Variant report

Variant	rs4597229
Chromosome Location	chr14:38400344-38400345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10134624	0.89[ASW][hapmap];0.92[CEU][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.84[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10140719	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs10145136	0.89[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];0.82[TSI][hapmap]
rs10145337	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10146385	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10483495	0.89[CEU][hapmap]
rs10872905	0.92[CEU][hapmap]
rs1113092	0.96[CEU][hapmap]
rs11156973	0.92[CEU][hapmap]
rs11156974	0.92[CEU][hapmap];0.85[LWK][hapmap]
rs11621735	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs11622986	0.96[CEU][hapmap];0.98[EUR][1000 genomes]
rs1170022	0.92[CEU][hapmap];0.91[CHB][hapmap];0.82[MEX][hapmap]
rs1170023	0.84[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs1170024	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1170025	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1170028	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.85[JPT][hapmap];0.81[LWK][hapmap];0.83[MKK][hapmap];0.86[TSI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1170029	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs1170030	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1170031	0.89[CEU][hapmap];0.91[GIH][hapmap];0.81[TSI][hapmap];0.89[EUR][1000 genomes]
rs11851837	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs12147106	0.85[CHB][hapmap];0.82[EUR][1000 genomes]
rs12432452	0.92[CEU][hapmap];0.91[CHB][hapmap]
rs12435640	0.96[CEU][hapmap]
rs12590816	0.96[CEU][hapmap];0.85[LWK][hapmap];0.86[EUR][1000 genomes]
rs12882516	0.92[CEU][hapmap]
rs12883466	0.83[CHB][hapmap]
rs17107343	0.96[CEU][hapmap];0.98[EUR][1000 genomes]
rs17179919	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs17554993	0.92[CEU][hapmap];0.86[MEX][hapmap];0.84[EUR][1000 genomes]
rs1952787	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs1952788	0.96[CEU][hapmap]
rs1952789	0.83[CHB][hapmap]
rs1958693	0.92[CEU][hapmap]
rs1958694	0.92[CEU][hapmap]
rs1959676	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap]
rs2150322	0.96[CEU][hapmap];0.98[GIH][hapmap];0.93[TSI][hapmap];0.97[EUR][1000 genomes]
rs2150323	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs2183531	0.96[CEU][hapmap];0.98[GIH][hapmap];0.93[TSI][hapmap];0.97[EUR][1000 genomes]
rs3809444	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs4143919	0.92[CEU][hapmap]
rs4322573	0.85[CEU][hapmap];0.88[GIH][hapmap]
rs4898785	0.85[CEU][hapmap]
rs4901412	0.92[CEU][hapmap]
rs4901421	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs4901422	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs4901423	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs6571829	0.96[CEU][hapmap];0.91[CHB][hapmap];0.89[YRI][hapmap]
rs6571830	0.96[CEU][hapmap]
rs7148370	0.86[EUR][1000 genomes]
rs7153182	0.86[EUR][1000 genomes]
rs7154853	0.83[EUR][1000 genomes]
rs7155891	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs7158383	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8005651	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs8005895	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs8013747	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014896	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs8015738	0.89[ASW][hapmap];0.92[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.84[TSI][hapmap]
rs9322983	0.92[CEU][hapmap];0.83[CHB][hapmap];0.87[MEX][hapmap]
rs954881	0.92[CEU][hapmap];0.82[GIH][hapmap];0.84[TSI][hapmap];0.88[EUR][1000 genomes]
rs9788473	0.96[CEU][hapmap]
rs9788476	0.96[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916985	chr14:38052347-38838551	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
2	nsv1051120	chr14:38294270-38436127	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv542046	chr14:38294270-38436127	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv564387	chr14:38357864-38563111	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4597229	C14orf147	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38399000-38401000	Enhancers	NHDF-Ad	bronchial
2	chr14:38399400-38400800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:38400000-38401000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:38400000-38401800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr14:38400200-38400600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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