Variant report

Variant	rs56709747
Chromosome Location	chr2:12062248-12062249
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16857890	1.00[AMR][1000 genomes]
rs56249556	1.00[AMR][1000 genomes]
rs56811883	1.00[AMR][1000 genomes]
rs57243791	1.00[AMR][1000 genomes]
rs57434799	1.00[AMR][1000 genomes]
rs58449481	1.00[AMR][1000 genomes]
rs59456601	1.00[AMR][1000 genomes]
rs60509666	1.00[AMR][1000 genomes]
rs73915835	1.00[AMR][1000 genomes]
rs73915837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915862	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915866	1.00[AMR][1000 genomes]
rs73915868	1.00[AMR][1000 genomes]
rs73915873	1.00[AMR][1000 genomes]
rs73915887	1.00[AMR][1000 genomes]
rs73915888	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	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv833403	chr2:11944552-12125634	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12056000-12064800	Weak transcription	GM12878-XiMat	blood
2	chr2:12057400-12064400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:12059200-12063200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:12060400-12069200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:12061200-12062600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:12061600-12064000	Weak transcription	K562	blood
7	chr2:12062200-12062600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:12062200-12070800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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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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