Variant report

Variant	rs2511606
Chromosome Location	chr8:105295695-105295696
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10102063	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10102178	0.92[ASN][1000 genomes]
rs1060441	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs10955346	0.92[ASN][1000 genomes]
rs1374518	0.89[ASN][1000 genomes]
rs16871229	0.92[ASN][1000 genomes]
rs1868010	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2084280	0.85[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2340766	0.89[ASN][1000 genomes]
rs2441790	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs2441794	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs2441802	0.81[EUR][1000 genomes]
rs2441815	0.87[EUR][1000 genomes]
rs2441818	0.87[EUR][1000 genomes]
rs2441819	0.87[EUR][1000 genomes]
rs2441821	0.87[EUR][1000 genomes]
rs2441823	0.87[EUR][1000 genomes]
rs2441824	0.87[EUR][1000 genomes]
rs2441826	0.87[EUR][1000 genomes]
rs2441827	0.87[EUR][1000 genomes]
rs2441832	0.89[EUR][1000 genomes]
rs2441838	0.85[EUR][1000 genomes]
rs2441848	0.85[EUR][1000 genomes]
rs2441850	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2441851	1.00[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2441885	0.83[EUR][1000 genomes]
rs2441895	0.92[EUR][1000 genomes]
rs2441896	0.93[EUR][1000 genomes]
rs2441902	0.81[EUR][1000 genomes]
rs2441905	0.84[EUR][1000 genomes]
rs2441907	0.83[EUR][1000 genomes]
rs2441910	0.82[EUR][1000 genomes]
rs2511553	0.82[EUR][1000 genomes]
rs2511580	0.91[CEU][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes]
rs2511585	0.87[EUR][1000 genomes]
rs2511587	0.87[EUR][1000 genomes]
rs2511590	0.86[EUR][1000 genomes]
rs2511594	0.87[EUR][1000 genomes]
rs2511595	0.87[EUR][1000 genomes]
rs2511597	0.87[EUR][1000 genomes]
rs2511602	0.87[EUR][1000 genomes]
rs2511603	0.87[EUR][1000 genomes]
rs2511605	0.95[EUR][1000 genomes]
rs2511609	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2511619	0.85[EUR][1000 genomes]
rs2511625	0.86[EUR][1000 genomes]
rs2511626	0.93[EUR][1000 genomes]
rs2511640	0.82[EUR][1000 genomes]
rs2511641	0.84[EUR][1000 genomes]
rs2511643	0.84[EUR][1000 genomes]
rs2511646	0.82[EUR][1000 genomes]
rs2511648	0.82[EUR][1000 genomes]
rs2514629	0.86[EUR][1000 genomes]
rs2514630	0.86[EUR][1000 genomes]
rs2514631	1.00[CEU][hapmap];0.98[TSI][hapmap];0.94[EUR][1000 genomes]
rs2514632	0.93[EUR][1000 genomes]
rs2514640	0.93[EUR][1000 genomes]
rs2514645	0.93[EUR][1000 genomes]
rs2514652	0.89[EUR][1000 genomes]
rs2514659	0.88[EUR][1000 genomes]
rs2514672	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514673	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3099574	0.82[EUR][1000 genomes]
rs4448239	0.90[CHB][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs4734093	0.82[ASN][1000 genomes]
rs4734094	0.94[ASN][1000 genomes]
rs4734761	0.99[ASN][1000 genomes]
rs4734763	0.99[ASN][1000 genomes]
rs750432	0.87[EUR][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	nsv831416	chr8:105137789-105296965	Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2511606	ARHGEF19	trans	parietal	SCAN
rs2511606	RIMS2	cis	brain	seeQTL
rs2511606	NCALD	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105290400-105296200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:105294400-105296400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:105295200-105296600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:105295200-105296800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:105295400-105296400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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