Variant report

Variant	rs74130424
Chromosome Location	chr1:192651043-192651044
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16834613	0.85[AFR][1000 genomes]
rs1933710	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56786813	0.81[AFR][1000 genomes]
rs58114792	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59176125	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61608852	0.94[AFR][1000 genomes]
rs74130418	0.83[AFR][1000 genomes]
rs74130421	0.85[AFR][1000 genomes]
rs74130422	0.85[AFR][1000 genomes]
rs74130440	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192650800-192651800	Enhancers	Colon Smooth Muscle	Colon
2	chr1:192650800-192652000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr1:192651000-192652000	Enhancers	Fetal Intestine Large	intestine

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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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