Variant report

Variant	rs1493301
Chromosome Location	chr8:86349235-86349236
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	chr8:86348746..86351284-chr8:86374911..86377490,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253549	Chromatin interaction
ENSG00000104267	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1021457	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1021458	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777530	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780942	1.00[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13265202	1.00[ASN][1000 genomes]
rs13274009	1.00[ASN][1000 genomes]
rs1389246	1.00[ASN][1000 genomes]
rs1472200	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17741410	1.00[ASN][1000 genomes]
rs17814075	0.82[YRI][hapmap];1.00[ASN][1000 genomes]
rs17814183	1.00[ASN][1000 genomes]
rs17814255	1.00[ASN][1000 genomes]
rs17814594	1.00[ASN][1000 genomes]
rs1979694	1.00[ASN][1000 genomes]
rs2101706	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2201258	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2466764	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645050	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[ASN][1000 genomes]
rs2645052	0.80[AMR][1000 genomes]
rs2725292	0.84[CEU][hapmap];0.91[GIH][hapmap];0.93[MKK][hapmap];0.82[YRI][hapmap]
rs2725295	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[ASN][1000 genomes]
rs2725296	0.84[CEU][hapmap];0.82[YRI][hapmap]
rs359523	1.00[ASN][1000 genomes]
rs359526	1.00[ASN][1000 genomes]
rs359530	1.00[ASN][1000 genomes]
rs359536	1.00[ASN][1000 genomes]
rs36054079	1.00[ASN][1000 genomes]
rs370167	1.00[ASN][1000 genomes]
rs384656	1.00[ASN][1000 genomes]
rs385064	1.00[ASN][1000 genomes]
rs393828	1.00[ASN][1000 genomes]
rs395964	1.00[ASN][1000 genomes]
rs404123	1.00[ASN][1000 genomes]
rs406858	1.00[ASN][1000 genomes]
rs407320	1.00[ASN][1000 genomes]
rs411276	1.00[ASN][1000 genomes]
rs413449	1.00[ASN][1000 genomes]
rs414354	1.00[ASN][1000 genomes]
rs414922	1.00[ASN][1000 genomes]
rs415199	0.82[YRI][hapmap];1.00[ASN][1000 genomes]
rs422914	1.00[ASN][1000 genomes]
rs427285	1.00[ASN][1000 genomes]
rs435449	1.00[ASN][1000 genomes]
rs438730	1.00[ASN][1000 genomes]
rs443177	1.00[ASN][1000 genomes]
rs447131	1.00[ASN][1000 genomes]
rs4740052	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56698727	1.00[ASN][1000 genomes]
rs62512497	1.00[ASN][1000 genomes]
rs62512498	1.00[ASN][1000 genomes]
rs62527221	1.00[ASN][1000 genomes]
rs62527224	1.00[ASN][1000 genomes]
rs650498	1.00[ASN][1000 genomes]
rs6605618	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6605621	1.00[ASN][1000 genomes]
rs663323	1.00[ASN][1000 genomes]
rs6984702	1.00[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990339	1.00[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6994366	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999266	1.00[ASN][1000 genomes]
rs7817747	1.00[ASN][1000 genomes]
rs7823943	1.00[ASN][1000 genomes]
rs7844166	1.00[ASN][1000 genomes]
rs981495	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024759	chr8:86162507-86361533	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539659	chr8:86162507-86361533	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1022463	chr8:86257031-86547831	Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1804888	chr8:86263098-86986703	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv831377	chr8:86263107-86444141	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028148	chr8:86310570-86553130	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	esv2761206	chr8:86310582-86468868	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1493301	C8orf59	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86344200-86349600	Weak transcription	NHEK	skin
2	chr8:86344200-86350200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:86344400-86350200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:86347400-86349800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr8:86348200-86349600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:86348200-86349600	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:86348400-86349600	Weak transcription	Psoas Muscle	Psoas
8	chr8:86348600-86349400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:86348800-86350200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:86349000-86350000	Weak transcription	Liver	Liver

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