Variant report

Variant	rs12073562
Chromosome Location	chr1:171082759-171082760
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10399740	0.85[AFR][1000 genomes]
rs10912559	1.00[AMR][1000 genomes]
rs10912597	1.00[AMR][1000 genomes]
rs12061893	0.90[AFR][1000 genomes]
rs12062612	1.00[AMR][1000 genomes]
rs12066832	0.85[AFR][1000 genomes]
rs12070707	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12071161	0.85[AFR][1000 genomes]
rs12072582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12075699	0.85[AFR][1000 genomes]
rs12082524	1.00[AMR][1000 genomes]
rs12354013	1.00[AMR][1000 genomes]
rs12354030	1.00[AMR][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]
rs6701702	1.00[AMR][1000 genomes]
rs7054006	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73028643	0.95[AFR][1000 genomes]
rs73030605	1.00[AMR][1000 genomes]
rs7517460	1.00[AMR][1000 genomes]
rs7536646	1.00[AMR][1000 genomes]
rs7536745	1.00[AMR][1000 genomes]
rs7552423	0.86[YRI][hapmap]
rs7883579	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171079600-171082800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:171080200-171083200	Weak transcription	Aorta	Aorta
3	chr1:171080800-171083200	Weak transcription	Right Atrium	heart
4	chr1:171080800-171086200	Weak transcription	Fetal Stomach	stomach
5	chr1:171081000-171083400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:171081200-171083200	Weak transcription	Adipose Nuclei	Adipose
7	chr1:171081400-171085800	Weak transcription	Fetal Lung	lung
8	chr1:171081600-171083400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:171082000-171083400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:171082000-171084400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:171082200-171083200	Enhancers	NHLF	lung
12	chr1:171082200-171087800	Genic enhancers	Liver	Liver
13	chr1:171082400-171082800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:171082400-171083000	Enhancers	Osteobl	bone
15	chr1:171082400-171083200	Enhancers	Muscle Satellite Cultured Cells	--

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