ASN][1000 genomes]
rs9658501	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9658508	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9658512	0.93[ASN][1000 genomes]
rs9658515	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9658553	1.00[AMR][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:12 , 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	chr12:117658200-117678200	Weak transcription	Pancreas	Pancrea
6	chr12:117658600-117662000	Weak transcription	Right Atrium	heart
7	chr12:117660000-117727400	Weak transcription	Psoas Muscle	Psoas
8	chr12:117660400-117661000	Strong transcription	NHEK	skin
9	chr12:117660400-117667200	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:117660600-117661000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:117660600-117661000	Strong transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:117660600-117661000	Enhancers	Spleen	Spleen

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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

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