Variant report

Variant	rs6989160
Chromosome Location	chr8:10705360-10705361
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10695954..10697810-chr8:10705274..10708188,2	K562	blood:
2	chr8:10704113..10707157-chr8:10708528..10711302,3	K562	blood:

Variant related genes	Relation type
ENSG00000258724	Chromatin interaction
ENSG00000254093	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10046628	0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs10091386	0.85[CEU][hapmap];0.81[AMR][1000 genomes]
rs10093774	1.00[CEU][hapmap];0.81[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10097283	0.80[EUR][1000 genomes]
rs10098699	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs10481451	0.92[CEU][hapmap]
rs1055329	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs1073913	0.80[EUR][1000 genomes]
rs10903330	0.83[EUR][1000 genomes]
rs11250077	0.92[CEU][hapmap]
rs11250078	0.88[EUR][1000 genomes]
rs11250082	0.85[CHB][hapmap]
rs11250083	0.81[ASN][1000 genomes]
rs11986935	0.82[CEU][hapmap]
rs11996727	0.82[CEU][hapmap]
rs12542888	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs12676417	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs13254059	0.80[ASN][1000 genomes]
rs13254592	0.80[ASN][1000 genomes]
rs1469556	0.80[ASN][1000 genomes]
rs1469557	0.85[CHB][hapmap]
rs1991649	0.81[ASN][1000 genomes]
rs1991650	0.81[ASN][1000 genomes]
rs1991651	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2271355	0.84[CEU][hapmap]
rs2277130	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2278335	0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs2409658	0.89[EUR][1000 genomes]
rs2409669	0.84[CEU][hapmap]
rs34653170	0.92[EUR][1000 genomes]
rs35091929	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3808603	0.84[CEU][hapmap];0.81[JPT][hapmap]
rs4240670	0.87[EUR][1000 genomes]
rs4504595	0.88[CEU][hapmap]
rs4551304	0.87[EUR][1000 genomes]
rs4840516	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs4841452	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6601523	0.84[CEU][hapmap]
rs6601529	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs6601534	0.81[CEU][hapmap]
rs6601536	0.81[CEU][hapmap]
rs6980805	0.92[CEU][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7002282	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs7010680	0.81[ASN][1000 genomes]
rs7018334	0.81[EUR][1000 genomes]
rs7814757	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs7818181	0.81[CEU][hapmap]
rs7830317	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7830431	0.92[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7833945	1.00[CEU][hapmap];0.81[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9969626	0.92[CEU][hapmap];0.89[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
rs6989160	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10698000-10707800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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