Variant report

Variant	rs6736129
Chromosome Location	chr2:171662339-171662340
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10165379	0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs10181282	0.88[ASN][1000 genomes]
rs10184230	0.88[ASW][hapmap]
rs10194303	0.82[CHB][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap]
rs10432420	0.94[ASN][1000 genomes]
rs10803852	0.85[YRI][hapmap]
rs10930438	0.82[CHB][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap]
rs11895153	0.82[CHB][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap]
rs12994793	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs13028382	0.82[ASN][1000 genomes]
rs1362489	0.82[ASN][1000 genomes]
rs1362490	0.91[CHB][hapmap];0.83[CHD][hapmap];0.94[GIH][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2241165	0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs2270334	0.83[EUR][1000 genomes]
rs2270335	0.83[EUR][1000 genomes]
rs3749034	0.95[TSI][hapmap];0.90[EUR][1000 genomes]
rs3762555	0.89[EUR][1000 genomes]
rs3764915	0.86[ASN][1000 genomes]
rs3764916	0.86[ASN][1000 genomes]
rs6433246	0.81[ASN][1000 genomes]
rs6433247	0.81[ASN][1000 genomes]
rs6433248	0.82[ASN][1000 genomes]
rs6711176	0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs6723611	0.82[CHB][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap]
rs6726371	0.82[ASN][1000 genomes]
rs6733809	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs6755814	0.95[LWK][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes]
rs6757195	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7557793	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7568115	0.85[YRI][hapmap]
rs872123	0.90[EUR][1000 genomes]
rs953680	0.91[CHB][hapmap];0.83[CHD][hapmap];0.94[GIH][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs954321	0.91[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs9973711	0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806894	chr2:171651783-171679041	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6736129	PDK1	cis	parietal	SCAN
rs6736129	GAD1	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171642400-171669000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:171659200-171668600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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