Variant report

Variant	rs10912500
Chromosome Location	chr1:171148421-171148422
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10399740	1.00[AMR][1000 genomes]
rs10912599	1.00[AMR][1000 genomes]
rs10912623	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12061893	1.00[AMR][1000 genomes]
rs12066832	1.00[AMR][1000 genomes]
rs12070707	0.86[YRI][hapmap]
rs12071161	1.00[AMR][1000 genomes]
rs12075699	1.00[AMR][1000 genomes]
rs12077760	0.81[AFR][1000 genomes]
rs12082524	0.96[AFR][1000 genomes]
rs12085769	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3738813	0.81[YRI][hapmap]
rs56910253	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6656513	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6689816	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6701657	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73028643	1.00[AMR][1000 genomes]
rs73032550	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032556	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032574	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032600	1.00[AMR][1000 genomes]
rs73034309	1.00[AMR][1000 genomes]
rs7552423	1.00[ASW][hapmap];0.83[LWK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7883579	1.00[AMR][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	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171143800-171153200	Weak transcription	Fetal Lung	lung
2	chr1:171148200-171153400	Weak transcription	Aorta	Aorta

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