Variant report

Variant	rs4543070
Chromosome Location	chr4:167368771-167368772
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10002331	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10002718	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1021431	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11100650	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12501155	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13105316	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13115190	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1352964	0.98[EUR][1000 genomes]
rs1352968	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1352969	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1492518	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1492539	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1492541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1492542	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1492544	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1565652	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1602678	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1602679	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1602681	0.96[EUR][1000 genomes]
rs1602682	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1982867	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2322566	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2322567	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2322808	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28883115	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3967162	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4147009	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4539997	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4691277	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6817769	0.88[AMR][1000 genomes]
rs6841675	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7667280	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7671205	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9991895	0.96[AMR][1000 genomes];0.93[EUR][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	nsv1034421	chr4:166961339-167893289	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv537339	chr4:166961339-167893289	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1032009	chr4:167154813-167403235	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv880900	chr4:167155443-167368812	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv881405	chr4:167193885-167628013	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1023051	chr4:167304814-168211540	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv537340	chr4:167304814-168211540	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1028788	chr4:167315021-167403235	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4543070	ARMCX5	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:167358000-167370200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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