Variant report

Variant	rs3917412
Chromosome Location	chr1:169700502-169700503
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169690602..169692363-chr1:169698364..169700562,2	K562	blood:
2	chr1:169695880..169697994-chr1:169699455..169701036,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10733054	0.81[CHD][hapmap];0.89[MEX][hapmap];0.82[ASN][1000 genomes]
rs10753792	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10753793	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10919230	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10919239	0.82[CHD][hapmap];0.89[MEX][hapmap];0.82[ASN][1000 genomes]
rs12133843	0.89[MEX][hapmap]
rs1534904	0.92[CEU][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];0.88[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2205848	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2205850	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2205851	0.82[ASN][1000 genomes]
rs2298900	0.88[CEU][hapmap];0.81[AMR][1000 genomes]
rs3766151	0.84[MEX][hapmap]
rs3917390	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3917434	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4508080	0.90[MEX][hapmap]
rs4656716	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4987388	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6427217	0.82[ASN][1000 genomes]
rs6427225	0.90[MEX][hapmap]
rs6676810	0.82[ASN][1000 genomes]
rs6680508	0.82[ASN][1000 genomes]
rs6683056	0.84[MEX][hapmap]
rs7515714	0.92[CEU][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7518441	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7525259	0.90[MEX][hapmap]
rs7526261	0.82[ASN][1000 genomes]
rs7538317	0.92[CEU][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9287097	0.90[MEX][hapmap]
rs964827	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[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	nsv532586	chr1:169593222-169713184	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3917412	C1orf112	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169698600-169700800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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