Variant report

Variant	rs245491
Chromosome Location	chr5:57633855-57633856
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:57633495..57635732-chr5:57754528..57757073,2	MCF-7	breast:
2	chr5:57632573..57635703-chr5:57754425..57757098,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145632	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs151807	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs151913	0.92[CEU][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs151914	0.91[JPT][hapmap]
rs152011	0.96[CEU][hapmap];0.83[JPT][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs152012	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1651127	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs173425	0.83[CHB][hapmap]
rs181764	0.91[JPT][hapmap]
rs184999	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs185425	0.82[TSI][hapmap]
rs190304	0.88[JPT][hapmap]
rs245278	0.82[CHB][hapmap]
rs245481	0.91[JPT][hapmap]
rs245494	0.96[CEU][hapmap];0.95[TSI][hapmap]
rs246113	0.87[GIH][hapmap]
rs2910578	0.84[JPT][hapmap]
rs2910606	0.81[JPT][hapmap]
rs37518	0.81[JPT][hapmap]
rs37535	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs37537	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs37538	0.85[EUR][1000 genomes]
rs41385	0.80[JPT][hapmap]
rs42964	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7715909	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3489100	chr5:57545689-57669673	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv3489101	chr5:57545689-57669673	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs245491	SKIV2L2	cis	parietal	SCAN
rs245491	GAPT	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57627200-57634000	Weak transcription	Aorta	Aorta
2	chr5:57630400-57634600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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