Variant report

Variant	rs11772179
Chromosome Location	chr7:66066732-66066733
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	chr7:66065925..66067738-chr7:66091765..66093864,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10242423	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10253883	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10258739	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10281646	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10950045	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12532355	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12534943	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28846700	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35117338	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4398788	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4718378	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62467809	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66525610	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6947808	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6961186	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6967809	0.80[AMR][1000 genomes]
rs6968619	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6977632	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs732465	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs801191	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs801207	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv888326	chr7:65825257-66066999	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs11772179	RP4-756H11.3	cis	Thyroid	GTEx
rs11772179	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs11772179	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs11772179	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs11772179	RP4-756H11.3	cis	Artery Tibial	GTEx
rs11772179	RP4-756H11.3	cis	lung	GTEx
rs11772179	GTF2IRD1P1	cis	Thyroid	GTEx
rs11772179	RP4-756H11.3	cis	Artery Aorta	GTEx
rs11772179	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs11772179	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs11772179	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs11772179	RP4-756H11.3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66057600-66067600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:66058000-66067600	Weak transcription	Lung	lung
3	chr7:66058200-66067000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:66058200-66068800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:66064600-66067000	Weak transcription	HepG2	liver

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