Variant report

Variant	rs4349974
Chromosome Location	chr8:63055549-63055550
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs34250977	0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4268118	0.80[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4383956	0.80[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4562310	0.85[ASN][1000 genomes]
rs4610738	0.85[ASN][1000 genomes]
rs4738938	0.80[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7832144	0.80[AFR][1000 genomes];0.87[ASN][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	nsv890955	chr8:62919691-63062581	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3379068	chr8:63053475-63058195	ZNF genes & repeats Enhancers Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63052000-63055800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:63054600-63060600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:63055400-63056000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	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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