Variant report

Variant	rs357714
Chromosome Location	chr2:180670070-180670071
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:180664595..180667266-chr2:180669827..180672570,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10153833	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs10930887	0.96[CEU][hapmap];0.82[CHD][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12328338	0.85[CHD][hapmap];0.80[MEX][hapmap]
rs13014995	0.92[CEU][hapmap]
rs1352111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1383413	0.84[CEU][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.92[EUR][1000 genomes]
rs165373	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs165374	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs165379	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs165380	1.00[CEU][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs165381	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs187745	0.92[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs194674	0.96[CEU][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2219670	0.85[CHD][hapmap];0.80[MEX][hapmap]
rs2367797	0.85[CEU][hapmap];0.92[MEX][hapmap];0.81[TSI][hapmap]
rs259831	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs259833	0.96[CEU][hapmap];0.82[CHD][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2630539	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28520865	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs357708	0.86[CHB][hapmap];0.81[CHD][hapmap]
rs357709	0.81[CHD][hapmap]
rs357711	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs357712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894131	0.81[CEU][hapmap]
rs6725456	0.92[CEU][hapmap]
rs6752731	0.92[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7557122	0.92[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7585592	0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7588035	0.92[CEU][hapmap]
rs7597666	0.92[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7608363	0.81[CHD][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	nsv1002305	chr2:180568558-180812846	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv428731	chr2:180629389-180805171	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs357714	EVX2	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

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