Variant report

Variant	rs10102073
Chromosome Location	chr8:10526446-10526447
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	chr8:10525060..10527133-chr8:10530588..10533348,2	K562	blood:

Variant related genes	Relation type
ENSG00000171060	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10094634	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10216539	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs11250057	1.00[CEU][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs11778725	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs11986717	1.00[ASN][1000 genomes]
rs11997941	1.00[CHB][hapmap]
rs12543900	1.00[CEU][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs12543903	0.98[EUR][1000 genomes]
rs13259547	1.00[CHB][hapmap]
rs13261103	1.00[CHB][hapmap]
rs13267218	1.00[CEU][hapmap]
rs13275368	1.00[CHB][hapmap]
rs13280573	1.00[CHB][hapmap]
rs13281534	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17152329	1.00[CHB][hapmap]
rs17152399	1.00[CHB][hapmap]
rs17152492	1.00[CHB][hapmap]
rs2409654	1.00[CHB][hapmap]
rs2409655	1.00[CHB][hapmap]
rs2409656	1.00[CHB][hapmap]
rs28375521	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28463918	0.93[EUR][1000 genomes]
rs28468400	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28521236	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28665435	0.97[EUR][1000 genomes]
rs28754712	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2898244	1.00[CHB][hapmap]
rs34043696	0.99[EUR][1000 genomes]
rs4129653	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4620243	1.00[ASN][1000 genomes]
rs4840504	0.95[EUR][1000 genomes]
rs4841356	1.00[CHB][hapmap]
rs55782357	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55829418	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60239832	1.00[ASN][1000 genomes]
rs6601494	1.00[ASN][1000 genomes]
rs6981249	1.00[ASN][1000 genomes]
rs6991320	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs6993463	1.00[CHB][hapmap]
rs6993632	1.00[CHB][hapmap]
rs6993753	1.00[CHB][hapmap]
rs7005389	1.00[CHB][hapmap]
rs7014997	0.84[CEU][hapmap];1.00[MEX][hapmap]
rs7018069	1.00[ASN][1000 genomes]
rs73200708	1.00[ASN][1000 genomes]
rs73200714	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73662878	1.00[ASN][1000 genomes]
rs7463228	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7813417	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815184	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs7822821	1.00[CHB][hapmap]
rs7824878	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7833599	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7838734	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7840610	1.00[CHB][hapmap]
rs7840769	1.00[CHB][hapmap]
rs7844511	1.00[ASN][1000 genomes]
rs7845069	1.00[ASN][1000 genomes]
rs891557	1.00[CHB][hapmap]
rs934325	1.00[CHB][hapmap]

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	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	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
6	nsv610267	chr8:10268736-10526742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv1021048	chr8:10504395-10591896	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10102073	C8orf74	cis	cerebellum	SCAN
rs10102073	DEFB136	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10520800-10529000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:10524800-10529600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:10526400-10529000	Weak transcription	HUVEC	blood vessel

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