Variant report

Variant	rs4666588
Chromosome Location	chr2:183417707-183417708
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10182788	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11690729	0.87[ASN][1000 genomes]
rs1527878	0.80[EUR][1000 genomes]
rs1918700	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1965089	0.82[EUR][1000 genomes]
rs35960621	0.81[ASN][1000 genomes]
rs4490143	0.85[EUR][1000 genomes]
rs60420748	0.87[ASN][1000 genomes]
rs6711313	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747954	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72892739	0.90[ASN][1000 genomes]
rs72892751	0.90[ASN][1000 genomes]
rs72892758	0.87[ASN][1000 genomes]
rs7563329	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2830429	chr2:183300759-183545378	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183415400-183418000	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr2:183417000-183418400	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:183417000-183418400	Weak transcription	Brain Substantia Nigra	brain
4	chr2:183417400-183417800	Enhancers	Brain Anterior Caudate	brain
5	chr2:183417600-183417800	Enhancers	Brain Angular Gyrus	brain
6	chr2:183417600-183418200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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