Variant report

Variant	rs12883466
Chromosome Location	chr14:38385821-38385822
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10145136	0.83[CHB][hapmap]
rs11156974	0.91[GIH][hapmap];0.80[TSI][hapmap]
rs11621735	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs11622986	0.80[CEU][hapmap]
rs1170022	0.91[CHB][hapmap]
rs1170023	0.82[CHB][hapmap]
rs1170025	0.86[CHB][hapmap]
rs1170028	0.82[CHB][hapmap]
rs1170030	0.82[CEU][hapmap]
rs11851837	0.85[CEU][hapmap];0.91[GIH][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes]
rs12147106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12432452	0.81[CEU][hapmap];0.91[CHB][hapmap]
rs12435640	0.82[CEU][hapmap]
rs12590816	0.82[CEU][hapmap];0.93[GIH][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs12882516	0.91[GIH][hapmap];0.80[TSI][hapmap]
rs17107343	0.82[CEU][hapmap]
rs17179919	0.82[CEU][hapmap];0.91[GIH][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs17554993	0.86[CHB][hapmap]
rs1952787	0.82[CEU][hapmap];0.93[GIH][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs1952788	0.82[CEU][hapmap]
rs1952789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1952790	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1958692	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1958693	0.89[GIH][hapmap]
rs2150322	0.82[CEU][hapmap]
rs2150323	0.83[CHB][hapmap]
rs2183531	0.82[CEU][hapmap]
rs2415421	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2415422	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3809444	0.82[CEU][hapmap];0.93[GIH][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs4597229	0.83[CHB][hapmap]
rs4898785	0.91[GIH][hapmap]
rs4901421	0.82[CEU][hapmap];0.93[GIH][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs4901422	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs4901423	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs6571829	0.82[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap]
rs6571830	0.80[CEU][hapmap]
rs71407745	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71407747	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7154853	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7155891	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs8005651	0.83[CHB][hapmap]
rs8005895	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs8013747	0.82[CEU][hapmap];0.83[CHB][hapmap]
rs9322983	0.81[CHB][hapmap];0.82[CHD][hapmap]
rs9788473	0.82[CEU][hapmap]
rs9788476	0.82[CEU][hapmap]

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	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
5	esv3354861	chr14:38359630-38392369	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	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
rs12883466	C14orf147	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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