Variant report

Variant	rs12318395
Chromosome Location	chr12:105945793-105945794
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11112602	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12301860	1.00[AMR][1000 genomes]
rs12303555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12306183	1.00[AMR][1000 genomes]
rs12314435	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17037175	1.00[AMR][1000 genomes]
rs60596663	1.00[AMR][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	nsv899501	chr12:105819046-105950801	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv832507	chr12:105821685-106005186	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1039068	chr12:105935786-106211250	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105938200-105946600	Strong transcription	HUVEC	blood vessel
2	chr12:105938800-105964600	Weak transcription	Aorta	Aorta
3	chr12:105942200-105947800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:105945200-105947200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr12:105945400-105955000	Weak transcription	HSMMtube	muscle
6	chr12:105945600-105946000	Enhancers	Skeletal Muscle Male	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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