Variant report

Variant	rs12593012
Chromosome Location	chr15:93281392-93281393
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr15:93281309-93281397	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:93279332..93281428-chr15:93446156..93447922,2	K562	blood:

Variant related genes	Relation type
ENSG00000258741	TF binding region
ENSG00000173575	Chromatin interaction
ENSG00000264173	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10459705	0.90[EUR][1000 genomes]
rs10459706	0.90[EUR][1000 genomes]
rs10459707	0.90[EUR][1000 genomes]
rs11074097	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11074099	0.90[EUR][1000 genomes]
rs11074101	0.90[EUR][1000 genomes]
rs11637781	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12440115	0.90[EUR][1000 genomes]
rs2892383	0.90[EUR][1000 genomes]
rs62020768	0.86[ASN][1000 genomes]
rs62020769	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6496986	0.80[ASN][1000 genomes]
rs6496987	0.90[EUR][1000 genomes]
rs6496988	0.90[EUR][1000 genomes]
rs7170266	0.89[EUR][1000 genomes]
rs7170645	0.90[EUR][1000 genomes]
rs7175937	0.86[ASN][1000 genomes]
rs7177207	0.90[EUR][1000 genomes]
rs7178356	0.90[EUR][1000 genomes]
rs8024027	0.90[EUR][1000 genomes]
rs8031853	0.83[EUR][1000 genomes]
rs8038242	0.90[EUR][1000 genomes]
rs8040223	0.84[EUR][1000 genomes]
rs8041271	0.90[EUR][1000 genomes]
rs8041895	0.89[EUR][1000 genomes]
rs8042841	0.90[EUR][1000 genomes]
rs8043355	0.90[EUR][1000 genomes]
rs9672507	0.90[EUR][1000 genomes]
rs9672578	0.90[EUR][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	nsv904499	chr15:92914795-93472582	Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases
2	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
3	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
4	nsv1040501	chr15:93177153-93286393	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12593012	LOC400451	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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