Variant report

Variant	rs2131246
Chromosome Location	chr4:167340123-167340124
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1565652	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1602679	1.00[AFR][1000 genomes]
rs1602682	1.00[AFR][1000 genomes]
rs17518554	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2199226	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2611702	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28762422	0.86[EUR][1000 genomes]
rs4691273	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59667461	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6828297	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6829268	0.86[EUR][1000 genomes]
rs72988431	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72988450	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72988452	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7671205	0.81[AMR][1000 genomes]
rs7681977	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7682504	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9790583	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs980999	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv880967	chr4:167185391-167366567	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	nsv1028788	chr4:167315021-167403235	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:167333000-167342200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr4:167336400-167341800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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