Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10850802	0.86[AMR][1000 genomes]
rs10850803	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12425008	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2271986	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293045	0.83[AMR][1000 genomes]
rs4766836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766837	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4767523	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315796	0.83[AMR][1000 genomes]
rs73206094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73206097	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs904657	0.80[AMR][1000 genomes]
rs9658472	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9658490	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9658517	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9658525	0.91[EUR][1000 genomes]
rs9658536	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9658546	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9658556	0.86[EUR][1000 genomes]
rs9658570	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv510592	chr12:117618872-117684713	Bivalent/Poised TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117651800-117696000	Weak transcription	Brain Anterior Caudate	brain
2	chr12:117658200-117678200	Weak transcription	Pancreas	Pancrea
3	chr12:117660000-117727400	Weak transcription	Psoas Muscle	Psoas
4	chr12:117666200-117704200	Weak transcription	Brain Angular Gyrus	brain
5	chr12:117670000-117687800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:117671200-117674200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:117671800-117673000	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:117671800-117673200	Strong transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:117672000-117673000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:117672000-117673200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:117672400-117674800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr12:117672400-117674800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:117672400-117675200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:117672600-117674600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:117672600-117680000	Weak transcription	NHEK	skin
16	chr12:117672800-117674200	Enhancers	HUES48 Cell Line	embryonic stem cell

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