Variant report

Variant	rs354215
Chromosome Location	chr2:54927987-54927988
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1027950	0.97[ASN][1000 genomes]
rs12611806	0.92[ASN][1000 genomes]
rs12612665	0.90[ASN][1000 genomes]
rs12622340	0.94[ASN][1000 genomes]
rs1510612	0.93[ASN][1000 genomes]
rs17046153	0.91[ASN][1000 genomes]
rs2007020	0.92[ASN][1000 genomes]
rs2567837	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs354188	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs354239	0.81[EUR][1000 genomes]
rs354241	0.80[EUR][1000 genomes]
rs354242	0.81[EUR][1000 genomes]
rs4671966	0.83[ASN][1000 genomes]
rs4671968	0.93[ASN][1000 genomes]
rs56898160	0.93[ASN][1000 genomes]
rs6738725	0.92[ASN][1000 genomes]
rs72618665	0.91[ASN][1000 genomes]
rs72618667	0.93[ASN][1000 genomes]
rs72618668	0.93[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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs354215	SPTBN1	Cis_1M	lymphoblastoid	RTeQTL
rs354215	EML6	cis	Artery Tibial	GTEx
rs354215	EML6	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54922400-54935800	Weak transcription	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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