Variant report

Variant	rs12354100
Chromosome Location	chr1:86529634-86529635
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10518362	0.92[ASN][1000 genomes]
rs11161727	0.92[ASN][1000 genomes]
rs12057842	0.92[ASN][1000 genomes]
rs12077017	0.92[ASN][1000 genomes]
rs12354099	0.92[ASN][1000 genomes]
rs12729890	0.92[ASN][1000 genomes]
rs12750946	0.92[ASN][1000 genomes]
rs1359419	0.90[ASN][1000 genomes]
rs1698742	0.92[ASN][1000 genomes]
rs1698743	0.92[ASN][1000 genomes]
rs1698744	0.92[ASN][1000 genomes]
rs17405880	0.92[ASN][1000 genomes]
rs17405900	0.92[ASN][1000 genomes]
rs17406104	0.92[ASN][1000 genomes]
rs17406138	0.92[ASN][1000 genomes]
rs17406173	0.92[ASN][1000 genomes]
rs17414498	0.92[ASN][1000 genomes]
rs17414519	0.92[ASN][1000 genomes]
rs17414568	0.92[ASN][1000 genomes]
rs17414617	0.92[ASN][1000 genomes]
rs34848727	0.92[ASN][1000 genomes]
rs471070	0.92[ASN][1000 genomes]
rs477562	0.83[ASN][1000 genomes]
rs489267	0.92[ASN][1000 genomes]
rs4912442	0.92[ASN][1000 genomes]
rs4912443	0.92[ASN][1000 genomes]
rs4912459	0.92[ASN][1000 genomes]
rs500756	0.92[ASN][1000 genomes]
rs511363	0.87[ASN][1000 genomes]
rs511732	0.92[ASN][1000 genomes]
rs516799	0.92[ASN][1000 genomes]
rs518538	0.92[ASN][1000 genomes]
rs519361	0.92[ASN][1000 genomes]
rs521253	0.92[ASN][1000 genomes]
rs532684	0.92[ASN][1000 genomes]
rs538256	0.88[ASN][1000 genomes]
rs547023	0.92[ASN][1000 genomes]
rs551670	0.92[ASN][1000 genomes]
rs55766419	0.92[ASN][1000 genomes]
rs56040491	0.92[ASN][1000 genomes]
rs56229462	0.92[ASN][1000 genomes]
rs56392000	0.92[ASN][1000 genomes]
rs567565	0.92[ASN][1000 genomes]
rs567617	0.87[ASN][1000 genomes]
rs569409	0.92[ASN][1000 genomes]
rs570172	0.92[ASN][1000 genomes]
rs574780	0.92[ASN][1000 genomes]
rs580540	0.92[ASN][1000 genomes]
rs582517	0.87[ASN][1000 genomes]
rs584895	0.87[ASN][1000 genomes]
rs586240	0.87[ASN][1000 genomes]
rs586629	0.90[ASN][1000 genomes]
rs599761	0.92[ASN][1000 genomes]
rs612256	0.92[ASN][1000 genomes]
rs615805	0.92[ASN][1000 genomes]
rs616281	0.92[ASN][1000 genomes]
rs617652	0.83[ASN][1000 genomes]
rs631512	0.92[ASN][1000 genomes]
rs632295	0.92[ASN][1000 genomes]
rs632697	0.92[ASN][1000 genomes]
rs634946	0.92[ASN][1000 genomes]
rs635391	0.92[ASN][1000 genomes]
rs635397	0.92[ASN][1000 genomes]
rs635713	0.92[ASN][1000 genomes]
rs636210	0.92[ASN][1000 genomes]
rs647380	0.92[ASN][1000 genomes]
rs650216	0.92[ASN][1000 genomes]
rs663463	0.87[ASN][1000 genomes]
rs663901	0.87[ASN][1000 genomes]
rs664099	0.92[ASN][1000 genomes]
rs664412	0.87[ASN][1000 genomes]
rs6658643	0.92[ASN][1000 genomes]
rs6682503	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6703328	0.97[ASN][1000 genomes]
rs679256	0.92[ASN][1000 genomes]
rs680179	0.88[ASN][1000 genomes]
rs72716130	0.92[ASN][1000 genomes]
rs72958291	0.92[ASN][1000 genomes]
rs7411998	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	esv1797916	chr1:86529538-86556298	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86523000-86533800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:86527600-86530000	Weak transcription	Fetal Lung	lung
3	chr1:86528600-86533200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:86528600-86533200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:86528600-86534000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:86528800-86533000	Weak transcription	Osteobl	bone

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