Variant report

Variant	rs17778581
Chromosome Location	chr8:10743421-10743422
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:10734114..10739768-chr8:10740375..10743720,5	K562	blood:
2	chr8:10737387..10739768-chr8:10741802..10743720,2	K562	blood:
3	chr8:10742152..10743978-chr8:10754413..10756262,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10089518	1.00[CHB][hapmap]
rs10090444	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10107145	0.81[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10903337	1.00[CHB][hapmap]
rs11250084	1.00[JPT][hapmap];0.91[YRI][hapmap]
rs11250086	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11250092	1.00[CHB][hapmap]
rs11250093	1.00[CHB][hapmap]
rs11250094	1.00[CHB][hapmap]
rs11776368	1.00[CHB][hapmap]
rs11783247	1.00[CHB][hapmap]
rs11990550	1.00[CHB][hapmap]
rs11993591	1.00[CHB][hapmap]
rs12546366	1.00[CHB][hapmap]
rs13248264	1.00[CHB][hapmap]
rs13248287	1.00[JPT][hapmap]
rs13248300	1.00[CHB][hapmap]
rs13251528	1.00[CHB][hapmap]
rs13270870	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13279922	1.00[JPT][hapmap]
rs1430866	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1529598	1.00[JPT][hapmap]
rs17152841	1.00[CHB][hapmap]
rs17779791	1.00[CHB][hapmap]
rs2409691	1.00[CHB][hapmap]
rs34716741	0.86[ASN][1000 genomes]
rs4240671	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4240672	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4240673	1.00[CHB][hapmap]
rs4326350	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4520127	1.00[CHB][hapmap]
rs4554431	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4840525	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4841458	1.00[CHB][hapmap]
rs4841460	1.00[CHB][hapmap]
rs4841486	1.00[CHB][hapmap]
rs6984496	1.00[CHB][hapmap]
rs6985109	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs6988281	1.00[CHB][hapmap]
rs6992103	1.00[CHB][hapmap]
rs6997839	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6997997	0.89[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7005884	1.00[CHB][hapmap]
rs7015168	0.82[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs7016385	1.00[CHB][hapmap]
rs71516598	0.86[ASN][1000 genomes]
rs755856	0.87[AFR][1000 genomes]
rs7813037	1.00[JPT][hapmap]
rs7821826	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7823296	1.00[CHB][hapmap]
rs7834121	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7834248	0.81[EUR][1000 genomes]
rs7837038	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs7843470	0.81[CEU][hapmap]
rs7843666	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1031726	chr8:10627742-10749369	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv508497	chr8:10680621-10750255	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17778581	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10720800-10756200	Weak transcription	Pancreas	Pancrea
2	chr8:10737600-10745000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:10743400-10743800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--

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