Variant report

Variant	rs8181543
Chromosome Location	chr11:104017037-104017038
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10791667	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10791668	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10895578	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs10895579	0.89[EUR][1000 genomes]
rs10895581	1.00[CEU][hapmap];0.87[MEX][hapmap];0.89[EUR][1000 genomes]
rs10895583	1.00[CEU][hapmap];0.88[MEX][hapmap];0.89[EUR][1000 genomes]
rs10895587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10895588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10895589	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10895590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10895593	0.88[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10895595	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs10895597	0.89[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11226201	0.89[EUR][1000 genomes]
rs11226205	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11226207	0.89[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11226209	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs12226700	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12274835	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1384784	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs361271	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs58997101	0.89[EUR][1000 genomes]
rs68112497	0.89[EUR][1000 genomes]
rs7119186	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs7126071	0.86[EUR][1000 genomes]
rs724082	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs7942350	0.83[EUR][1000 genomes]
rs7943401	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8181546	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760322	chr11:103760085-104374141	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1051448	chr11:103864766-104274112	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
3	nsv541157	chr11:103864766-104274112	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1043976	chr11:103881236-104526403	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1040367	chr11:103956747-104440470	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
6	esv1834487	chr11:103959760-104026977	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv430426	chr11:103978540-104099790	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8181543	DCUN1D5	cis	parietal	SCAN
rs8181543	MMP10	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104005800-104019400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:104005800-104031000	Weak transcription	Aorta	Aorta
3	chr11:104008000-104017400	Weak transcription	Fetal Heart	heart
4	chr11:104013600-104033600	Weak transcription	Left Ventricle	heart
5	chr11:104013800-104033600	Weak transcription	Pancreas	Pancrea
6	chr11:104017000-104017400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:104017000-104017400	Enhancers	Ovary	ovary

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