Variant report

Variant	rs4131126
Chromosome Location	chr8:54218677-54218678
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10088416	0.93[ASN][1000 genomes]
rs10091452	0.93[ASN][1000 genomes]
rs10092984	0.93[ASN][1000 genomes]
rs10094550	0.93[ASN][1000 genomes]
rs10094903	0.93[ASN][1000 genomes]
rs10095049	0.93[ASN][1000 genomes]
rs10101249	0.93[ASN][1000 genomes]
rs11985025	0.82[AMR][1000 genomes]
rs11989664	0.81[AMR][1000 genomes]
rs11990775	0.93[ASN][1000 genomes]
rs11992913	0.93[ASN][1000 genomes]
rs11995645	0.81[AMR][1000 genomes]
rs16918909	0.94[MEX][hapmap]
rs2376417	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28368546	1.00[ASN][1000 genomes]
rs28497511	0.92[ASN][1000 genomes]
rs55692942	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56688789	0.92[ASN][1000 genomes]
rs58107215	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58363137	0.88[AMR][1000 genomes]
rs59824595	0.93[ASN][1000 genomes]
rs59876580	1.00[ASN][1000 genomes]
rs60064586	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61666049	0.93[ASN][1000 genomes]
rs6473802	0.97[ASN][1000 genomes]
rs6473803	0.94[ASN][1000 genomes]
rs6473804	0.97[ASN][1000 genomes]
rs6473805	0.97[ASN][1000 genomes]
rs6473806	0.97[ASN][1000 genomes]
rs6473807	0.91[ASN][1000 genomes]
rs6981186	0.93[ASN][1000 genomes]
rs6983218	0.92[ASN][1000 genomes]
rs6984000	0.93[ASN][1000 genomes]
rs6988566	0.93[ASN][1000 genomes]
rs6988589	0.91[ASN][1000 genomes]
rs6990680	0.93[ASN][1000 genomes]
rs6991236	1.00[ASN][1000 genomes]
rs6991600	0.98[ASN][1000 genomes]
rs6991749	0.98[ASN][1000 genomes]
rs6994070	0.93[ASN][1000 genomes]
rs6996899	0.93[ASN][1000 genomes]
rs7001899	0.92[ASN][1000 genomes]
rs7011197	0.93[ASN][1000 genomes]
rs7011684	0.93[ASN][1000 genomes]
rs7015924	0.93[ASN][1000 genomes]
rs7016942	0.93[ASN][1000 genomes]
rs7017919	0.93[ASN][1000 genomes]
rs73588563	0.93[ASN][1000 genomes]
rs73679713	0.88[AMR][1000 genomes]
rs73679716	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73679730	0.82[AMR][1000 genomes]
rs7461559	0.93[ASN][1000 genomes]
rs7462232	0.88[AMR][1000 genomes]
rs7463912	0.93[ASN][1000 genomes]
rs7465082	0.86[AMR][1000 genomes]
rs7813768	0.92[ASN][1000 genomes]
rs7814249	0.93[ASN][1000 genomes]
rs7816572	0.92[ASN][1000 genomes]
rs7817965	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7818414	0.93[ASN][1000 genomes]
rs7839485	0.81[AMR][1000 genomes]
rs7840171	0.89[ASN][1000 genomes]
rs7841400	0.93[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	nsv1016224	chr8:53719941-54367534	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv530534	chr8:53787984-54367353	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3377304	chr8:53873441-54380875	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2752674	chr8:54181147-54483747	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4131126	MRPL15	cis	cerebellum	SCAN
rs4131126	CHCHD7	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54218200-54222600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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