Variant report

Variant	rs1526555
Chromosome Location	chr7:11806289-11806290
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10265139	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10276715	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10499405	0.87[ASW][hapmap];1.00[CEU][hapmap];0.92[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10950366	1.00[CEU][hapmap];0.82[CHD][hapmap];0.88[GIH][hapmap];0.93[JPT][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12667493	1.00[CEU][hapmap];0.92[CHD][hapmap];0.88[GIH][hapmap];0.93[JPT][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12667512	1.00[CEU][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12671899	1.00[CEU][hapmap];0.92[CHD][hapmap];0.88[GIH][hapmap];0.93[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12673487	0.82[ASN][1000 genomes]
rs1465007	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1465008	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1467344	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1467345	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1526518	0.92[ASN][1000 genomes]
rs1526521	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1526522	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1526532	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1526533	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1534234	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17165146	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17165147	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17165166	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17165172	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17165181	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2355076	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2355077	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2355085	0.92[ASN][1000 genomes]
rs2883592	0.82[ASN][1000 genomes]
rs4236265	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4506091	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4721008	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4721010	1.00[CEU][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55668447	0.83[ASN][1000 genomes]
rs55709709	0.83[ASN][1000 genomes]
rs55786242	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55860284	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56020952	0.83[ASN][1000 genomes]
rs56310669	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56835192	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57417976	0.81[ASN][1000 genomes]
rs57623191	0.83[ASN][1000 genomes]
rs57645050	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57822376	0.82[ASN][1000 genomes]
rs58325377	0.82[ASN][1000 genomes]
rs58747700	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60211624	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60510202	0.82[ASN][1000 genomes]
rs62433414	0.84[ASN][1000 genomes]
rs6460838	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6460839	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66741322	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66784951	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66791240	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66894282	0.83[ASN][1000 genomes]
rs67195807	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67255535	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67388503	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67907409	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs68076870	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6957349	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6960116	1.00[CEU][hapmap];0.92[CHD][hapmap];0.88[GIH][hapmap];0.93[JPT][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6973826	1.00[CEU][hapmap];0.93[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6973931	1.00[CEU][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73057039	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73298449	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7788213	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7795628	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7802597	1.00[CEU][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9691513	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9691520	1.00[CEU][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs999879	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs999880	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv887612	chr7:11756776-11806289	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv887613	chr7:11766964-11806289	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv887614	chr7:11778424-12211198	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv830905	chr7:11793513-11941594	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1526555	ETV1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11800400-11811200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr7:11805800-11807800	Enhancers	A549	lung

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