Variant report

Variant	rs13273857
Chromosome Location	chr8:10955897-10955898
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10953851..10956299-chr8:10959068..10961747,2	MCF-7	breast:
2	chr8:10953495..10955337-chr8:10955774..10957347,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10087767	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10088853	1.00[CHB][hapmap]
rs10089518	1.00[CHB][hapmap]
rs10100660	1.00[CHB][hapmap]
rs10101329	1.00[CHB][hapmap]
rs10110684	1.00[CHB][hapmap]
rs10503417	1.00[CHB][hapmap]
rs10903337	1.00[CHB][hapmap]
rs11250092	1.00[CHB][hapmap]
rs11776159	1.00[CHB][hapmap]
rs11776603	1.00[CHB][hapmap]
rs11777887	1.00[CHB][hapmap]
rs11777918	1.00[CHB][hapmap]
rs11778121	1.00[CHB][hapmap]
rs11783045	1.00[CHB][hapmap]
rs11783227	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785392	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11989369	1.00[CHB][hapmap]
rs12156117	1.00[ASN][1000 genomes]
rs13248014	1.00[CHB][hapmap]
rs13248264	1.00[CHB][hapmap]
rs13248287	1.00[CHB][hapmap]
rs13248300	1.00[CHB][hapmap]
rs13249916	1.00[CHB][hapmap]
rs13251528	1.00[CHB][hapmap]
rs13256743	1.00[CHB][hapmap]
rs13265553	1.00[CHB][hapmap]
rs13268130	1.00[CHB][hapmap]
rs13275102	1.00[ASN][1000 genomes]
rs13276708	1.00[CHB][hapmap]
rs13276836	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13279922	1.00[CHB][hapmap]
rs17152841	1.00[CHB][hapmap]
rs17725480	1.00[CHB][hapmap]
rs17725534	1.00[CHB][hapmap]
rs17726209	1.00[CHB][hapmap]
rs17779791	1.00[CHB][hapmap]
rs17782536	1.00[CHB][hapmap]
rs17782554	1.00[CHB][hapmap]
rs1987190	1.00[CHB][hapmap]
rs2251301	1.00[CHB][hapmap]
rs2409691	1.00[CHB][hapmap]
rs2409692	1.00[CHB][hapmap]
rs2409693	1.00[CHB][hapmap]
rs2409695	1.00[ASN][1000 genomes]
rs2409719	1.00[CHB][hapmap]
rs2409720	1.00[CHB][hapmap]
rs2409729	1.00[CHB][hapmap]
rs3021495	1.00[CHB][hapmap]
rs3021497	1.00[CHB][hapmap]
rs36089015	1.00[ASN][1000 genomes]
rs4240671	1.00[CHB][hapmap]
rs4240672	1.00[CHB][hapmap]
rs4291231	1.00[CHB][hapmap]
rs4326350	1.00[CHB][hapmap]
rs4451268	1.00[CHB][hapmap]
rs4618656	1.00[ASN][1000 genomes]
rs4642600	1.00[CHB][hapmap]
rs4840548	1.00[CHB][hapmap]
rs4841460	1.00[CHB][hapmap]
rs4841486	1.00[CHB][hapmap]
rs4841497	1.00[CHB][hapmap]
rs4841508	1.00[ASN][1000 genomes]
rs6601561	1.00[CHB][hapmap]
rs6601563	1.00[CHB][hapmap]
rs6985109	1.00[CHB][hapmap]
rs7000132	1.00[ASN][1000 genomes]
rs7813037	1.00[CHB][hapmap]
rs7821826	1.00[CHB][hapmap]
rs7832722	1.00[CHB][hapmap]
rs9329238	1.00[CHB][hapmap]
rs9657544	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9657545	1.00[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	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	esv1815171	chr8:10940039-11128712	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1025426	chr8:10942929-11037903	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs13273857	AF131215.9	cis	Skin Sun Exposed Lower leg	GTEx
rs13273857	AF131215.2	cis	Esophagus Mucosa	GTEx
rs13273857	AF131215.2	cis	Stomach	GTEx
rs13273857	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs13273857	AF131215.2	cis	Skin Sun Exposed Lower leg	GTEx
rs13273857	LOC100129129	cis	substantia nigra	BrainEAC
rs13273857	AF131215.9	cis	Heart Left Ventricle	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10950600-10965000	Weak transcription	Gastric	stomach
2	chr8:10951000-10956600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:10954400-10959200	Weak transcription	Pancreas	Pancrea
4	chr8:10955200-10968000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:10955400-10956200	Enhancers	Fetal Heart	heart
6	chr8:10955600-10956000	Bivalent Enhancer	Fetal Brain Male	brain
7	chr8:10955800-10957200	Enhancers	Primary B cells from peripheral blood	blood

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