Variant report

Variant	rs7759592
Chromosome Location	chr6:24642447-24642448
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	chr6:24631955..24633608-chr6:24642009..24643989,2	K562	blood:
2	chr6:24642241..24644799-chr6:24665423..24667022,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111802	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1555089	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1555090	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1883592	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1883594	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2038135	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2038136	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2038137	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2038138	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2038139	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2143341	0.82[ASN][1000 genomes]
rs2143342	0.82[ASN][1000 genomes]
rs2179515	0.82[ASN][1000 genomes]
rs2206525	0.89[ASN][1000 genomes]
rs2223590	0.90[ASN][1000 genomes]
rs2235677	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2328846	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4712835	0.90[ASN][1000 genomes]
rs6456622	0.90[ASN][1000 genomes]
rs6456624	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6903205	0.90[ASN][1000 genomes]
rs6903738	0.90[ASN][1000 genomes]
rs6906247	0.90[ASN][1000 genomes]
rs6917660	0.82[ASN][1000 genomes]
rs6923143	0.90[ASN][1000 genomes]
rs6923652	0.90[ASN][1000 genomes]
rs6923845	0.90[ASN][1000 genomes]
rs6923867	0.90[ASN][1000 genomes]
rs6935753	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6938069	0.82[ASN][1000 genomes]
rs6938411	0.82[ASN][1000 genomes]
rs761100	0.90[ASN][1000 genomes]
rs761101	0.90[ASN][1000 genomes]
rs7741572	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7751357	0.82[ASN][1000 genomes]
rs7755579	0.86[EUR][1000 genomes]
rs7759417	0.92[EUR][1000 genomes]
rs7759747	0.90[ASN][1000 genomes]
rs7760198	0.90[ASN][1000 genomes]
rs9356940	0.87[ASN][1000 genomes]
rs9356941	0.90[ASN][1000 genomes]
rs9358777	0.86[ASN][1000 genomes]
rs9358778	0.86[ASN][1000 genomes]
rs9358780	0.83[ASN][1000 genomes]
rs9358783	0.90[ASN][1000 genomes]
rs9358784	0.90[ASN][1000 genomes]
rs9366573	0.82[ASN][1000 genomes]
rs9366574	0.86[ASN][1000 genomes]
rs9366575	0.90[ASN][1000 genomes]
rs9366576	0.90[ASN][1000 genomes]
rs9379676	0.86[ASN][1000 genomes]
rs9379678	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9393570	0.86[ASN][1000 genomes]
rs9393571	0.86[ASN][1000 genomes]
rs9461044	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9467244	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9467245	0.80[EUR][1000 genomes];0.86[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	esv3508002	chr6:24618580-24732946	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv3508003	chr6:24618580-24732946	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv601164	chr6:24625091-24661599	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv601165	chr6:24632642-24666007	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7759592	KIAA0319	cis	lung	GTEx
rs7759592	KIAA0319	cis	Whole Blood	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24632200-24644000	Weak transcription	A549	lung
2	chr6:24641200-24643800	Weak transcription	Hela-S3	cervix
3	chr6:24642400-24645600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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