Variant report

Variant	rs847354
Chromosome Location	chr14:72781929-72781930
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10138180	0.82[TSI][hapmap]
rs12894979	0.86[GIH][hapmap];0.89[TSI][hapmap]
rs1402056	0.86[GIH][hapmap];0.91[TSI][hapmap]
rs1520331	0.85[CEU][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs1520332	0.85[CEU][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs1568404	0.82[CHD][hapmap];0.86[JPT][hapmap]
rs1996662	0.86[CHB][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2090737	0.89[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2238199	0.85[CEU][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2239233	0.80[EUR][1000 genomes]
rs2239248	0.89[CEU][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2239249	0.89[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2283390	0.85[CEU][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs2332831	0.81[TSI][hapmap]
rs2681721	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2681728	0.85[CEU][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs2681742	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs2681754	0.82[TSI][hapmap]
rs4903003	0.84[GIH][hapmap];0.93[TSI][hapmap]
rs68053524	0.82[ASN][1000 genomes]
rs7144302	0.80[CHB][hapmap];0.87[CHD][hapmap];0.82[JPT][hapmap]
rs847347	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs847351	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs847352	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs847353	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs847356	0.82[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[MEX][hapmap];0.86[ASN][1000 genomes]
rs847357	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs847359	0.95[JPT][hapmap]

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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs847354	COX16	cis	cerebellum	SCAN
rs847354	C14orf43	cis	cerebellum	SCAN
rs847354	C14orf115	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72775400-72782800	Enhancers	Fetal Stomach	stomach
2	chr14:72778000-72782400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:72781200-72785200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:72781200-72789400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr14:72781400-72782200	Enhancers	Fetal Lung	lung
6	chr14:72781400-72782400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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