Variant report

Variant	rs531197
Chromosome Location	chr7:80032364-80032365
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10224553	0.92[EUR][1000 genomes]
rs10227661	1.00[EUR][1000 genomes]
rs10246082	1.00[EUR][1000 genomes]
rs10260212	0.97[EUR][1000 genomes]
rs10262631	0.98[EUR][1000 genomes]
rs10954165	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10954166	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17153872	1.00[EUR][1000 genomes]
rs17153884	1.00[EUR][1000 genomes]
rs17153898	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28436901	1.00[EUR][1000 genomes]
rs28692526	1.00[EUR][1000 genomes]
rs4563825	1.00[EUR][1000 genomes]
rs471683	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs471775	1.00[EUR][1000 genomes]
rs483336	1.00[EUR][1000 genomes]
rs492403	1.00[EUR][1000 genomes]
rs496617	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs496621	1.00[EUR][1000 genomes]
rs496894	1.00[EUR][1000 genomes]
rs503046	0.98[EUR][1000 genomes]
rs504899	1.00[EUR][1000 genomes]
rs511060	1.00[EUR][1000 genomes]
rs512689	1.00[EUR][1000 genomes]
rs513740	1.00[EUR][1000 genomes]
rs526183	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs526322	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs533267	1.00[EUR][1000 genomes]
rs534997	1.00[EUR][1000 genomes]
rs540192	1.00[EUR][1000 genomes]
rs552739	1.00[EUR][1000 genomes]
rs553993	0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs562467	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs565166	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs565829	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs568125	1.00[EUR][1000 genomes]
rs570687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs573316	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs575195	1.00[EUR][1000 genomes]
rs57684477	1.00[EUR][1000 genomes]
rs577808	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs581101	1.00[EUR][1000 genomes]
rs7784820	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7785386	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7785985	0.98[EUR][1000 genomes]
rs7790369	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7792680	0.94[EUR][1000 genomes]
rs7792890	0.97[EUR][1000 genomes]
rs7799056	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7800677	1.00[EUR][1000 genomes]
rs7808977	1.00[EUR][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	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831042	chr7:79984079-80122312	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv464603	chr7:80030601-80064727	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv607679	chr7:80030601-80064727	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80029000-80035600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:80030400-80033200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:80030800-80034000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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