Variant report

Variant	rs13248264
Chromosome Location	chr8:10942742-10942743
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10087767	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.91[EUR][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]
rs11776603	1.00[CHB][hapmap]
rs11777887	1.00[CHB][hapmap]
rs11777918	1.00[CHB][hapmap]
rs11778121	1.00[CHB][hapmap]
rs11780798	0.81[CEU][hapmap];1.00[YRI][hapmap]
rs11783045	1.00[CHB][hapmap]
rs11785392	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs11989369	1.00[CHB][hapmap]
rs12156117	0.85[AMR][1000 genomes]
rs13248014	1.00[CHB][hapmap]
rs13248300	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs13249916	1.00[CHB][hapmap]
rs13251528	1.00[CHB][hapmap]
rs13256743	1.00[CHB][hapmap]
rs13265553	1.00[CHB][hapmap]
rs13273857	1.00[CHB][hapmap]
rs13275102	0.82[EUR][1000 genomes]
rs13276708	1.00[CHB][hapmap]
rs13276836	1.00[CHB][hapmap]
rs17152841	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17725480	1.00[CHB][hapmap]
rs17725534	1.00[CHB][hapmap]
rs17726209	1.00[CHB][hapmap]
rs17779791	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17782536	1.00[CHB][hapmap]
rs17782554	1.00[CHB][hapmap]
rs1987190	1.00[CHB][hapmap]
rs2409691	1.00[CHB][hapmap]
rs2409692	1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409693	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409695	1.00[CHB][hapmap];0.84[EUR][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]
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[CHB][hapmap]
rs4642600	1.00[CHB][hapmap]
rs4840536	0.82[AMR][1000 genomes]
rs4840541	1.00[ASN][1000 genomes]
rs4840548	1.00[CHB][hapmap]
rs4841460	1.00[CHB][hapmap]
rs4841486	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs4841491	1.00[ASN][1000 genomes]
rs4841497	1.00[CHB][hapmap]
rs6601561	1.00[CHB][hapmap]
rs6601563	1.00[CHB][hapmap]
rs67841554	0.84[EUR][1000 genomes]
rs6985109	1.00[CHB][hapmap]
rs7821826	1.00[CHB][hapmap]
rs7822400	1.00[YRI][hapmap]
rs7823610	0.91[CEU][hapmap]
rs7832722	1.00[CHB][hapmap]
rs7838051	1.00[YRI][hapmap]
rs9329238	1.00[CHB][hapmap]
rs9657544	0.86[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9657545	0.81[AMR][1000 genomes];0.81[EUR][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13248264	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10925600-10944400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:10935200-10943800	Weak transcription	Brain Anterior Caudate	brain
3	chr8:10940600-10943400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:10941600-10943000	Enhancers	Gastric	stomach
5	chr8:10942200-10942800	Enhancers	Fetal Brain Male	brain
6	chr8:10942200-10944400	Enhancers	Fetal Heart	heart
7	chr8:10942400-10942800	Enhancers	Fetal Brain Female	brain
8	chr8:10942400-10943000	Enhancers	Pancreas	Pancrea
9	chr8:10942400-10943400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:10942400-10943400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr8:10942600-10943000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr8:10942600-10943200	Weak transcription	Spleen	Spleen
13	chr8:10942600-10943400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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