Variant report

Variant	rs2543047
Chromosome Location	chr8:39819666-39819667
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:39812516..39814691-chr8:39819351..39821566,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10085935	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10113563	0.88[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10216901	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10504013	0.84[CEU][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10755980	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10958573	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10958574	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11773909	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11773975	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11777082	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11779313	0.81[EUR][1000 genomes]
rs11779697	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11779700	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11781217	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11786337	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11787388	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11787449	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11992749	0.84[CEU][hapmap];0.86[JPT][hapmap];0.84[TSI][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11994259	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2052377	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2052379	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2111741	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2160860	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2340952	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2543042	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2543044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2543046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2543049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2543050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2729456	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2729459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2729460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2729462	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2729476	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28841363	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35995308	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3739319	0.81[CEU][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs55698142	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55818481	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55992954	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56045817	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56838465	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59312250	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59445010	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62512638	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6474194	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6474195	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6474196	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6983463	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6983940	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6984887	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7000868	0.80[CEU][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7003411	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7013824	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7824841	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7828760	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7832080	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7839881	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7839885	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7845003	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7845418	0.89[EUR][1000 genomes];0.89[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	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1033371	chr8:39749437-39899540	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr8:39818200-39824400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr8:39818600-39819800	Enhancers	Primary B cells from peripheral blood	blood
3	chr8:39819000-39821200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:39819200-39820400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr8:39819200-39820600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:39819400-39820200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr8:39819600-39820000	Enhancers	GM12878-XiMat	blood

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