Variant report

Variant	rs9304569
Chromosome Location	chr19:38278133-38278134
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38269925..38271716-chr19:38277161..38278734,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000189144	Chromatin interaction
ENSG00000267422	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10048511	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10401637	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10401968	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10402530	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10409402	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10409487	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10420746	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10420891	0.86[EUR][1000 genomes]
rs10427125	0.81[AMR][1000 genomes]
rs11673023	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11878269	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11879180	0.86[EUR][1000 genomes]
rs1291	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12974225	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12975057	0.86[EUR][1000 genomes]
rs171376	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1974714	0.90[ASN][1000 genomes]
rs2075281	0.87[EUR][1000 genomes]
rs2075284	0.81[ASN][1000 genomes]
rs2287229	0.81[ASN][1000 genomes]
rs241932	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs241933	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs241950	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2909093	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2909098	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2909100	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2972434	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2972437	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2972438	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2972439	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2972445	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3095724	0.83[ASN][1000 genomes]
rs3095726	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3112434	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3848626	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4802135	0.85[EUR][1000 genomes]
rs4803509	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4803524	0.86[EUR][1000 genomes]
rs58449039	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6508742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7250571	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7250868	0.83[EUR][1000 genomes]
rs7252010	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7257125	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8101752	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8101858	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8102579	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8103633	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8104076	0.87[EUR][1000 genomes]
rs8112706	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8182498	0.86[EUR][1000 genomes]
rs856300	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs856304	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs968073	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers 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	58 gene(s)	inside rSNPs	diseases
3	nsv833820	chr19:38190721-38414049	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv960835	chr19:38270238-38293706	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9304569	ZNF571	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38270800-38279800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr19:38270800-38281000	Weak transcription	Right Ventricle	heart
3	chr19:38270800-38281400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:38271000-38281000	Weak transcription	Brain Hippocampus Middle	brain
5	chr19:38271400-38281000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr19:38277000-38280600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr19:38277800-38278200	ZNF genes & repeats	Left Ventricle	heart

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