Variant report

Variant	rs4478054
Chromosome Location	chr3:112573347-112573348
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10934190	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10934192	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10934193	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13326243	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1500878	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1500879	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2101440	0.80[AMR][1000 genomes]
rs28859668	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs28867393	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4234417	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4571210	0.88[ASN][1000 genomes]
rs4682120	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4682444	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6438111	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6438112	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6438113	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6438114	0.92[ASN][1000 genomes]
rs6765379	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6791158	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6791672	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7632218	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9818564	0.91[ASN][1000 genomes]
rs9838082	0.84[ASN][1000 genomes]
rs9868839	0.80[AMR][1000 genomes]
rs9875551	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv432477	chr3:112390310-112603310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv877343	chr3:112470586-112597706	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3501334	chr3:112546820-112648766	Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv3501335	chr3:112546820-112648766	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112567800-112575200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr3:112568000-112574000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:112570000-112575200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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