Variant report

Variant	rs13266785
Chromosome Location	chr8:10989521-10989522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr8:10989424-10989702	GM12878	blood:	n/a	n/a
2	REST	chr8:10989513-10989603	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10989309..10991277-chr8:11000364..11001975,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000215346	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10088853	0.88[CEU][hapmap];0.95[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10095003	1.00[ASN][1000 genomes]
rs10100660	1.00[ASN][1000 genomes]
rs10101329	0.87[CEU][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106914	0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs10110684	1.00[ASN][1000 genomes]
rs10503415	0.83[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10503416	0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs10503417	1.00[ASN][1000 genomes]
rs11775489	1.00[ASN][1000 genomes]
rs11776603	0.83[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777355	1.00[ASN][1000 genomes]
rs11777887	0.85[TSI][hapmap];1.00[ASN][1000 genomes]
rs11777918	0.84[TSI][hapmap];1.00[ASN][1000 genomes]
rs11783045	0.81[TSI][hapmap];1.00[ASN][1000 genomes]
rs11783890	1.00[ASN][1000 genomes]
rs11785237	1.00[ASN][1000 genomes]
rs11989369	1.00[ASN][1000 genomes]
rs13248014	1.00[ASN][1000 genomes]
rs13249916	1.00[ASN][1000 genomes]
rs13256743	1.00[ASN][1000 genomes]
rs13265553	0.91[CEU][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13276708	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13281566	0.92[EUR][1000 genomes]
rs17725480	1.00[ASN][1000 genomes]
rs17725534	1.00[ASN][1000 genomes]
rs17726209	0.87[CEU][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17782536	0.84[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17782554	0.87[CEU][hapmap];0.90[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1987190	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2001328	0.82[EUR][1000 genomes]
rs2409712	0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs2409719	0.83[CEU][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409720	0.84[TSI][hapmap];1.00[ASN][1000 genomes]
rs2409725	1.00[ASN][1000 genomes]
rs2409726	1.00[ASN][1000 genomes]
rs2409729	1.00[ASN][1000 genomes]
rs3021495	0.88[CEU][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3021497	0.82[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3021498	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3021501	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34309263	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34367737	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35211404	1.00[ASN][1000 genomes]
rs4291231	0.87[CEU][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4412337	1.00[ASN][1000 genomes]
rs4451268	0.84[TSI][hapmap];1.00[ASN][1000 genomes]
rs4642600	0.83[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4840548	0.87[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841497	0.88[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841499	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841500	0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs67418928	1.00[ASN][1000 genomes]
rs67559300	1.00[ASN][1000 genomes]
rs71518512	1.00[ASN][1000 genomes]
rs73198943	1.00[ASN][1000 genomes]
rs7830569	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9329238	0.84[TSI][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
5	nsv1026331	chr8:10955941-11046394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1027845	chr8:10959666-10995565	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	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
8	nsv1019796	chr8:10979442-11010826	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv516033	chr8:10988275-10995060	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13266785	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10966200-10999000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:10966400-11026200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:10982800-11003400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:10983000-11002000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr8:10983000-11003200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr8:10983200-10991000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr8:10983200-10997000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:10983200-11001800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:10983400-10990800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:10983600-10990600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr8:10983600-10991000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:10984400-11000000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:10985400-10989600	Enhancers	GM12878-XiMat	blood
14	chr8:10986200-10994600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:10986400-10991000	Weak transcription	Spleen	Spleen
16	chr8:10986400-11002000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:10987200-10997000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:10989000-10992200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr8:10989400-10989600	Enhancers	Pancreas	Pancrea

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