Variant report

Variant	rs10930476
Chromosome Location	chr2:172355324-172355325
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10490604	0.86[ASN][1000 genomes]
rs13384194	0.94[ASN][1000 genomes]
rs1476111	0.86[ASN][1000 genomes]
rs17221346	0.90[ASN][1000 genomes]
rs28742013	0.86[ASN][1000 genomes]
rs4667689	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55999882	0.86[ASN][1000 genomes]
rs58182652	0.90[ASN][1000 genomes]
rs58267868	0.90[ASN][1000 genomes]
rs62183504	0.87[ASN][1000 genomes]
rs62183537	0.90[ASN][1000 genomes]
rs62183540	0.94[ASN][1000 genomes]
rs6433291	0.86[ASN][1000 genomes]
rs6718740	0.84[ASN][1000 genomes]
rs6751956	0.84[ASN][1000 genomes]
rs7573183	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7594714	0.86[ASN][1000 genomes]
rs7600478	0.89[ASN][1000 genomes]
rs9789380	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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10930476	CYBRD1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172340000-172368400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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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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