Variant report

Variant	rs1911830
Chromosome Location	chr8:51571172-51571173
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10101197	0.86[CHB][hapmap]
rs10101893	0.82[CHB][hapmap]
rs10103285	0.82[CHB][hapmap]
rs10104963	0.82[CHB][hapmap]
rs10110050	0.86[EUR][1000 genomes]
rs10111120	0.82[CHB][hapmap]
rs1018207	0.90[JPT][hapmap]
rs10958014	0.82[CHB][hapmap]
rs10958015	0.81[CHB][hapmap]
rs10958023	0.90[JPT][hapmap]
rs10958065	0.83[CEU][hapmap]
rs10958080	0.83[CEU][hapmap]
rs11986411	0.92[CEU][hapmap];0.89[TSI][hapmap]
rs13251712	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13252863	0.83[CEU][hapmap]
rs13254513	0.88[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13273663	0.80[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[YRI][hapmap];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1384831	0.82[CHB][hapmap]
rs1396377	0.90[JPT][hapmap]
rs1483642	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1508622	0.83[CEU][hapmap]
rs1508623	1.00[CEU][hapmap];0.89[JPT][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1567311	0.83[CEU][hapmap];0.86[TSI][hapmap]
rs1848437	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1961173	0.82[CHB][hapmap]
rs2063237	0.82[CHB][hapmap]
rs2202797	0.90[JPT][hapmap]
rs2271203	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2271204	0.82[CHB][hapmap]
rs2392706	0.82[CHB][hapmap]
rs2392707	0.82[CHB][hapmap]
rs34708124	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34871864	0.90[JPT][hapmap]
rs4242462	0.84[CEU][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs4401874	0.82[CHB][hapmap]
rs4424266	0.86[CHB][hapmap]
rs4601323	0.81[CHB][hapmap]
rs6983093	0.82[CHB][hapmap]
rs6988854	0.83[CEU][hapmap]
rs6992551	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs7006744	0.82[CHB][hapmap]
rs7011647	0.83[CEU][hapmap]
rs7013366	0.90[JPT][hapmap]
rs717509	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[YRI][hapmap]
rs717511	0.82[CHB][hapmap]
rs7844393	0.94[JPT][hapmap]
rs906656	0.83[CEU][hapmap];0.87[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948436	chr8:51115028-51917504	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv429914	chr8:51371447-51617647	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv531502	chr8:51390997-51703556	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3514165	chr8:51416583-51923545	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3514166	chr8:51416583-51923545	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv890873	chr8:51462163-51612641	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1027452	chr8:51525439-51725489	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1911830	KIAA0146	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51570200-51595200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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