Variant report

Variant	rs2622927
Chromosome Location	chr1:47861163-47861164
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10789505	0.84[JPT][hapmap]
rs11579058	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11584578	0.81[ASN][1000 genomes]
rs12024328	0.88[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12042790	0.87[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2406101	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2820991	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2820992	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv945748	chr1:47858512-47862980	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2622927	CMPK1	cis	lymphoblastoid	seeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47847600-47865200	Weak transcription	GM12878-XiMat	blood
2	chr1:47847600-47872800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:47856600-47861400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:47860600-47861800	Enhancers	Foreskin Melanocyte Primary Cells skin03	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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