Variant report

Variant	rs1028805
Chromosome Location	chr13:95119269-95119270
allele	G/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:16)

rs_ID	r²[population]
rs1028806	1.00[CHD][hapmap]
rs11619243	1.00[ASN][1000 genomes]
rs16949823	1.00[CHD][hapmap]
rs16949834	1.00[CHD][hapmap]
rs2031527	1.00[CHD][hapmap]
rs2892681	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41495446	1.00[CHD][hapmap]
rs4318084	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs4773794	1.00[CHD][hapmap]
rs4773798	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs61758410	1.00[ASN][1000 genomes]
rs61964070	1.00[ASN][1000 genomes]
rs7319696	1.00[CHB][hapmap]
rs7997429	1.00[CHB][hapmap]
rs9524468	1.00[CHB][hapmap]
rs9524470	1.00[CHB][hapmap]

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	esv34004	chr13:94906537-95392644	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1028805	AMELY	trans	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95106000-95119800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:95117400-95120000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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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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