Variant report

Variant	rs13265548
Chromosome Location	chr8:120205486-120205487
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120203920..120207370-chr8:120214031..120217579,4	MCF-7	breast:
2	chr8:120204603..120206693-chr8:120219311..120221243,2	MCF-7	breast:
3	chr8:120187373..120189536-chr8:120204658..120206608,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147676	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12542116	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs1364706	0.89[CEU][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1364709	0.91[CHB][hapmap];0.81[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1425054	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1425055	0.91[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2326217	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2326218	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2326219	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2326220	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2326221	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2432959	0.89[EUR][1000 genomes]
rs2432960	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2432961	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2465375	0.90[ASN][1000 genomes]
rs2465376	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2465378	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2465381	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2465382	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2468174	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2468177	0.91[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2468179	0.90[ASN][1000 genomes]
rs2468180	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2468181	0.91[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2468182	0.91[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2468183	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2468187	0.89[EUR][1000 genomes]
rs4871362	0.89[CEU][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4871372	0.83[EUR][1000 genomes]
rs4871416	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56271306	0.84[ASN][1000 genomes]
rs6469818	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6994957	0.89[CEU][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6999371	0.88[EUR][1000 genomes]
rs7825089	0.89[CEU][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7832277	0.91[CHB][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription 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	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs13265548	CPSF3	trans	cerebellum	SCAN
rs13265548	C8orf76	cis	cerebellum	SCAN
rs13265548	SNTB1	cis	cerebellum	SCAN
rs13265548	SLC30A8	cis	parietal	SCAN
rs13265548	MAL2	cis	cerebellum	SCAN
rs13265548	NOV	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120204800-120206200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:120205400-120205600	Enhancers	Brain Germinal Matrix	brain
3	chr8:120205400-120205800	Enhancers	Fetal Brain Female	brain
4	chr8:120205400-120206400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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