Variant report

Variant	rs213520
Chromosome Location	chr7:26942766-26942767
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1005977	0.81[EUR][1000 genomes]
rs10231265	0.84[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes]
rs10267442	0.85[EUR][1000 genomes]
rs1082313	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11975480	0.83[EUR][1000 genomes]
rs13311400	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2015424	0.85[EUR][1000 genomes]
rs2030137	0.88[EUR][1000 genomes]
rs213514	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs213516	0.93[YRI][hapmap];0.91[AFR][1000 genomes]
rs213532	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2252947	0.88[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes]
rs2259141	0.93[YRI][hapmap];0.91[AFR][1000 genomes]
rs2264680	0.88[EUR][1000 genomes]
rs2428420	0.87[EUR][1000 genomes]
rs2428424	0.83[EUR][1000 genomes]
rs2428426	0.81[EUR][1000 genomes]
rs2428428	0.81[EUR][1000 genomes]
rs2428430	0.92[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.87[EUR][1000 genomes]
rs2462901	0.92[CEU][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.98[TSI][hapmap];0.87[EUR][1000 genomes]
rs2462903	0.84[EUR][1000 genomes]
rs2462905	0.80[EUR][1000 genomes]
rs2462907	0.92[CEU][hapmap];0.90[JPT][hapmap];0.91[TSI][hapmap]
rs2465263	0.92[CEU][hapmap]
rs2465265	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2465267	0.92[CEU][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2522822	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2522823	0.92[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes]
rs2522829	0.88[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs2648079	0.82[AFR][1000 genomes]
rs2693658	0.85[EUR][1000 genomes]
rs2693660	0.81[AFR][1000 genomes]
rs2693661	0.80[AFR][1000 genomes]
rs2693666	0.96[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes]
rs2693669	0.82[AFR][1000 genomes]
rs2712231	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs2712232	0.86[EUR][1000 genomes]
rs2712235	0.92[CEU][hapmap]
rs2712240	0.82[EUR][1000 genomes]
rs2712241	0.92[CEU][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes]
rs2712243	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2936424	0.93[AFR][1000 genomes]
rs2936426	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2960784	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2960785	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2960786	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs774244	0.87[AFR][1000 genomes]
rs774248	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs774250	0.85[AFR][1000 genomes]
rs774251	0.82[AFR][1000 genomes]
rs774253	0.82[AFR][1000 genomes]
rs774254	0.92[CEU][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs774255	0.88[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs774263	0.90[AFR][1000 genomes]
rs774264	0.96[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs774266	0.91[AFR][1000 genomes]
rs774267	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs774269	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs799237	0.91[CEU][hapmap];0.95[JPT][hapmap]
rs954051	0.89[ASW][hapmap];1.00[LWK][hapmap];0.83[YRI][hapmap];0.81[AFR][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	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs213520	C7orf31	cis	parietal	SCAN
rs213520	SKAP2	cis	Whole Blood	GTEx
rs213520	HOTAIRM1	cis	Whole Blood	GTEx
rs213520	HOXA-AS2	cis	Whole Blood	GTEx
rs213520	HOXA2	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26939200-26945400	Weak transcription	Fetal Lung	lung
2	chr7:26942200-26943000	Enhancers	HepG2	liver

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