Variant report

Variant	rs31420
Chromosome Location	chr14:79429931-79429932
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10873319	0.82[CHB][hapmap];0.88[CHD][hapmap];0.84[JPT][hapmap]
rs11159385	0.91[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs11159386	0.91[CHB][hapmap];0.91[CHD][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs11159387	0.91[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs11159388	0.91[CHB][hapmap];0.91[CHD][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs11159389	0.91[CHB][hapmap];0.91[CHD][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs11159390	0.95[CHB][hapmap];0.91[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs11847534	0.91[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs11847702	0.91[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs11851757	0.90[CEU][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs12050287	0.91[CHB][hapmap];0.91[CHD][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs12588364	0.91[CHB][hapmap];0.91[CHD][hapmap];0.84[JPT][hapmap]
rs154329	0.84[JPT][hapmap]
rs154330	0.84[JPT][hapmap]
rs154333	0.84[JPT][hapmap]
rs154376	0.84[JPT][hapmap]
rs154378	0.84[JPT][hapmap]
rs17108397	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs17108429	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17108457	1.00[CEU][hapmap]
rs220104	0.84[JPT][hapmap]
rs2270963	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2272292	0.91[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs2272293	0.91[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs31414	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs31415	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs31416	0.90[CEU][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs31417	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs31419	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs31421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs31422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs31423	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs31424	0.95[JPT][hapmap];0.89[YRI][hapmap];0.92[ASN][1000 genomes]
rs31426	0.87[CHB][hapmap];0.82[GIH][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs31429	0.80[YRI][hapmap]
rs31439	0.80[ASN][1000 genomes]
rs31441	0.91[CHB][hapmap]
rs3805719	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs60746359	0.83[ASN][1000 genomes]
rs61995265	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61995266	0.83[EUR][1000 genomes]
rs7142134	0.82[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap]
rs7157841	0.91[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs730024	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003966	0.82[ASN][1000 genomes]
rs8012310	1.00[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	nsv832838	chr14:79306627-79445382	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv917249	chr14:79388181-79574717	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1041991	chr14:79394408-79644886	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1037112	chr14:79412455-79527656	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv931412	chr14:79420297-79928269	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79416800-79436000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr14:79426600-79435800	Weak transcription	Brain Hippocampus Middle	brain
3	chr14:79426600-79437200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:79426600-79437400	Weak transcription	Brain Angular Gyrus	brain
5	chr14:79428200-79430600	Weak transcription	HUVEC	blood vessel
6	chr14:79428800-79433200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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