Variant report

Variant	rs62431563
Chromosome Location	chr6:130883013-130883014
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1203354	0.86[ASN][1000 genomes]
rs12665689	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17059212	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1815602	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1933758	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2209147	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2326913	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4895888	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4897439	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56019502	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62431565	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62431566	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72988212	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7451336	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7452034	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7754423	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9375727	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9385545	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9385546	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533971	chr6:130490694-131172051	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv427767	chr6:130875056-131008620	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv5475	chr6:130880169-130924850	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:130882000-130883200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:130882200-130883200	Enhancers	Primary B cells from peripheral blood	blood
3	chr6:130882200-130883400	Weak transcription	HSMMtube	muscle
4	chr6:130882600-130894400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:130882800-130884400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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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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