Variant report

Variant	rs7815184
Chromosome Location	chr8:10520255-10520256
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10512107..10514009-chr8:10517440..10520321,2	MCF-7	breast:
2	chr8:10513777..10515857-chr8:10519187..10521962,2	K562	blood:

Variant related genes	Relation type
ENSG00000183638	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10094634	0.81[EUR][1000 genomes]
rs10094968	0.87[ASN][1000 genomes]
rs10097577	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10098956	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10102073	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs10107820	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10110723	1.00[JPT][hapmap]
rs10216539	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11250057	0.85[CEU][hapmap];0.83[GIH][hapmap];0.85[MEX][hapmap];0.81[EUR][1000 genomes]
rs1139843	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11778725	0.85[CEU][hapmap]
rs11779336	1.00[CHD][hapmap]
rs11783803	1.00[CHD][hapmap]
rs11990311	0.87[ASN][1000 genomes]
rs12543900	0.85[CEU][hapmap];0.83[GIH][hapmap];0.85[MEX][hapmap];0.81[EUR][1000 genomes]
rs12543903	0.81[EUR][1000 genomes]
rs13267218	0.82[CEU][hapmap]
rs17152410	1.00[CHD][hapmap]
rs28463918	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28468400	0.99[EUR][1000 genomes]
rs28488675	0.81[ASN][1000 genomes]
rs28521236	0.99[EUR][1000 genomes]
rs28665435	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34043696	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35639780	0.80[ASN][1000 genomes]
rs4129653	0.85[CEU][hapmap]
rs4373491	0.87[CEU][hapmap]
rs4840518	1.00[CHD][hapmap]
rs4841449	1.00[CHD][hapmap]
rs55782357	0.81[EUR][1000 genomes]
rs55829418	0.81[EUR][1000 genomes]
rs59276210	0.80[ASN][1000 genomes]
rs59329830	0.80[ASN][1000 genomes]
rs60672851	0.80[ASN][1000 genomes]
rs6601505	0.80[ASN][1000 genomes]
rs6601507	0.80[ASN][1000 genomes]
rs6601508	0.80[ASN][1000 genomes]
rs6983956	1.00[CHD][hapmap]
rs6984094	1.00[CHD][hapmap]
rs6991320	0.85[CEU][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7002378	0.93[ASN][1000 genomes]
rs7003456	1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7006325	0.87[ASN][1000 genomes]
rs7012879	1.00[CHD][hapmap]
rs73530796	0.87[ASN][1000 genomes]
rs73532605	0.87[ASN][1000 genomes]
rs73532619	0.80[ASN][1000 genomes]
rs73532620	0.80[ASN][1000 genomes]
rs73532622	0.80[ASN][1000 genomes]
rs73541440	0.93[ASN][1000 genomes]
rs73541442	0.93[ASN][1000 genomes]
rs73541445	0.93[ASN][1000 genomes]
rs73541496	0.81[ASN][1000 genomes]
rs7813417	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs7822666	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7824878	0.85[CEU][hapmap]
rs7827623	1.00[JPT][hapmap]
rs7828426	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs891560	1.00[CHD][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
rs7815184	C8orf74	cis	cerebellum	SCAN
rs7815184	DEFB136	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10513000-10522800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:10513000-10524200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:10516800-10521800	Enhancers	Adipose Nuclei	Adipose
4	chr8:10519000-10520400	Weak transcription	Right Atrium	heart
5	chr8:10519000-10520800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:10519000-10521800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
7	chr8:10519400-10520400	Enhancers	Right Ventricle	heart
8	chr8:10519400-10521400	Enhancers	Left Ventricle	heart

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