Variant report

Variant	rs60240422
Chromosome Location	chr1:158626058-158626059
allele	C/T
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:28)

rs_ID	r²[population]
rs10047206	1.00[AMR][1000 genomes]
rs10047207	1.00[AMR][1000 genomes]
rs1332693	1.00[AMR][1000 genomes]
rs1332695	0.91[AMR][1000 genomes]
rs1332696	1.00[AMR][1000 genomes]
rs1412661	1.00[AMR][1000 genomes]
rs1412662	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16840437	0.81[AMR][1000 genomes]
rs16840443	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16840444	0.81[AMR][1000 genomes]
rs16840445	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs16840446	0.81[AMR][1000 genomes]
rs16840450	1.00[AMR][1000 genomes]
rs16840452	1.00[AMR][1000 genomes]
rs16840456	0.81[AMR][1000 genomes]
rs16840458	1.00[AMR][1000 genomes]
rs2106089	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35121052	1.00[AMR][1000 genomes]
rs57663290	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60970031	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61048005	1.00[AMR][1000 genomes]
rs6666523	1.00[AMR][1000 genomes]
rs73018255	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73018260	1.00[AMR][1000 genomes]
rs73018265	1.00[AMR][1000 genomes]
rs7536211	0.91[AMR][1000 genomes]
rs7544849	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7547313	1.00[AMR][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	esv3491788	chr1:158537183-158725907	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3491789	chr1:158537242-158725858	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv872481	chr1:158625789-158712510	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158612200-158628800	Strong transcription	K562	blood
2	chr1:158625000-158626400	Enhancers	Foreskin Melanocyte Primary Cells skin03	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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