Variant report

Variant	rs12082524
Chromosome Location	chr1:171141409-171141410
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10912500	0.96[AFR][1000 genomes]
rs10912559	1.00[AMR][1000 genomes]
rs10912597	1.00[AMR][1000 genomes]
rs10912623	0.92[AFR][1000 genomes]
rs12062612	1.00[AMR][1000 genomes]
rs12070707	1.00[AMR][1000 genomes]
rs12072582	1.00[AMR][1000 genomes]
rs12073562	1.00[AMR][1000 genomes]
rs12085769	0.92[AFR][1000 genomes]
rs12354013	1.00[AMR][1000 genomes]
rs12354030	1.00[AMR][1000 genomes]
rs56910253	0.88[AFR][1000 genomes]
rs6656513	0.92[AFR][1000 genomes]
rs6661174	1.00[AMR][1000 genomes]
rs6664553	1.00[AMR][1000 genomes]
rs6671692	1.00[AMR][1000 genomes]
rs6672456	1.00[AMR][1000 genomes]
rs6689816	0.92[AFR][1000 genomes]
rs6701657	0.92[AFR][1000 genomes]
rs6701702	1.00[AMR][1000 genomes]
rs7054006	1.00[AMR][1000 genomes]
rs73030605	1.00[AMR][1000 genomes]
rs73032550	0.92[AFR][1000 genomes]
rs73032556	0.92[AFR][1000 genomes]
rs73032574	0.92[AFR][1000 genomes]
rs7517460	1.00[AMR][1000 genomes]
rs7536646	1.00[AMR][1000 genomes]
rs7536745	1.00[AMR][1000 genomes]
rs7552423	0.92[AFR][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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171137800-171142200	Weak transcription	Stomach Mucosa	stomach
2	chr1:171139000-171142800	Enhancers	Fetal Lung	lung
3	chr1:171139800-171142200	Weak transcription	NHLF	lung
4	chr1:171141200-171142200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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