Variant report

Variant	rs4854970
Chromosome Location	chr3:180042567-180042568
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10755138	0.83[ASN][1000 genomes]
rs10937030	0.88[ASN][1000 genomes]
rs12486206	0.94[ASN][1000 genomes]
rs12491089	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12497420	0.87[ASN][1000 genomes]
rs12638851	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12638877	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1464358	0.88[ASN][1000 genomes]
rs1520613	0.81[ASN][1000 genomes]
rs16831406	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2337367	0.88[ASN][1000 genomes]
rs2337369	0.83[ASN][1000 genomes]
rs2878951	0.88[ASN][1000 genomes]
rs2878954	0.92[ASN][1000 genomes]
rs3849424	0.83[ASN][1000 genomes]
rs3849425	0.83[ASN][1000 genomes]
rs3849426	0.83[ASN][1000 genomes]
rs3906014	0.81[ASN][1000 genomes]
rs3914867	0.93[ASN][1000 genomes]
rs3914868	0.93[ASN][1000 genomes]
rs3914869	0.83[ASN][1000 genomes]
rs3914871	0.83[ASN][1000 genomes]
rs4241377	0.81[ASN][1000 genomes]
rs4568133	0.83[ASN][1000 genomes]
rs4854969	0.82[ASN][1000 genomes]
rs55996463	0.82[ASN][1000 genomes]
rs62292326	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6769259	0.82[ASN][1000 genomes]
rs7636890	0.89[ASN][1000 genomes]
rs7639931	0.81[ASN][1000 genomes]
rs7643438	0.85[ASN][1000 genomes]
rs7644566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7652473	0.81[ASN][1000 genomes]
rs939440	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs939441	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.83[ASN][1000 genomes]
rs939442	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9682110	0.83[ASN][1000 genomes]
rs9683358	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9713189	0.88[ASN][1000 genomes]
rs9713891	0.88[ASN][1000 genomes]
rs9818172	0.82[ASN][1000 genomes]
rs9824544	0.81[ASN][1000 genomes]
rs9860910	0.83[ASN][1000 genomes]
rs9864534	0.83[ASN][1000 genomes]
rs9867767	0.98[ASN][1000 genomes]
rs9869873	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012271	chr3:179806875-180234871	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv878040	chr3:179823887-180128288	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv997388	chr3:179899279-180172349	Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv536817	chr3:179899279-180172349	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv878041	chr3:179983857-180097855	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4854970	CAMK2N2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:180039000-180047400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:180041600-180046800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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