Variant report

Variant	rs58334161
Chromosome Location	chr12:4235421-4235422
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	chr12:4235187..4238006-chr12:4244480..4246170,2	K562	blood:
2	chr12:4233959..4236764-chr12:4382613..4384421,2	K562	blood:

Variant related genes	Relation type
ENSG00000118971	Chromatin interaction
ENSG00000255920	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10774193	0.87[EUR][1000 genomes]
rs10774197	0.89[EUR][1000 genomes]
rs10848976	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10848978	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10848979	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10848981	0.89[EUR][1000 genomes]
rs10848982	0.89[EUR][1000 genomes]
rs10848983	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10848984	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10848985	0.89[EUR][1000 genomes]
rs10848986	0.86[ASN][1000 genomes]
rs11062989	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11062992	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11062999	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11063000	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11063002	0.88[EUR][1000 genomes]
rs11063003	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11063004	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11063007	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11063008	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11063009	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11063013	0.81[ASN][1000 genomes]
rs12227531	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12228949	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12229320	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12230013	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230033	0.80[AMR][1000 genomes]
rs12231207	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12579541	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12579556	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12579813	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978311	0.88[ASN][1000 genomes]
rs2003578	0.89[EUR][1000 genomes]
rs2003579	0.89[EUR][1000 genomes]
rs2072497	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2110592	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2160160	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2160161	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2358594	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2358836	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2358837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2540139	0.83[EUR][1000 genomes]
rs3889565	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4765762	0.82[AMR][1000 genomes]
rs4765767	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4765769	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4766207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4766208	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4766209	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59428290	0.87[AMR][1000 genomes]
rs59759498	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59925288	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60789908	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61269540	0.88[AMR][1000 genomes]
rs6489518	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7136346	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7137733	0.87[ASN][1000 genomes]
rs741243	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs741244	0.88[EUR][1000 genomes]
rs741245	0.88[EUR][1000 genomes]
rs759306	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs759312	0.88[EUR][1000 genomes]
rs7967520	0.89[EUR][1000 genomes]
rs7975418	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs873613	0.84[EUR][1000 genomes]
rs9634153	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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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