Variant report

Variant	rs4240672
Chromosome Location	chr8:10767917-10767918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10763108..10765386-chr8:10767058..10768941,2	K562	blood:
2	chr8:10760620..10764608-chr8:10766304..10768558,3	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10087767	1.00[CHB][hapmap]
rs10089518	1.00[CHB][hapmap]
rs10107145	0.81[AMR][1000 genomes]
rs10903337	1.00[CHB][hapmap]
rs11250084	1.00[JPT][hapmap]
rs11250086	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11250092	1.00[CHB][hapmap]
rs11250094	0.80[CEU][hapmap]
rs11776011	0.87[ASN][1000 genomes]
rs11778121	1.00[CHB][hapmap]
rs11784061	0.87[ASN][1000 genomes]
rs11784331	0.87[ASN][1000 genomes]
rs11785392	1.00[CHB][hapmap]
rs12548184	0.83[EUR][1000 genomes]
rs13248264	1.00[CHB][hapmap]
rs13248287	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs13248300	1.00[CHB][hapmap]
rs13249916	1.00[CHB][hapmap]
rs13251528	1.00[CHB][hapmap]
rs13270870	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13273857	1.00[CHB][hapmap]
rs13279307	0.87[ASN][1000 genomes]
rs13279922	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1430866	1.00[JPT][hapmap]
rs1529598	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17152841	1.00[CHB][hapmap]
rs17778581	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17779791	1.00[CHB][hapmap]
rs2409691	1.00[CHB][hapmap]
rs2409692	1.00[CHB][hapmap]
rs2409693	1.00[CHB][hapmap]
rs2409695	1.00[CHB][hapmap]
rs34741518	0.82[AMR][1000 genomes]
rs4240671	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4326350	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4554431	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4840525	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841457	0.80[AMR][1000 genomes]
rs4841460	1.00[CHB][hapmap]
rs4841486	1.00[CHB][hapmap]
rs57145255	0.87[ASN][1000 genomes]
rs6601561	1.00[CHB][hapmap]
rs6601563	1.00[CHB][hapmap]
rs6985109	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs6997839	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997997	0.93[CEU][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015168	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7813037	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7821826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7832722	1.00[CHB][hapmap]
rs7834121	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7834248	0.89[EUR][1000 genomes]
rs7837038	0.93[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7843470	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs7843666	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9657544	1.00[CHB][hapmap]

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	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	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
3	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
4	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
5	nsv1025190	chr8:10756331-10802566	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv3406989	chr8:10767892-10771540	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4240672	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10762400-10778800	Weak transcription	Brain Angular Gyrus	brain
2	chr8:10765800-10770800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:10765800-10778400	Weak transcription	Pancreas	Pancrea
4	chr8:10767000-10768800	Enhancers	Fetal Brain Male	brain
5	chr8:10767200-10768400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:10767800-10768600	Enhancers	GM12878-XiMat	blood

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