Variant report

Variant	rs12117918
Chromosome Location	chr1:102350747-102350748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10874521	0.84[CEU][hapmap];0.92[TSI][hapmap];0.84[EUR][1000 genomes]
rs10874524	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11164314	0.90[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs11164316	0.87[ASN][1000 genomes]
rs11164317	0.87[ASN][1000 genomes]
rs11164324	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1120398	0.87[ASN][1000 genomes]
rs12025533	0.90[ASN][1000 genomes]
rs12026338	0.90[ASN][1000 genomes]
rs12028754	0.90[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs12033269	0.90[ASN][1000 genomes]
rs12035099	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12041588	0.89[ASN][1000 genomes]
rs12092384	1.00[CEU][hapmap]
rs12136252	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12139929	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12730585	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1319726	0.84[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs1336792	0.87[ASN][1000 genomes]
rs1415098	0.85[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs1415100	0.87[ASN][1000 genomes]
rs1415103	0.90[ASN][1000 genomes]
rs1415105	0.90[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs1591591	0.87[ASN][1000 genomes]
rs17125667	1.00[CEU][hapmap];0.83[JPT][hapmap]
rs1856036	0.90[ASN][1000 genomes]
rs2050571	0.87[ASN][1000 genomes]
rs2050572	0.87[ASN][1000 genomes]
rs4642900	0.87[ASN][1000 genomes]
rs56883975	0.90[ASN][1000 genomes]
rs6577276	0.86[ASN][1000 genomes]
rs6577278	0.87[ASN][1000 genomes]
rs6659134	0.87[ASN][1000 genomes]
rs6661052	0.85[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs6693196	0.87[ASN][1000 genomes]
rs6694755	0.87[ASN][1000 genomes]
rs6702995	0.85[ASN][1000 genomes]
rs74107956	0.90[ASN][1000 genomes]
rs74107958	0.90[ASN][1000 genomes]
rs7512170	0.84[YRI][hapmap]
rs7534442	0.80[YRI][hapmap]
rs7543929	0.89[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs962901	0.90[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.90[ASN][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	nsv522921	chr1:102170295-102876392	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv522156	chr1:102309649-102421714	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12117918	DPH5	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:102350000-102351200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:102350000-102351600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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