Variant report

Variant	rs1991596
Chromosome Location	chr2:183379073-183379074
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10174383	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10175845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497605	1.00[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10931016	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11678804	0.99[ASN][1000 genomes]
rs11883669	0.89[JPT][hapmap]
rs11884886	0.88[JPT][hapmap]
rs11892848	0.88[JPT][hapmap]
rs12464556	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12466615	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12474760	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13020976	0.94[ASN][1000 genomes]
rs1430145	0.88[JPT][hapmap]
rs1430150	0.94[JPT][hapmap]
rs1594305	0.96[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16823317	0.92[CEU][hapmap]
rs17265294	0.94[JPT][hapmap]
rs2082134	0.99[ASN][1000 genomes]
rs2082136	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2099185	0.88[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs2115863	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2303890	0.89[JPT][hapmap]
rs2368297	0.89[JPT][hapmap]
rs2368298	0.89[JPT][hapmap]
rs2368299	0.89[JPT][hapmap]
rs2887208	0.94[JPT][hapmap]
rs2887217	0.94[JPT][hapmap]
rs2887218	1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs3754928	0.94[ASN][1000 genomes]
rs4629124	0.94[JPT][hapmap]
rs4666587	0.88[JPT][hapmap]
rs4666846	0.89[JPT][hapmap]
rs4666851	0.81[ASN][1000 genomes]
rs4666852	0.99[ASN][1000 genomes]
rs6740226	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6758298	0.81[ASN][1000 genomes]
rs72625269	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7563753	0.88[JPT][hapmap]
rs7578703	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs7601804	0.88[JPT][hapmap]
rs7606875	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9332425	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9789764	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183361600-183392000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:183371800-183384600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:183376600-183387200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:183377000-183385000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:183378200-183381200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:183378200-183381200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:183379000-183384800	Weak transcription	Primary hematopoietic stem cells	blood

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