Variant report

Variant	rs2494184
Chromosome Location	chr1:210386892-210386893
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10863816	0.89[ASN][1000 genomes]
rs1338298	0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.89[ASN][1000 genomes]
rs1342135	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs1473696	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2473813	0.85[ASN][1000 genomes]
rs2487903	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2487904	0.85[EUR][1000 genomes]
rs2494180	0.91[EUR][1000 genomes]
rs2494183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs654523	0.84[YRI][hapmap]
rs71571933	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7534368	0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210386200-210387400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:210386400-210387000	Enhancers	H9 Cell Line	embryonic stem cell
3	chr1:210386400-210387000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr1:210386400-210387000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:210386600-210387000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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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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