Variant report

Variant	rs2345043
Chromosome Location	chr4:62647908-62647909
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10000772	0.95[EUR][1000 genomes]
rs10006513	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10015258	0.95[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10017044	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1031341	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11734607	0.85[GIH][hapmap]
rs11735887	0.90[ASN][1000 genomes]
rs12509742	1.00[CEU][hapmap];0.98[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs13122879	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1376306	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1376307	1.00[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1450901	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1470721	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17090543	0.87[GIH][hapmap]
rs1817052	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1901223	0.96[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes]
rs2122640	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2122643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167280	1.00[EUR][1000 genomes]
rs2345044	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2345045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2345046	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2345047	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2345048	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2345049	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28735546	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28861113	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4487384	0.99[EUR][1000 genomes]
rs4493573	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4860104	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4860434	1.00[CEU][hapmap];0.80[CHB][hapmap];0.99[EUR][1000 genomes]
rs4860435	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6818785	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6855424	0.98[EUR][1000 genomes]
rs7656882	1.00[CEU][hapmap];0.84[CHB][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs969965	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9942184	0.89[GIH][hapmap]

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	nsv461377	chr4:62368762-62883431	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv594328	chr4:62368762-62883431	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv829949	chr4:62615637-62761629	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr4:62637600-62656000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:62641000-62654200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:62646400-62648000	Weak transcription	Fetal Brain Male	brain
4	chr4:62646400-62652200	Weak transcription	Brain Angular Gyrus	brain
5	chr4:62647400-62648000	Enhancers	Fetal Heart	heart
6	chr4:62647400-62648200	Enhancers	Fetal Lung	lung
7	chr4:62647400-62648400	Enhancers	Brain Germinal Matrix	brain
8	chr4:62647600-62648200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr4:62647800-62648000	Enhancers	Brain Substantia Nigra	brain
10	chr4:62647800-62648000	Enhancers	Fetal Brain Female	brain

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