Variant report

Variant	rs7672333
Chromosome Location	chr4:47438499-47438500
allele	C/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: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10004682	0.81[EUR][1000 genomes]
rs10016916	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10017560	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10028945	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10470771	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10938484	0.80[EUR][1000 genomes]
rs11934717	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11940241	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12510975	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13434696	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16860198	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28625886	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28631883	0.81[EUR][1000 genomes]
rs4130363	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4388055	0.81[EUR][1000 genomes]
rs4403019	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4446282	0.81[EUR][1000 genomes]
rs4450898	0.81[EUR][1000 genomes]
rs62297852	0.91[ASN][1000 genomes]
rs62297855	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62297856	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62297858	0.94[ASN][1000 genomes]
rs62300077	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62300078	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234555	0.94[ASN][1000 genomes]
rs73234578	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234586	0.88[ASN][1000 genomes]
rs73234587	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7436716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7678771	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7679148	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9942270	0.80[EUR][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:4 , 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

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