Variant report

Variant	rs12227531
Chromosome Location	chr12:4234246-4234247
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	chr12:4233959..4236764-chr12:4382613..4384421,2	K562	blood:

Variant related genes	Relation type
ENSG00000255920	Chromatin interaction
ENSG00000118971	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10848979	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10848983	0.83[AMR][1000 genomes]
rs10848984	0.83[AMR][1000 genomes]
rs11063004	0.83[AMR][1000 genomes]
rs11063007	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11063008	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11063009	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12228949	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12229320	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12230013	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12230033	0.93[AMR][1000 genomes]
rs12579541	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12579556	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12579813	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2110592	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2160160	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2160161	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2358836	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2358837	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3889565	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4766207	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4766208	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4766209	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4766211	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58334161	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59428290	0.83[AMR][1000 genomes]
rs59759498	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59925288	0.84[AMR][1000 genomes]
rs60789908	0.86[AMR][1000 genomes]
rs61269540	0.84[AMR][1000 genomes]
rs6489518	0.82[EUR][1000 genomes]
rs7136346	0.82[EUR][1000 genomes]
rs759306	0.83[AMR][1000 genomes]
rs9634153	0.87[AMR][1000 genomes];0.82[EUR][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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1050474	chr12:4226760-4389238	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr12:4227200-4252000	Weak transcription	Pancreas	Pancrea
2	chr12:4229200-4245000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:4232800-4241800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:4234000-4235600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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