Variant report

Variant	rs4094863
Chromosome Location	chr12:30499699-30499700
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10771699	0.82[EUR][1000 genomes]
rs10771700	0.82[EUR][1000 genomes]
rs10771703	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10843729	0.95[ASN][1000 genomes]
rs10843730	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10843732	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11050839	0.95[ASN][1000 genomes]
rs11050840	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11050841	0.95[ASN][1000 genomes]
rs11050842	0.95[ASN][1000 genomes]
rs11050843	0.95[ASN][1000 genomes]
rs11050844	0.95[ASN][1000 genomes]
rs11050845	0.95[ASN][1000 genomes]
rs11050846	0.95[ASN][1000 genomes]
rs12579317	0.95[ASN][1000 genomes]
rs12579379	0.95[ASN][1000 genomes]
rs1262338	0.81[EUR][1000 genomes]
rs1588009	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1588011	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1896906	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2195542	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2351471	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2564585	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354128	0.91[ASN][1000 genomes]
rs354134	0.82[EUR][1000 genomes]
rs354137	0.81[EUR][1000 genomes]
rs354153	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4032080	0.81[EUR][1000 genomes]
rs6487902	0.95[ASN][1000 genomes]
rs6487906	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7138814	0.95[ASN][1000 genomes]
rs7139058	0.95[ASN][1000 genomes]
rs7139191	0.95[ASN][1000 genomes]
rs7139306	0.95[ASN][1000 genomes]
rs7309482	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7962895	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832360	chr12:30393329-30555693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	esv11198	chr12:30496609-30508640	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv20294	chr12:30498226-30501743	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30498200-30501400	Enhancers	Fetal Heart	heart

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