Variant report

Variant	rs2220742
Chromosome Location	chr3:28231309-28231310
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10510607	0.89[GIH][hapmap]
rs17021298	0.91[GIH][hapmap]
rs1845166	0.87[CEU][hapmap];0.83[CHB][hapmap];0.96[EUR][1000 genomes]
rs4680748	0.82[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap]
rs4680903	0.98[EUR][1000 genomes]
rs4680905	0.97[EUR][1000 genomes]
rs56188445	0.97[EUR][1000 genomes]
rs60425255	0.83[ASN][1000 genomes]
rs6800659	0.95[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.82[LWK][hapmap];0.86[MKK][hapmap];0.91[ASN][1000 genomes]
rs6810242	0.90[ASN][1000 genomes]
rs7645825	0.83[GIH][hapmap]
rs9637515	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs966029	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328565	chr3:27991169-28915035	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv876648	chr3:28060456-28280965	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv876649	chr3:28126595-28718454	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv998002	chr3:28208676-28252031	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2220742	CMC1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28229000-28231800	Weak transcription	Muscle Satellite Cultured Cells	--

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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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