Variant report

Variant	rs7945560
Chromosome Location	chr11:26608497-26608498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10501059	0.90[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.82[MEX][hapmap];0.87[ASN][1000 genomes]
rs10501062	0.83[ASN][1000 genomes]
rs10835042	0.87[ASN][1000 genomes]
rs10835046	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs10835047	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs11029649	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[ASN][1000 genomes]
rs11600634	0.89[ASN][1000 genomes]
rs11601992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11602453	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11603245	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11603582	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11604868	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11605160	0.92[ASN][1000 genomes]
rs11606202	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.92[ASN][1000 genomes]
rs11606235	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[ASN][1000 genomes]
rs11606418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.88[MEX][hapmap];0.95[MKK][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11606579	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12278931	0.90[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.82[MEX][hapmap];0.87[ASN][1000 genomes]
rs12279760	0.90[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.82[MEX][hapmap];0.87[ASN][1000 genomes]
rs12292104	0.94[CHB][hapmap];0.87[ASN][1000 genomes]
rs12574098	0.85[CHB][hapmap];0.86[ASN][1000 genomes]
rs12575470	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12577083	0.89[ASN][1000 genomes]
rs12577354	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs16916005	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3802754	0.85[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.83[ASN][1000 genomes]
rs3802756	0.83[ASN][1000 genomes]
rs41468744	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs421694	0.95[CHB][hapmap];0.93[CHD][hapmap]
rs55870165	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs57160661	0.92[ASN][1000 genomes]
rs58302588	0.92[ASN][1000 genomes]
rs58449812	0.92[ASN][1000 genomes]
rs58629434	0.92[ASN][1000 genomes]
rs58631362	0.92[ASN][1000 genomes]
rs58857364	0.92[ASN][1000 genomes]
rs59747833	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs60530378	0.92[ASN][1000 genomes]
rs60600602	0.92[ASN][1000 genomes]
rs7112752	0.89[ASN][1000 genomes]
rs7116077	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117596	0.85[CHB][hapmap];0.86[ASN][1000 genomes]
rs7126479	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7932456	0.85[CHB][hapmap];0.83[ASN][1000 genomes]
rs7945253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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	nsv1044544	chr11:26506962-26967285	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1050121	chr11:26532655-26675303	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv540974	chr11:26532655-26675303	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv916187	chr11:26576875-27328603	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv10740	chr11:26607958-26610913	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
6	nsv522526	chr11:26608497-26610518	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
7	nsv553900	chr11:26608497-26610759	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
8	nsv553901	chr11:26608497-26611796	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7945560	ANO3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:26600400-26643000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:26603800-26623200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:26604000-26623600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:26605200-26608600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:26606600-26608600	Weak transcription	NHEK	skin
6	chr11:26606800-26614600	Weak transcription	Placenta	Placenta
7	chr11:26607600-26635400	Weak transcription	Adipose Nuclei	Adipose

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