Variant report

Variant	rs3114944
Chromosome Location	chr2:187669887-187669888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10178617	1.00[ASN][1000 genomes]
rs10211436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13395234	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13407063	1.00[ASN][1000 genomes]
rs13413716	1.00[ASN][1000 genomes]
rs13422838	1.00[ASN][1000 genomes]
rs13430921	1.00[ASN][1000 genomes]
rs17406098	1.00[ASN][1000 genomes]
rs2122176	1.00[ASN][1000 genomes]
rs2442317	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2594700	1.00[ASN][1000 genomes]
rs2594701	1.00[ASN][1000 genomes]
rs2595380	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595381	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595382	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595391	1.00[ASN][1000 genomes]
rs2595392	1.00[ASN][1000 genomes]
rs2595394	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595398	1.00[ASN][1000 genomes]
rs2682850	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682851	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682855	1.00[ASN][1000 genomes]
rs2682857	1.00[ASN][1000 genomes]
rs2682862	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682875	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28616716	1.00[ASN][1000 genomes]
rs3114946	0.83[AFR][1000 genomes]
rs55666589	1.00[ASN][1000 genomes]
rs62196179	1.00[ASN][1000 genomes]
rs7424602	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7564965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581547	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv428069	chr2:187575692-187766209	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3495864	chr2:187633495-187686087	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3495865	chr2:187633495-187686087	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3446718	chr2:187663495-187686087	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
5	esv3345821	chr2:187663495-187692736	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187669800-187670000	Flanking Active TSS	Fetal Heart	heart
2	chr2:187669800-187670600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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