Variant report

Variant	rs12912245
Chromosome Location	chr15:79039464-79039465
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11072800	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11632672	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11633152	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11852909	0.85[ASN][1000 genomes]
rs12148817	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12899201	0.89[ASN][1000 genomes]
rs12901228	0.84[ASN][1000 genomes]
rs12904489	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12906022	0.83[ASN][1000 genomes]
rs12906165	0.83[ASN][1000 genomes]
rs12906835	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12906847	0.89[ASN][1000 genomes]
rs12906977	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12907207	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12907432	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12907536	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12910831	0.89[AMR][1000 genomes]
rs12913779	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12917502	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1383634	0.90[ASN][1000 genomes]
rs1383635	0.87[ASN][1000 genomes]
rs1825086	0.90[ASN][1000 genomes]
rs1904920	0.87[ASN][1000 genomes]
rs2017091	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2017297	0.90[ASN][1000 genomes]
rs2219939	0.85[ASN][1000 genomes]
rs2622821	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4887091	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4887092	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71402966	0.81[ASN][1000 genomes]
rs7182567	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7182694	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7182993	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs755998	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs8030090	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs8030335	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv974606	chr15:78996783-79048337	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv904431	chr15:79006442-79155088	Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv3310945	chr15:79036897-79041395	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
5	esv3310944	chr15:79037922-79040770	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
6	esv3310946	chr15:79037922-79040770	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
7	esv3378980	chr15:79038147-79040545	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12912245	RP11-650L12.2	cis	Muscle Skeletal	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79033000-79045000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:79033400-79040400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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