Variant report

Variant	rs2696970
Chromosome Location	chr2:177656432-177656433
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:177621854..177624044-chr2:177654203..177657140,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10177590	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10178007	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10187286	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10190557	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10200938	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11674129	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs11678055	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11681760	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11688079	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11688181	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11692259	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1251032	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1251033	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1251034	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251035	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12693106	0.81[CEU][hapmap];0.84[GIH][hapmap]
rs12991908	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12993397	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12993530	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12999377	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13019320	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13021258	0.92[CEU][hapmap];0.90[GIH][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap]
rs1398975	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1398976	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2028188	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2203300	1.00[MEX][hapmap]
rs2670674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34652621	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4021395	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4021396	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7562010	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7581696	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7601006	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7601248	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527737	chr2:177538266-177692572	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv583686	chr2:177538266-177692572	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1006500	chr2:177548521-177707097	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2696970	OLA1	cis	parietal	SCAN
rs2696970	NFE2L2	cis	parietal	SCAN
rs2696970	ZAK	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:177655800-177657600	Weak transcription	Ovary	ovary
2	chr2:177655800-177658400	Weak transcription	Brain Germinal Matrix	brain

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