Variant report

Variant	rs2273173
Chromosome Location	chr14:80770951-80770952
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	chr14:80580909..80583762-chr14:80770717..80773248,2	MCF-7	breast:
2	chr14:80746660..80748649-chr14:80769741..80771305,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10131076	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10133463	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10140980	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10144099	0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10146631	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10149251	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10150064	0.90[ASN][1000 genomes]
rs10150190	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10483947	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11159454	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11851891	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1388378	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17110449	0.94[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17110492	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17110521	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1884071	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1907526	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1955625	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2160354	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2160355	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2267872	0.93[GIH][hapmap];0.88[JPT][hapmap]
rs2267873	1.00[CEU][hapmap];0.81[MEX][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs2295138	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28607034	0.88[ASN][1000 genomes]
rs28883971	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55859799	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55884286	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61989398	0.85[ASN][1000 genomes]
rs6574551	0.94[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.89[ASN][1000 genomes]
rs7140952	0.94[JPT][hapmap]
rs7141617	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7145153	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7145584	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7146189	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7154177	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs7154898	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7159642	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7159995	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7160310	0.86[JPT][hapmap]
rs7350729	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8003183	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8009555	0.94[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs8011716	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9652301	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9972105	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9972275	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];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	nsv902113	chr14:80172094-80929699	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv902115	chr14:80700351-80844239	Enhancers Weak transcription Flanking Active TSS Active 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
rs2273173	KIAA1737	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80769600-80771200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr14:80770200-80772000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:80770600-80771000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:80770600-80771200	Enhancers	NHDF-Ad	bronchial

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