Variant report

Variant	rs28419082
Chromosome Location	chr4:47438912-47438913
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:47437562..47440498-chr4:47441242..47443779,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GABRB1-1	chr4:47433977-47440976	ENSG00000260918.1
2	lnc-GABRB1-1	chr4:47438484-47440426	NONHSAT096250

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10010080	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10012665	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10013564	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10016116	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10016711	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10017635	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10020234	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10020578	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10023931	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10024088	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10025348	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10028747	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10031409	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10032089	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28401446	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs28420192	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28437469	0.90[AFR][1000 genomes]
rs28463624	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs28589311	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs28657923	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs28687404	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4408937	0.96[AFR][1000 genomes]
rs55734368	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56318530	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57637672	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57663033	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58111381	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58467459	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58773051	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs60201780	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60226159	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60707722	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs60744249	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs60950802	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60981397	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61111807	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6812797	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6849185	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73813534	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73813544	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73813545	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73813546	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7656397	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7660975	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7664395	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7664827	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7665847	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7669793	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7681754	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7682167	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7686306	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7695644	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9990574	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9995173	0.89[AMR][1000 genomes]
rs9998398	0.89[AMR][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	nsv998919	chr4:47207023-47476876	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv879005	chr4:47408838-47548254	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv829923	chr4:47436139-47678443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47404000-47439000	Weak transcription	Brain Anterior Caudate	brain
2	chr4:47436200-47444800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:47436800-47465000	Weak transcription	Gastric	stomach
4	chr4:47437000-47441800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr4:47438600-47464200	Weak transcription	Small Intestine	intestine

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