Variant report

Variant	rs295538
Chromosome Location	chr5:60500649-60500650
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12186613	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs159373	0.88[EUR][1000 genomes]
rs159379	0.88[EUR][1000 genomes]
rs167190	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1841504	0.88[EUR][1000 genomes]
rs2545476	0.88[EUR][1000 genomes]
rs2613632	0.88[EUR][1000 genomes]
rs295523	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs295525	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs295526	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs295529	0.88[EUR][1000 genomes]
rs295530	0.88[EUR][1000 genomes]
rs295547	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs295548	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs295549	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs295550	0.91[EUR][1000 genomes]
rs295568	0.88[EUR][1000 genomes]
rs295570	0.83[EUR][1000 genomes]
rs295572	0.88[EUR][1000 genomes]
rs295574	0.81[EUR][1000 genomes]
rs295576	0.88[EUR][1000 genomes]
rs295577	0.88[EUR][1000 genomes]
rs295580	0.88[EUR][1000 genomes]
rs295581	0.88[EUR][1000 genomes]
rs298625	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs298626	0.88[EUR][1000 genomes]
rs298627	0.88[EUR][1000 genomes]
rs298628	0.88[EUR][1000 genomes]
rs298630	0.88[EUR][1000 genomes]
rs298631	0.88[EUR][1000 genomes]
rs498497	0.88[EUR][1000 genomes]
rs557092	0.88[EUR][1000 genomes]
rs603018	0.87[AFR][1000 genomes];0.88[EUR][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	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	esv1845980	chr5:60481408-60511495	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60499600-60501200	Weak transcription	HSMM	muscle

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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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