Variant report

Variant	rs171350
Chromosome Location	chr2:54924896-54924897
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10180713	0.91[CEU][hapmap]
rs10188600	0.85[AFR][1000 genomes]
rs10191922	0.91[ASN][1000 genomes]
rs1030601	0.84[AFR][1000 genomes]
rs1047499	0.95[CEU][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs11892788	0.86[CEU][hapmap]
rs12104998	0.83[TSI][hapmap]
rs12105792	0.84[TSI][hapmap]
rs12467581	0.84[EUR][1000 genomes]
rs13016942	0.82[CEU][hapmap];0.84[TSI][hapmap]
rs1367295	0.86[TSI][hapmap]
rs1541854	0.83[EUR][1000 genomes]
rs168503	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs168506	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17344072	0.82[CEU][hapmap];0.84[TSI][hapmap]
rs17521078	0.84[TSI][hapmap]
rs1821138	0.80[ASN][1000 genomes]
rs1864493	0.82[CEU][hapmap]
rs187124	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs191628	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2292356	0.83[EUR][1000 genomes]
rs2292357	0.80[EUR][1000 genomes]
rs2567835	0.88[ASN][1000 genomes]
rs2931463	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2931464	0.91[EUR][1000 genomes]
rs2941584	0.83[CHB][hapmap]
rs2941586	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs2941587	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs2941591	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2941595	0.91[CEU][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs2971875	0.82[EUR][1000 genomes]
rs2971877	0.95[CEU][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs2971879	0.95[CEU][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs2971883	0.94[EUR][1000 genomes]
rs2971887	0.83[EUR][1000 genomes]
rs2971889	0.81[EUR][1000 genomes]
rs354187	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs354209	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs354213	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs354214	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs354223	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs354224	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs354226	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs354228	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs354231	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs354236	0.87[CHB][hapmap];0.83[TSI][hapmap]
rs354237	0.86[CHB][hapmap]
rs354238	0.87[CHB][hapmap]
rs3796014	0.83[EUR][1000 genomes]
rs4444573	0.82[EUR][1000 genomes]
rs4455199	0.81[EUR][1000 genomes]
rs4519562	0.84[EUR][1000 genomes]
rs4671221	0.81[TSI][hapmap]
rs4671226	0.84[TSI][hapmap]
rs4671951	0.82[CEU][hapmap];0.84[TSI][hapmap]
rs4671956	0.82[CEU][hapmap];0.84[TSI][hapmap]
rs4671960	0.81[CHD][hapmap]
rs4671961	0.83[CHD][hapmap]
rs6545411	0.81[TSI][hapmap]
rs6545415	0.84[TSI][hapmap]
rs6545419	0.82[CEU][hapmap]
rs6545429	0.80[CEU][hapmap]
rs6545434	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs6545439	0.84[AFR][1000 genomes]
rs6706372	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs6729826	0.89[TSI][hapmap]
rs6731661	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs6732949	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs6734658	0.83[EUR][1000 genomes]
rs6735813	0.81[EUR][1000 genomes]
rs6748816	0.84[EUR][1000 genomes]
rs6761398	0.84[TSI][hapmap]
rs7607451	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs907135	0.91[CEU][hapmap];0.81[MEX][hapmap]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs171350	SPTBN1	cis	cerebellum	SCAN
rs171350	EML6	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54919800-54925600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:54922400-54935800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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