Variant report

Variant	rs12730639
Chromosome Location	chr1:86520142-86520143
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10518360	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10518362	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11161727	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12057842	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12077017	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12097262	0.88[ASN][1000 genomes]
rs12353970	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12354099	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12729383	1.00[ASN][1000 genomes]
rs12729890	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12743320	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12743750	1.00[ASN][1000 genomes]
rs12744993	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12748730	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12750946	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1359419	0.89[EUR][1000 genomes]
rs1698742	0.81[EUR][1000 genomes]
rs1698743	0.81[EUR][1000 genomes]
rs1698744	0.81[EUR][1000 genomes]
rs17405880	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17405900	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17406104	0.89[EUR][1000 genomes]
rs17406138	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17406173	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17406644	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17413771	1.00[ASN][1000 genomes]
rs17414498	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17414519	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17414568	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17414617	0.89[EUR][1000 genomes]
rs17414884	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17415692	0.88[ASN][1000 genomes]
rs34848727	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs471070	0.81[EUR][1000 genomes]
rs489267	0.81[EUR][1000 genomes]
rs4912442	0.89[EUR][1000 genomes]
rs4912443	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4912455	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4912459	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs500756	0.81[EUR][1000 genomes]
rs511732	0.81[EUR][1000 genomes]
rs516799	0.81[EUR][1000 genomes]
rs518538	0.81[EUR][1000 genomes]
rs519361	0.81[EUR][1000 genomes]
rs521253	0.81[EUR][1000 genomes]
rs532684	0.81[EUR][1000 genomes]
rs547023	0.81[EUR][1000 genomes]
rs551670	0.81[EUR][1000 genomes]
rs55766419	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56040491	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56229462	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56353901	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56392000	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs567565	0.81[EUR][1000 genomes]
rs567617	0.81[EUR][1000 genomes]
rs569409	0.81[EUR][1000 genomes]
rs570172	0.81[EUR][1000 genomes]
rs574780	0.81[EUR][1000 genomes]
rs580540	0.81[EUR][1000 genomes]
rs582517	0.81[EUR][1000 genomes]
rs584895	0.81[EUR][1000 genomes]
rs59767206	0.88[ASN][1000 genomes]
rs599761	0.81[EUR][1000 genomes]
rs612256	0.81[EUR][1000 genomes]
rs615805	0.81[EUR][1000 genomes]
rs616281	0.81[EUR][1000 genomes]
rs617652	0.81[EUR][1000 genomes]
rs631512	0.81[EUR][1000 genomes]
rs632295	0.81[EUR][1000 genomes]
rs632697	0.81[EUR][1000 genomes]
rs634946	0.81[EUR][1000 genomes]
rs635391	0.81[EUR][1000 genomes]
rs635397	0.81[EUR][1000 genomes]
rs635713	0.81[EUR][1000 genomes]
rs636210	0.81[EUR][1000 genomes]
rs647380	0.81[EUR][1000 genomes]
rs648866	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs650216	0.81[EUR][1000 genomes]
rs663463	0.81[EUR][1000 genomes]
rs664099	0.81[EUR][1000 genomes]
rs664412	0.81[EUR][1000 genomes]
rs6658643	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6703328	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67472012	0.88[ASN][1000 genomes]
rs679256	0.81[EUR][1000 genomes]
rs680179	0.81[EUR][1000 genomes]
rs72716130	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72716134	1.00[ASN][1000 genomes]
rs72716145	0.88[ASN][1000 genomes]
rs72716149	0.88[ASN][1000 genomes]
rs72958291	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72958294	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72960324	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72960354	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72960374	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7411998	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]

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	nsv817212	chr1:86127851-86658426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1010312	chr1:86469730-86686426	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv525678	chr1:86487914-86549498	Enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1012467	chr1:86494935-86686426	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86507800-86520400	Weak transcription	Fetal Lung	lung
2	chr1:86519800-86522000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:86520000-86520200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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