Variant report

Variant	rs2618473
Chromosome Location	chr8:11344127-11344128
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:118857357..118859002-chr8:11343082..11345568,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs13256690	0.82[ASN][1000 genomes]
rs13277113	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1382568	0.96[ASN][1000 genomes]
rs1478887	0.88[ASN][1000 genomes]
rs1478895	0.88[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs1478900	0.82[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs1478901	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1531577	0.81[ASN][1000 genomes]
rs1564267	0.88[CHB][hapmap];0.84[JPT][hapmap]
rs1600249	0.88[CHB][hapmap]
rs2061831	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2244234	0.83[CHB][hapmap]
rs2250412	0.84[JPT][hapmap]
rs2250788	0.85[ASN][1000 genomes]
rs2251056	0.88[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2254546	0.86[ASN][1000 genomes]
rs2254660	0.84[ASN][1000 genomes]
rs2280805	0.83[CHB][hapmap]
rs2409780	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2409781	0.87[CHB][hapmap]
rs2618444	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2618476	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2618478	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs2618479	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs2618480	0.85[ASN][1000 genomes]
rs2618481	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2736332	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2736336	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2736337	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2736338	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2736340	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2736343	0.84[ASN][1000 genomes]
rs2736344	0.89[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2736345	0.94[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs2736346	0.82[JPT][hapmap]
rs35393613	0.81[ASN][1000 genomes]
rs4840565	0.88[ASN][1000 genomes]
rs4840568	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62489069	0.81[ASN][1000 genomes]
rs7812879	0.80[ASN][1000 genomes]
rs922483	0.88[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs9693589	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9694294	0.88[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs998682	0.88[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs998683	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats 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	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv2762725	chr8:11322997-11350721	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2618473	C8orf13	cis	multi-tissue	Pritchard
rs2618473	C8orf13	Cis_1M	lymphoblastoid	RTeQTL
rs2618473	BLK	cis	multi-tissue	Pritchard
rs2618473	BLK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11338200-11350000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:11339000-11353800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:11342200-11348600	ZNF genes & repeats	GM12878-XiMat	blood
4	chr8:11343200-11344400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
5	chr8:11343800-11344200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:11344000-11344200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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