Variant report

Variant	rs74093243
Chromosome Location	chr1:78618635-78618636
allele	A/T
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:24)

rs_ID	r²[population]
rs12080776	1.00[AMR][1000 genomes]
rs56012628	1.00[AMR][1000 genomes]
rs56072252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56140793	1.00[AMR][1000 genomes]
rs56688871	1.00[AMR][1000 genomes]
rs57296382	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57557763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57731556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58472854	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58770363	1.00[AMR][1000 genomes]
rs59041117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59440121	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60080500	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61626032	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6660974	1.00[AMR][1000 genomes]
rs6673518	1.00[AMR][1000 genomes]
rs6689686	1.00[AMR][1000 genomes]
rs74093219	1.00[AMR][1000 genomes]
rs74093248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74093250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74093259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74093266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74093268	1.00[AMR][1000 genomes]
rs74093269	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	esv1850497	chr1:78596312-78645701	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78584200-78630600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr1:78609200-78624600	Weak transcription	Pancreas	Pancrea
3	chr1:78609200-78624800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:78609400-78619000	Weak transcription	Fetal Intestine Small	intestine
5	chr1:78609600-78620800	Weak transcription	Fetal Intestine Large	intestine
6	chr1:78611600-78631400	Weak transcription	Liver	Liver
7	chr1:78613000-78619000	Weak transcription	Duodenum Mucosa	Duodenum

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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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