Variant report

Variant	rs13129226
Chromosome Location	chr4:47439503-47439504
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: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10938485	0.89[EUR][1000 genomes]
rs10938486	0.91[EUR][1000 genomes]
rs11729677	0.99[EUR][1000 genomes]
rs12645143	0.91[EUR][1000 genomes]
rs13103660	0.99[EUR][1000 genomes]
rs13115740	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13140559	0.94[EUR][1000 genomes]
rs16860200	1.00[ASN][1000 genomes]
rs28409227	0.91[EUR][1000 genomes]
rs28436205	0.99[EUR][1000 genomes]
rs28572263	0.99[EUR][1000 genomes]
rs28588386	0.99[EUR][1000 genomes]
rs28589873	0.87[EUR][1000 genomes]
rs34022241	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34096542	0.83[EUR][1000 genomes]
rs35143328	0.96[EUR][1000 genomes]
rs35197130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35293354	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35796318	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4070	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4235149	0.96[EUR][1000 genomes]
rs4235150	0.97[EUR][1000 genomes]
rs4349580	0.96[EUR][1000 genomes]
rs4435723	0.99[EUR][1000 genomes]
rs4510445	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4532215	0.99[EUR][1000 genomes]
rs4585276	0.99[EUR][1000 genomes]
rs4694849	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695233	0.97[EUR][1000 genomes]
rs4695234	0.97[EUR][1000 genomes]
rs59268722	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6447553	0.95[EUR][1000 genomes]
rs6447554	0.95[EUR][1000 genomes]
rs6843791	0.87[EUR][1000 genomes]
rs71611998	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73237075	1.00[ASN][1000 genomes]
rs73237093	1.00[ASN][1000 genomes]
rs73238618	1.00[ASN][1000 genomes]
rs9993271	0.99[EUR][1000 genomes]
rs9998984	0.99[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	chr4:47436200-47444800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:47436800-47465000	Weak transcription	Gastric	stomach
3	chr4:47437000-47441800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr4:47438600-47464200	Weak transcription	Small Intestine	intestine

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