Variant report

Variant	rs2004323
Chromosome Location	chr2:114109977-114109978
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11894313	0.80[EUR][1000 genomes]
rs2001351	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2863958	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4088308	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55637730	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55769337	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55895659	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56082174	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56088998	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56111627	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56215109	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59766856	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60409272	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60522356	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60600282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62158165	0.89[EUR][1000 genomes]
rs6710412	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72611917	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72611918	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72611919	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72611921	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72611922	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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	esv2757826	chr2:114074949-114253780	Enhancers Strong transcription Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2759085	chr2:114074949-114428678	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114098200-114114800	Weak transcription	NHEK	skin
2	chr2:114099400-114116000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:114100400-114113200	Weak transcription	Fetal Stomach	stomach
4	chr2:114101800-114115000	Weak transcription	HMEC	breast
5	chr2:114101800-114116000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:114105400-114110600	Strong transcription	A549	lung
7	chr2:114106800-114129800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:114108400-114113800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:114108400-114113800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:114108600-114116200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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